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April 29, 2024 17:27
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| #genome_nexus_version: 1.0.2 | |
| #isoform: mskcc | |
| Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Consequence Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer t_ref_count t_alt_count n_ref_count n_alt_count HGVSc HGVSp HGVSp_Short Transcript_ID RefSeq Protein_position Codons Exon_Number genomic_location_explanation Annotation_Status | |
| ISG15 9636 GRCh37 1 948846 948847 + 5_prime_UTR_variant 5'UTR INS - A rs3841266 647V_URINARY_TRACT ENST00000379389.4:c.-107dup p.*36* ENST00000379389 NM_005101.3 1/2 SUCCESS | |
| ISG15 9636 GRCh37 1 948846 948847 + 5_prime_UTR_variant 5'UTR INS - A rs3841266 A204_SOFT_TISSUE ENST00000379389.4:c.-107dup p.*36* ENST00000379389 NM_005101.3 1/2 SUCCESS | |
| ISG15 9636 GRCh37 1 948846 948847 + 5_prime_UTR_variant 5'UTR INS - A rs3841266 BICR31_UPPER_AERODIGESTIVE_TRACT ENST00000379389.4:c.-107dup p.*36* ENST00000379389 NM_005101.3 1/2 SUCCESS | |
| ISG15 9636 GRCh37 1 948846 948847 + 5_prime_UTR_variant 5'UTR INS - A rs3841266 CAMA1_BREAST ENST00000379389.4:c.-107dup p.*36* ENST00000379389 NM_005101.3 1/2 SUCCESS | |
| ISG15 9636 GRCh37 1 948846 948847 + 5_prime_UTR_variant 5'UTR INS - A rs3841266 CMK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000379389.4:c.-107dup p.*36* ENST00000379389 NM_005101.3 1/2 SUCCESS | |
| ISG15 9636 GRCh37 1 948846 948847 + 5_prime_UTR_variant 5'UTR INS - A rs3841266 DAOY_CENTRAL_NERVOUS_SYSTEM ENST00000379389.4:c.-107dup p.*36* ENST00000379389 NM_005101.3 1/2 SUCCESS | |
| ISG15 9636 GRCh37 1 948846 948847 + 5_prime_UTR_variant 5'UTR INS - A rs3841266 G361_SKIN ENST00000379389.4:c.-107dup p.*36* ENST00000379389 NM_005101.3 1/2 SUCCESS | |
| ISG15 9636 GRCh37 1 948846 948847 + 5_prime_UTR_variant 5'UTR INS - A rs3841266 HCC44_LUNG ENST00000379389.4:c.-107dup p.*36* ENST00000379389 NM_005101.3 1/2 SUCCESS | |
| ISG15 9636 GRCh37 1 948846 948847 + 5_prime_UTR_variant 5'UTR INS - A rs3841266 HS840T_UPPER_AERODIGESTIVE_TRACT ENST00000379389.4:c.-107dup p.*36* ENST00000379389 NM_005101.3 1/2 SUCCESS | |
| ISG15 9636 GRCh37 1 948846 948847 + 5_prime_UTR_variant 5'UTR INS - A rs3841266 HS888T_BONE ENST00000379389.4:c.-107dup p.*36* ENST00000379389 NM_005101.3 1/2 SUCCESS | |
| ISG15 9636 GRCh37 1 948846 948847 + 5_prime_UTR_variant 5'UTR INS - A rs3841266 HT29_LARGE_INTESTINE ENST00000379389.4:c.-107dup p.*36* ENST00000379389 NM_005101.3 1/2 SUCCESS | |
| ISG15 9636 GRCh37 1 948846 948847 + 5_prime_UTR_variant 5'UTR INS - A rs3841266 HUCCT1_BILIARY_TRACT ENST00000379389.4:c.-107dup p.*36* ENST00000379389 NM_005101.3 1/2 SUCCESS | |
| ISG15 9636 GRCh37 1 948846 948847 + 5_prime_UTR_variant 5'UTR INS - A rs3841266 JJN3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000379389.4:c.-107dup p.*36* ENST00000379389 NM_005101.3 1/2 SUCCESS | |
| ISG15 9636 GRCh37 1 948846 948847 + 5_prime_UTR_variant 5'UTR INS - A rs3841266 KLE_ENDOMETRIUM ENST00000379389.4:c.-107dup p.*36* ENST00000379389 NM_005101.3 1/2 SUCCESS | |
| ISG15 9636 GRCh37 1 948846 948847 + 5_prime_UTR_variant 5'UTR INS - A rs3841266 KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000379389.4:c.-107dup p.*36* ENST00000379389 NM_005101.3 1/2 SUCCESS | |
| ISG15 9636 GRCh37 1 948846 948847 + 5_prime_UTR_variant 5'UTR INS - A rs3841266 MEWO_SKIN ENST00000379389.4:c.-107dup p.*36* ENST00000379389 NM_005101.3 1/2 SUCCESS | |
| ISG15 9636 GRCh37 1 948846 948847 + 5_prime_UTR_variant 5'UTR INS - A rs3841266 MG63_BONE ENST00000379389.4:c.-107dup p.*36* ENST00000379389 NM_005101.3 1/2 SUCCESS | |
| ISG15 9636 GRCh37 1 948846 948847 + 5_prime_UTR_variant 5'UTR INS - A rs3841266 NCIH1563_LUNG ENST00000379389.4:c.-107dup p.*36* ENST00000379389 NM_005101.3 1/2 SUCCESS | |
| ISG15 9636 GRCh37 1 948846 948847 + 5_prime_UTR_variant 5'UTR INS - A rs3841266 NCIH1930_LUNG ENST00000379389.4:c.-107dup p.*36* ENST00000379389 NM_005101.3 1/2 SUCCESS | |
| ISG15 9636 GRCh37 1 948846 948847 + 5_prime_UTR_variant 5'UTR INS - A rs3841266 NCIH2023_LUNG ENST00000379389.4:c.-107dup p.*36* ENST00000379389 NM_005101.3 1/2 SUCCESS | |
| ISG15 9636 GRCh37 1 948846 948847 + 5_prime_UTR_variant 5'UTR INS - A rs3841266 NCIH2452_PLEURA ENST00000379389.4:c.-107dup p.*36* ENST00000379389 NM_005101.3 1/2 SUCCESS | |
| ISG15 9636 GRCh37 1 948846 948847 + 5_prime_UTR_variant 5'UTR INS - A rs3841266 PK59_PANCREAS ENST00000379389.4:c.-107dup p.*36* ENST00000379389 NM_005101.3 1/2 SUCCESS | |
| ISG15 9636 GRCh37 1 948846 948847 + 5_prime_UTR_variant 5'UTR INS - A rs3841266 RH41_SOFT_TISSUE ENST00000379389.4:c.-107dup p.*36* ENST00000379389 NM_005101.3 1/2 SUCCESS | |
| ISG15 9636 GRCh37 1 948846 948847 + 5_prime_UTR_variant 5'UTR INS - A rs3841266 SNU869_BILIARY_TRACT ENST00000379389.4:c.-107dup p.*36* ENST00000379389 NM_005101.3 1/2 SUCCESS | |
| ISG15 9636 GRCh37 1 948846 948847 + 5_prime_UTR_variant 5'UTR INS - A rs3841266 SQ1_LUNG ENST00000379389.4:c.-107dup p.*36* ENST00000379389 NM_005101.3 1/2 SUCCESS | |
| ISG15 9636 GRCh37 1 948846 948847 + 5_prime_UTR_variant 5'UTR INS - A rs3841266 TE1_OESOPHAGUS ENST00000379389.4:c.-107dup p.*36* ENST00000379389 NM_005101.3 1/2 SUCCESS | |
| ISG15 9636 GRCh37 1 948918 948918 + 5_prime_UTR_variant 5'UTR SNP G A rs747440752 BFTC905_URINARY_TRACT ENST00000379389.4:c.-36G>A p.*12* ENST00000379389 NM_005101.3 1/2 SUCCESS | |
| ISG15 9636 GRCh37 1 948949 948949 + 5_prime_UTR_variant 5'UTR SNP C T rs1049305310 COV318_OVARY ENST00000379389.4:c.-5C>T p.*2* ENST00000379389 NM_005101.3 1/2 SUCCESS | |
| ISG15 9636 GRCh37 1 949478 949478 + missense_variant Missense_Mutation SNP G A rs201238613 SW480_LARGE_INTESTINE ENST00000379389.4:c.118G>A p.Ala40Thr p.A40T ENST00000379389 NM_005101.3 40 Gcc/Acc 2/2 SUCCESS | |
| ISG15 9636 GRCh37 1 949478 949478 + missense_variant Missense_Mutation SNP G A rs201238613 SW620_LARGE_INTESTINE ENST00000379389.4:c.118G>A p.Ala40Thr p.A40T ENST00000379389 NM_005101.3 40 Gcc/Acc 2/2 SUCCESS | |
| ISG15 9636 GRCh37 1 949481 949481 + missense_variant Missense_Mutation SNP T A TE5_OESOPHAGUS ENST00000379389.4:c.121T>A p.Phe41Ile p.F41I ENST00000379389 NM_005101.3 41 Ttc/Atc 2/2 SUCCESS | |
| ISG15 9636 GRCh37 1 949569 949569 + missense_variant Missense_Mutation SNP C T rs771961878 SNU175_LARGE_INTESTINE ENST00000379389.4:c.209C>T p.Thr70Met p.T70M ENST00000379389 NM_005101.3 70 aCg/aTg 2/2 SUCCESS | |
| ISG15 9636 GRCh37 1 949752 949752 + missense_variant Missense_Mutation SNP T C HCT116_LARGE_INTESTINE ENST00000379389.4:c.392T>C p.Leu131Pro p.L131P ENST00000379389 NM_005101.3 131 cTg/cCg 2/2 SUCCESS | |
| ISG15 9636 GRCh37 1 949802 949802 + missense_variant Missense_Mutation SNP G A rs202194159 BEN_LUNG ENST00000379389.4:c.442G>A p.Val148Met p.V148M ENST00000379389 NM_005101.3 148 Gtg/Atg 2/2 SUCCESS | |
| ISG15 9636 GRCh37 1 949806 949806 + missense_variant Missense_Mutation SNP T C rs201720630 RD_SOFT_TISSUE ENST00000379389.4:c.446T>C p.Phe149Ser p.F149S ENST00000379389 NM_005101.3 149 tTc/tCc 2/2 SUCCESS | |
| ISG15 9636 GRCh37 1 949807 949807 + missense_variant Missense_Mutation SNP C A JHUEM7_ENDOMETRIUM ENST00000379389.4:c.447C>A p.Phe149Leu p.F149L ENST00000379389 NM_005101.3 149 ttC/ttA 2/2 SUCCESS | |
| ISG15 9636 GRCh37 1 949868 949868 + 3_prime_UTR_variant 3'UTR SNP C T HCT15_LARGE_INTESTINE ENST00000379389.4:c.*10C>T ENST00000379389 NM_005101.3 2/2 SUCCESS | |
| ISG15 9636 GRCh37 1 949886 949886 + 3_prime_UTR_variant 3'UTR SNP C T rs181984999 SW1088_CENTRAL_NERVOUS_SYSTEM ENST00000379389.4:c.*28C>T ENST00000379389 NM_005101.3 2/2 SUCCESS | |
| TNFRSF18 8784 GRCh37 1 1139182 1139182 + 3_prime_UTR_variant 3'UTR SNP G A MDST8_LARGE_INTESTINE ENST00000379268.2:c.*42C>T ENST00000379268 NM_004195.2 5/5 SUCCESS | |
| TNFRSF18 8784 GRCh37 1 1139209 1139209 + 3_prime_UTR_variant 3'UTR SNP G A rs201901088 DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000379268.2:c.*15C>T ENST00000379268 NM_004195.2 5/5 SUCCESS | |
| TNFRSF18 8784 GRCh37 1 1139246 1139246 + missense_variant Missense_Mutation SNP C A NCIH2073_LUNG ENST00000379268.2:c.704G>T p.Arg235Leu p.R235L ENST00000379268 NM_004195.2 235 cGg/cTg 5/5 SUCCESS | |
| TNFRSF18 8784 GRCh37 1 1139284 1139284 + synonymous_variant Silent SNP C T IGROV1_OVARY ENST00000379268.2:c.666G>A p.Glu222= p.E222= ENST00000379268 NM_004195.2 222 gaG/gaA 5/5 SUCCESS | |
| TNFRSF18 8784 GRCh37 1 1139318 1139318 + missense_variant Missense_Mutation SNP G A rs761300758 NCIH1341_LUNG ENST00000379268.2:c.632C>T p.Ser211Leu p.S211L ENST00000379268 NM_004195.2 211 tCg/tTg 5/5 SUCCESS | |
| TNFRSF18 8784 GRCh37 1 1139322 1139322 + missense_variant Missense_Mutation SNP G T rs760171509 AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000379268.2:c.628C>A p.Pro210Thr p.P210T ENST00000379268 NM_004195.2 210 Ccg/Acg 5/5 SUCCESS | |
| TNFRSF18 8784 GRCh37 1 1140892 1140892 + intron_variant Intron SNP G A rs1476533322 SNU410_PANCREAS ENST00000379268.2:c.188-20C>T p.*63* ENST00000379268 NM_004195.2 SUCCESS | |
| TNFRSF18 8784 GRCh37 1 1140919 1140919 + intron_variant Intron SNP C T rs767059144 SNUC5_LARGE_INTESTINE ENST00000379268.2:c.188-47G>A p.*63* ENST00000379268 NM_004195.2 SUCCESS | |
| TNFRSF18 8784 GRCh37 1 1140973 1140973 + intron_variant Intron SNP A G MFE319_ENDOMETRIUM ENST00000379268.2:c.188-101T>C p.*63* ENST00000379268 NM_004195.2 SUCCESS | |
| 1 1140983 1140999 GGCTCCAGGGAGCAGAG GGCTCCAGGGAGCAGAG A2780_OVARY FAILED | |
| 1 1140983 1140999 GGCTCCAGGGAGCAGAG GGCTCCAGGGAGCAGAG KG1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1140983 1140999 GGCTCCAGGGAGCAGAG GGCTCCAGGGAGCAGAG NCIH2110_LUNG FAILED | |
| TNFRSF4 7293 GRCh37 1 1146930 1146930 + 3_prime_UTR_variant 3'UTR SNP C A NCIH650_LUNG ENST00000379236.3:c.*5G>T ENST00000379236 NM_003327.3 7/7 SUCCESS | |
| 1 1147002 1147002 C C GP2D_LARGE_INTESTINE FAILED | |
| TNFRSF4 7293 GRCh37 1 1147014 1147015 + splice_polypyrimidine_tract_variant,intron_variant Splice_Region INS - A HEC59_ENDOMETRIUM ENST00000379236.3:c.764-10_764-9insT p.*255* ENST00000379236 NM_003327.3 SUCCESS | |
| 1 1147169 1147169 C C OCIM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| TNFRSF4 7293 GRCh37 1 1147430 1147430 + missense_variant Missense_Mutation SNP G A rs146816735 LS123_LARGE_INTESTINE ENST00000379236.3:c.526C>T p.Pro176Ser p.P176S ENST00000379236 NM_003327.3 176 Ccc/Tcc 5/7 SUCCESS | |
| 1 1147441 1147441 G G HEC1A_ENDOMETRIUM FAILED | |
| TNFRSF4 7293 GRCh37 1 1147465 1147465 + missense_variant Missense_Mutation SNP G A KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000379236.3:c.491C>T p.Ala164Val p.A164V ENST00000379236 NM_003327.3 164 gCa/gTa 5/7 SUCCESS | |
| TNFRSF4 7293 GRCh37 1 1148896 1148896 + intron_variant Intron SNP G A rs748070586 22RV1_PROSTATE ENST00000379236.3:c.268+147C>T p.*90* ENST00000379236 NM_003327.3 SUCCESS | |
| TNFRSF4 7293 GRCh37 1 1148967 1148967 + intron_variant Intron SNP C T HEC265_ENDOMETRIUM ENST00000379236.3:c.268+76G>A p.*90* ENST00000379236 NM_003327.3 SUCCESS | |
| TNFRSF4 7293 GRCh37 1 1148999 1149000 + intron_variant Intron INS - C LS411N_LARGE_INTESTINE ENST00000379236.3:c.268+43_268+44insG p.*90* ENST00000379236 NM_003327.3 SUCCESS | |
| TNFRSF4 7293 GRCh37 1 1149103 1149103 + missense_variant Missense_Mutation SNP C G NCIH727_LUNG ENST00000379236.3:c.208G>C p.Gly70Arg p.G70R ENST00000379236 NM_003327.3 70 Ggc/Cgc 2/7 SUCCESS | |
| TNFRSF4 7293 GRCh37 1 1149133 1149133 + missense_variant Missense_Mutation SNP G T rs1187256575 RL952_ENDOMETRIUM ENST00000379236.3:c.178C>A p.Gln60Lys p.Q60K ENST00000379236 NM_003327.3 60 Cag/Aag 2/7 SUCCESS | |
| TNFRSF4 7293 GRCh37 1 1149433 1149433 + synonymous_variant Silent SNP G A rs142774962 BEN_LUNG ENST00000379236.3:c.75C>T p.Thr25= p.T25= ENST00000379236 NM_003327.3 25 acC/acT 1/7 SUCCESS | |
| B3GALT6 126792 GRCh37 1 1168223 1168223 + missense_variant Missense_Mutation SNP C A rs1478132162 IGROV1_OVARY ENST00000379198.2:c.565C>A p.Arg189Ser p.R189S ENST00000379198 NM_080605.3 189 Cgc/Agc 1/1 SUCCESS | |
| B3GALT6 126792 GRCh37 1 1168239 1168240 + frameshift_variant Frame_Shift_Ins INS - G rs533071750 CW2_LARGE_INTESTINE ENST00000379198.2:c.588dup p.Arg197AlafsTer246 p.R197Afs*246 ENST00000379198 NM_080605.3 194 ccg/ccGg 1/1 SUCCESS | |
| B3GALT6 126792 GRCh37 1 1168239 1168240 + frameshift_variant Frame_Shift_Ins INS - G rs533071750 RKO_LARGE_INTESTINE ENST00000379198.2:c.588dup p.Arg197AlafsTer246 p.R197Afs*246 ENST00000379198 NM_080605.3 194 ccg/ccGg 1/1 SUCCESS | |
| 1 1168240 1168240 G G DV90_LUNG FAILED | |
| 1 1168240 1168240 G G TGBC11TKB_STOMACH FAILED | |
| B3GALT6 126792 GRCh37 1 1168262 1168262 + missense_variant Missense_Mutation SNP G A rs377718922 CAPAN1_PANCREAS ENST00000379198.2:c.604G>A p.Ala202Thr p.A202T ENST00000379198 NM_080605.3 202 Gcc/Acc 1/1 SUCCESS | |
| B3GALT6 126792 GRCh37 1 1168355 1168355 + missense_variant Missense_Mutation SNP G A SW1783_CENTRAL_NERVOUS_SYSTEM ENST00000379198.2:c.697G>A p.Asp233Asn p.D233N ENST00000379198 NM_080605.3 233 Gac/Aac 1/1 SUCCESS | |
| 1 1177919 1177919 T T A4FUK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1177919 1177919 T T ALLSIL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1177919 1177919 T T AML193_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1177919 1177919 T T CL14_LARGE_INTESTINE FAILED | |
| 1 1177919 1177919 T T EFE184_ENDOMETRIUM FAILED | |
| 1 1177919 1177919 T T HCC33_LUNG FAILED | |
| 1 1177919 1177919 T T HEC1A_ENDOMETRIUM FAILED | |
| 1 1177919 1177919 T T HEC1B_ENDOMETRIUM FAILED | |
| 1 1177919 1177919 T T HEC59_ENDOMETRIUM FAILED | |
| 1 1177919 1177919 T T HLF_LIVER FAILED | |
| 1 1177919 1177919 T T HSC2_UPPER_AERODIGESTIVE_TRACT FAILED | |
| 1 1177919 1177919 T T HUPT3_PANCREAS FAILED | |
| 1 1177919 1177919 T T HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1177919 1177919 T T JHH7_LIVER FAILED | |
| 1 1177919 1177919 T T JHOS4_OVARY FAILED | |
| 1 1177919 1177919 T T KMRC1_KIDNEY FAILED | |
| 1 1177919 1177919 T T KNS62_LUNG FAILED | |
| 1 1177919 1177919 T T KU1919_URINARY_TRACT FAILED | |
| 1 1177919 1177919 T T KYSE410_OESOPHAGUS FAILED | |
| 1 1177919 1177919 T T KYSE450_OESOPHAGUS FAILED | |
| 1 1177919 1177919 T T MEWO_SKIN FAILED | |
| 1 1177919 1177919 T T NCIH1651_LUNG FAILED | |
| 1 1177919 1177919 T T NCIH1703_LUNG FAILED | |
| 1 1177919 1177919 T T NCIH2171_LUNG FAILED | |
| 1 1177919 1177919 T T NCIH841_LUNG FAILED | |
| 1 1177919 1177919 T T NH6_AUTONOMIC_GANGLIA FAILED | |
| 1 1177919 1177919 T T OVSAHO_OVARY FAILED | |
| 1 1177919 1177919 T T PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1177919 1177919 T T PK1_PANCREAS FAILED | |
| 1 1177919 1177919 T T RERFLCAI_LUNG FAILED | |
| 1 1177919 1177919 T T RH41_SOFT_TISSUE FAILED | |
| 1 1177919 1177919 T T SHP77_LUNG FAILED | |
| 1 1177919 1177919 T T SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1177919 1177919 T T SKLU1_LUNG FAILED | |
| 1 1177919 1177919 T T SNU475_LIVER FAILED | |
| 1 1177919 1177919 T T SNU520_STOMACH FAILED | |
| 1 1177919 1177919 T T SNU5_STOMACH FAILED | |
| 1 1177919 1177919 T T SUDHL10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1177919 1177919 T T U87MG_CENTRAL_NERVOUS_SYSTEM FAILED | |
| 1 1177919 1177919 T T YH13_CENTRAL_NERVOUS_SYSTEM FAILED | |
| FAM132A GRCh37 1 1177992 1177992 + missense_variant Missense_Mutation SNP C T KYSE270_OESOPHAGUS ENST00000330388.2:c.845G>A p.Gly282Asp p.G282D ENST00000330388 NM_001014980.2 282 gGc/gAc 8/8 SUCCESS | |
| FAM132A GRCh37 1 1178241 1178241 + stop_gained Nonsense_Mutation SNP G A rs1270898055 NH6_AUTONOMIC_GANGLIA ENST00000330388.2:c.784C>T p.Gln262Ter p.Q262* ENST00000330388 NM_001014980.2 262 Cag/Tag 7/8 SUCCESS | |
| FAM132A GRCh37 1 1178255 1178255 + missense_variant Missense_Mutation SNP C T rs369998821 FADU_UPPER_AERODIGESTIVE_TRACT ENST00000330388.2:c.770G>A p.Arg257Lys p.R257K ENST00000330388 NM_001014980.2 257 aGg/aAg 7/8 SUCCESS | |
| FAM132A GRCh37 1 1179396 1179396 + missense_variant Missense_Mutation SNP G A rs374726053 HEC1A_ENDOMETRIUM ENST00000330388.2:c.469C>T p.Arg157Trp p.R157W ENST00000330388 NM_001014980.2 157 Cgg/Tgg 4/8 SUCCESS | |
| FAM132A GRCh37 1 1179657 1179658 + splice_region_variant,intron_variant Splice_Region INS - G rs1162144158 SNUC2A_LARGE_INTESTINE ENST00000330388.2:c.295-3dup p.X99_splice ENST00000330388 NM_001014980.2 99 SUCCESS | |
| FAM132A GRCh37 1 1179817 1179817 + missense_variant Missense_Mutation SNP G A rs376860936 HEC6_ENDOMETRIUM ENST00000330388.2:c.238C>T p.Arg80Trp p.R80W ENST00000330388 NM_001014980.2 80 Cgg/Tgg 2/8 SUCCESS | |
| DVL1 1855 GRCh37 1 1271573 1271574 + missense_variant Missense_Mutation DNP GG AA MEWO_SKIN ENST00000378888.5:c.2036_2037delinsTT p.Ser679Phe p.S679F ENST00000378888 679 tCC/tTT 15/15 SUCCESS | |
| DVL1 1855 GRCh37 1 1271706 1271706 + missense_variant Missense_Mutation SNP G A rs1272007310 HCC1395_BREAST ENST00000378888.5:c.1904C>T p.Ser635Leu p.S635L ENST00000378888 635 tCg/tTg 15/15 SUCCESS | |
| DVL1 1855 GRCh37 1 1271722 1271722 + missense_variant Missense_Mutation SNP G T ISHIKAWAHERAKLIO02ER_ENDOMETRIUM ENST00000378888.5:c.1888C>A p.Pro630Thr p.P630T ENST00000378888 630 Cca/Aca 15/15 SUCCESS | |
| DVL1 1855 GRCh37 1 1271750 1271750 + synonymous_variant Silent SNP C T rs370205492 MKN7_STOMACH ENST00000378888.5:c.1860G>A p.Pro620= p.P620= ENST00000378888 620 ccG/ccA 15/15 SUCCESS | |
| DVL1 1855 GRCh37 1 1271794 1271794 + missense_variant Missense_Mutation SNP G A rs1278187392 MDAMB435S_SKIN ENST00000378888.5:c.1816C>T p.His606Tyr p.H606Y ENST00000378888 606 Cac/Tac 15/15 SUCCESS | |
| DVL1 1855 GRCh37 1 1271829 1271829 + missense_variant Missense_Mutation SNP G A rs368894487 WM1799_SKIN ENST00000378888.5:c.1781C>T p.Ala594Val p.A594V ENST00000378888 594 gCg/gTg 15/15 SUCCESS | |
| DVL1 1855 GRCh37 1 1271833 1271833 + missense_variant Missense_Mutation SNP G A rs372681220 DMS79_LUNG ENST00000378888.5:c.1777C>T p.Arg593Trp p.R593W ENST00000378888 593 Cgg/Tgg 15/15 SUCCESS | |
| DVL1 1855 GRCh37 1 1271858 1271858 + synonymous_variant Silent SNP C A KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000378888.5:c.1752G>T p.Arg584= p.R584= ENST00000378888 584 cgG/cgT 15/15 SUCCESS | |
| DVL1 1855 GRCh37 1 1272127 1272127 + intron_variant Intron SNP C G rs1048828688 NCO2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000378888.5:c.1715-232G>C p.*572* ENST00000378888 SUCCESS | |
| 1 1273340 1273340 A A PANC0213_PANCREAS FAILED | |
| 1 1273340 1273340 A A SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1273364 1273366 CTG CTG PECAPJ41CLONED2_UPPER_AERODIGESTIVE_TRACT FAILED | |
| DVL1 1855 GRCh37 1 1273933 1273933 + stop_gained Nonsense_Mutation SNP C T CW2_LARGE_INTESTINE ENST00000378888.5:c.1308G>A p.Trp436Ter p.W436* ENST00000378888 436 tgG/tgA 12/15 SUCCESS | |
| DVL1 1855 GRCh37 1 1274018 1274018 + missense_variant Missense_Mutation SNP G A rs375802354 JHH7_LIVER ENST00000378888.5:c.1223C>T p.Pro408Leu p.P408L ENST00000378888 408 cCg/cTg 12/15 SUCCESS | |
| DVL1 1855 GRCh37 1 1274901 1274901 + intron_variant Intron SNP C G rs776213572 AN3CA_ENDOMETRIUM ENST00000378888.5:c.1054+61G>C p.*352* ENST00000378888 SUCCESS | |
| DVL1 1855 GRCh37 1 1275121 1275121 + missense_variant Missense_Mutation SNP C A RL952_ENDOMETRIUM ENST00000378888.5:c.981G>T p.Gln327His p.Q327H ENST00000378888 327 caG/caT 9/15 SUCCESS | |
| DVL1 1855 GRCh37 1 1275123 1275123 + stop_gained Nonsense_Mutation SNP G A HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000378888.5:c.979C>T p.Gln327Ter p.Q327* ENST00000378888 327 Cag/Tag 9/15 SUCCESS | |
| DVL1 1855 GRCh37 1 1275151 1275151 + synonymous_variant Silent SNP G A rs779553612 OVCAR8_OVARY ENST00000378888.5:c.951C>T p.Ala317= p.A317= ENST00000378888 317 gcC/gcT 9/15 SUCCESS | |
| DVL1 1855 GRCh37 1 1275163 1275163 + synonymous_variant Silent SNP G A rs747350307 DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000378888.5:c.939C>T p.Ser313= p.S313= ENST00000378888 313 agC/agT 9/15 SUCCESS | |
| DVL1 1855 GRCh37 1 1275163 1275163 + missense_variant Missense_Mutation SNP G C HUCCT1_BILIARY_TRACT ENST00000378888.5:c.939C>G p.Ser313Arg p.S313R ENST00000378888 313 agC/agG 9/15 SUCCESS | |
| DVL1 1855 GRCh37 1 1275167 1275167 + missense_variant Missense_Mutation SNP A G rs377132750 LS1034_LARGE_INTESTINE ENST00000378888.5:c.935T>C p.Met312Thr p.M312T ENST00000378888 312 aTg/aCg 9/15 SUCCESS | |
| DVL1 1855 GRCh37 1 1275457 1275457 + synonymous_variant Silent SNP G A rs201665095 ML1_THYROID ENST00000378888.5:c.870C>T p.Ala290= p.A290= ENST00000378888 290 gcC/gcT 8/15 SUCCESS | |
| DVL1 1855 GRCh37 1 1275478 1275478 + synonymous_variant Silent SNP G A DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000378888.5:c.849C>T p.Ile283= p.I283= ENST00000378888 283 atC/atT 8/15 SUCCESS | |
| DVL1 1855 GRCh37 1 1275537 1275537 + missense_variant Missense_Mutation SNP T C NCIH1105_LUNG ENST00000378888.5:c.790A>G p.Ile264Val p.I264V ENST00000378888 264 Atc/Gtc 8/15 SUCCESS | |
| DVL1 1855 GRCh37 1 1275553 1275553 + synonymous_variant Silent SNP T C TE1_OESOPHAGUS ENST00000378888.5:c.774A>G p.Arg258= p.R258= ENST00000378888 258 agA/agG 8/15 SUCCESS | |
| DVL1 1855 GRCh37 1 1275649 1275649 + synonymous_variant Silent SNP G A rs147684126 JHOM2B_OVARY ENST00000378888.5:c.747C>T p.Ile249= p.I249= ENST00000378888 249 atC/atT 7/15 SUCCESS | |
| DVL1 1855 GRCh37 1 1275655 1275655 + synonymous_variant Silent SNP G T SNU1_STOMACH ENST00000378888.5:c.741C>A p.Leu247= p.L247= ENST00000378888 247 ctC/ctA 7/15 SUCCESS | |
| DVL1 1855 GRCh37 1 1275689 1275689 + missense_variant Missense_Mutation SNP G A rs777653519 A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000378888.5:c.707C>T p.Ser236Phe p.S236F ENST00000378888 236 tCc/tTc 7/15 SUCCESS | |
| DVL1 1855 GRCh37 1 1277046 1277046 + splice_donor_variant Splice_Site SNP C T CW2_LARGE_INTESTINE ENST00000378888.5:c.605+1G>A p.X202_splice ENST00000378888 202 SUCCESS | |
| DVL1 1855 GRCh37 1 1277162 1277162 + missense_variant Missense_Mutation SNP T C rs376205129 CAL62_THYROID ENST00000378888.5:c.490A>G p.Arg164Gly p.R164G ENST00000378888 164 Agg/Ggg 5/15 SUCCESS | |
| DVL1 1855 GRCh37 1 1277184 1277184 + splice_region_variant,synonymous_variant Splice_Region SNP G A rs201343862 JHH7_LIVER ENST00000378888.5:c.468C>T p.X156_splice ENST00000378888 156 gcC/gcT 5/15 SUCCESS | |
| DVL1 1855 GRCh37 1 1277184 1277184 + splice_region_variant,synonymous_variant Splice_Region SNP G A rs201343862 KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000378888.5:c.468C>T p.X156_splice ENST00000378888 156 gcC/gcT 5/15 SUCCESS | |
| DVL1 1855 GRCh37 1 1277184 1277184 + splice_region_variant,synonymous_variant Splice_Region SNP G A rs201343862 NUGC3_STOMACH ENST00000378888.5:c.468C>T p.X156_splice ENST00000378888 156 gcC/gcT 5/15 SUCCESS | |
| DVL1 1855 GRCh37 1 1277184 1277184 + splice_region_variant,synonymous_variant Splice_Region SNP G A rs201343862 SNU1272_KIDNEY ENST00000378888.5:c.468C>T p.X156_splice ENST00000378888 156 gcC/gcT 5/15 SUCCESS | |
| DVL1 1855 GRCh37 1 1277184 1277184 + splice_region_variant,synonymous_variant Splice_Region SNP G A rs201343862 SNU175_LARGE_INTESTINE ENST00000378888.5:c.468C>T p.X156_splice ENST00000378888 156 gcC/gcT 5/15 SUCCESS | |
| DVL1 1855 GRCh37 1 1277184 1277184 + splice_region_variant,synonymous_variant Splice_Region SNP G A rs201343862 SNU719_STOMACH ENST00000378888.5:c.468C>T p.X156_splice ENST00000378888 156 gcC/gcT 5/15 SUCCESS | |
| DVL1 1855 GRCh37 1 1277233 1277233 + intron_variant Intron SNP C A HEC251_ENDOMETRIUM ENST00000378888.5:c.467-48G>T p.*156* ENST00000378888 SUCCESS | |
| DVL1 1855 GRCh37 1 1277304 1277304 + intron_variant Intron SNP C T rs1195120257 HEC108_ENDOMETRIUM ENST00000378888.5:c.467-119G>A p.*156* ENST00000378888 SUCCESS | |
| 1 1277380 1277380 G G LS411N_LARGE_INTESTINE FAILED | |
| DVL1 1855 GRCh37 1 1277398 1277398 + intron_variant Intron SNP G A rs752494902 HUT102_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000378888.5:c.466+35C>T p.*156* ENST00000378888 SUCCESS | |
| DVL1 1855 GRCh37 1 1277446 1277446 + synonymous_variant Silent SNP C T rs1161930419 NCIH522_LUNG ENST00000378888.5:c.453G>A p.Arg151= p.R151= ENST00000378888 151 cgG/cgA 4/15 SUCCESS | |
| DVL1 1855 GRCh37 1 1277450 1277450 + missense_variant Missense_Mutation SNP C T rs1375216646 SNU407_LARGE_INTESTINE ENST00000378888.5:c.449G>A p.Arg150His p.R150H ENST00000378888 150 cGc/cAc 4/15 SUCCESS | |
| DVL1 1855 GRCh37 1 1277460 1277460 + missense_variant Missense_Mutation SNP G A rs1336850278 PANC0327_PANCREAS ENST00000378888.5:c.439C>T p.Arg147Cys p.R147C ENST00000378888 147 Cgt/Tgt 4/15 SUCCESS | |
| DVL1 1855 GRCh37 1 1277485 1277485 + missense_variant Missense_Mutation SNP C G MDAMB468_BREAST ENST00000378888.5:c.414G>C p.Glu138Asp p.E138D ENST00000378888 138 gaG/gaC 4/15 SUCCESS | |
| DVL1 1855 GRCh37 1 1284305 1284305 + missense_variant Missense_Mutation SNP G T SNU81_LARGE_INTESTINE ENST00000378888.5:c.141C>A p.Phe47Leu p.F47L ENST00000378888 47 ttC/ttA 1/15 SUCCESS | |
| DVL1 1855 GRCh37 1 1284337 1284337 + missense_variant Missense_Mutation SNP G A 639V_URINARY_TRACT ENST00000378888.5:c.109C>T p.Leu37Phe p.L37F ENST00000378888 37 Ctc/Ttc 1/15 SUCCESS | |
| DVL1 1855 GRCh37 1 1284367 1284367 + missense_variant Missense_Mutation SNP G A HEPG2_LIVER ENST00000378888.5:c.79C>T p.Arg27Cys p.R27C ENST00000378888 27 Cgc/Tgc 1/15 SUCCESS | |
| DVL1 1855 GRCh37 1 1284448 1284448 + 5_prime_UTR_variant 5'UTR SNP C T rs1643973538 EN_ENDOMETRIUM ENST00000378888.5:c.-3G>A p.*1* ENST00000378888 1/15 SUCCESS | |
| DVL1 1855 GRCh37 1 1284448 1284448 + 5_prime_UTR_variant 5'UTR SNP C T rs1643973538 SBC5_LUNG ENST00000378888.5:c.-3G>A p.*1* ENST00000378888 1/15 SUCCESS | |
| DVL1 1855 GRCh37 1 1284462 1284462 + 5_prime_UTR_variant 5'UTR SNP G A rs761539220 NCIH2172_LUNG ENST00000378888.5:c.-17C>T p.*6* ENST00000378888 1/15 SUCCESS | |
| SSU72 29101 GRCh37 1 1477297 1477297 + 3_prime_UTR_variant 3'UTR SNP T C rs982571840 NCO2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000291386.3:c.*149A>G ENST00000291386 NM_014188.2 5/5 SUCCESS | |
| 1 1477324 1477325 CA CA 8305C_THYROID FAILED | |
| 1 1477324 1477325 CA CA ECGI10_OESOPHAGUS FAILED | |
| 1 1477324 1477325 CA CA GCIY_STOMACH FAILED | |
| 1 1477324 1477325 CA CA HUCCT1_BILIARY_TRACT FAILED | |
| 1 1477324 1477325 CA CA JHH1_LIVER FAILED | |
| 1 1477324 1477325 CA CA JHOM2B_OVARY FAILED | |
| 1 1477324 1477325 CA CA JHOS4_OVARY FAILED | |
| 1 1477324 1477325 CA CA KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1477324 1477325 CA CA KMRC20_KIDNEY FAILED | |
| 1 1477324 1477325 CA CA KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1477324 1477325 CA CA KYM1_SOFT_TISSUE FAILED | |
| 1 1477324 1477325 CA CA LMSU_STOMACH FAILED | |
| 1 1477324 1477325 CA CA MCAS_OVARY FAILED | |
| 1 1477324 1477325 CA CA ME1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1477324 1477325 CA CA MEG01_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1477324 1477325 CA CA NCIH716_LARGE_INTESTINE FAILED | |
| 1 1477324 1477325 CA CA NMCG1_CENTRAL_NERVOUS_SYSTEM FAILED | |
| 1 1477324 1477325 CA CA PL21_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1477324 1477325 CA CA RERFGC1B_STOMACH FAILED | |
| 1 1477324 1477325 CA CA RERFLCAD2_LUNG FAILED | |
| 1 1477324 1477325 CA CA RMUGS_OVARY FAILED | |
| 1 1477324 1477325 CA CA SNU1196_BILIARY_TRACT FAILED | |
| 1 1477324 1477325 CA CA SNU308_BILIARY_TRACT FAILED | |
| 1 1477324 1477325 CA CA SNU478_BILIARY_TRACT FAILED | |
| 1 1477324 1477325 CA CA TE1_OESOPHAGUS FAILED | |
| 1 1477324 1477325 CA CA UACC812_BREAST FAILED | |
| 1 1477324 1477325 CA CA YD10B_UPPER_AERODIGESTIVE_TRACT FAILED | |
| 1 1477324 1477325 CA CA YD38_UPPER_AERODIGESTIVE_TRACT FAILED | |
| SSU72 29101 GRCh37 1 1477435 1477435 + 3_prime_UTR_variant 3'UTR SNP G A rs374293278 SCC4_UPPER_AERODIGESTIVE_TRACT ENST00000291386.3:c.*11C>T ENST00000291386 NM_014188.2 5/5 SUCCESS | |
| SSU72 29101 GRCh37 1 1477480 1477480 + missense_variant Missense_Mutation SNP C T SW948_LARGE_INTESTINE ENST00000291386.3:c.551G>A p.Gly184Asp p.G184D ENST00000291386 NM_014188.2 184 gGc/gAc 5/5 SUCCESS | |
| SSU72 29101 GRCh37 1 1477483 1477483 + missense_variant Missense_Mutation SNP C G CAL27_UPPER_AERODIGESTIVE_TRACT ENST00000291386.3:c.548G>C p.Ser183Thr p.S183T ENST00000291386 NM_014188.2 183 aGt/aCt 5/5 SUCCESS | |
| SSU72 29101 GRCh37 1 1479094 1479094 + intron_variant Intron SNP T C rs530364192 SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000291386.3:c.483+155A>G p.*161* ENST00000291386 NM_014188.2 SUCCESS | |
| SSU72 29101 GRCh37 1 1479105 1479106 + intron_variant Intron INS - CT rs79833722 AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000291386.3:c.483+143_483+144insAG p.*161* ENST00000291386 NM_014188.2 SUCCESS | |
| SSU72 29101 GRCh37 1 1479105 1479106 + intron_variant Intron INS - CT rs79833722 CFPAC1_PANCREAS ENST00000291386.3:c.483+143_483+144insAG p.*161* ENST00000291386 NM_014188.2 SUCCESS | |
| SSU72 29101 GRCh37 1 1479105 1479106 + intron_variant Intron INS - CT rs79833722 CMK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000291386.3:c.483+143_483+144insAG p.*161* ENST00000291386 NM_014188.2 SUCCESS | |
| 1 1479129 1479130 CT CT NCIH1048_LUNG FAILED | |
| SSU72 29101 GRCh37 1 1479195 1479195 + intron_variant Intron SNP T C rs536073290 NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000291386.3:c.483+54A>G p.*161* ENST00000291386 NM_014188.2 SUCCESS | |
| SSU72 29101 GRCh37 1 1479227 1479227 + intron_variant Intron SNP C T rs202237775 NCIH211_LUNG ENST00000291386.3:c.483+22G>A p.*161* ENST00000291386 NM_014188.2 SUCCESS | |
| SSU72 29101 GRCh37 1 1479355 1479355 + missense_variant Missense_Mutation SNP C T SW48_LARGE_INTESTINE ENST00000291386.3:c.377G>A p.Arg126Lys p.R126K ENST00000291386 NM_014188.2 126 aGa/aAa 4/5 SUCCESS | |
| SSU72 29101 GRCh37 1 1480268 1480268 + missense_variant Missense_Mutation SNP C A CFPAC1_PANCREAS ENST00000291386.3:c.339G>T p.Glu113Asp p.E113D ENST00000291386 NM_014188.2 113 gaG/gaT 3/5 SUCCESS | |
| SSU72 29101 GRCh37 1 1480273 1480273 + missense_variant Missense_Mutation SNP C T BT483_BREAST ENST00000291386.3:c.334G>A p.Glu112Lys p.E112K ENST00000291386 NM_014188.2 112 Gaa/Aaa 3/5 SUCCESS | |
| SSU72 29101 GRCh37 1 1480273 1480273 + missense_variant Missense_Mutation SNP C T KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000291386.3:c.334G>A p.Glu112Lys p.E112K ENST00000291386 NM_014188.2 112 Gaa/Aaa 3/5 SUCCESS | |
| SSU72 29101 GRCh37 1 1499929 1499929 + intron_variant Intron SNP A G rs563009819 HS739T_BREAST ENST00000291386.3:c.224+224T>C p.*75* ENST00000291386 NM_014188.2 SUCCESS | |
| SSU72 29101 GRCh37 1 1500054 1500054 + intron_variant Intron SNP C T NCIH520_LUNG ENST00000291386.3:c.224+99G>A p.*75* ENST00000291386 NM_014188.2 SUCCESS | |
| SSU72 29101 GRCh37 1 1500085 1500085 + intron_variant Intron SNP G A rs768621008 OVK18_OVARY ENST00000291386.3:c.224+68C>T p.*75* ENST00000291386 NM_014188.2 SUCCESS | |
| SSU72 29101 GRCh37 1 1500144 1500144 + intron_variant Intron SNP C T NCIH1436_LUNG ENST00000291386.3:c.224+9G>A p.*75* ENST00000291386 NM_014188.2 SUCCESS | |
| SSU72 29101 GRCh37 1 1500253 1500253 + missense_variant Missense_Mutation SNP C T HEC1A_ENDOMETRIUM ENST00000291386.3:c.124G>A p.Val42Met p.V42M ENST00000291386 NM_014188.2 42 Gtg/Atg 2/5 SUCCESS | |
| SSU72 29101 GRCh37 1 1500253 1500253 + missense_variant Missense_Mutation SNP C T HEC1B_ENDOMETRIUM ENST00000291386.3:c.124G>A p.Val42Met p.V42M ENST00000291386 NM_014188.2 42 Gtg/Atg 2/5 SUCCESS | |
| CDK11B 984 GRCh37 1 1571728 1571728 + missense_variant Missense_Mutation SNP A G SNU1076_UPPER_AERODIGESTIVE_TRACT ENST00000407249.3:c.2042T>C p.Leu681Pro p.L681P ENST00000407249 681 cTg/cCg 19/21 SUCCESS | |
| CDK11B 984 GRCh37 1 1571815 1571815 + stop_gained Nonsense_Mutation SNP C T HS746T_STOMACH ENST00000407249.3:c.1955G>A p.Trp652Ter p.W652* ENST00000407249 652 tGg/tAg 19/21 SUCCESS | |
| CDK11B 984 GRCh37 1 1572116 1572116 + missense_variant Missense_Mutation SNP G T HCT15_LARGE_INTESTINE ENST00000407249.3:c.1854C>A p.Phe618Leu p.F618L ENST00000407249 618 ttC/ttA 18/21 SUCCESS | |
| CDK11B 984 GRCh37 1 1572290 1572290 + missense_variant Missense_Mutation SNP T C rs1481080808 MFE319_ENDOMETRIUM ENST00000407249.3:c.1778A>G p.Tyr593Cys p.Y593C ENST00000407249 593 tAc/tGc 17/21 SUCCESS | |
| CDK11B 984 GRCh37 1 1572501 1572501 + missense_variant Missense_Mutation SNP A G EN_ENDOMETRIUM ENST00000407249.3:c.1643T>C p.Ile548Thr p.I548T ENST00000407249 548 aTc/aCc 16/21 SUCCESS | |
| CDK11B 984 GRCh37 1 1572782 1572782 + missense_variant Missense_Mutation SNP G A AN3CA_ENDOMETRIUM ENST00000407249.3:c.1567C>T p.Pro523Ser p.P523S ENST00000407249 523 Ccc/Tcc 15/21 SUCCESS | |
| CDK11B 984 GRCh37 1 1572783 1572783 + missense_variant Missense_Mutation SNP C A RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000407249.3:c.1566G>T p.Gln522His p.Q522H ENST00000407249 522 caG/caT 15/21 SUCCESS | |
| CDK11B 984 GRCh37 1 1573135 1573135 + missense_variant Missense_Mutation SNP C T rs781127365 RKO_LARGE_INTESTINE ENST00000407249.3:c.1462G>A p.Val488Ile p.V488I ENST00000407249 488 Gtc/Atc 14/21 SUCCESS | |
| CDK11B 984 GRCh37 1 1575714 1575714 + missense_variant Missense_Mutation SNP T C HEC59_ENDOMETRIUM ENST00000407249.3:c.1184A>G p.Asp395Gly p.D395G ENST00000407249 395 gAc/gGc 12/21 SUCCESS | |
| CDK11B 984 GRCh37 1 1575777 1575777 + missense_variant Missense_Mutation SNP C T SNUC5_LARGE_INTESTINE ENST00000407249.3:c.1121G>A p.Ser374Asn p.S374N ENST00000407249 374 aGt/aAt 12/21 SUCCESS | |
| 1 1577085 1577093 TCCTCCTCC TCCTCCTCC U937_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| CDK11A 728642 GRCh37 1 1635533 1635533 + missense_variant Missense_Mutation SNP G C rs778084332 CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000378633.1:c.1748C>G p.Thr583Ser p.T583S ENST00000378633 583 aCc/aGc 16/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1635536 1635537 + frameshift_variant Frame_Shift_Ins INS - A rs747876059 BICR56_UPPER_AERODIGESTIVE_TRACT ENST00000378633.1:c.1744dup p.Tyr582LeufsTer66 p.Y582Lfs*66 ENST00000378633 582 tac/tTac 16/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1635536 1635537 + frameshift_variant Frame_Shift_Ins INS - A rs747876059 CAL120_BREAST ENST00000378633.1:c.1744dup p.Tyr582LeufsTer66 p.Y582Lfs*66 ENST00000378633 582 tac/tTac 16/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1635536 1635537 + frameshift_variant Frame_Shift_Ins INS - A rs747876059 KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000378633.1:c.1744dup p.Tyr582LeufsTer66 p.Y582Lfs*66 ENST00000378633 582 tac/tTac 16/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1635549 1635549 + missense_variant Missense_Mutation SNP G T rs183405236 JHH4_LIVER ENST00000378633.1:c.1732C>A p.Pro578Thr p.P578T ENST00000378633 578 Cct/Act 16/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1635549 1635549 + missense_variant Missense_Mutation SNP G T rs183405236 NMCG1_CENTRAL_NERVOUS_SYSTEM ENST00000378633.1:c.1732C>A p.Pro578Thr p.P578T ENST00000378633 578 Cct/Act 16/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1635665 1635665 + synonymous_variant Silent SNP G T IGROV1_OVARY ENST00000378633.1:c.1692C>A p.Leu564= p.L564= ENST00000378633 564 ctC/ctA 15/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1635730 1635730 + missense_variant Missense_Mutation SNP C T rs372429949 HCC2218_BREAST ENST00000378633.1:c.1627G>A p.Asp543Asn p.D543N ENST00000378633 543 Gac/Aac 15/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1635755 1635755 + synonymous_variant Silent SNP C G rs376932954 CALU3_LUNG ENST00000378633.1:c.1602G>C p.Leu534= p.L534= ENST00000378633 534 ctG/ctC 15/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1635784 1635784 + splice_acceptor_variant Splice_Site SNP C A LNCAPCLONEFGC_PROSTATE ENST00000378633.1:c.1574-1G>T p.X525_splice ENST00000378633 525 SUCCESS | |
| CDK11A 728642 GRCh37 1 1635849 1635849 + intron_variant Intron SNP G A rs550465982 KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000378633.1:c.1574-66C>T p.*525* ENST00000378633 SUCCESS | |
| CDK11A 728642 GRCh37 1 1635883 1635883 + intron_variant Intron SNP T A SNU1077_ENDOMETRIUM ENST00000378633.1:c.1574-100A>T p.*525* ENST00000378633 SUCCESS | |
| CDK11A 728642 GRCh37 1 1635905 1635905 + intron_variant Intron SNP C A rs371511023 RMUGS_OVARY ENST00000378633.1:c.1573+84G>T p.*525* ENST00000378633 SUCCESS | |
| CDK11A 728642 GRCh37 1 1635905 1635905 + intron_variant Intron SNP C A rs371511023 SNU878_LIVER ENST00000378633.1:c.1573+84G>T p.*525* ENST00000378633 SUCCESS | |
| CDK11A 728642 GRCh37 1 1635934 1635934 + intron_variant Intron SNP G A NCIH1703_LUNG ENST00000378633.1:c.1573+55C>T p.*525* ENST00000378633 SUCCESS | |
| CDK11A 728642 GRCh37 1 1635973 1635973 + intron_variant Intron SNP C T rs2377231 IM95_STOMACH ENST00000378633.1:c.1573+16G>A p.*525* ENST00000378633 SUCCESS | |
| CDK11A 728642 GRCh37 1 1635973 1635973 + intron_variant Intron SNP C T rs2377231 NCIH2110_LUNG ENST00000378633.1:c.1573+16G>A p.*525* ENST00000378633 SUCCESS | |
| CDK11A 728642 GRCh37 1 1636003 1636003 + missense_variant Missense_Mutation SNP T C GP2D_LARGE_INTESTINE ENST00000378633.1:c.1559A>G p.Gln520Arg p.Q520R ENST00000378633 520 cAg/cGg 14/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1636065 1636065 + synonymous_variant Silent SNP C T LNCAPCLONEFGC_PROSTATE ENST00000378633.1:c.1497G>A p.Lys499= p.K499= ENST00000378633 499 aaG/aaA 14/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1636158 1636158 + intron_variant Intron SNP C T rs2377230 SKUT1_SOFT_TISSUE ENST00000378633.1:c.1468-64G>A p.*490* ENST00000378633 SUCCESS | |
| CDK11A 728642 GRCh37 1 1636187 1636187 + intron_variant Intron SNP C T rs527409517 DOHH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000378633.1:c.1468-93G>A p.*490* ENST00000378633 SUCCESS | |
| CDK11A 728642 GRCh37 1 1636297 1636297 + intron_variant Intron SNP G A rs2377227 GSS_STOMACH ENST00000378633.1:c.1467+46C>T p.*489* ENST00000378633 SUCCESS | |
| CDK11A 728642 GRCh37 1 1636297 1636297 + intron_variant Intron SNP G A rs2377227 HS852T_SKIN ENST00000378633.1:c.1467+46C>T p.*489* ENST00000378633 SUCCESS | |
| CDK11A 728642 GRCh37 1 1636297 1636297 + intron_variant Intron SNP G A rs2377227 LK2_LUNG ENST00000378633.1:c.1467+46C>T p.*489* ENST00000378633 SUCCESS | |
| CDK11A 728642 GRCh37 1 1636307 1636307 + intron_variant Intron SNP T C rs578098585 SNU201_CENTRAL_NERVOUS_SYSTEM ENST00000378633.1:c.1467+36A>G p.*489* ENST00000378633 SUCCESS | |
| CDK11A 728642 GRCh37 1 1636309 1636310 + intron_variant Intron INS - A rs567558972 RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000378633.1:c.1467+33_1467+34insT p.*489* ENST00000378633 SUCCESS | |
| CDK11A 728642 GRCh37 1 1636309 1636310 + intron_variant Intron INS - A rs567558972 SUPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000378633.1:c.1467+33_1467+34insT p.*489* ENST00000378633 SUCCESS | |
| CDK11A 728642 GRCh37 1 1636399 1636399 + missense_variant Missense_Mutation SNP G T A704_KIDNEY ENST00000378633.1:c.1411C>A p.Leu471Met p.L471M ENST00000378633 471 Ctg/Atg 13/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1636450 1636450 + synonymous_variant Silent SNP G A LS411N_LARGE_INTESTINE ENST00000378633.1:c.1360C>T p.Leu454= p.L454= ENST00000378633 454 Cta/Tta 13/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1638857 1638857 + synonymous_variant Silent SNP C T rs548826115 NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000378633.1:c.1245G>A p.Pro415= p.P415= ENST00000378633 415 ccG/ccA 11/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1647797 1647797 + missense_variant Missense_Mutation SNP G A PECAPJ41CLONED2_UPPER_AERODIGESTIVE_TRACT ENST00000378633.1:c.446C>T p.Ser149Phe p.S149F ENST00000378633 149 tCc/tTc 5/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1647806 1647806 + missense_variant Missense_Mutation SNP C A AN3CA_ENDOMETRIUM ENST00000378633.1:c.437G>T p.Arg146Met p.R146M ENST00000378633 146 aGg/aTg 5/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1647893 1647894 + inframe_insertion In_Frame_Ins INS - TTTCTT rs144636354 COLO684_ENDOMETRIUM ENST00000378633.1:c.344_349dup p.Lys115_Glu116dup p.K115_E116dup ENST00000378633 115 aga/aAAGAAAga 5/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1647893 1647894 + inframe_insertion In_Frame_Ins INS - TTTCTT rs144636354 DETROIT562_UPPER_AERODIGESTIVE_TRACT ENST00000378633.1:c.344_349dup p.Lys115_Glu116dup p.K115_E116dup ENST00000378633 115 aga/aAAGAAAga 5/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1647893 1647894 + inframe_insertion In_Frame_Ins INS - TTTCTT rs144636354 ES2_OVARY ENST00000378633.1:c.344_349dup p.Lys115_Glu116dup p.K115_E116dup ENST00000378633 115 aga/aAAGAAAga 5/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1647893 1647894 + inframe_insertion In_Frame_Ins INS - TTTCTT rs144636354 F36P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000378633.1:c.344_349dup p.Lys115_Glu116dup p.K115_E116dup ENST00000378633 115 aga/aAAGAAAga 5/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1647893 1647894 + inframe_insertion In_Frame_Ins INS - TTTCTT rs144636354 KPNYN_AUTONOMIC_GANGLIA ENST00000378633.1:c.344_349dup p.Lys115_Glu116dup p.K115_E116dup ENST00000378633 115 aga/aAAGAAAga 5/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1647893 1647894 + inframe_insertion In_Frame_Ins INS - TTTCTT rs144636354 L428_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000378633.1:c.344_349dup p.Lys115_Glu116dup p.K115_E116dup ENST00000378633 115 aga/aAAGAAAga 5/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1647893 1647894 + inframe_insertion In_Frame_Ins INS - TTTCTT rs144636354 MDAMB435S_SKIN ENST00000378633.1:c.344_349dup p.Lys115_Glu116dup p.K115_E116dup ENST00000378633 115 aga/aAAGAAAga 5/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1647893 1647894 + inframe_insertion In_Frame_Ins INS - TTTCTT rs144636354 NCIH1092_LUNG ENST00000378633.1:c.344_349dup p.Lys115_Glu116dup p.K115_E116dup ENST00000378633 115 aga/aAAGAAAga 5/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1647893 1647894 + inframe_insertion In_Frame_Ins INS - TTTCTT rs144636354 NCIH2196_LUNG ENST00000378633.1:c.344_349dup p.Lys115_Glu116dup p.K115_E116dup ENST00000378633 115 aga/aAAGAAAga 5/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1647893 1647894 + inframe_insertion In_Frame_Ins INS - TTTCTT rs144636354 NCIH2444_LUNG ENST00000378633.1:c.344_349dup p.Lys115_Glu116dup p.K115_E116dup ENST00000378633 115 aga/aAAGAAAga 5/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1647893 1647894 + inframe_insertion In_Frame_Ins INS - TTTCTT rs144636354 NCIH526_LUNG ENST00000378633.1:c.344_349dup p.Lys115_Glu116dup p.K115_E116dup ENST00000378633 115 aga/aAAGAAAga 5/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1647893 1647894 + inframe_insertion In_Frame_Ins INS - TTTCTT rs144636354 NCIH716_LARGE_INTESTINE ENST00000378633.1:c.344_349dup p.Lys115_Glu116dup p.K115_E116dup ENST00000378633 115 aga/aAAGAAAga 5/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1647893 1647894 + inframe_insertion In_Frame_Ins INS - TTTCTT rs144636354 NCIH838_LUNG ENST00000378633.1:c.344_349dup p.Lys115_Glu116dup p.K115_E116dup ENST00000378633 115 aga/aAAGAAAga 5/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1647893 1647894 + inframe_insertion In_Frame_Ins INS - TTTCTT rs144636354 PC3_PROSTATE ENST00000378633.1:c.344_349dup p.Lys115_Glu116dup p.K115_E116dup ENST00000378633 115 aga/aAAGAAAga 5/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1647893 1647894 + inframe_insertion In_Frame_Ins INS - TTTCTT rs144636354 SNU349_KIDNEY ENST00000378633.1:c.344_349dup p.Lys115_Glu116dup p.K115_E116dup ENST00000378633 115 aga/aAAGAAAga 5/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1647893 1647894 + inframe_insertion In_Frame_Ins INS - TTTCTT rs144636354 SNU478_BILIARY_TRACT ENST00000378633.1:c.344_349dup p.Lys115_Glu116dup p.K115_E116dup ENST00000378633 115 aga/aAAGAAAga 5/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1647893 1647894 + inframe_insertion In_Frame_Ins INS - TTTCTT rs144636354 SNU620_STOMACH ENST00000378633.1:c.344_349dup p.Lys115_Glu116dup p.K115_E116dup ENST00000378633 115 aga/aAAGAAAga 5/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1647893 1647894 + inframe_insertion In_Frame_Ins INS - TTTCTT rs144636354 TC71_BONE ENST00000378633.1:c.344_349dup p.Lys115_Glu116dup p.K115_E116dup ENST00000378633 115 aga/aAAGAAAga 5/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1650768 1650768 + intron_variant Intron SNP C A rs781271182 NCIH1568_LUNG ENST00000378633.1:c.325+29G>T p.*109* ENST00000378633 SUCCESS | |
| CDK11A 728642 GRCh37 1 1650772 1650772 + intron_variant Intron SNP T A OVISE_OVARY ENST00000378633.1:c.325+25A>T p.*109* ENST00000378633 SUCCESS | |
| CDK11A 728642 GRCh37 1 1650803 1650803 + stop_gained Nonsense_Mutation SNP C A NCIH1650_LUNG ENST00000378633.1:c.319G>T p.Glu107Ter p.E107* ENST00000378633 107 Gaa/Taa 4/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1650851 1650851 + missense_variant Missense_Mutation SNP T C rs1239244294 HCC1833_LUNG ENST00000378633.1:c.271A>G p.Met91Val p.M91V ENST00000378633 91 Atg/Gtg 4/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1653061 1653061 + stop_gained Nonsense_Mutation SNP A C rs201926274 KYSE410_OESOPHAGUS ENST00000378633.1:c.201T>G p.Tyr67Ter p.Y67* ENST00000378633 67 taT/taG 3/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1653108 1653108 + stop_gained Nonsense_Mutation SNP C A NCIH2342_LUNG ENST00000378633.1:c.154G>T p.Glu52Ter p.E52* ENST00000378633 52 Gag/Tag 3/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1653110 1653111 + missense_variant Missense_Mutation DNP CC TG JHOS2_OVARY ENST00000378633.1:c.151_152delinsCA p.Gly51Gln p.G51Q ENST00000378633 51 GGg/CAg 3/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1653110 1653111 + missense_variant Missense_Mutation DNP CC TG KYSE520_OESOPHAGUS ENST00000378633.1:c.151_152delinsCA p.Gly51Gln p.G51Q ENST00000378633 51 GGg/CAg 3/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1653110 1653111 + missense_variant Missense_Mutation DNP CC TG SNU478_BILIARY_TRACT ENST00000378633.1:c.151_152delinsCA p.Gly51Gln p.G51Q ENST00000378633 51 GGg/CAg 3/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1653126 1653126 + missense_variant Missense_Mutation SNP C T HCC56_LARGE_INTESTINE ENST00000378633.1:c.136G>A p.Asp46Asn p.D46N ENST00000378633 46 Gat/Aat 3/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1653129 1653129 + missense_variant Missense_Mutation SNP G A rs540105321 HEC108_ENDOMETRIUM ENST00000378633.1:c.133C>T p.Arg45Trp p.R45W ENST00000378633 45 Cgg/Tgg 3/20 SUCCESS | |
| CDK11A 728642 GRCh37 1 1653141 1653141 + missense_variant Missense_Mutation SNP G A rs776650584 SNU886_LIVER ENST00000378633.1:c.121C>T p.Arg41Trp p.R41W ENST00000378633 41 Cgg/Tgg 3/20 SUCCESS | |
| 1 1654066 1654068 GCG GCG 2313287_STOMACH FAILED | |
| 1 1654066 1654068 GCG GCG 253JBV_URINARY_TRACT FAILED | |
| 1 1654066 1654068 GCG GCG 253J_URINARY_TRACT FAILED | |
| 1 1654066 1654068 GCG GCG 59M_OVARY FAILED | |
| 1 1654066 1654068 GCG GCG 769P_KIDNEY FAILED | |
| 1 1654066 1654068 GCG GCG 786O_KIDNEY FAILED | |
| 1 1654066 1654068 GCG GCG 8MGBA_CENTRAL_NERVOUS_SYSTEM FAILED | |
| 1 1654066 1654068 GCG GCG A172_CENTRAL_NERVOUS_SYSTEM FAILED | |
| 1 1654066 1654068 GCG GCG A2780_OVARY FAILED | |
| 1 1654066 1654068 GCG GCG A375_SKIN FAILED | |
| 1 1654066 1654068 GCG GCG A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG A4FUK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG ACCMESO1_PLEURA FAILED | |
| 1 1654066 1654068 GCG GCG AM38_CENTRAL_NERVOUS_SYSTEM FAILED | |
| 1 1654066 1654068 GCG GCG AU565_BREAST FAILED | |
| 1 1654066 1654068 GCG GCG BDCM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG BFTC909_KIDNEY FAILED | |
| 1 1654066 1654068 GCG GCG BICR16_UPPER_AERODIGESTIVE_TRACT FAILED | |
| 1 1654066 1654068 GCG GCG BICR18_UPPER_AERODIGESTIVE_TRACT FAILED | |
| 1 1654066 1654068 GCG GCG BICR6_UPPER_AERODIGESTIVE_TRACT FAILED | |
| 1 1654066 1654068 GCG GCG BT20_BREAST FAILED | |
| 1 1654066 1654068 GCG GCG BT474_BREAST FAILED | |
| 1 1654066 1654068 GCG GCG BV173_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG C2BBE1_LARGE_INTESTINE FAILED | |
| 1 1654066 1654068 GCG GCG CADOES1_BONE FAILED | |
| 1 1654066 1654068 GCG GCG CAKI1_KIDNEY FAILED | |
| 1 1654066 1654068 GCG GCG CAL148_BREAST FAILED | |
| 1 1654066 1654068 GCG GCG CAL27_UPPER_AERODIGESTIVE_TRACT FAILED | |
| 1 1654066 1654068 GCG GCG CAL33_UPPER_AERODIGESTIVE_TRACT FAILED | |
| 1 1654066 1654068 GCG GCG CAL51_BREAST FAILED | |
| 1 1654066 1654068 GCG GCG CAL62_THYROID FAILED | |
| 1 1654066 1654068 GCG GCG CALU1_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG CALU3_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG CAMA1_BREAST FAILED | |
| 1 1654066 1654068 GCG GCG CAOV4_OVARY FAILED | |
| 1 1654066 1654068 GCG GCG CAPAN2_PANCREAS FAILED | |
| 1 1654066 1654068 GCG GCG CAS1_CENTRAL_NERVOUS_SYSTEM FAILED | |
| 1 1654066 1654068 GCG GCG CCK81_LARGE_INTESTINE FAILED | |
| 1 1654066 1654068 GCG GCG CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG COLO741_SKIN FAILED | |
| 1 1654066 1654068 GCG GCG COLO783_SKIN FAILED | |
| 1 1654066 1654068 GCG GCG CORL23_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG CORL47_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG CORL95_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG COV318_OVARY FAILED | |
| 1 1654066 1654068 GCG GCG COV644_OVARY FAILED | |
| 1 1654066 1654068 GCG GCG CW2_LARGE_INTESTINE FAILED | |
| 1 1654066 1654068 GCG GCG DANG_PANCREAS FAILED | |
| 1 1654066 1654068 GCG GCG DAOY_CENTRAL_NERVOUS_SYSTEM FAILED | |
| 1 1654066 1654068 GCG GCG DM3_PLEURA FAILED | |
| 1 1654066 1654068 GCG GCG DMS273_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG DMS454_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG DMS53_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG DU145_PROSTATE FAILED | |
| 1 1654066 1654068 GCG GCG EBC1_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG ECC10_STOMACH FAILED | |
| 1 1654066 1654068 GCG GCG ECC12_STOMACH FAILED | |
| 1 1654066 1654068 GCG GCG ECGI10_OESOPHAGUS FAILED | |
| 1 1654066 1654068 GCG GCG EFO21_OVARY FAILED | |
| 1 1654066 1654068 GCG GCG EFO27_OVARY FAILED | |
| 1 1654066 1654068 GCG GCG EHEB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG EN_ENDOMETRIUM FAILED | |
| 1 1654066 1654068 GCG GCG EPLC272H_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG ESS1_ENDOMETRIUM FAILED | |
| 1 1654066 1654068 GCG GCG FADU_UPPER_AERODIGESTIVE_TRACT FAILED | |
| 1 1654066 1654068 GCG GCG FTC133_THYROID FAILED | |
| 1 1654066 1654068 GCG GCG FTC238_THYROID FAILED | |
| 1 1654066 1654068 GCG GCG FU97_STOMACH FAILED | |
| 1 1654066 1654068 GCG GCG FUOV1_OVARY FAILED | |
| 1 1654066 1654068 GCG GCG G361_SKIN FAILED | |
| 1 1654066 1654068 GCG GCG G401_SOFT_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG GCIY_STOMACH FAILED | |
| 1 1654066 1654068 GCG GCG GOS3_CENTRAL_NERVOUS_SYSTEM FAILED | |
| 1 1654066 1654068 GCG GCG GSS_STOMACH FAILED | |
| 1 1654066 1654068 GCG GCG H4_CENTRAL_NERVOUS_SYSTEM FAILED | |
| 1 1654066 1654068 GCG GCG HCC1171_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG HCC1395_BREAST FAILED | |
| 1 1654066 1654068 GCG GCG HCC1438_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG HCC15_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG HCC1833_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG HCC2108_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG HCC2218_BREAST FAILED | |
| 1 1654066 1654068 GCG GCG HCC2935_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG HCC38_BREAST FAILED | |
| 1 1654066 1654068 GCG GCG HCC4006_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG HCC44_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG HCC95_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG HCT15_LARGE_INTESTINE FAILED | |
| 1 1654066 1654068 GCG GCG HEC108_ENDOMETRIUM FAILED | |
| 1 1654066 1654068 GCG GCG HEC151_ENDOMETRIUM FAILED | |
| 1 1654066 1654068 GCG GCG HEC1B_ENDOMETRIUM FAILED | |
| 1 1654066 1654068 GCG GCG HEC251_ENDOMETRIUM FAILED | |
| 1 1654066 1654068 GCG GCG HEC50B_ENDOMETRIUM FAILED | |
| 1 1654066 1654068 GCG GCG HEC6_ENDOMETRIUM FAILED | |
| 1 1654066 1654068 GCG GCG HEL9217_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG HEL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG HEPG2_LIVER FAILED | |
| 1 1654066 1654068 GCG GCG HEYA8_OVARY FAILED | |
| 1 1654066 1654068 GCG GCG HGC27_STOMACH FAILED | |
| 1 1654066 1654068 GCG GCG HH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG HLF_LIVER FAILED | |
| 1 1654066 1654068 GCG GCG HMCB_SKIN FAILED | |
| 1 1654066 1654068 GCG GCG HPAFII_PANCREAS FAILED | |
| 1 1654066 1654068 GCG GCG HS172T_URINARY_TRACT FAILED | |
| 1 1654066 1654068 GCG GCG HS229T_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG HS281T_BREAST FAILED | |
| 1 1654066 1654068 GCG GCG HS578T_BREAST FAILED | |
| 1 1654066 1654068 GCG GCG HS600T_SKIN FAILED | |
| 1 1654066 1654068 GCG GCG HS616T_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG HS683_CENTRAL_NERVOUS_SYSTEM FAILED | |
| 1 1654066 1654068 GCG GCG HS688AT_SKIN FAILED | |
| 1 1654066 1654068 GCG GCG HS698T_LARGE_INTESTINE FAILED | |
| 1 1654066 1654068 GCG GCG HS706T_BONE FAILED | |
| 1 1654066 1654068 GCG GCG HS737T_BONE FAILED | |
| 1 1654066 1654068 GCG GCG HS739T_BREAST FAILED | |
| 1 1654066 1654068 GCG GCG HS742T_BREAST FAILED | |
| 1 1654066 1654068 GCG GCG HS766T_PANCREAS FAILED | |
| 1 1654066 1654068 GCG GCG HS821T_BONE FAILED | |
| 1 1654066 1654068 GCG GCG HS822T_BONE FAILED | |
| 1 1654066 1654068 GCG GCG HS834T_SKIN FAILED | |
| 1 1654066 1654068 GCG GCG HS839T_SKIN FAILED | |
| 1 1654066 1654068 GCG GCG HS852T_SKIN FAILED | |
| 1 1654066 1654068 GCG GCG HS863T_BONE FAILED | |
| 1 1654066 1654068 GCG GCG HS895T_SKIN FAILED | |
| 1 1654066 1654068 GCG GCG HS934T_SKIN FAILED | |
| 1 1654066 1654068 GCG GCG HS940T_SKIN FAILED | |
| 1 1654066 1654068 GCG GCG HS944T_SKIN FAILED | |
| 1 1654066 1654068 GCG GCG HSC3_UPPER_AERODIGESTIVE_TRACT FAILED | |
| 1 1654066 1654068 GCG GCG HSC4_UPPER_AERODIGESTIVE_TRACT FAILED | |
| 1 1654066 1654068 GCG GCG HT1376_URINARY_TRACT FAILED | |
| 1 1654066 1654068 GCG GCG HT144_SKIN FAILED | |
| 1 1654066 1654068 GCG GCG HT29_LARGE_INTESTINE FAILED | |
| 1 1654066 1654068 GCG GCG HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG HUH28_BILIARY_TRACT FAILED | |
| 1 1654066 1654068 GCG GCG HUPT3_PANCREAS FAILED | |
| 1 1654066 1654068 GCG GCG HUPT4_PANCREAS FAILED | |
| 1 1654066 1654068 GCG GCG IGR37_SKIN FAILED | |
| 1 1654066 1654068 GCG GCG IM95_STOMACH FAILED | |
| 1 1654066 1654068 GCG GCG JHH1_LIVER FAILED | |
| 1 1654066 1654068 GCG GCG JHH5_LIVER FAILED | |
| 1 1654066 1654068 GCG GCG JHH6_LIVER FAILED | |
| 1 1654066 1654068 GCG GCG JHH7_LIVER FAILED | |
| 1 1654066 1654068 GCG GCG JHOS2_OVARY FAILED | |
| 1 1654066 1654068 GCG GCG JK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG JMSU1_URINARY_TRACT FAILED | |
| 1 1654066 1654068 GCG GCG JVM3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG K029AX_SKIN FAILED | |
| 1 1654066 1654068 GCG GCG KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG KATOIII_STOMACH FAILED | |
| 1 1654066 1654068 GCG GCG KE39_STOMACH FAILED | |
| 1 1654066 1654068 GCG GCG KLE_ENDOMETRIUM FAILED | |
| 1 1654066 1654068 GCG GCG KMBC2_URINARY_TRACT FAILED | |
| 1 1654066 1654068 GCG GCG KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG KMRC1_KIDNEY FAILED | |
| 1 1654066 1654068 GCG GCG KMRC3_KIDNEY FAILED | |
| 1 1654066 1654068 GCG GCG KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG KP2_PANCREAS FAILED | |
| 1 1654066 1654068 GCG GCG KP3_PANCREAS FAILED | |
| 1 1654066 1654068 GCG GCG KPL1_BREAST FAILED | |
| 1 1654066 1654068 GCG GCG KS1_CENTRAL_NERVOUS_SYSTEM FAILED | |
| 1 1654066 1654068 GCG GCG KU812_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG KURAMOCHI_OVARY FAILED | |
| 1 1654066 1654068 GCG GCG KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG KYSE140_OESOPHAGUS FAILED | |
| 1 1654066 1654068 GCG GCG KYSE150_OESOPHAGUS FAILED | |
| 1 1654066 1654068 GCG GCG KYSE30_OESOPHAGUS FAILED | |
| 1 1654066 1654068 GCG GCG KYSE510_OESOPHAGUS FAILED | |
| 1 1654066 1654068 GCG GCG KYSE520_OESOPHAGUS FAILED | |
| 1 1654066 1654068 GCG GCG L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG LCLC103H_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG LMSU_STOMACH FAILED | |
| 1 1654066 1654068 GCG GCG LOUCY_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG LOUNH91_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG LS411N_LARGE_INTESTINE FAILED | |
| 1 1654066 1654068 GCG GCG LU99_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG MALME3M_SKIN FAILED | |
| 1 1654066 1654068 GCG GCG MC116_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG MDAMB231_BREAST FAILED | |
| 1 1654066 1654068 GCG GCG MDAMB361_BREAST FAILED | |
| 1 1654066 1654068 GCG GCG MDAMB436_BREAST FAILED | |
| 1 1654066 1654068 GCG GCG MDAMB453_BREAST FAILED | |
| 1 1654066 1654068 GCG GCG MDST8_LARGE_INTESTINE FAILED | |
| 1 1654066 1654068 GCG GCG ME1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG MELJUSO_SKIN FAILED | |
| 1 1654066 1654068 GCG GCG MFE280_ENDOMETRIUM FAILED | |
| 1 1654066 1654068 GCG GCG MFE296_ENDOMETRIUM FAILED | |
| 1 1654066 1654068 GCG GCG MFE319_ENDOMETRIUM FAILED | |
| 1 1654066 1654068 GCG GCG MHHCALL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG MIAPACA2_PANCREAS FAILED | |
| 1 1654066 1654068 GCG GCG MINO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG ML1_THYROID FAILED | |
| 1 1654066 1654068 GCG GCG MOLP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG MONOMAC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG MORCPR_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG MSTO211H_PLEURA FAILED | |
| 1 1654066 1654068 GCG GCG MUTZ3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG MUTZ5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG MV411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG NALM19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG NB1_AUTONOMIC_GANGLIA FAILED | |
| 1 1654066 1654068 GCG GCG NCIH1105_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG NCIH1184_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG NCIH1435_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG NCIH1573_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG NCIH1581_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG NCIH1618_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG NCIH1651_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG NCIH1666_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG NCIH1693_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG NCIH1703_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG NCIH1734_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG NCIH1793_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG NCIH1876_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG NCIH1915_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG NCIH1975_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG NCIH2023_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG NCIH2029_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG NCIH2052_PLEURA FAILED | |
| 1 1654066 1654068 GCG GCG NCIH2081_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG NCIH2087_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG NCIH211_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG NCIH2122_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG NCIH2126_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG NCIH2196_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG NCIH2227_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG NCIH2342_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG NCIH2452_PLEURA FAILED | |
| 1 1654066 1654068 GCG GCG NCIH3255_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG NCIH441_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG NCIH460_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG NCIH510_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG NCIH520_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG NCIH522_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG NCIH524_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG NCIH647_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG NCIH661_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG NCIH684_LIVER FAILED | |
| 1 1654066 1654068 GCG GCG NCIH716_LARGE_INTESTINE FAILED | |
| 1 1654066 1654068 GCG GCG NCIH82_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG NCIH841_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG NCIH854_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG NCO2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG NIHOVCAR3_OVARY FAILED | |
| 1 1654066 1654068 GCG GCG NMCG1_CENTRAL_NERVOUS_SYSTEM FAILED | |
| 1 1654066 1654068 GCG GCG NUGC3_STOMACH FAILED | |
| 1 1654066 1654068 GCG GCG OAW42_OVARY FAILED | |
| 1 1654066 1654068 GCG GCG OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG OCILY3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG OE21_OESOPHAGUS FAILED | |
| 1 1654066 1654068 GCG GCG ONCODG1_OVARY FAILED | |
| 1 1654066 1654068 GCG GCG ONS76_CENTRAL_NERVOUS_SYSTEM FAILED | |
| 1 1654066 1654068 GCG GCG OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG OV56_OVARY FAILED | |
| 1 1654066 1654068 GCG GCG OV90_OVARY FAILED | |
| 1 1654066 1654068 GCG GCG OVCAR4_OVARY FAILED | |
| 1 1654066 1654068 GCG GCG OVK18_OVARY FAILED | |
| 1 1654066 1654068 GCG GCG OVSAHO_OVARY FAILED | |
| 1 1654066 1654068 GCG GCG P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG PANC0213_PANCREAS FAILED | |
| 1 1654066 1654068 GCG GCG PCM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG PECAPJ41CLONED2_UPPER_AERODIGESTIVE_TRACT FAILED | |
| 1 1654066 1654068 GCG GCG PECAPJ49_UPPER_AERODIGESTIVE_TRACT FAILED | |
| 1 1654066 1654068 GCG GCG PEER_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG PFEIFFER_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG PK45H_PANCREAS FAILED | |
| 1 1654066 1654068 GCG GCG PK59_PANCREAS FAILED | |
| 1 1654066 1654068 GCG GCG PL21_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG QGP1_PANCREAS FAILED | |
| 1 1654066 1654068 GCG GCG RD_SOFT_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG RERFLCAD1_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG RERFLCAD2_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG RERFLCSQ1_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG RL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG RT112_URINARY_TRACT FAILED | |
| 1 1654066 1654068 GCG GCG RT4_URINARY_TRACT FAILED | |
| 1 1654066 1654068 GCG GCG S117_SOFT_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG SBC5_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG SCC15_UPPER_AERODIGESTIVE_TRACT FAILED | |
| 1 1654066 1654068 GCG GCG SCC4_UPPER_AERODIGESTIVE_TRACT FAILED | |
| 1 1654066 1654068 GCG GCG SCC9_UPPER_AERODIGESTIVE_TRACT FAILED | |
| 1 1654066 1654068 GCG GCG SCLC21H_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG SET2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG SF126_CENTRAL_NERVOUS_SYSTEM FAILED | |
| 1 1654066 1654068 GCG GCG SF295_CENTRAL_NERVOUS_SYSTEM FAILED | |
| 1 1654066 1654068 GCG GCG SH4_SKIN FAILED | |
| 1 1654066 1654068 GCG GCG SKBR3_BREAST FAILED | |
| 1 1654066 1654068 GCG GCG SKCO1_LARGE_INTESTINE FAILED | |
| 1 1654066 1654068 GCG GCG SKHEP1_LIVER FAILED | |
| 1 1654066 1654068 GCG GCG SKM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG SKMEL1_SKIN FAILED | |
| 1 1654066 1654068 GCG GCG SKMEL30_SKIN FAILED | |
| 1 1654066 1654068 GCG GCG SKMEL5_SKIN FAILED | |
| 1 1654066 1654068 GCG GCG SKOV3_OVARY FAILED | |
| 1 1654066 1654068 GCG GCG SNU1033_LARGE_INTESTINE FAILED | |
| 1 1654066 1654068 GCG GCG SNU1041_UPPER_AERODIGESTIVE_TRACT FAILED | |
| 1 1654066 1654068 GCG GCG SNU1076_UPPER_AERODIGESTIVE_TRACT FAILED | |
| 1 1654066 1654068 GCG GCG SNU1079_BILIARY_TRACT FAILED | |
| 1 1654066 1654068 GCG GCG SNU1196_BILIARY_TRACT FAILED | |
| 1 1654066 1654068 GCG GCG SNU119_OVARY FAILED | |
| 1 1654066 1654068 GCG GCG SNU1214_UPPER_AERODIGESTIVE_TRACT FAILED | |
| 1 1654066 1654068 GCG GCG SNU1272_KIDNEY FAILED | |
| 1 1654066 1654068 GCG GCG SNU1_STOMACH FAILED | |
| 1 1654066 1654068 GCG GCG SNU201_CENTRAL_NERVOUS_SYSTEM FAILED | |
| 1 1654066 1654068 GCG GCG SNU283_LARGE_INTESTINE FAILED | |
| 1 1654066 1654068 GCG GCG SNU308_BILIARY_TRACT FAILED | |
| 1 1654066 1654068 GCG GCG SNU324_PANCREAS FAILED | |
| 1 1654066 1654068 GCG GCG SNU349_KIDNEY FAILED | |
| 1 1654066 1654068 GCG GCG SNU398_LIVER FAILED | |
| 1 1654066 1654068 GCG GCG SNU407_LARGE_INTESTINE FAILED | |
| 1 1654066 1654068 GCG GCG SNU410_PANCREAS FAILED | |
| 1 1654066 1654068 GCG GCG SNU46_UPPER_AERODIGESTIVE_TRACT FAILED | |
| 1 1654066 1654068 GCG GCG SNU475_LIVER FAILED | |
| 1 1654066 1654068 GCG GCG SNU503_LARGE_INTESTINE FAILED | |
| 1 1654066 1654068 GCG GCG SNU601_STOMACH FAILED | |
| 1 1654066 1654068 GCG GCG SNU719_STOMACH FAILED | |
| 1 1654066 1654068 GCG GCG SNU738_CENTRAL_NERVOUS_SYSTEM FAILED | |
| 1 1654066 1654068 GCG GCG SNU81_LARGE_INTESTINE FAILED | |
| 1 1654066 1654068 GCG GCG SNU840_OVARY FAILED | |
| 1 1654066 1654068 GCG GCG SNU878_LIVER FAILED | |
| 1 1654066 1654068 GCG GCG SNU899_UPPER_AERODIGESTIVE_TRACT FAILED | |
| 1 1654066 1654068 GCG GCG SNUC4_LARGE_INTESTINE FAILED | |
| 1 1654066 1654068 GCG GCG SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG SUDHL5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG SUPB15_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG SUPT11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG SW1710_URINARY_TRACT FAILED | |
| 1 1654066 1654068 GCG GCG SW1783_CENTRAL_NERVOUS_SYSTEM FAILED | |
| 1 1654066 1654068 GCG GCG SW403_LARGE_INTESTINE FAILED | |
| 1 1654066 1654068 GCG GCG SW480_LARGE_INTESTINE FAILED | |
| 1 1654066 1654068 GCG GCG SW48_LARGE_INTESTINE FAILED | |
| 1 1654066 1654068 GCG GCG SW579_THYROID FAILED | |
| 1 1654066 1654068 GCG GCG SW620_LARGE_INTESTINE FAILED | |
| 1 1654066 1654068 GCG GCG SW837_LARGE_INTESTINE FAILED | |
| 1 1654066 1654068 GCG GCG SW900_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG T173_BONE FAILED | |
| 1 1654066 1654068 GCG GCG T3M10_LUNG FAILED | |
| 1 1654066 1654068 GCG GCG T3M4_PANCREAS FAILED | |
| 1 1654066 1654068 GCG GCG T47D_BREAST FAILED | |
| 1 1654066 1654068 GCG GCG T84_LARGE_INTESTINE FAILED | |
| 1 1654066 1654068 GCG GCG TE11_OESOPHAGUS FAILED | |
| 1 1654066 1654068 GCG GCG TE14_OESOPHAGUS FAILED | |
| 1 1654066 1654068 GCG GCG TE159T_SOFT_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG TE1_OESOPHAGUS FAILED | |
| 1 1654066 1654068 GCG GCG TE4_OESOPHAGUS FAILED | |
| 1 1654066 1654068 GCG GCG TE5_OESOPHAGUS FAILED | |
| 1 1654066 1654068 GCG GCG TE6_OESOPHAGUS FAILED | |
| 1 1654066 1654068 GCG GCG TE8_OESOPHAGUS FAILED | |
| 1 1654066 1654068 GCG GCG TGBC11TKB_STOMACH FAILED | |
| 1 1654066 1654068 GCG GCG THP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG TO175T_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 1654066 1654068 GCG GCG TUHR10TKB_KIDNEY FAILED | |
| 1 1654066 1654068 GCG GCG TUHR14TKB_KIDNEY FAILED | |
| 1 1654066 1654068 GCG GCG TUHR4TKB_KIDNEY FAILED | |
| 1 1654066 1654068 GCG GCG U2OS_BONE FAILED | |
| 1 1654066 1654068 GCG GCG U87MG_CENTRAL_NERVOUS_SYSTEM FAILED | |
| 1 1654066 1654068 GCG GCG UACC257_SKIN FAILED | |
| 1 1654066 1654068 GCG GCG UBLC1_URINARY_TRACT FAILED | |
| 1 1654066 1654068 GCG GCG VMCUB1_URINARY_TRACT FAILED | |
| 1 1654066 1654068 GCG GCG WM115_SKIN FAILED | |
| 1 1654066 1654068 GCG GCG WM2664_SKIN FAILED | |
| 1 1654066 1654068 GCG GCG WM793_SKIN FAILED | |
| 1 1654066 1654068 GCG GCG YD15_SALIVARY_GLAND FAILED | |
| 1 1654066 1654068 GCG GCG YD38_UPPER_AERODIGESTIVE_TRACT FAILED | |
| 1 1654066 1654068 GCG GCG YKG1_CENTRAL_NERVOUS_SYSTEM FAILED | |
| 1 1654148 1654148 T T EN_ENDOMETRIUM FAILED | |
| 1 1654148 1654148 T T SW48_LARGE_INTESTINE FAILED | |
| PRKCZ 5590 GRCh37 1 1986953 1986953 + missense_variant Missense_Mutation SNP C T rs370842263 CADOES1_BONE ENST00000378567.3:c.145C>T p.Arg49Cys p.R49C ENST00000378567 NM_002744.4 49 Cgt/Tgt 2/18 SUCCESS | |
| PRKCZ 5590 GRCh37 1 1986953 1986953 + missense_variant Missense_Mutation SNP C T rs370842263 CJM_SKIN ENST00000378567.3:c.145C>T p.Arg49Cys p.R49C ENST00000378567 NM_002744.4 49 Cgt/Tgt 2/18 SUCCESS | |
| PRKCZ 5590 GRCh37 1 1986953 1986953 + missense_variant Missense_Mutation SNP C T rs370842263 SQ1_LUNG ENST00000378567.3:c.145C>T p.Arg49Cys p.R49C ENST00000378567 NM_002744.4 49 Cgt/Tgt 2/18 SUCCESS | |
| PRKCZ 5590 GRCh37 1 1987935 1987935 + missense_variant Missense_Mutation SNP C T rs569122732 SNU1196_BILIARY_TRACT ENST00000378567.3:c.206C>T p.Thr69Met p.T69M ENST00000378567 NM_002744.4 69 aCg/aTg 3/18 SUCCESS | |
| PRKCZ 5590 GRCh37 1 1991019 1991019 + missense_variant Missense_Mutation SNP C T rs200172323 NCIH211_LUNG ENST00000378567.3:c.323C>T p.Pro108Leu p.P108L ENST00000378567 NM_002744.4 108 cCg/cTg 4/18 SUCCESS | |
| PRKCZ 5590 GRCh37 1 2066747 2066747 + synonymous_variant Silent SNP T A rs758570789 BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000378567.3:c.381T>A p.Arg127= p.R127= ENST00000378567 NM_002744.4 127 cgT/cgA 5/18 SUCCESS | |
| PRKCZ 5590 GRCh37 1 2066772 2066772 + missense_variant Missense_Mutation SNP A G HEC59_ENDOMETRIUM ENST00000378567.3:c.406A>G p.Lys136Glu p.K136E ENST00000378567 NM_002744.4 136 Aag/Gag 5/18 SUCCESS | |
| PRKCZ 5590 GRCh37 1 2066783 2066783 + synonymous_variant Silent SNP C T BICR31_UPPER_AERODIGESTIVE_TRACT ENST00000378567.3:c.417C>T p.Asn139= p.N139= ENST00000378567 NM_002744.4 139 aaC/aaT 5/18 SUCCESS | |
| PRKCZ 5590 GRCh37 1 2075672 2075672 + missense_variant Missense_Mutation SNP C G rs201398081 PC3_PROSTATE ENST00000378567.3:c.444C>G p.Ser148Arg p.S148R ENST00000378567 NM_002744.4 148 agC/agG 6/18 SUCCESS | |
| PRKCZ 5590 GRCh37 1 2077484 2077484 + stop_gained Nonsense_Mutation SNP C T NCIH2110_LUNG ENST00000378567.3:c.571C>T p.Gln191Ter p.Q191* ENST00000378567 NM_002744.4 191 Caa/Taa 7/18 SUCCESS | |
| PRKCZ 5590 GRCh37 1 2080311 2080311 + missense_variant,splice_region_variant Missense_Mutation SNP T A CW2_LARGE_INTESTINE ENST00000378567.3:c.635T>A p.Ile212Asn p.I212N ENST00000378567 NM_002744.4 212 aTt/aAt 8/18 SUCCESS | |
| PRKCZ 5590 GRCh37 1 2080355 2080355 + missense_variant Missense_Mutation SNP G A TE617T_SOFT_TISSUE ENST00000378567.3:c.679G>A p.Asp227Asn p.D227N ENST00000378567 NM_002744.4 227 Gac/Aac 8/18 SUCCESS | |
| PRKCZ 5590 GRCh37 1 2082330 2082330 + stop_gained Nonsense_Mutation SNP C G BT549_BREAST ENST00000378567.3:c.789C>G p.Tyr263Ter p.Y263* ENST00000378567 NM_002744.4 263 taC/taG 9/18 SUCCESS | |
| PRKCZ 5590 GRCh37 1 2082364 2082364 + missense_variant Missense_Mutation SNP G T DU145_PROSTATE ENST00000378567.3:c.823G>T p.Asp275Tyr p.D275Y ENST00000378567 NM_002744.4 275 Gac/Tac 9/18 SUCCESS | |
| PRKCZ 5590 GRCh37 1 2087573 2087573 + intron_variant Intron SNP G A NCIH1048_LUNG ENST00000378567.3:c.974+42G>A p.*325* ENST00000378567 NM_002744.4 SUCCESS | |
| PRKCZ 5590 GRCh37 1 2087586 2087586 + intron_variant Intron SNP C T SNU387_LIVER ENST00000378567.3:c.974+55C>T p.*325* ENST00000378567 NM_002744.4 SUCCESS | |
| PRKCZ 5590 GRCh37 1 2087610 2087610 + intron_variant Intron SNP G C rs1004310712 HS688AT_SKIN ENST00000378567.3:c.974+79G>C p.*325* ENST00000378567 NM_002744.4 SUCCESS | |
| PRKCZ 5590 GRCh37 1 2100959 2100959 + missense_variant,splice_region_variant Missense_Mutation SNP T C SNU719_STOMACH ENST00000378567.3:c.977T>C p.Leu326Ser p.L326S ENST00000378567 NM_002744.4 326 tTg/tCg 11/18 SUCCESS | |
| PRKCZ 5590 GRCh37 1 2103546 2103546 + missense_variant Missense_Mutation SNP A G rs923558431 EN_ENDOMETRIUM ENST00000378567.3:c.1114A>G p.Ile372Val p.I372V ENST00000378567 NM_002744.4 372 Atc/Gtc 12/18 SUCCESS | |
| PRKCZ 5590 GRCh37 1 2105344 2105344 + missense_variant Missense_Mutation SNP G A HEC108_ENDOMETRIUM ENST00000378567.3:c.1294G>A p.Val432Met p.V432M ENST00000378567 NM_002744.4 432 Gtg/Atg 14/18 SUCCESS | |
| PRKCZ 5590 GRCh37 1 2105404 2105404 + missense_variant Missense_Mutation SNP G A rs139990959 SUPB15_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000378567.3:c.1354G>A p.Asp452Asn p.D452N ENST00000378567 NM_002744.4 452 Gac/Aac 14/18 SUCCESS | |
| PRKCZ 5590 GRCh37 1 2105455 2105455 + missense_variant,splice_region_variant Missense_Mutation SNP G T HCT15_LARGE_INTESTINE ENST00000378567.3:c.1405G>T p.Val469Leu p.V469L ENST00000378567 NM_002744.4 469 Gtg/Ttg 14/18 SUCCESS | |
| PRKCZ 5590 GRCh37 1 2106199 2106199 + missense_variant Missense_Mutation SNP T C HEC6_ENDOMETRIUM ENST00000378567.3:c.1412T>C p.Leu471Pro p.L471P ENST00000378567 NM_002744.4 471 cTg/cCg 15/18 SUCCESS | |
| PRKCZ 5590 GRCh37 1 2106240 2106240 + missense_variant Missense_Mutation SNP G T NCIH2286_LUNG ENST00000378567.3:c.1453G>T p.Ala485Ser p.A485S ENST00000378567 NM_002744.4 485 Gcc/Tcc 15/18 SUCCESS | |
| PRKCZ 5590 GRCh37 1 2106265 2106265 + stop_gained Nonsense_Mutation SNP T A HEC151_ENDOMETRIUM ENST00000378567.3:c.1478T>A p.Leu493Ter p.L493* ENST00000378567 NM_002744.4 493 tTa/tAa 15/18 SUCCESS | |
| PRKCZ 5590 GRCh37 1 2106733 2106733 + missense_variant Missense_Mutation SNP G A EN_ENDOMETRIUM ENST00000378567.3:c.1556G>A p.Arg519His p.R519H ENST00000378567 NM_002744.4 519 cGc/cAc 16/18 SUCCESS | |
| PRKCZ 5590 GRCh37 1 2115917 2115917 + intron_variant Intron SNP G T P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000378567.3:c.1576-105G>T p.*526* ENST00000378567 NM_002744.4 SUCCESS | |
| PRKCZ 5590 GRCh37 1 2115951 2115951 + intron_variant Intron SNP C T rs1231573434 SNU216_STOMACH ENST00000378567.3:c.1576-71C>T p.*526* ENST00000378567 NM_002744.4 SUCCESS | |
| PRKCZ 5590 GRCh37 1 2115985 2115985 + intron_variant Intron SNP C T rs772971154 COLO680N_OESOPHAGUS ENST00000378567.3:c.1576-37C>T p.*526* ENST00000378567 NM_002744.4 SUCCESS | |
| PRKCZ 5590 GRCh37 1 2115986 2115986 + intron_variant Intron SNP G A rs760358797 RPMI7951_SKIN ENST00000378567.3:c.1576-36G>A p.*526* ENST00000378567 NM_002744.4 SUCCESS | |
| PRKCZ 5590 GRCh37 1 2116069 2116069 + synonymous_variant Silent SNP C T rs377447072 SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000378567.3:c.1623C>T p.Asp541= p.D541= ENST00000378567 NM_002744.4 541 gaC/gaT 17/18 SUCCESS | |
| PRKCZ 5590 GRCh37 1 2116185 2116186 + intron_variant Intron INS - A SKUT1_SOFT_TISSUE ENST00000378567.3:c.1691+49dup p.*564* ENST00000378567 NM_002744.4 SUCCESS | |
| PRKCZ 5590 GRCh37 1 2116266 2116266 + intron_variant Intron SNP C T rs1026068248 NCIH1092_LUNG ENST00000378567.3:c.1692-95C>T p.*564* ENST00000378567 NM_002744.4 SUCCESS | |
| PRKCZ 5590 GRCh37 1 2116318 2116318 + intron_variant Intron SNP A G rs766602379 HS746T_STOMACH ENST00000378567.3:c.1692-43A>G p.*564* ENST00000378567 NM_002744.4 SUCCESS | |
| PRKCZ 5590 GRCh37 1 2116329 2116330 + intron_variant Intron INS - C rs1360136988 ESS1_ENDOMETRIUM ENST00000378567.3:c.1692-26dup p.*564* ENST00000378567 NM_002744.4 SUCCESS | |
| PRKCZ 5590 GRCh37 1 2116330 2116330 + intron_variant Intron SNP C A rs753148601 HEPG2_LIVER ENST00000378567.3:c.1692-31C>A p.*564* ENST00000378567 NM_002744.4 SUCCESS | |
| 1 2116337 2116337 C C MFE296_ENDOMETRIUM FAILED | |
| 1 2116337 2116337 C C SW48_LARGE_INTESTINE FAILED | |
| PRKCZ 5590 GRCh37 1 2116442 2116442 + synonymous_variant Silent SNP G A rs375012753 HEC59_ENDOMETRIUM ENST00000378567.3:c.1773G>A p.Ser591= p.S591= ENST00000378567 NM_002744.4 591 tcG/tcA 18/18 SUCCESS | |
| PRKCZ 5590 GRCh37 1 2116449 2116449 + 3_prime_UTR_variant 3'UTR SNP G T HCC1806_BREAST ENST00000378567.3:c.*1G>T ENST00000378567 NM_002744.4 18/18 SUCCESS | |
| PRKCZ 5590 GRCh37 1 2116466 2116466 + 3_prime_UTR_variant 3'UTR SNP T C CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000378567.3:c.*18T>C ENST00000378567 NM_002744.4 18/18 SUCCESS | |
| PRKCZ 5590 GRCh37 1 2116549 2116549 + 3_prime_UTR_variant 3'UTR SNP C T TE5_OESOPHAGUS ENST00000378567.3:c.*101C>T ENST00000378567 NM_002744.4 18/18 SUCCESS | |
| PRKCZ 5590 GRCh37 1 2116570 2116570 + 3_prime_UTR_variant 3'UTR SNP G A rs143864233 MDAMB468_BREAST ENST00000378567.3:c.*122G>A ENST00000378567 NM_002744.4 18/18 SUCCESS | |
| PRDM16 63976 GRCh37 1 3102727 3102727 + missense_variant Missense_Mutation SNP C T rs769704263 L428_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000270722.5:c.76C>T p.Arg26Trp p.R26W ENST00000270722 26 Cgg/Tgg 2/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3102833 3102833 + missense_variant Missense_Mutation SNP C T NCIH508_LARGE_INTESTINE ENST00000270722.5:c.182C>T p.Thr61Ile p.T61I ENST00000270722 61 aCc/aTc 2/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3102863 3102863 + missense_variant Missense_Mutation SNP C T rs749093354 MFE319_ENDOMETRIUM ENST00000270722.5:c.212C>T p.Pro71Leu p.P71L ENST00000270722 71 cCt/cTt 2/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3102928 3102928 + missense_variant Missense_Mutation SNP G A YD15_SALIVARY_GLAND ENST00000270722.5:c.277G>A p.Gly93Arg p.G93R ENST00000270722 93 Ggg/Agg 2/17 SUCCESS | |
| 1 3102984 3102984 C C MDAPCA2B_PROSTATE FAILED | |
| PRDM16 63976 GRCh37 1 3160677 3160677 + synonymous_variant Silent SNP G A rs201641748 LS180_LARGE_INTESTINE ENST00000270722.5:c.414G>A p.Ser138= p.S138= ENST00000270722 138 tcG/tcA 3/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3160694 3160694 + missense_variant Missense_Mutation SNP T A rs757284038 HCC15_LUNG ENST00000270722.5:c.431T>A p.Ile144Asn p.I144N ENST00000270722 144 aTc/aAc 3/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3301728 3301728 + missense_variant Missense_Mutation SNP C G rs371021789 HT29_LARGE_INTESTINE ENST00000270722.5:c.451C>G p.Leu151Val p.L151V ENST00000270722 151 Ctg/Gtg 4/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3301748 3301748 + synonymous_variant Silent SNP C T rs201912658 TE10_OESOPHAGUS ENST00000270722.5:c.471C>T p.Cys157= p.C157= ENST00000270722 157 tgC/tgT 4/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3301765 3301765 + missense_variant Missense_Mutation SNP C T rs201182055 HEC6_ENDOMETRIUM ENST00000270722.5:c.488C>T p.Ala163Val p.A163V ENST00000270722 163 gCg/gTg 4/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3301765 3301766 + frameshift_variant Frame_Shift_Ins INS - G HEC1A_ENDOMETRIUM ENST00000270722.5:c.493dup p.Ala165GlyfsTer16 p.A165Gfs*16 ENST00000270722 163 gcg/gcGg 4/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3301789 3301789 + missense_variant Missense_Mutation SNP A G HEC251_ENDOMETRIUM ENST00000270722.5:c.512A>G p.Tyr171Cys p.Y171C ENST00000270722 171 tAc/tGc 4/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3301793 3301793 + synonymous_variant Silent SNP C T rs865858938 HT115_LARGE_INTESTINE ENST00000270722.5:c.516C>T p.Ile172= p.I172= ENST00000270722 172 atC/atT 4/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3301810 3301810 + missense_variant Missense_Mutation SNP G T DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000270722.5:c.533G>T p.Cys178Phe p.C178F ENST00000270722 178 tGc/tTc 4/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3313094 3313094 + stop_gained Nonsense_Mutation SNP G T SCLC21H_LUNG ENST00000270722.5:c.613G>T p.Glu205Ter p.E205* ENST00000270722 205 Gag/Tag 5/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3322116 3322116 + missense_variant Missense_Mutation SNP C T rs1419881652 KYSE510_OESOPHAGUS ENST00000270722.5:c.1090C>T p.Arg364Trp p.R364W ENST00000270722 364 Cgg/Tgg 8/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3322147 3322147 + missense_variant Missense_Mutation SNP C T MFE319_ENDOMETRIUM ENST00000270722.5:c.1121C>T p.Thr374Ile p.T374I ENST00000270722 374 aCc/aTc 8/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3328245 3328245 + missense_variant Missense_Mutation SNP C G HS936T_SKIN ENST00000270722.5:c.1484C>G p.Pro495Arg p.P495R ENST00000270722 495 cCg/cGg 9/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3328266 3328266 + missense_variant Missense_Mutation SNP C T rs778182875 SNUC2A_LARGE_INTESTINE ENST00000270722.5:c.1505C>T p.Thr502Met p.T502M ENST00000270722 502 aCg/aTg 9/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3328319 3328319 + missense_variant Missense_Mutation SNP C T HEC1A_ENDOMETRIUM ENST00000270722.5:c.1558C>T p.Pro520Ser p.P520S ENST00000270722 520 Cca/Tca 9/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3328335 3328335 + missense_variant Missense_Mutation SNP G A rs373011563 NCIH1792_LUNG ENST00000270722.5:c.1574G>A p.Arg525Gln p.R525Q ENST00000270722 525 cGg/cAg 9/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3328353 3328353 + missense_variant Missense_Mutation SNP C T rs1479270217 SKMEL24_SKIN ENST00000270722.5:c.1592C>T p.Pro531Leu p.P531L ENST00000270722 531 cCc/cTc 9/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3328390 3328390 + missense_variant Missense_Mutation SNP G T NCIH1573_LUNG ENST00000270722.5:c.1629G>T p.Gln543His p.Q543H ENST00000270722 543 caG/caT 9/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3328650 3328650 + missense_variant Missense_Mutation SNP A G REC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000270722.5:c.1889A>G p.Asp630Gly p.D630G ENST00000270722 630 gAc/gGc 9/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3328737 3328737 + missense_variant Missense_Mutation SNP C T rs533776622 KU1919_URINARY_TRACT ENST00000270722.5:c.1976C>T p.Pro659Leu p.P659L ENST00000270722 659 cCg/cTg 9/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3328748 3328748 + missense_variant Missense_Mutation SNP G A HEC59_ENDOMETRIUM ENST00000270722.5:c.1987G>A p.Ala663Thr p.A663T ENST00000270722 663 Gcc/Acc 9/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3328769 3328769 + missense_variant Missense_Mutation SNP T C rs899536390 SNU81_LARGE_INTESTINE ENST00000270722.5:c.2008T>C p.Ser670Pro p.S670P ENST00000270722 670 Tcc/Ccc 9/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3328826 3328826 + missense_variant Missense_Mutation SNP G C HS737T_BONE ENST00000270722.5:c.2065G>C p.Ala689Pro p.A689P ENST00000270722 689 Gcc/Ccc 9/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3328826 3328826 + missense_variant Missense_Mutation SNP G A rs750573716 NCIH1734_LUNG ENST00000270722.5:c.2065G>A p.Ala689Thr p.A689T ENST00000270722 689 Gcc/Acc 9/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3328952 3328952 + missense_variant Missense_Mutation SNP C T rs759756565 KYSE450_OESOPHAGUS ENST00000270722.5:c.2191C>T p.Pro731Ser p.P731S ENST00000270722 731 Ccc/Tcc 9/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3328985 3328985 + missense_variant Missense_Mutation SNP G T NCIH2444_LUNG ENST00000270722.5:c.2224G>T p.Asp742Tyr p.D742Y ENST00000270722 742 Gac/Tac 9/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3329015 3329015 + missense_variant Missense_Mutation SNP A G LNCAPCLONEFGC_PROSTATE ENST00000270722.5:c.2254A>G p.Lys752Glu p.K752E ENST00000270722 752 Aag/Gag 9/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3329031 3329031 + missense_variant Missense_Mutation SNP C T COLO741_SKIN ENST00000270722.5:c.2270C>T p.Ser757Leu p.S757L ENST00000270722 757 tCa/tTa 9/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3329036 3329036 + missense_variant Missense_Mutation SNP C T rs752903093 KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000270722.5:c.2275C>T p.Arg759Trp p.R759W ENST00000270722 759 Cgg/Tgg 9/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3329180 3329180 + missense_variant Missense_Mutation SNP A G rs772583416 NCIH1836_LUNG ENST00000270722.5:c.2419A>G p.Ile807Val p.I807V ENST00000270722 807 Atc/Gtc 9/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3329348 3329348 + missense_variant Missense_Mutation SNP A G rs1489156449 CAL51_BREAST ENST00000270722.5:c.2587A>G p.Met863Val p.M863V ENST00000270722 863 Atg/Gtg 9/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3334509 3334509 + missense_variant Missense_Mutation SNP C A rs374972823 DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000270722.5:c.2809C>A p.Pro937Thr p.P937T ENST00000270722 937 Cca/Aca 11/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3334509 3334509 + missense_variant Missense_Mutation SNP C G rs374972823 MDAMB468_BREAST ENST00000270722.5:c.2809C>G p.Pro937Ala p.P937A ENST00000270722 937 Cca/Gca 11/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3334509 3334509 + missense_variant Missense_Mutation SNP C G rs374972823 SNUC2A_LARGE_INTESTINE ENST00000270722.5:c.2809C>G p.Pro937Ala p.P937A ENST00000270722 937 Cca/Gca 11/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3334548 3334548 + stop_gained Nonsense_Mutation SNP C T rs1294136105 SNU1040_LARGE_INTESTINE ENST00000270722.5:c.2848C>T p.Arg950Ter p.R950* ENST00000270722 950 Cga/Tga 11/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3334549 3334549 + missense_variant Missense_Mutation SNP G A rs755741214 COLO783_SKIN ENST00000270722.5:c.2849G>A p.Arg950Gln p.R950Q ENST00000270722 950 cGa/cAa 11/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3342158 3342158 + missense_variant Missense_Mutation SNP G T NCIH661_LUNG ENST00000270722.5:c.2953G>T p.Asp985Tyr p.D985Y ENST00000270722 985 Gac/Tac 13/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3342158 3342158 + missense_variant Missense_Mutation SNP G A rs758565663 RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000270722.5:c.2953G>A p.Asp985Asn p.D985N ENST00000270722 985 Gac/Aac 13/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3342159 3342159 + missense_variant Missense_Mutation SNP A G RKO_LARGE_INTESTINE ENST00000270722.5:c.2954A>G p.Asp985Gly p.D985G ENST00000270722 985 gAc/gGc 13/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3342276 3342276 + missense_variant Missense_Mutation SNP A G HEC59_ENDOMETRIUM ENST00000270722.5:c.3071A>G p.Asp1024Gly p.D1024G ENST00000270722 1024 gAc/gGc 13/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3342623 3342623 + missense_variant Missense_Mutation SNP C A CL40_LARGE_INTESTINE ENST00000270722.5:c.3118C>A p.His1040Asn p.H1040N ENST00000270722 1040 Cac/Aac 14/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3342671 3342671 + missense_variant Missense_Mutation SNP A T SNUC5_LARGE_INTESTINE ENST00000270722.5:c.3166A>T p.Thr1056Ser p.T1056S ENST00000270722 1056 Acc/Tcc 14/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3342777 3342777 + missense_variant Missense_Mutation SNP G A rs564269453 MDAPCA2B_PROSTATE ENST00000270722.5:c.3272G>A p.Arg1091Gln p.R1091Q ENST00000270722 1091 cGa/cAa 14/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3348631 3348631 + missense_variant Missense_Mutation SNP T C rs578095108 PK45H_PANCREAS ENST00000270722.5:c.3623T>C p.Val1208Ala p.V1208A ENST00000270722 1208 gTt/gCt 16/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3348661 3348661 + missense_variant Missense_Mutation SNP C A AN3CA_ENDOMETRIUM ENST00000270722.5:c.3653C>A p.Ser1218Tyr p.S1218Y ENST00000270722 1218 tCt/tAt 16/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3348678 3348678 + missense_variant Missense_Mutation SNP A G rs751991022 22RV1_PROSTATE ENST00000270722.5:c.3670A>G p.Thr1224Ala p.T1224A ENST00000270722 1224 Aca/Gca 16/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3350376 3350376 + 3_prime_UTR_variant 3'UTR SNP C T rs756085266 HEC108_ENDOMETRIUM ENST00000270722.5:c.*1C>T ENST00000270722 17/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3350390 3350390 + 3_prime_UTR_variant 3'UTR SNP G A rs771401380 647V_URINARY_TRACT ENST00000270722.5:c.*15G>A ENST00000270722 17/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3350396 3350396 + 3_prime_UTR_variant 3'UTR SNP C T rs373722939 CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000270722.5:c.*21C>T ENST00000270722 17/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3350396 3350396 + 3_prime_UTR_variant 3'UTR SNP C T rs373722939 KMS34_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000270722.5:c.*21C>T ENST00000270722 17/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3350396 3350396 + 3_prime_UTR_variant 3'UTR SNP C T rs373722939 OVTOKO_OVARY ENST00000270722.5:c.*21C>T ENST00000270722 17/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3350396 3350396 + 3_prime_UTR_variant 3'UTR SNP C T rs373722939 SNU466_CENTRAL_NERVOUS_SYSTEM ENST00000270722.5:c.*21C>T ENST00000270722 17/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3350396 3350396 + 3_prime_UTR_variant 3'UTR SNP C T rs373722939 SNU8_OVARY ENST00000270722.5:c.*21C>T ENST00000270722 17/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3350424 3350424 + 3_prime_UTR_variant 3'UTR SNP G A rs961802813 SCC25_UPPER_AERODIGESTIVE_TRACT ENST00000270722.5:c.*49G>A ENST00000270722 17/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3350430 3350430 + 3_prime_UTR_variant 3'UTR SNP C T rs540303438 DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000270722.5:c.*55C>T ENST00000270722 17/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3350457 3350457 + 3_prime_UTR_variant 3'UTR SNP C T SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000270722.5:c.*82C>T ENST00000270722 17/17 SUCCESS | |
| PRDM16 63976 GRCh37 1 3350523 3350523 + 3_prime_UTR_variant 3'UTR SNP A G rs565248172 BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000270722.5:c.*148A>G ENST00000270722 17/17 SUCCESS | |
| TP73 7161 GRCh37 1 3599629 3599629 + missense_variant Missense_Mutation SNP C T MFE280_ENDOMETRIUM ENST00000378295.4:c.71C>T p.Pro24Leu p.P24L ENST00000378295 NM_005427.3 24 cCa/cTa 3/14 SUCCESS | |
| TP73 7161 GRCh37 1 3599668 3599668 + missense_variant Missense_Mutation SNP G C NCIH661_LUNG ENST00000378295.4:c.110G>C p.Gly37Ala p.G37A ENST00000378295 NM_005427.3 37 gGg/gCg 3/14 SUCCESS | |
| TP73 7161 GRCh37 1 3599706 3599706 + missense_variant Missense_Mutation SNP G T rs770878554 NCIH520_LUNG ENST00000378295.4:c.148G>T p.Asp50Tyr p.D50Y ENST00000378295 NM_005427.3 50 Gac/Tac 3/14 SUCCESS | |
| TP73 7161 GRCh37 1 3624181 3624181 + stop_gained Nonsense_Mutation SNP C A CAPAN1_PANCREAS ENST00000378295.4:c.255C>A p.Tyr85Ter p.Y85* ENST00000378295 NM_005427.3 85 taC/taA 4/14 SUCCESS | |
| TP73 7161 GRCh37 1 3624225 3624225 + missense_variant Missense_Mutation SNP C A CORL47_LUNG ENST00000378295.4:c.299C>A p.Ala100Glu p.A100E ENST00000378295 NM_005427.3 100 gCa/gAa 4/14 SUCCESS | |
| TP73 7161 GRCh37 1 3624354 3624354 + missense_variant,splice_region_variant Missense_Mutation SNP C T rs1048065971 GCIY_STOMACH ENST00000378295.4:c.428C>T p.Thr143Met p.T143M ENST00000378295 NM_005427.3 143 aCg/aTg 4/14 SUCCESS | |
| TP73 7161 GRCh37 1 3624362 3624363 + splice_region_variant,intron_variant Splice_Region INS - C SNU520_STOMACH ENST00000378295.4:c.429+11dup p.X143_splice ENST00000378295 NM_005427.3 143 SUCCESS | |
| TP73 7161 GRCh37 1 3624382 3624382 + intron_variant Intron SNP G A rs2124396197 SHP77_LUNG ENST00000378295.4:c.429+27G>A p.*143* ENST00000378295 NM_005427.3 SUCCESS | |
| TP73 7161 GRCh37 1 3624425 3624426 + intron_variant Intron DNP CC TT COLO741_SKIN ENST00000378295.4:c.429+70_429+71delinsTT p.*143* ENST00000378295 NM_005427.3 SUCCESS | |
| TP73 7161 GRCh37 1 3639930 3639930 + missense_variant Missense_Mutation SNP C T RERFLCKJ_LUNG ENST00000378295.4:c.629C>T p.Pro210Leu p.P210L ENST00000378295 NM_005427.3 210 cCa/cTa 6/14 SUCCESS | |
| TP73 7161 GRCh37 1 3639942 3639942 + missense_variant Missense_Mutation SNP T G SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000378295.4:c.641T>G p.Leu214Arg p.L214R ENST00000378295 NM_005427.3 214 cTc/cGc 6/14 SUCCESS | |
| TP73 7161 GRCh37 1 3639948 3639948 + missense_variant Missense_Mutation SNP G A MINO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000378295.4:c.647G>A p.Arg216His p.R216H ENST00000378295 NM_005427.3 216 cGc/cAc 6/14 SUCCESS | |
| TP73 7161 GRCh37 1 3643746 3643746 + missense_variant Missense_Mutation SNP A G EN_ENDOMETRIUM ENST00000378295.4:c.800A>G p.Asn267Ser p.N267S ENST00000378295 NM_005427.3 267 aAc/aGc 7/14 SUCCESS | |
| TP73 7161 GRCh37 1 3644094 3644094 + intron_variant Intron SNP C G rs1641753619 SNU1076_UPPER_AERODIGESTIVE_TRACT ENST00000378295.4:c.843-98C>G p.*281* ENST00000378295 NM_005427.3 SUCCESS | |
| TP73 7161 GRCh37 1 3644225 3644225 + synonymous_variant Silent SNP C A NCIH2023_LUNG ENST00000378295.4:c.876C>A p.Gly292= p.G292= ENST00000378295 NM_005427.3 292 ggC/ggA 8/14 SUCCESS | |
| TP73 7161 GRCh37 1 3644228 3644228 + synonymous_variant Silent SNP C T HEC59_ENDOMETRIUM ENST00000378295.4:c.879C>T p.Arg293= p.R293= ENST00000378295 NM_005427.3 293 cgC/cgT 8/14 SUCCESS | |
| TP73 7161 GRCh37 1 3644262 3644262 + missense_variant Missense_Mutation SNP G A THP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000378295.4:c.913G>A p.Asp305Asn p.D305N ENST00000378295 NM_005427.3 305 Gat/Aat 8/14 SUCCESS | |
| 1 3644316 3644316 G G 2313287_STOMACH FAILED | |
| TP73 7161 GRCh37 1 3644733 3644733 + synonymous_variant Silent SNP C T rs564932184 MKN74_STOMACH ENST00000378295.4:c.1026C>T p.Ala342= p.A342= ENST00000378295 NM_005427.3 342 gcC/gcT 9/14 SUCCESS | |
| TP73 7161 GRCh37 1 3644750 3644750 + missense_variant Missense_Mutation SNP G T KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000378295.4:c.1043G>T p.Arg348Leu p.R348L ENST00000378295 NM_005427.3 348 cGg/cTg 9/14 SUCCESS | |
| TP73 7161 GRCh37 1 3646641 3646641 + missense_variant Missense_Mutation SNP C T GSS_STOMACH ENST00000378295.4:c.1274C>T p.Pro425Leu p.P425L ENST00000378295 NM_005427.3 425 cCc/cTc 11/14 SUCCESS | |
| TP73 7161 GRCh37 1 3646646 3646646 + missense_variant Missense_Mutation SNP G A rs774443848 SKUT1_SOFT_TISSUE ENST00000378295.4:c.1279G>A p.Val427Ile p.V427I ENST00000378295 NM_005427.3 427 Gtc/Atc 11/14 SUCCESS | |
| TP73 7161 GRCh37 1 3646662 3646662 + missense_variant Missense_Mutation SNP G A rs1184799809 SNU407_LARGE_INTESTINE ENST00000378295.4:c.1295G>A p.Gly432Asp p.G432D ENST00000378295 NM_005427.3 432 gGc/gAc 11/14 SUCCESS | |
| TP73 7161 GRCh37 1 3647575 3647575 + missense_variant Missense_Mutation SNP C T rs758514565 JHUEM7_ENDOMETRIUM ENST00000378295.4:c.1430C>T p.Ser477Leu p.S477L ENST00000378295 NM_005427.3 477 tCg/tTg 12/14 SUCCESS | |
| TP73 7161 GRCh37 1 3647576 3647576 + synonymous_variant Silent SNP G A rs777809568 GMS10_CENTRAL_NERVOUS_SYSTEM ENST00000378295.4:c.1431G>A p.Ser477= p.S477= ENST00000378295 NM_005427.3 477 tcG/tcA 12/14 SUCCESS | |
| TP73 7161 GRCh37 1 3647604 3647604 + missense_variant Missense_Mutation SNP T C rs1557591574 LNCAPCLONEFGC_PROSTATE ENST00000378295.4:c.1459T>C p.Tyr487His p.Y487H ENST00000378295 NM_005427.3 487 Tac/Cac 12/14 SUCCESS | |
| TP73 7161 GRCh37 1 3648099 3648099 + synonymous_variant Silent SNP C T HEC108_ENDOMETRIUM ENST00000378295.4:c.1557C>T p.His519= p.H519= ENST00000378295 NM_005427.3 519 caC/caT 13/14 SUCCESS | |
| TP73 7161 GRCh37 1 3649480 3649480 + missense_variant Missense_Mutation SNP T C HEC108_ENDOMETRIUM ENST00000378295.4:c.1748T>C p.Met583Thr p.M583T ENST00000378295 NM_005427.3 583 aTg/aCg 14/14 SUCCESS | |
| TP73 7161 GRCh37 1 3649505 3649505 + synonymous_variant Silent SNP C T rs775586833 LNCAPCLONEFGC_PROSTATE ENST00000378295.4:c.1773C>T p.Arg591= p.R591= ENST00000378295 NM_005427.3 591 cgC/cgT 14/14 SUCCESS | |
| TP73 7161 GRCh37 1 3649541 3649541 + synonymous_variant Silent SNP C A rs768837390 NCIH1573_LUNG ENST00000378295.4:c.1809C>A p.Gly603= p.G603= ENST00000378295 NM_005427.3 603 ggC/ggA 14/14 SUCCESS | |
| TP73 7161 GRCh37 1 3649554 3649554 + missense_variant Missense_Mutation SNP G A rs566124212 CW2_LARGE_INTESTINE ENST00000378295.4:c.1822G>A p.Glu608Lys p.E608K ENST00000378295 NM_005427.3 608 Gag/Aag 14/14 SUCCESS | |
| DFFB 1677 GRCh37 1 3774006 3774006 + 5_prime_UTR_variant 5'UTR SNP A G rs541877615 COLO679_SKIN ENST00000378209.3:c.-162A>G p.*54* ENST00000378209 NM_004402.2 1/7 SUCCESS | |
| DFFB 1677 GRCh37 1 3774091 3774091 + 5_prime_UTR_variant 5'UTR SNP A T NCIH650_LUNG ENST00000378209.3:c.-77A>T p.*26* ENST00000378209 NM_004402.2 1/7 SUCCESS | |
| DFFB 1677 GRCh37 1 3774097 3774097 + 5_prime_UTR_variant 5'UTR SNP A T rs980981846 5637_URINARY_TRACT ENST00000378209.3:c.-71A>T p.*24* ENST00000378209 NM_004402.2 1/7 SUCCESS | |
| DFFB 1677 GRCh37 1 3774129 3774129 + 5_prime_UTR_variant 5'UTR SNP C T rs758010484 KYSE140_OESOPHAGUS ENST00000378209.3:c.-39C>T p.*13* ENST00000378209 NM_004402.2 1/7 SUCCESS | |
| DFFB 1677 GRCh37 1 3774268 3774268 + missense_variant Missense_Mutation SNP G A rs746282047 RL952_ENDOMETRIUM ENST00000378209.3:c.101G>A p.Cys34Tyr p.C34Y ENST00000378209 NM_004402.2 34 tGt/tAt 1/7 SUCCESS | |
| DFFB 1677 GRCh37 1 3775325 3775325 + missense_variant Missense_Mutation SNP C T rs1176981078 SNGM_ENDOMETRIUM ENST00000378209.3:c.158C>T p.Thr53Met p.T53M ENST00000378209 NM_004402.2 53 aCg/aTg 2/7 SUCCESS | |
| DFFB 1677 GRCh37 1 3782226 3782226 + intron_variant Intron SNP G T HT115_LARGE_INTESTINE ENST00000378209.3:c.242-150G>T p.*81* ENST00000378209 NM_004402.2 SUCCESS | |
| 1 3782231 3782237 AGACCCG AGACCCG NCIH810_LUNG FAILED | |
| DFFB 1677 GRCh37 1 3782253 3782253 + intron_variant Intron SNP G T rs1644963894 JHUEM2_ENDOMETRIUM ENST00000378209.3:c.242-123G>T p.*81* ENST00000378209 NM_004402.2 SUCCESS | |
| DFFB 1677 GRCh37 1 3782280 3782280 + intron_variant Intron SNP G T RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000378209.3:c.242-96G>T p.*81* ENST00000378209 NM_004402.2 SUCCESS | |
| DFFB 1677 GRCh37 1 3782453 3782453 + missense_variant Missense_Mutation SNP C A CW2_LARGE_INTESTINE ENST00000378209.3:c.319C>A p.Leu107Met p.L107M ENST00000378209 NM_004402.2 107 Ctg/Atg 3/7 SUCCESS | |
| 1 3782497 3782499 CCT CCT JHH5_LIVER FAILED | |
| DFFB 1677 GRCh37 1 3782530 3782530 + synonymous_variant Silent SNP C T rs140438463 KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000378209.3:c.396C>T p.Ala132= p.A132= ENST00000378209 NM_004402.2 132 gcC/gcT 3/7 SUCCESS | |
| DFFB 1677 GRCh37 1 3782554 3782554 + synonymous_variant Silent SNP G A rs371766008 639V_URINARY_TRACT ENST00000378209.3:c.420G>A p.Pro140= p.P140= ENST00000378209 NM_004402.2 140 ccG/ccA 3/7 SUCCESS | |
| DFFB 1677 GRCh37 1 3786175 3786175 + missense_variant Missense_Mutation SNP T C rs757325797 SNU324_PANCREAS ENST00000378209.3:c.517T>C p.Ser173Pro p.S173P ENST00000378209 NM_004402.2 173 Tcc/Ccc 5/7 SUCCESS | |
| DFFB 1677 GRCh37 1 3786197 3786197 + missense_variant Missense_Mutation SNP C T rs374203059 FADU_UPPER_AERODIGESTIVE_TRACT ENST00000378209.3:c.539C>T p.Ala180Val p.A180V ENST00000378209 NM_004402.2 180 gCg/gTg 5/7 SUCCESS | |
| DFFB 1677 GRCh37 1 3786327 3786327 + missense_variant Missense_Mutation SNP G T SW1271_LUNG ENST00000378209.3:c.669G>T p.Trp223Cys p.W223C ENST00000378209 NM_004402.2 223 tgG/tgT 5/7 SUCCESS | |
| DFFB 1677 GRCh37 1 3800085 3800085 + missense_variant Missense_Mutation SNP G A rs532234992 639V_URINARY_TRACT ENST00000378209.3:c.797G>A p.Arg266His p.R266H ENST00000378209 NM_004402.2 266 cGc/cAc 7/7 SUCCESS | |
| DFFB 1677 GRCh37 1 3800085 3800085 + missense_variant Missense_Mutation SNP G A rs532234992 HT115_LARGE_INTESTINE ENST00000378209.3:c.797G>A p.Arg266His p.R266H ENST00000378209 NM_004402.2 266 cGc/cAc 7/7 SUCCESS | |
| DFFB 1677 GRCh37 1 3800179 3800179 + missense_variant Missense_Mutation SNP G C CALU1_LUNG ENST00000378209.3:c.891G>C p.Glu297Asp p.E297D ENST00000378209 NM_004402.2 297 gaG/gaC 7/7 SUCCESS | |
| 1 3800370 3800373 TTTT TTTT HCC366_LUNG FAILED | |
| DFFB 1677 GRCh37 1 3800376 3800377 + 3_prime_UTR_variant 3'UTR INS - T rs1331229533 EN_ENDOMETRIUM ENST00000378209.3:c.*78dup ENST00000378209 NM_004402.2 7/7 SUCCESS | |
| DFFB 1677 GRCh37 1 3800376 3800377 + 3_prime_UTR_variant 3'UTR INS - T rs1331229533 HEC59_ENDOMETRIUM ENST00000378209.3:c.*78dup ENST00000378209 NM_004402.2 7/7 SUCCESS | |
| DFFB 1677 GRCh37 1 3800379 3800379 + 3_prime_UTR_variant 3'UTR SNP T C RL952_ENDOMETRIUM ENST00000378209.3:c.*74T>C ENST00000378209 NM_004402.2 7/7 SUCCESS | |
| 1 3800392 3800392 T T JHUEM1_ENDOMETRIUM FAILED | |
| DFFB 1677 GRCh37 1 3800395 3800395 + 3_prime_UTR_variant 3'UTR SNP T G rs1570954531 SNU283_LARGE_INTESTINE ENST00000378209.3:c.*90T>G ENST00000378209 NM_004402.2 7/7 SUCCESS | |
| 1 3800430 3800430 A A MFE319_ENDOMETRIUM FAILED | |
| 1 3800430 3800430 A A SNU175_LARGE_INTESTINE FAILED | |
| CHD5 26038 GRCh37 1 6169945 6169945 + missense_variant Missense_Mutation SNP C T HEC59_ENDOMETRIUM ENST00000262450.3:c.5488G>A p.Ala1830Thr p.A1830T ENST00000262450 NM_015557.2 1830 Gct/Act 38/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6170023 6170023 + missense_variant Missense_Mutation SNP C T HS944T_SKIN ENST00000262450.3:c.5410G>A p.Glu1804Lys p.E1804K ENST00000262450 NM_015557.2 1804 Gag/Aag 38/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6171845 6171845 + missense_variant Missense_Mutation SNP C A NCIH661_LUNG ENST00000262450.3:c.5239G>T p.Gly1747Cys p.G1747C ENST00000262450 NM_015557.2 1747 Ggc/Tgc 36/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6171872 6171872 + missense_variant Missense_Mutation SNP G A rs1463998531 CW2_LARGE_INTESTINE ENST00000262450.3:c.5212C>T p.Arg1738Trp p.R1738W ENST00000262450 NM_015557.2 1738 Cgg/Tgg 36/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6171872 6171872 + missense_variant Missense_Mutation SNP G A rs1463998531 MKN74_STOMACH ENST00000262450.3:c.5212C>T p.Arg1738Trp p.R1738W ENST00000262450 NM_015557.2 1738 Cgg/Tgg 36/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6171893 6171893 + missense_variant Missense_Mutation SNP T G rs142975797 CORL95_LUNG ENST00000262450.3:c.5191A>C p.Lys1731Gln p.K1731Q ENST00000262450 NM_015557.2 1731 Aaa/Caa 36/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6172218 6172218 + missense_variant Missense_Mutation SNP C T rs1318894130 RKO_LARGE_INTESTINE ENST00000262450.3:c.5122G>A p.Ala1708Thr p.A1708T ENST00000262450 NM_015557.2 1708 Gcg/Acg 35/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6172253 6172253 + missense_variant Missense_Mutation SNP T C HEC251_ENDOMETRIUM ENST00000262450.3:c.5087A>G p.Asp1696Gly p.D1696G ENST00000262450 NM_015557.2 1696 gAc/gGc 35/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6173025 6173025 + missense_variant Missense_Mutation SNP T A HEC1A_ENDOMETRIUM ENST00000262450.3:c.4946A>T p.Asp1649Val p.D1649V ENST00000262450 NM_015557.2 1649 gAc/gTc 34/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6181180 6181180 + stop_gained Nonsense_Mutation SNP C A NCIH2030_LUNG ENST00000262450.3:c.4897G>T p.Glu1633Ter p.E1633* ENST00000262450 NM_015557.2 1633 Gag/Tag 33/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6181191 6181191 + missense_variant Missense_Mutation SNP G A rs370163365 EBC1_LUNG ENST00000262450.3:c.4886C>T p.Pro1629Leu p.P1629L ENST00000262450 NM_015557.2 1629 cCg/cTg 33/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6181198 6181199 + missense_variant Missense_Mutation DNP TC GA K562_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000262450.3:c.4878_4879inv p.Glu1626_Lys1627delinsAspGln p.E1626_K1627delinsDQ ENST00000262450 NM_015557.2 1626 gaGAag/gaTCag 33/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6181285 6181285 + missense_variant Missense_Mutation SNP C T rs761874883 HEC6_ENDOMETRIUM ENST00000262450.3:c.4792G>A p.Ala1598Thr p.A1598T ENST00000262450 NM_015557.2 1598 Gcc/Acc 33/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6181558 6181558 + missense_variant Missense_Mutation SNP A G EN_ENDOMETRIUM ENST00000262450.3:c.4775T>C p.Val1592Ala p.V1592A ENST00000262450 NM_015557.2 1592 gTc/gCc 32/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6181588 6181588 + missense_variant Missense_Mutation SNP C T COLO792_SKIN ENST00000262450.3:c.4745G>A p.Gly1582Glu p.G1582E ENST00000262450 NM_015557.2 1582 gGg/gAg 32/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6184043 6184043 + missense_variant Missense_Mutation SNP G T NCIH1876_LUNG ENST00000262450.3:c.4664C>A p.Pro1555His p.P1555H ENST00000262450 NM_015557.2 1555 cCt/cAt 31/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6184080 6184080 + missense_variant Missense_Mutation SNP T A KALS1_CENTRAL_NERVOUS_SYSTEM ENST00000262450.3:c.4627A>T p.Ile1543Phe p.I1543F ENST00000262450 NM_015557.2 1543 Atc/Ttc 31/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6184086 6184086 + missense_variant Missense_Mutation SNP C T rs1416327618 HEC251_ENDOMETRIUM ENST00000262450.3:c.4621G>A p.Glu1541Lys p.E1541K ENST00000262450 NM_015557.2 1541 Gag/Aag 31/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6184614 6184614 + missense_variant Missense_Mutation SNP A G SNU324_PANCREAS ENST00000262450.3:c.4502T>C p.Leu1501Pro p.L1501P ENST00000262450 NM_015557.2 1501 cTg/cCg 30/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6184635 6184635 + missense_variant Missense_Mutation SNP C T MDAPCA2B_PROSTATE ENST00000262450.3:c.4481G>A p.Gly1494Asp p.G1494D ENST00000262450 NM_015557.2 1494 gGc/gAc 30/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6184641 6184641 + missense_variant Missense_Mutation SNP C T rs774327302 NCIH2291_LUNG ENST00000262450.3:c.4475G>A p.Arg1492Gln p.R1492Q ENST00000262450 NM_015557.2 1492 cGg/cAg 30/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6185237 6185237 + missense_variant Missense_Mutation SNP C A RERFLCAD1_LUNG ENST00000262450.3:c.4317G>T p.Trp1439Cys p.W1439C ENST00000262450 NM_015557.2 1439 tgG/tgT 29/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6185262 6185262 + missense_variant Missense_Mutation SNP G A DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000262450.3:c.4292C>T p.Ala1431Val p.A1431V ENST00000262450 NM_015557.2 1431 gCc/gTc 29/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6185666 6185666 + missense_variant Missense_Mutation SNP C A HS821T_BONE ENST00000262450.3:c.4178G>T p.Arg1393Leu p.R1393L ENST00000262450 NM_015557.2 1393 cGa/cTa 28/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6185837 6185837 + missense_variant Missense_Mutation SNP G A rs371081328 NCIH854_LUNG ENST00000262450.3:c.4160C>T p.Pro1387Leu p.P1387L ENST00000262450 NM_015557.2 1387 cCg/cTg 27/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6186638 6186638 + missense_variant Missense_Mutation SNP C T A2058_SKIN ENST00000262450.3:c.4072G>A p.Asp1358Asn p.D1358N ENST00000262450 NM_015557.2 1358 Gac/Aac 26/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6186793 6186793 + missense_variant Missense_Mutation SNP C A NCIH2171_LUNG ENST00000262450.3:c.3917G>T p.Arg1306Leu p.R1306L ENST00000262450 NM_015557.2 1306 cGg/cTg 26/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6188133 6188133 + missense_variant Missense_Mutation SNP C G HEC59_ENDOMETRIUM ENST00000262450.3:c.3876G>C p.Gln1292His p.Q1292H ENST00000262450 NM_015557.2 1292 caG/caC 25/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6188564 6188564 + missense_variant Missense_Mutation SNP G A rs772821101 HEC1A_ENDOMETRIUM ENST00000262450.3:c.3725C>T p.Pro1242Leu p.P1242L ENST00000262450 NM_015557.2 1242 cCg/cTg 24/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6188630 6188630 + missense_variant Missense_Mutation SNP G T HCT15_LARGE_INTESTINE ENST00000262450.3:c.3659C>A p.Pro1220His p.P1220H ENST00000262450 NM_015557.2 1220 cCt/cAt 24/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6188930 6188930 + missense_variant Missense_Mutation SNP C T MDAPCA2B_PROSTATE ENST00000262450.3:c.3587G>A p.Gly1196Asp p.G1196D ENST00000262450 NM_015557.2 1196 gGc/gAc 23/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6189106 6189106 + synonymous_variant Silent SNP G A rs774052512 CW2_LARGE_INTESTINE ENST00000262450.3:c.3411C>T p.Ile1137= p.I1137= ENST00000262450 NM_015557.2 1137 atC/atT 23/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6189106 6189106 + synonymous_variant Silent SNP G A rs774052512 HUPT3_PANCREAS ENST00000262450.3:c.3411C>T p.Ile1137= p.I1137= ENST00000262450 NM_015557.2 1137 atC/atT 23/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6189124 6189124 + synonymous_variant Silent SNP G A HCC1428_BREAST ENST00000262450.3:c.3393C>T p.Phe1131= p.F1131= ENST00000262450 NM_015557.2 1131 ttC/ttT 23/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6194240 6194240 + missense_variant Missense_Mutation SNP T C KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000262450.3:c.3092A>G p.Lys1031Arg p.K1031R ENST00000262450 NM_015557.2 1031 aAg/aGg 20/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6194862 6194863 + frameshift_variant Frame_Shift_Ins INS - C SW48_LARGE_INTESTINE ENST00000262450.3:c.2927dup p.Gly977ArgfsTer63 p.G977Rfs*63 ENST00000262450 NM_015557.2 976 ggc/ggGc 19/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6195315 6195315 + missense_variant Missense_Mutation SNP G A EFO27_OVARY ENST00000262450.3:c.2845C>T p.Arg949Trp p.R949W ENST00000262450 NM_015557.2 949 Cgg/Tgg 18/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6195338 6195338 + missense_variant Missense_Mutation SNP G T NCIH358_LUNG ENST00000262450.3:c.2822C>A p.Pro941Gln p.P941Q ENST00000262450 NM_015557.2 941 cCg/cAg 18/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6195392 6195392 + missense_variant Missense_Mutation SNP A T NCIH650_LUNG ENST00000262450.3:c.2768T>A p.Leu923Gln p.L923Q ENST00000262450 NM_015557.2 923 cTg/cAg 18/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6195452 6195452 + missense_variant Missense_Mutation SNP C A RERFLCAI_LUNG ENST00000262450.3:c.2708G>T p.Gly903Val p.G903V ENST00000262450 NM_015557.2 903 gGc/gTc 18/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6196598 6196598 + missense_variant Missense_Mutation SNP A G K562_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000262450.3:c.2675T>C p.Phe892Ser p.F892S ENST00000262450 NM_015557.2 892 tTc/tCc 17/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6196670 6196670 + missense_variant Missense_Mutation SNP A T KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000262450.3:c.2603T>A p.Ile868Asn p.I868N ENST00000262450 NM_015557.2 868 aTt/aAt 17/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6196672 6196672 + missense_variant Missense_Mutation SNP C A HT115_LARGE_INTESTINE ENST00000262450.3:c.2601G>T p.Lys867Asn p.K867N ENST00000262450 NM_015557.2 867 aaG/aaT 17/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6196675 6196675 + stop_gained Nonsense_Mutation SNP G C BT474_BREAST ENST00000262450.3:c.2598C>G p.Tyr866Ter p.Y866* ENST00000262450 NM_015557.2 866 taC/taG 17/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6196688 6196688 + missense_variant Missense_Mutation SNP A G MFE296_ENDOMETRIUM ENST00000262450.3:c.2585T>C p.Val862Ala p.V862A ENST00000262450 NM_015557.2 862 gTc/gCc 17/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6196841 6196841 + missense_variant Missense_Mutation SNP A G KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000262450.3:c.2521T>C p.Trp841Arg p.W841R ENST00000262450 NM_015557.2 841 Tgg/Cgg 16/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6196922 6196922 + missense_variant Missense_Mutation SNP C T MEWO_SKIN ENST00000262450.3:c.2440G>A p.Glu814Lys p.E814K ENST00000262450 NM_015557.2 814 Gaa/Aaa 16/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6202264 6202264 + missense_variant Missense_Mutation SNP C A NCIH2023_LUNG ENST00000262450.3:c.2360G>T p.Arg787Leu p.R787L ENST00000262450 NM_015557.2 787 cGc/cTc 15/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6202288 6202288 + missense_variant Missense_Mutation SNP G A 639V_URINARY_TRACT ENST00000262450.3:c.2336C>T p.Thr779Ile p.T779I ENST00000262450 NM_015557.2 779 aCc/aTc 15/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6202291 6202291 + missense_variant Missense_Mutation SNP A G DANG_PANCREAS ENST00000262450.3:c.2333T>C p.Val778Ala p.V778A ENST00000262450 NM_015557.2 778 gTc/gCc 15/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6202503 6202503 + missense_variant Missense_Mutation SNP T C rs920691061 MHHNB11_AUTONOMIC_GANGLIA ENST00000262450.3:c.2206A>G p.Ile736Val p.I736V ENST00000262450 NM_015557.2 736 Atc/Gtc 14/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6202579 6202579 + stop_gained Nonsense_Mutation SNP C T DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000262450.3:c.2130G>A p.Trp710Ter p.W710* ENST00000262450 NM_015557.2 710 tgG/tgA 14/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6202629 6202629 + missense_variant Missense_Mutation SNP C T rs774223603 HEC59_ENDOMETRIUM ENST00000262450.3:c.2080G>A p.Asp694Asn p.D694N ENST00000262450 NM_015557.2 694 Gac/Aac 14/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6203888 6203888 + missense_variant Missense_Mutation SNP C A rs139532134 HS675T_LARGE_INTESTINE ENST00000262450.3:c.2038G>T p.Val680Leu p.V680L ENST00000262450 NM_015557.2 680 Gtg/Ttg 13/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6206411 6206411 + missense_variant Missense_Mutation SNP C T OVK18_OVARY ENST00000262450.3:c.1663G>A p.Asp555Asn p.D555N ENST00000262450 NM_015557.2 555 Gac/Aac 11/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6206431 6206431 + missense_variant Missense_Mutation SNP A G AM38_CENTRAL_NERVOUS_SYSTEM ENST00000262450.3:c.1643T>C p.Met548Thr p.M548T ENST00000262450 NM_015557.2 548 aTg/aCg 11/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6206455 6206455 + missense_variant Missense_Mutation SNP C T rs1215979211 HCT15_LARGE_INTESTINE ENST00000262450.3:c.1619G>A p.Arg540His p.R540H ENST00000262450 NM_015557.2 540 cGc/cAc 11/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6206828 6206828 + missense_variant Missense_Mutation SNP C T rs201587240 YD10B_UPPER_AERODIGESTIVE_TRACT ENST00000262450.3:c.1487G>A p.Ser496Asn p.S496N ENST00000262450 NM_015557.2 496 aGc/aAc 10/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6206846 6206846 + missense_variant Missense_Mutation SNP C T rs1453888976 HGC27_STOMACH ENST00000262450.3:c.1469G>A p.Gly490Glu p.G490E ENST00000262450 NM_015557.2 490 gGg/gAg 10/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6206921 6206921 + missense_variant Missense_Mutation SNP A G RKO_LARGE_INTESTINE ENST00000262450.3:c.1394T>C p.Leu465Pro p.L465P ENST00000262450 NM_015557.2 465 cTg/cCg 10/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6209416 6209416 + missense_variant Missense_Mutation SNP G C SNU119_OVARY ENST00000262450.3:c.1051C>G p.Gln351Glu p.Q351E ENST00000262450 NM_015557.2 351 Cag/Gag 8/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6211106 6211106 + missense_variant Missense_Mutation SNP C T rs763049065 SW1783_CENTRAL_NERVOUS_SYSTEM ENST00000262450.3:c.980G>A p.Arg327His p.R327H ENST00000262450 NM_015557.2 327 cGc/cAc 7/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6211115 6211115 + missense_variant Missense_Mutation SNP T G LS411N_LARGE_INTESTINE ENST00000262450.3:c.971A>C p.Lys324Thr p.K324T ENST00000262450 NM_015557.2 324 aAg/aCg 7/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6211176 6211176 + missense_variant Missense_Mutation SNP C T rs768430028 HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000262450.3:c.910G>A p.Ala304Thr p.A304T ENST00000262450 NM_015557.2 304 Gcc/Acc 7/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6211211 6211211 + missense_variant Missense_Mutation SNP T A NCIH650_LUNG ENST00000262450.3:c.875A>T p.Glu292Val p.E292V ENST00000262450 NM_015557.2 292 gAa/gTa 7/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6214775 6214776 + missense_variant Missense_Mutation DNP GG AA UACC257_SKIN ENST00000262450.3:c.689_690delinsTT p.Pro230Leu p.P230L ENST00000262450 NM_015557.2 230 cCC/cTT 5/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6214885 6214885 + missense_variant Missense_Mutation SNP C G rs1372526540 UACC893_BREAST ENST00000262450.3:c.580G>C p.Glu194Gln p.E194Q ENST00000262450 NM_015557.2 194 Gag/Cag 5/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6214887 6214887 + missense_variant Missense_Mutation SNP C T PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000262450.3:c.578G>A p.Arg193Gln p.R193Q ENST00000262450 NM_015557.2 193 cGg/cAg 5/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6214889 6214889 + stop_gained Nonsense_Mutation SNP C T TE1_OESOPHAGUS ENST00000262450.3:c.576G>A p.Trp192Ter p.W192* ENST00000262450 NM_015557.2 192 tgG/tgA 5/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6219407 6219407 + missense_variant Missense_Mutation SNP C T HEC265_ENDOMETRIUM ENST00000262450.3:c.376G>A p.Gly126Arg p.G126R ENST00000262450 NM_015557.2 126 Gga/Aga 3/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6219499 6219499 + missense_variant Missense_Mutation SNP G A rs778454890 OUMS23_LARGE_INTESTINE ENST00000262450.3:c.284C>T p.Pro95Leu p.P95L ENST00000262450 NM_015557.2 95 cCg/cTg 3/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6219500 6219500 + missense_variant Missense_Mutation SNP G A MEWO_SKIN ENST00000262450.3:c.283C>T p.Pro95Ser p.P95S ENST00000262450 NM_015557.2 95 Ccg/Tcg 3/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6219557 6219557 + missense_variant Missense_Mutation SNP A C AGS_STOMACH ENST00000262450.3:c.226T>G p.Ser76Ala p.S76A ENST00000262450 NM_015557.2 76 Tca/Gca 3/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6219568 6219568 + missense_variant Missense_Mutation SNP T C JHUEM7_ENDOMETRIUM ENST00000262450.3:c.215A>G p.Asn72Ser p.N72S ENST00000262450 NM_015557.2 72 aAt/aGt 3/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6228223 6228223 + missense_variant Missense_Mutation SNP C T rs761147748 SNU81_LARGE_INTESTINE ENST00000262450.3:c.194G>A p.Arg65Gln p.R65Q ENST00000262450 NM_015557.2 65 cGg/cAg 2/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6228233 6228233 + missense_variant Missense_Mutation SNP T C SNU81_LARGE_INTESTINE ENST00000262450.3:c.184A>G p.Lys62Glu p.K62E ENST00000262450 NM_015557.2 62 Aaa/Gaa 2/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6228261 6228261 + missense_variant Missense_Mutation SNP T A rs964095593 NCIH1355_LUNG ENST00000262450.3:c.156A>T p.Lys52Asn p.K52N ENST00000262450 NM_015557.2 52 aaA/aaT 2/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6228274 6228274 + missense_variant Missense_Mutation SNP G T HEC59_ENDOMETRIUM ENST00000262450.3:c.143C>A p.Pro48His p.P48H ENST00000262450 NM_015557.2 48 cCt/cAt 2/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6228277 6228277 + missense_variant Missense_Mutation SNP A T SKES1_BONE ENST00000262450.3:c.140T>A p.Leu47His p.L47H ENST00000262450 NM_015557.2 47 cTt/cAt 2/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6240043 6240043 + missense_variant Missense_Mutation SNP A G rs987514659 DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000262450.3:c.41T>C p.Leu14Pro p.L14P ENST00000262450 NM_015557.2 14 cTg/cCg 1/42 SUCCESS | |
| CHD5 26038 GRCh37 1 6240113 6240114 + 5_prime_UTR_variant 5'UTR INS - C rs375320873 KG1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000262450.3:c.-31_-30insG p.*11* ENST00000262450 NM_015557.2 1/42 SUCCESS | |
| 1 6246817 6246817 C C NCIH1436_LUNG FAILED | |
| RPL22 6146 GRCh37 1 6246851 6246852 + frameshift_variant Frame_Shift_Ins INS - T REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000234875.4:c.267dup p.Tyr90IlefsTer6 p.Y90Ifs*6 ENST00000234875 NM_000983.3 89 -/A 4/4 SUCCESS | |
| 1 6253023 6253025 ATC ATC KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| RPL22 6146 GRCh37 1 6257744 6257744 + missense_variant Missense_Mutation SNP C A QGP1_PANCREAS ENST00000234875.4:c.85G>T p.Val29Leu p.V29L ENST00000234875 NM_000983.3 29 Gta/Tta 2/4 SUCCESS | |
| RPL22 6146 GRCh37 1 6257759 6257759 + missense_variant Missense_Mutation SNP C A HCC1833_LUNG ENST00000234875.4:c.70G>T p.Asp24Tyr p.D24Y ENST00000234875 NM_000983.3 24 Gat/Tat 2/4 SUCCESS | |
| RPL22 6146 GRCh37 1 6257780 6257780 + stop_gained Nonsense_Mutation SNP G A CJM_SKIN ENST00000234875.4:c.49C>T p.Gln17Ter p.Q17* ENST00000234875 NM_000983.3 17 Caa/Taa 2/4 SUCCESS | |
| RPL22 6146 GRCh37 1 6257784 6257785 + frameshift_variant Frame_Shift_Ins INS - T rs759765382 DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000234875.4:c.44dup p.Lys16GlufsTer9 p.K16Efs*9 ENST00000234875 NM_000983.3 15 aag/aaAg 2/4 SUCCESS | |
| RPL22 6146 GRCh37 1 6257784 6257785 + frameshift_variant Frame_Shift_Ins INS - T rs759765382 EN_ENDOMETRIUM ENST00000234875.4:c.44dup p.Lys16GlufsTer9 p.K16Efs*9 ENST00000234875 NM_000983.3 15 aag/aaAg 2/4 SUCCESS | |
| RPL22 6146 GRCh37 1 6257784 6257785 + frameshift_variant Frame_Shift_Ins INS - T rs759765382 JHUEM1_ENDOMETRIUM ENST00000234875.4:c.44dup p.Lys16GlufsTer9 p.K16Efs*9 ENST00000234875 NM_000983.3 15 aag/aaAg 2/4 SUCCESS | |
| RPL22 6146 GRCh37 1 6257784 6257785 + frameshift_variant Frame_Shift_Ins INS - T rs759765382 PL21_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000234875.4:c.44dup p.Lys16GlufsTer9 p.K16Efs*9 ENST00000234875 NM_000983.3 15 aag/aaAg 2/4 SUCCESS | |
| RPL22 6146 GRCh37 1 6257784 6257785 + frameshift_variant Frame_Shift_Ins INS - T rs759765382 SNU1_STOMACH ENST00000234875.4:c.44dup p.Lys16GlufsTer9 p.K16Efs*9 ENST00000234875 NM_000983.3 15 aag/aaAg 2/4 SUCCESS | |
| 1 6257785 6257785 T T 22RV1_PROSTATE FAILED | |
| 1 6257785 6257785 T T 2313287_STOMACH FAILED | |
| 1 6257785 6257785 T T AN3CA_ENDOMETRIUM FAILED | |
| 1 6257785 6257785 T T CAL51_BREAST FAILED | |
| 1 6257785 6257785 T T CCK81_LARGE_INTESTINE FAILED | |
| 1 6257785 6257785 T T CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 6257785 6257785 T T COLO684_ENDOMETRIUM FAILED | |
| 1 6257785 6257785 T T CW2_LARGE_INTESTINE FAILED | |
| 1 6257785 6257785 T T DV90_LUNG FAILED | |
| 1 6257785 6257785 T T HCT116_LARGE_INTESTINE FAILED | |
| 1 6257785 6257785 T T HCT15_LARGE_INTESTINE FAILED | |
| 1 6257785 6257785 T T HEC108_ENDOMETRIUM FAILED | |
| 1 6257785 6257785 T T HEC151_ENDOMETRIUM FAILED | |
| 1 6257785 6257785 T T HEC1A_ENDOMETRIUM FAILED | |
| 1 6257785 6257785 T T HEC1B_ENDOMETRIUM FAILED | |
| 1 6257785 6257785 T T HEC265_ENDOMETRIUM FAILED | |
| 1 6257785 6257785 T T HEC59_ENDOMETRIUM FAILED | |
| 1 6257785 6257785 T T HEC6_ENDOMETRIUM FAILED | |
| 1 6257785 6257785 T T IGROV1_OVARY FAILED | |
| 1 6257785 6257785 T T IM95_STOMACH FAILED | |
| 1 6257785 6257785 T T ISHIKAWAHERAKLIO02ER_ENDOMETRIUM FAILED | |
| 1 6257785 6257785 T T KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 6257785 6257785 T T KM12_LARGE_INTESTINE FAILED | |
| 1 6257785 6257785 T T LNCAPCLONEFGC_PROSTATE FAILED | |
| 1 6257785 6257785 T T LOVO_LARGE_INTESTINE FAILED | |
| 1 6257785 6257785 T T LS180_LARGE_INTESTINE FAILED | |
| 1 6257785 6257785 T T MDAPCA2B_PROSTATE FAILED | |
| 1 6257785 6257785 T T MFE296_ENDOMETRIUM FAILED | |
| 1 6257785 6257785 T T OVK18_OVARY FAILED | |
| 1 6257785 6257785 T T RKO_LARGE_INTESTINE FAILED | |
| 1 6257785 6257785 T T RL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 6257785 6257785 T T RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 6257785 6257785 T T SKUT1_SOFT_TISSUE FAILED | |
| 1 6257785 6257785 T T SNGM_ENDOMETRIUM FAILED | |
| 1 6257785 6257785 T T SNU175_LARGE_INTESTINE FAILED | |
| 1 6257785 6257785 T T SNU324_PANCREAS FAILED | |
| 1 6257785 6257785 T T SNU349_KIDNEY FAILED | |
| 1 6257785 6257785 T T SNU407_LARGE_INTESTINE FAILED | |
| 1 6257785 6257785 T T SNU520_STOMACH FAILED | |
| 1 6257785 6257785 T T SNUC2A_LARGE_INTESTINE FAILED | |
| 1 6257785 6257785 T T SNUC4_LARGE_INTESTINE FAILED | |
| 1 6257785 6257785 T T SNUC5_LARGE_INTESTINE FAILED | |
| 1 6257785 6257785 T T TGBC11TKB_STOMACH FAILED | |
| 1 6257785 6257785 T T TOV21G_OVARY FAILED | |
| 1 6257785 6257786 TT TT GP2D_LARGE_INTESTINE FAILED | |
| 1 6257785 6257786 TT TT RL952_ENDOMETRIUM FAILED | |
| RPL22 6146 GRCh37 1 6257793 6257794 + frameshift_variant Frame_Shift_Ins INS - C rs752855455 MFE319_ENDOMETRIUM ENST00000234875.4:c.35dup p.Lys13GlnfsTer12 p.K13Qfs*12 ENST00000234875 NM_000983.3 12 ggc/ggGc 2/4 SUCCESS | |
| RPL22 6146 GRCh37 1 6257799 6257800 + frameshift_variant Frame_Shift_Ins INS - A KMRC1_KIDNEY ENST00000234875.4:c.29_30insT p.Lys10AsnfsTer15 p.K10Nfs*15 ENST00000234875 NM_000983.3 10 aag/aaTg 2/4 SUCCESS | |
| TNFRSF9 3604 GRCh37 1 7980775 7980776 + 3_prime_UTR_variant 3'UTR INS - G NUGC3_STOMACH ENST00000377507.3:c.*119_*120insC ENST00000377507 NM_001561.5 8/8 SUCCESS | |
| TNFRSF9 3604 GRCh37 1 7980852 7980852 + 3_prime_UTR_variant 3'UTR SNP G C rs1002237607 HMCB_SKIN ENST00000377507.3:c.*43C>G ENST00000377507 NM_001561.5 8/8 SUCCESS | |
| TNFRSF9 3604 GRCh37 1 7980858 7980858 + 3_prime_UTR_variant 3'UTR SNP T G HEC251_ENDOMETRIUM ENST00000377507.3:c.*37A>C ENST00000377507 NM_001561.5 8/8 SUCCESS | |
| 1 7980912 7980914 CTT CTT KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| TNFRSF9 3604 GRCh37 1 7993236 7993236 + missense_variant Missense_Mutation SNP T C rs144908104 HCC1359_LUNG ENST00000377507.3:c.665A>G p.Tyr222Cys p.Y222C ENST00000377507 NM_001561.5 222 tAt/tGt 7/8 SUCCESS | |
| TNFRSF9 3604 GRCh37 1 7993326 7993326 + missense_variant Missense_Mutation SNP A G RKO_LARGE_INTESTINE ENST00000377507.3:c.575T>C p.Leu192Pro p.L192P ENST00000377507 NM_001561.5 192 cTt/cCt 7/8 SUCCESS | |
| TNFRSF9 3604 GRCh37 1 7997781 7997781 + stop_gained Nonsense_Mutation SNP G A rs866872467 HS729_SOFT_TISSUE ENST00000377507.3:c.382C>T p.Gln128Ter p.Q128* ENST00000377507 NM_001561.5 128 Cag/Tag 5/8 SUCCESS | |
| 1 7998254 7998254 T T HEC151_ENDOMETRIUM FAILED | |
| 1 7998254 7998254 T T PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 7998254 7998254 T T RL952_ENDOMETRIUM FAILED | |
| 1 7998254 7998254 T T SNUC4_LARGE_INTESTINE FAILED | |
| TNFRSF9 3604 GRCh37 1 7998318 7998318 + missense_variant Missense_Mutation SNP C G rs944620231 GSU_STOMACH ENST00000377507.3:c.281G>C p.Cys94Ser p.C94S ENST00000377507 NM_001561.5 94 tGc/tCc 4/8 SUCCESS | |
| TNFRSF9 3604 GRCh37 1 7999960 7999960 + missense_variant Missense_Mutation SNP G T TEN_ENDOMETRIUM ENST00000377507.3:c.95C>A p.Pro32Gln p.P32Q ENST00000377507 NM_001561.5 32 cCa/cAa 2/8 SUCCESS | |
| TNFRSF9 3604 GRCh37 1 7999988 7999988 + missense_variant Missense_Mutation SNP A G HCT116_LARGE_INTESTINE ENST00000377507.3:c.67T>C p.Ser23Pro p.S23P ENST00000377507 NM_001561.5 23 Tca/Cca 2/8 SUCCESS | |
| TNFRSF9 3604 GRCh37 1 8000005 8000005 + missense_variant Missense_Mutation SNP T G JHUEM7_ENDOMETRIUM ENST00000377507.3:c.50A>C p.Asn17Thr p.N17T ENST00000377507 NM_001561.5 17 aAc/aCc 2/8 SUCCESS | |
| TNFRSF9 3604 GRCh37 1 8000035 8000035 + missense_variant Missense_Mutation SNP T C rs764389515 SNU475_LIVER ENST00000377507.3:c.20A>G p.Asn7Ser p.N7S ENST00000377507 NM_001561.5 7 aAc/aGc 2/8 SUCCESS | |
| TNFRSF9 3604 GRCh37 1 8000053 8000053 + start_lost Translation_Start_Site SNP A G rs373429328 K562_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000377507.3:c.2T>C p.Met1? p.M1? ENST00000377507 NM_001561.5 1 aTg/aCg 2/8 SUCCESS | |
| PIK3CD 5293 GRCh37 1 9770524 9770524 + missense_variant Missense_Mutation SNP G A MDAMB453_BREAST ENST00000377346.4:c.11G>A p.Gly4Glu p.G4E ENST00000377346 NM_005026.3 4 gGg/gAg 3/24 SUCCESS | |
| PIK3CD 5293 GRCh37 1 9770545 9770545 + missense_variant Missense_Mutation SNP T G HEC251_ENDOMETRIUM ENST00000377346.4:c.32T>G p.Phe11Cys p.F11C ENST00000377346 NM_005026.3 11 tTc/tGc 3/24 SUCCESS | |
| PIK3CD 5293 GRCh37 1 9775905 9775905 + splice_acceptor_variant Splice_Site SNP A G 2313287_STOMACH ENST00000377346.4:c.371-2A>G p.X124_splice ENST00000377346 NM_005026.3 124 SUCCESS | |
| PIK3CD 5293 GRCh37 1 9775990 9775990 + missense_variant Missense_Mutation SNP G A rs138463758 MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000377346.4:c.454G>A p.Ala152Thr p.A152T ENST00000377346 NM_005026.3 152 Gcc/Acc 5/24 SUCCESS | |
| PIK3CD 5293 GRCh37 1 9776541 9776541 + missense_variant Missense_Mutation SNP C T rs779226622 HEC1A_ENDOMETRIUM ENST00000377346.4:c.644C>T p.Ala215Val p.A215V ENST00000377346 NM_005026.3 215 gCg/gTg 6/24 SUCCESS | |
| PIK3CD 5293 GRCh37 1 9776550 9776551 + missense_variant Missense_Mutation DNP CC TT COLO741_SKIN ENST00000377346.4:c.653_654delinsTT p.Ala218Val p.A218V ENST00000377346 NM_005026.3 218 gCC/gTT 6/24 SUCCESS | |
| PIK3CD 5293 GRCh37 1 9776582 9776582 + missense_variant Missense_Mutation SNP C T rs761298080 SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000377346.4:c.685C>T p.Arg229Trp p.R229W ENST00000377346 NM_005026.3 229 Cgg/Tgg 6/24 SUCCESS | |
| PIK3CD 5293 GRCh37 1 9776583 9776583 + missense_variant Missense_Mutation SNP G A rs1224681360 SKUT1_SOFT_TISSUE ENST00000377346.4:c.686G>A p.Arg229Gln p.R229Q ENST00000377346 NM_005026.3 229 cGg/cAg 6/24 SUCCESS | |
| PIK3CD 5293 GRCh37 1 9777117 9777117 + missense_variant Missense_Mutation SNP C A SNU1_STOMACH ENST00000377346.4:c.881C>A p.Pro294His p.P294H ENST00000377346 NM_005026.3 294 cCc/cAc 7/24 SUCCESS | |
| 1 9778839 9778839 G G SNU520_STOMACH FAILED | |
| PIK3CD 5293 GRCh37 1 9778888 9778888 + missense_variant Missense_Mutation SNP G A rs373591202 HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000377346.4:c.1157G>A p.Arg386His p.R386H ENST00000377346 NM_005026.3 386 cGc/cAc 9/24 SUCCESS | |
| 1 9778953 9778955 AAG AAG JHUEM1_ENDOMETRIUM FAILED | |
| 1 9780216 9780216 C C ISHIKAWAHERAKLIO02ER_ENDOMETRIUM FAILED | |
| PIK3CD 5293 GRCh37 1 9780224 9780224 + missense_variant Missense_Mutation SNP C T rs368722127 SNU601_STOMACH ENST00000377346.4:c.1394C>T p.Thr465Met p.T465M ENST00000377346 NM_005026.3 465 aCg/aTg 11/24 SUCCESS | |
| PIK3CD 5293 GRCh37 1 9780598 9780598 + intron_variant Intron SNP T C rs371870925 KNS60_CENTRAL_NERVOUS_SYSTEM ENST00000377346.4:c.1471-71T>C p.*491* ENST00000377346 NM_005026.3 SUCCESS | |
| PIK3CD 5293 GRCh37 1 9780878 9780878 + missense_variant Missense_Mutation SNP C G SNU1076_UPPER_AERODIGESTIVE_TRACT ENST00000377346.4:c.1600C>G p.Leu534Val p.L534V ENST00000377346 NM_005026.3 534 Ctg/Gtg 13/24 SUCCESS | |
| PIK3CD 5293 GRCh37 1 9781272 9781272 + missense_variant Missense_Mutation SNP G C rs143068130 HT55_LARGE_INTESTINE ENST00000377346.4:c.1777G>C p.Gly593Arg p.G593R ENST00000377346 NM_005026.3 593 Ggc/Cgc 14/24 SUCCESS | |
| PIK3CD 5293 GRCh37 1 9781517 9781517 + missense_variant Missense_Mutation SNP C G rs1156998927 HCC1500_BREAST ENST00000377346.4:c.1827C>G p.Phe609Leu p.F609L ENST00000377346 NM_005026.3 609 ttC/ttG 15/24 SUCCESS | |
| PIK3CD 5293 GRCh37 1 9781518 9781518 + stop_gained Nonsense_Mutation SNP C T rs1410207038 HEC265_ENDOMETRIUM ENST00000377346.4:c.1828C>T p.Gln610Ter p.Q610* ENST00000377346 NM_005026.3 610 Cag/Tag 15/24 SUCCESS | |
| PIK3CD 5293 GRCh37 1 9781536 9781536 + missense_variant Missense_Mutation SNP G A DM3_PLEURA ENST00000377346.4:c.1846G>A p.Val616Met p.V616M ENST00000377346 NM_005026.3 616 Gtg/Atg 15/24 SUCCESS | |
| PIK3CD 5293 GRCh37 1 9781836 9781836 + missense_variant Missense_Mutation SNP C T rs780565270 VMRCRCW_KIDNEY ENST00000377346.4:c.1973C>T p.Pro658Leu p.P658L ENST00000377346 NM_005026.3 658 cCg/cTg 16/24 SUCCESS | |
| PIK3CD 5293 GRCh37 1 9781912 9781912 + missense_variant Missense_Mutation SNP G A rs1192325470 TE8_OESOPHAGUS ENST00000377346.4:c.2049G>A p.Met683Ile p.M683I ENST00000377346 NM_005026.3 683 atG/atA 16/24 SUCCESS | |
| 1 9782032 9782032 G G HCT116_LARGE_INTESTINE FAILED | |
| PIK3CD 5293 GRCh37 1 9782150 9782150 + missense_variant Missense_Mutation SNP C A HT115_LARGE_INTESTINE ENST00000377346.4:c.2173C>A p.Leu725Ile p.L725I ENST00000377346 NM_005026.3 725 Cta/Ata 17/24 SUCCESS | |
| PIK3CD 5293 GRCh37 1 9782353 9782353 + missense_variant Missense_Mutation SNP G T KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000377346.4:c.2286G>T p.Met762Ile p.M762I ENST00000377346 NM_005026.3 762 atG/atT 18/24 SUCCESS | |
| PIK3CD 5293 GRCh37 1 9782364 9782364 + missense_variant Missense_Mutation SNP A G rs1457681300 KP2_PANCREAS ENST00000377346.4:c.2297A>G p.Glu766Gly p.E766G ENST00000377346 NM_005026.3 766 gAg/gGg 18/24 SUCCESS | |
| PIK3CD 5293 GRCh37 1 9782387 9782387 + missense_variant Missense_Mutation SNP G A rs370932461 TUHR4TKB_KIDNEY ENST00000377346.4:c.2320G>A p.Val774Met p.V774M ENST00000377346 NM_005026.3 774 Gtg/Atg 18/24 SUCCESS | |
| PIK3CD 5293 GRCh37 1 9783217 9783217 + missense_variant Missense_Mutation SNP C T rs140820694 UACC893_BREAST ENST00000377346.4:c.2461C>T p.Arg821Cys p.R821C ENST00000377346 NM_005026.3 821 Cgc/Tgc 20/24 SUCCESS | |
| PIK3CD 5293 GRCh37 1 9784112 9784112 + missense_variant Missense_Mutation SNP C T MDAPCA2B_PROSTATE ENST00000377346.4:c.2680C>T p.Arg894Trp p.R894W ENST00000377346 NM_005026.3 894 Cgg/Tgg 21/24 SUCCESS | |
| PIK3CD 5293 GRCh37 1 9784142 9784142 + missense_variant Missense_Mutation SNP A C JHUEM2_ENDOMETRIUM ENST00000377346.4:c.2710A>C p.Ser904Arg p.S904R ENST00000377346 NM_005026.3 904 Agt/Cgt 21/24 SUCCESS | |
| PIK3CD 5293 GRCh37 1 9784908 9784908 + missense_variant Missense_Mutation SNP G A rs750392184 RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000377346.4:c.2911G>A p.Gly971Arg p.G971R ENST00000377346 NM_005026.3 971 Ggg/Agg 23/24 SUCCESS | |
| PIK3CD 5293 GRCh37 1 9787030 9787030 + missense_variant Missense_Mutation SNP G A rs397518423 HT115_LARGE_INTESTINE ENST00000377346.4:c.3061G>A p.Glu1021Lys p.E1021K ENST00000377346 NM_005026.3 1021 Gaa/Aaa 24/24 SUCCESS | |
| PIK3CD 5293 GRCh37 1 9787030 9787030 + missense_variant Missense_Mutation SNP G A rs397518423 L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000377346.4:c.3061G>A p.Glu1021Lys p.E1021K ENST00000377346 NM_005026.3 1021 Gaa/Aaa 24/24 SUCCESS | |
| PIK3CD 5293 GRCh37 1 9787265 9787265 + 3_prime_UTR_variant 3'UTR SNP A T YD38_UPPER_AERODIGESTIVE_TRACT ENST00000377346.4:c.*161A>T ENST00000377346 NM_005026.3 24/24 SUCCESS | |
| PIK3CD 5293 GRCh37 1 9787354 9787354 + 3_prime_UTR_variant 3'UTR SNP T G HCC33_LUNG ENST00000377346.4:c.*250T>G ENST00000377346 NM_005026.3 24/24 SUCCESS | |
| 1 10521380 10521380 A A CCK81_LARGE_INTESTINE FAILED | |
| 1 10521380 10521380 A A JHUEM2_ENDOMETRIUM FAILED | |
| 1 10521380 10521381 AA AA SNUC4_LARGE_INTESTINE FAILED | |
| DFFA 1676 GRCh37 1 10521402 10521402 + 3_prime_UTR_variant 3'UTR SNP C T rs1014529550 SW48_LARGE_INTESTINE ENST00000377038.3:c.*145G>A ENST00000377038 NM_004401.2 6/6 SUCCESS | |
| DFFA 1676 GRCh37 1 10521502 10521502 + 3_prime_UTR_variant 3'UTR SNP A T COLO792_SKIN ENST00000377038.3:c.*45T>A ENST00000377038 NM_004401.2 6/6 SUCCESS | |
| DFFA 1676 GRCh37 1 10521576 10521576 + missense_variant Missense_Mutation SNP G A KYSE180_OESOPHAGUS ENST00000377038.3:c.967C>T p.Pro323Ser p.P323S ENST00000377038 NM_004401.2 323 Cct/Tct 6/6 SUCCESS | |
| DFFA 1676 GRCh37 1 10521624 10521624 + missense_variant Missense_Mutation SNP G A rs777251360 MKN74_STOMACH ENST00000377038.3:c.919C>T p.Arg307Trp p.R307W ENST00000377038 NM_004401.2 307 Cgg/Tgg 6/6 SUCCESS | |
| DFFA 1676 GRCh37 1 10521769 10521769 + splice_polypyrimidine_tract_variant,intron_variant Splice_Region SNP G T rs370194873 CALU1_LUNG ENST00000377038.3:c.784-10C>A p.*262* ENST00000377038 NM_004401.2 SUCCESS | |
| DFFA 1676 GRCh37 1 10521798 10521798 + intron_variant Intron SNP T A SQ1_LUNG ENST00000377038.3:c.784-39A>T p.*262* ENST00000377038 NM_004401.2 SUCCESS | |
| DFFA 1676 GRCh37 1 10521913 10521913 + intron_variant Intron SNP C T rs748992357 SW780_URINARY_TRACT ENST00000377038.3:c.784-154G>A p.*262* ENST00000377038 NM_004401.2 SUCCESS | |
| DFFA 1676 GRCh37 1 10523162 10523162 + missense_variant Missense_Mutation SNP T C LS180_LARGE_INTESTINE ENST00000377038.3:c.736A>G p.Arg246Gly p.R246G ENST00000377038 NM_004401.2 246 Agg/Ggg 5/6 SUCCESS | |
| 1 10523556 10523559 GACT GACT BICR16_UPPER_AERODIGESTIVE_TRACT FAILED | |
| DFFA 1676 GRCh37 1 10523562 10523562 + missense_variant Missense_Mutation SNP C T rs574523820 HCC2935_LUNG ENST00000377038.3:c.557G>A p.Arg186His p.R186H ENST00000377038 NM_004401.2 186 cGt/cAt 4/6 SUCCESS | |
| DFFA 1676 GRCh37 1 10527303 10527303 + missense_variant Missense_Mutation SNP T C IM95_STOMACH ENST00000377038.3:c.385A>G p.Arg129Gly p.R129G ENST00000377038 NM_004401.2 129 Agg/Ggg 3/6 SUCCESS | |
| DFFA 1676 GRCh37 1 10529333 10529333 + missense_variant Missense_Mutation SNP C A NCIH2342_LUNG ENST00000377038.3:c.199G>T p.Gly67Cys p.G67C ENST00000377038 NM_004401.2 67 Ggc/Tgc 2/6 SUCCESS | |
| DFFA 1676 GRCh37 1 10529384 10529384 + missense_variant Missense_Mutation SNP G C HCC1428_BREAST ENST00000377038.3:c.148C>G p.Leu50Val p.L50V ENST00000377038 NM_004401.2 50 Ctg/Gtg 2/6 SUCCESS | |
| MTOR 2475 GRCh37 1 11167370 11167370 + 3_prime_UTR_variant 3'UTR SNP G A MFE319_ENDOMETRIUM ENST00000361445.4:c.*172C>T ENST00000361445 NM_004958.3 58/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11167415 11167415 + 3_prime_UTR_variant 3'UTR SNP C T L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000361445.4:c.*127G>A ENST00000361445 NM_004958.3 58/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11167419 11167419 + 3_prime_UTR_variant 3'UTR SNP T G rs543368014 KMS12BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000361445.4:c.*123A>C ENST00000361445 NM_004958.3 58/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11167509 11167510 + 3_prime_UTR_variant 3'UTR INS - A rs1557732962 EN_ENDOMETRIUM ENST00000361445.4:c.*32dup ENST00000361445 NM_004958.3 58/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11167524 11167524 + 3_prime_UTR_variant 3'UTR SNP G A rs768735847 MFE319_ENDOMETRIUM ENST00000361445.4:c.*18C>T ENST00000361445 NM_004958.3 58/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11169350 11169350 + missense_variant Missense_Mutation SNP T C COLO684_ENDOMETRIUM ENST00000361445.4:c.7525A>G p.Thr2509Ala p.T2509A ENST00000361445 NM_004958.3 2509 Act/Gct 56/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11169377 11169377 + missense_variant Missense_Mutation SNP T A rs1057519916 JHOM2B_OVARY ENST00000361445.4:c.7498A>T p.Ile2500Phe p.I2500F ENST00000361445 NM_004958.3 2500 Att/Ttt 56/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11169407 11169407 + missense_variant Missense_Mutation SNP G C L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000361445.4:c.7468C>G p.Pro2490Ala p.P2490A ENST00000361445 NM_004958.3 2490 Cca/Gca 56/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11174386 11174386 + missense_variant Missense_Mutation SNP C A MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000361445.4:c.7289G>T p.Arg2430Met p.R2430M ENST00000361445 NM_004958.3 2430 aGg/aTg 53/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11174395 11174395 + missense_variant Missense_Mutation SNP A C ST486_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000361445.4:c.7280T>G p.Leu2427Arg p.L2427R ENST00000361445 NM_004958.3 2427 cTg/cGg 53/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11174511 11174511 + splice_acceptor_variant Splice_Site SNP C A SW48_LARGE_INTESTINE ENST00000361445.4:c.7165-1G>T p.X2389_splice ENST00000361445 NM_004958.3 2389 SUCCESS | |
| MTOR 2475 GRCh37 1 11174931 11174931 + missense_variant Missense_Mutation SNP C T HEC108_ENDOMETRIUM ENST00000361445.4:c.7103G>A p.Arg2368Gln p.R2368Q ENST00000361445 NM_004958.3 2368 cGa/cAa 52/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11175509 11175509 + missense_variant Missense_Mutation SNP T C NCIH446_LUNG ENST00000361445.4:c.7033A>G p.Met2345Val p.M2345V ENST00000361445 NM_004958.3 2345 Atg/Gtg 51/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11175523 11175523 + missense_variant,splice_region_variant Missense_Mutation SNP T C L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000361445.4:c.7019A>G p.His2340Arg p.H2340R ENST00000361445 NM_004958.3 2340 cAc/cGc 51/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11182052 11182052 + missense_variant Missense_Mutation SNP T G SNU520_STOMACH ENST00000361445.4:c.6794A>C p.His2265Pro p.H2265P ENST00000361445 NM_004958.3 2265 cAt/cCt 48/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11182085 11182085 + missense_variant Missense_Mutation SNP C A HEC1A_ENDOMETRIUM ENST00000361445.4:c.6761G>T p.Arg2254Met p.R2254M ENST00000361445 NM_004958.3 2254 aGg/aTg 48/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11182133 11182133 + missense_variant Missense_Mutation SNP C T CW2_LARGE_INTESTINE ENST00000361445.4:c.6713G>A p.Gly2238Asp p.G2238D ENST00000361445 NM_004958.3 2238 gGc/gAc 48/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11182151 11182151 + missense_variant Missense_Mutation SNP G A KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000361445.4:c.6695C>T p.Thr2232Ile p.T2232I ENST00000361445 NM_004958.3 2232 aCc/aTc 48/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11182154 11182154 + missense_variant Missense_Mutation SNP G C SNU1196_BILIARY_TRACT ENST00000361445.4:c.6692C>G p.Ser2231Trp p.S2231W ENST00000361445 NM_004958.3 2231 tCg/tGg 48/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11184568 11184568 + missense_variant Missense_Mutation SNP G A HEC251_ENDOMETRIUM ENST00000361445.4:c.6649C>T p.Arg2217Trp p.R2217W ENST00000361445 NM_004958.3 2217 Cgg/Tgg 47/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11184573 11184573 + missense_variant Missense_Mutation SNP G T rs587777894 JHUEM7_ENDOMETRIUM ENST00000361445.4:c.6644C>A p.Ser2215Tyr p.S2215Y ENST00000361445 NM_004958.3 2215 tCt/tAt 47/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11186751 11186751 + missense_variant Missense_Mutation SNP G A rs752458445 A375_SKIN ENST00000361445.4:c.6454C>T p.Arg2152Cys p.R2152C ENST00000361445 NM_004958.3 2152 Cgc/Tgc 46/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11187683 11187683 + stop_gained,splice_region_variant Nonsense_Mutation SNP G A NCIH1792_LUNG ENST00000361445.4:c.6214C>T p.Gln2072Ter p.Q2072* ENST00000361445 NM_004958.3 2072 Cag/Tag 44/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11187808 11187808 + missense_variant Missense_Mutation SNP C A BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000361445.4:c.6089G>T p.Gly2030Val p.G2030V ENST00000361445 NM_004958.3 2030 gGc/gTc 44/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11187847 11187847 + missense_variant Missense_Mutation SNP A G BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000361445.4:c.6050T>C p.Ile2017Thr p.I2017T ENST00000361445 NM_004958.3 2017 aTc/aCc 44/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11187850 11187850 + missense_variant Missense_Mutation SNP A C SNU738_CENTRAL_NERVOUS_SYSTEM ENST00000361445.4:c.6047T>G p.Leu2016Arg p.L2016R ENST00000361445 NM_004958.3 2016 cTg/cGg 44/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11187857 11187857 + missense_variant Missense_Mutation SNP C T rs1057519780 UBLC1_URINARY_TRACT ENST00000361445.4:c.6040G>A p.Glu2014Lys p.E2014K ENST00000361445 NM_004958.3 2014 Gag/Aag 44/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11188078 11188078 + missense_variant Missense_Mutation SNP C G TUHR10TKB_KIDNEY ENST00000361445.4:c.6016G>C p.Val2006Leu p.V2006L ENST00000361445 NM_004958.3 2006 Gtc/Ctc 43/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11188138 11188138 + missense_variant Missense_Mutation SNP C T TEN_ENDOMETRIUM ENST00000361445.4:c.5956G>A p.Ala1986Thr p.A1986T ENST00000361445 NM_004958.3 1986 Gcc/Acc 43/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11188153 11188153 + missense_variant Missense_Mutation SNP T C MFE319_ENDOMETRIUM ENST00000361445.4:c.5941A>G p.Lys1981Glu p.K1981E ENST00000361445 NM_004958.3 1981 Aag/Gag 43/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11188174 11188174 + missense_variant Missense_Mutation SNP A G KMRC2_KIDNEY ENST00000361445.4:c.5920T>C p.Tyr1974His p.Y1974H ENST00000361445 NM_004958.3 1974 Tac/Cac 43/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11188578 11188578 + missense_variant Missense_Mutation SNP G A GP2D_LARGE_INTESTINE ENST00000361445.4:c.5843C>T p.Thr1948Met p.T1948M ENST00000361445 NM_004958.3 1948 aCg/aTg 42/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11188611 11188611 + splice_acceptor_variant Splice_Site SNP T C LOVO_LARGE_INTESTINE ENST00000361445.4:c.5812-2A>G p.X1938_splice ENST00000361445 NM_004958.3 1938 SUCCESS | |
| MTOR 2475 GRCh37 1 11188961 11188961 + missense_variant Missense_Mutation SNP T A CORL23_LUNG ENST00000361445.4:c.5762A>T p.Glu1921Val p.E1921V ENST00000361445 NM_004958.3 1921 gAg/gTg 41/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11189801 11189801 + missense_variant Missense_Mutation SNP G A ISHIKAWAHERAKLIO02ER_ENDOMETRIUM ENST00000361445.4:c.5708C>T p.Thr1903Ile p.T1903I ENST00000361445 NM_004958.3 1903 aCa/aTa 40/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11189823 11189823 + stop_gained Nonsense_Mutation SNP G A SNUC5_LARGE_INTESTINE ENST00000361445.4:c.5686C>T p.Arg1896Ter p.R1896* ENST00000361445 NM_004958.3 1896 Cga/Tga 40/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11189829 11189829 + missense_variant Missense_Mutation SNP A C SNU81_LARGE_INTESTINE ENST00000361445.4:c.5680T>G p.Leu1894Val p.L1894V ENST00000361445 NM_004958.3 1894 Ttg/Gtg 40/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11190689 11190689 + missense_variant Missense_Mutation SNP G T NCIH522_LUNG ENST00000361445.4:c.5510C>A p.Thr1837Asn p.T1837N ENST00000361445 NM_004958.3 1837 aCt/aAt 39/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11190693 11190693 + missense_variant Missense_Mutation SNP C T rs180992388 IPC298_SKIN ENST00000361445.4:c.5506G>A p.Ala1836Thr p.A1836T ENST00000361445 NM_004958.3 1836 Gcc/Acc 39/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11190693 11190693 + missense_variant Missense_Mutation SNP C T rs180992388 RERFLCAD1_LUNG ENST00000361445.4:c.5506G>A p.Ala1836Thr p.A1836T ENST00000361445 NM_004958.3 1836 Gcc/Acc 39/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11190734 11190734 + missense_variant Missense_Mutation SNP C A SNGM_ENDOMETRIUM ENST00000361445.4:c.5465G>T p.Gly1822Val p.G1822V ENST00000361445 NM_004958.3 1822 gGg/gTg 39/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11190767 11190767 + missense_variant Missense_Mutation SNP C T rs751393552 QGP1_PANCREAS ENST00000361445.4:c.5432G>A p.Arg1811His p.R1811H ENST00000361445 NM_004958.3 1811 cGc/cAc 39/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11190797 11190797 + missense_variant Missense_Mutation SNP A C NCIH522_LUNG ENST00000361445.4:c.5402T>G p.Val1801Gly p.V1801G ENST00000361445 NM_004958.3 1801 gTg/gGg 39/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11190804 11190804 + missense_variant Missense_Mutation SNP C T rs863225264 HEC59_ENDOMETRIUM ENST00000361445.4:c.5395G>A p.Glu1799Lys p.E1799K ENST00000361445 NM_004958.3 1799 Gaa/Aaa 39/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11190804 11190804 + missense_variant Missense_Mutation SNP C T rs863225264 HS683_CENTRAL_NERVOUS_SYSTEM ENST00000361445.4:c.5395G>A p.Glu1799Lys p.E1799K ENST00000361445 NM_004958.3 1799 Gaa/Aaa 39/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11190804 11190804 + missense_variant Missense_Mutation SNP C T rs863225264 SNU349_KIDNEY ENST00000361445.4:c.5395G>A p.Glu1799Lys p.E1799K ENST00000361445 NM_004958.3 1799 Gaa/Aaa 39/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11190885 11190885 + intron_variant Intron SNP G A SNU175_LARGE_INTESTINE ENST00000361445.4:c.5365-51C>T p.*1789* ENST00000361445 NM_004958.3 SUCCESS | |
| MTOR 2475 GRCh37 1 11190898 11190898 + intron_variant Intron SNP C T rs751050420 LN229_CENTRAL_NERVOUS_SYSTEM ENST00000361445.4:c.5365-64G>A p.*1789* ENST00000361445 NM_004958.3 SUCCESS | |
| MTOR 2475 GRCh37 1 11190934 11190934 + intron_variant Intron SNP G T HEC59_ENDOMETRIUM ENST00000361445.4:c.5365-100C>A p.*1789* ENST00000361445 NM_004958.3 SUCCESS | |
| MTOR 2475 GRCh37 1 11193208 11193208 + missense_variant Missense_Mutation SNP T C HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000361445.4:c.5293A>G p.Asn1765Asp p.N1765D ENST00000361445 NM_004958.3 1765 Aat/Gat 38/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11194408 11194408 + missense_variant,splice_region_variant Missense_Mutation SNP C T 22RV1_PROSTATE ENST00000361445.4:c.5246G>A p.Arg1749Gln p.R1749Q ENST00000361445 NM_004958.3 1749 cGa/cAa 37/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11194472 11194472 + missense_variant Missense_Mutation SNP C A NCIH650_LUNG ENST00000361445.4:c.5182G>T p.Ala1728Ser p.A1728S ENST00000361445 NM_004958.3 1728 Gcc/Tcc 37/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11199365 11199365 + missense_variant Missense_Mutation SNP C T rs587777895 KYSE410_OESOPHAGUS ENST00000361445.4:c.5126G>A p.Arg1709His p.R1709H ENST00000361445 NM_004958.3 1709 cGc/cAc 36/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11199408 11199408 + stop_gained Nonsense_Mutation SNP G A BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000361445.4:c.5083C>T p.Gln1695Ter p.Q1695* ENST00000361445 NM_004958.3 1695 Cag/Tag 36/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11199416 11199416 + missense_variant Missense_Mutation SNP A G rs758917930 BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000361445.4:c.5075T>C p.Val1692Ala p.V1692A ENST00000361445 NM_004958.3 1692 gTt/gCt 36/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11204742 11204742 + missense_variant Missense_Mutation SNP C T rs771517712 C32_SKIN ENST00000361445.4:c.4835G>A p.Arg1612Gln p.R1612Q ENST00000361445 NM_004958.3 1612 cGa/cAa 34/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11210272 11210272 + missense_variant Missense_Mutation SNP T C HEC265_ENDOMETRIUM ENST00000361445.4:c.4481A>G p.His1494Arg p.H1494R ENST00000361445 NM_004958.3 1494 cAc/cGc 31/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11210282 11210282 + missense_variant,splice_region_variant Missense_Mutation SNP C T EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000361445.4:c.4471G>A p.Gly1491Ser p.G1491S ENST00000361445 NM_004958.3 1491 Ggt/Agt 31/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11217230 11217230 + missense_variant Missense_Mutation SNP C T rs786205165 MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000361445.4:c.4448G>A p.Cys1483Tyr p.C1483Y ENST00000361445 NM_004958.3 1483 tGc/tAc 30/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11217234 11217234 + missense_variant Missense_Mutation SNP G A rs1031980569 MFE296_ENDOMETRIUM ENST00000361445.4:c.4444C>T p.Arg1482Cys p.R1482C ENST00000361445 NM_004958.3 1482 Cgc/Tgc 30/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11217312 11217312 + missense_variant Missense_Mutation SNP A T NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000361445.4:c.4366T>A p.Trp1456Arg p.W1456R ENST00000361445 NM_004958.3 1456 Tgg/Agg 30/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11227549 11227549 + missense_variant Missense_Mutation SNP C G MDAMB361_BREAST ENST00000361445.4:c.4279G>C p.Glu1427Gln p.E1427Q ENST00000361445 NM_004958.3 1427 Gag/Cag 29/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11259346 11259346 + missense_variant Missense_Mutation SNP G A rs1220273261 CW2_LARGE_INTESTINE ENST00000361445.4:c.4222C>T p.Pro1408Ser p.P1408S ENST00000361445 NM_004958.3 1408 Ccc/Tcc 28/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11259760 11259760 + missense_variant,splice_region_variant Missense_Mutation SNP C A NCIH1930_LUNG ENST00000361445.4:c.3945G>T p.Arg1315Ser p.R1315S ENST00000361445 NM_004958.3 1315 agG/agT 27/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11264652 11264652 + missense_variant Missense_Mutation SNP A G KMRC20_KIDNEY ENST00000361445.4:c.3910T>C p.Trp1304Arg p.W1304R ENST00000361445 NM_004958.3 1304 Tgg/Cgg 26/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11264735 11264735 + missense_variant Missense_Mutation SNP G A HEC265_ENDOMETRIUM ENST00000361445.4:c.3827C>T p.Ser1276Phe p.S1276F ENST00000361445 NM_004958.3 1276 tCc/tTc 26/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11269409 11269409 + missense_variant Missense_Mutation SNP G A KM12_LARGE_INTESTINE ENST00000361445.4:c.3761C>T p.Pro1254Leu p.P1254L ENST00000361445 NM_004958.3 1254 cCc/cTc 25/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11269410 11269410 + missense_variant Missense_Mutation SNP G T KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000361445.4:c.3760C>A p.Pro1254Thr p.P1254T ENST00000361445 NM_004958.3 1254 Ccc/Acc 25/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11269428 11269428 + stop_gained Nonsense_Mutation SNP C A HCC1171_LUNG ENST00000361445.4:c.3742G>T p.Gly1248Ter p.G1248* ENST00000361445 NM_004958.3 1248 Gga/Tga 25/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11270903 11270903 + missense_variant Missense_Mutation SNP G A rs200402195 HEC59_ENDOMETRIUM ENST00000361445.4:c.3622C>T p.Arg1208Cys p.R1208C ENST00000361445 NM_004958.3 1208 Cgc/Tgc 24/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11270903 11270903 + missense_variant Missense_Mutation SNP G A rs200402195 KALS1_CENTRAL_NERVOUS_SYSTEM ENST00000361445.4:c.3622C>T p.Arg1208Cys p.R1208C ENST00000361445 NM_004958.3 1208 Cgc/Tgc 24/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11270903 11270903 + missense_variant Missense_Mutation SNP G A rs200402195 KYSE510_OESOPHAGUS ENST00000361445.4:c.3622C>T p.Arg1208Cys p.R1208C ENST00000361445 NM_004958.3 1208 Cgc/Tgc 24/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11270923 11270923 + missense_variant Missense_Mutation SNP C T rs975845561 AN3CA_ENDOMETRIUM ENST00000361445.4:c.3602G>A p.Arg1201Gln p.R1201Q ENST00000361445 NM_004958.3 1201 cGa/cAa 24/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11270947 11270947 + missense_variant Missense_Mutation SNP G A COLO201_LARGE_INTESTINE ENST00000361445.4:c.3578C>T p.Pro1193Leu p.P1193L ENST00000361445 NM_004958.3 1193 cCa/cTa 24/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11272397 11272397 + missense_variant Missense_Mutation SNP G A rs55975118 J82_URINARY_TRACT ENST00000361445.4:c.3533C>T p.Ser1178Phe p.S1178F ENST00000361445 NM_004958.3 1178 tCt/tTt 23/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11272448 11272448 + missense_variant Missense_Mutation SNP C T rs777609766 DMS454_LUNG ENST00000361445.4:c.3482G>A p.Arg1161Gln p.R1161Q ENST00000361445 NM_004958.3 1161 cGa/cAa 23/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11272478 11272478 + missense_variant Missense_Mutation SNP T C rs151082401 C2BBE1_LARGE_INTESTINE ENST00000361445.4:c.3452A>G p.Tyr1151Cys p.Y1151C ENST00000361445 NM_004958.3 1151 tAt/tGt 23/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11272529 11272529 + missense_variant,splice_region_variant Missense_Mutation SNP G A rs28730685 ABC1_LUNG ENST00000361445.4:c.3401C>T p.Ala1134Val p.A1134V ENST00000361445 NM_004958.3 1134 gCa/gTa 23/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11273481 11273481 + missense_variant Missense_Mutation SNP C T SNU1040_LARGE_INTESTINE ENST00000361445.4:c.3260G>A p.Ser1087Asn p.S1087N ENST00000361445 NM_004958.3 1087 aGc/aAc 21/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11276225 11276225 + missense_variant Missense_Mutation SNP C T VMCUB1_URINARY_TRACT ENST00000361445.4:c.3097G>A p.Glu1033Lys p.E1033K ENST00000361445 NM_004958.3 1033 Gaa/Aaa 20/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11291425 11291425 + missense_variant Missense_Mutation SNP A G rs1023010218 EN_ENDOMETRIUM ENST00000361445.4:c.2581T>C p.Tyr861His p.Y861H ENST00000361445 NM_004958.3 861 Tac/Cac 17/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11292532 11292532 + missense_variant Missense_Mutation SNP C T KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000361445.4:c.2475G>A p.Met825Ile p.M825I ENST00000361445 NM_004958.3 825 atG/atA 16/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11292586 11292586 + splice_acceptor_variant Splice_Site SNP C A CORL23_LUNG ENST00000361445.4:c.2422-1G>T p.X808_splice ENST00000361445 NM_004958.3 808 SUCCESS | |
| MTOR 2475 GRCh37 1 11293469 11293469 + stop_gained Nonsense_Mutation SNP C A AN3CA_ENDOMETRIUM ENST00000361445.4:c.2407G>T p.Gly803Ter p.G803* ENST00000361445 NM_004958.3 803 Gga/Tga 15/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11294234 11294235 + frameshift_variant Frame_Shift_Ins INS - G rs746242022 MFE319_ENDOMETRIUM ENST00000361445.4:c.2296dup p.Arg766ProfsTer24 p.R766Pfs*24 ENST00000361445 NM_004958.3 766 cga/cCga 14/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11297998 11297998 + missense_variant Missense_Mutation SNP C T rs775657387 HEC6_ENDOMETRIUM ENST00000361445.4:c.2110G>A p.Val704Met p.V704M ENST00000361445 NM_004958.3 704 Gtg/Atg 13/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11298024 11298024 + missense_variant Missense_Mutation SNP G A HT115_LARGE_INTESTINE ENST00000361445.4:c.2084C>T p.Ala695Val p.A695V ENST00000361445 NM_004958.3 695 gCc/gTc 13/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11298035 11298035 + missense_variant Missense_Mutation SNP C A HCC1171_LUNG ENST00000361445.4:c.2073G>T p.Glu691Asp p.E691D ENST00000361445 NM_004958.3 691 gaG/gaT 13/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11298521 11298521 + missense_variant Missense_Mutation SNP G A OVK18_OVARY ENST00000361445.4:c.1940C>T p.Thr647Ile p.T647I ENST00000361445 NM_004958.3 647 aCc/aTc 12/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11298528 11298528 + missense_variant Missense_Mutation SNP T A NCIH1568_LUNG ENST00000361445.4:c.1933A>T p.Ser645Cys p.S645C ENST00000361445 NM_004958.3 645 Agc/Tgc 12/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11300383 11300383 + missense_variant Missense_Mutation SNP G A SNU175_LARGE_INTESTINE ENST00000361445.4:c.1763C>T p.Thr588Met p.T588M ENST00000361445 NM_004958.3 588 aCg/aTg 11/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11300429 11300429 + missense_variant Missense_Mutation SNP G A rs1447843966 KYM1_SOFT_TISSUE ENST00000361445.4:c.1717C>T p.Leu573Phe p.L573F ENST00000361445 NM_004958.3 573 Ctc/Ttc 11/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11300434 11300434 + missense_variant Missense_Mutation SNP G T MOLM13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000361445.4:c.1712C>A p.Thr571Lys p.T571K ENST00000361445 NM_004958.3 571 aCg/aAg 11/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11301687 11301687 + missense_variant Missense_Mutation SNP C T CW2_LARGE_INTESTINE ENST00000361445.4:c.1464G>A p.Met488Ile p.M488I ENST00000361445 NM_004958.3 488 atG/atA 10/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11303205 11303205 + stop_gained Nonsense_Mutation SNP G A HEC59_ENDOMETRIUM ENST00000361445.4:c.1378C>T p.Arg460Ter p.R460* ENST00000361445 NM_004958.3 460 Cga/Tga 9/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11303225 11303225 + missense_variant Missense_Mutation SNP G A COLO792_SKIN ENST00000361445.4:c.1358C>T p.Pro453Leu p.P453L ENST00000361445 NM_004958.3 453 cCt/cTt 9/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11303292 11303292 + missense_variant Missense_Mutation SNP T C rs1557475700 SNU1_STOMACH ENST00000361445.4:c.1291A>G p.Thr431Ala p.T431A ENST00000361445 NM_004958.3 431 Aca/Gca 9/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11303325 11303325 + missense_variant Missense_Mutation SNP C T 22RV1_PROSTATE ENST00000361445.4:c.1258G>A p.Val420Ile p.V420I ENST00000361445 NM_004958.3 420 Gtc/Atc 9/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11307967 11307967 + missense_variant Missense_Mutation SNP A G rs1015621268 CCK81_LARGE_INTESTINE ENST00000361445.4:c.1025T>C p.Leu342Pro p.L342P ENST00000361445 NM_004958.3 342 cTc/cCc 7/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11313912 11313912 + missense_variant Missense_Mutation SNP C G KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000361445.4:c.824G>C p.Ser275Thr p.S275T ENST00000361445 NM_004958.3 275 aGc/aCc 6/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11313951 11313951 + missense_variant Missense_Mutation SNP T C 2313287_STOMACH ENST00000361445.4:c.785A>G p.His262Arg p.H262R ENST00000361445 NM_004958.3 262 cAt/cGt 6/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11313955 11313955 + missense_variant Missense_Mutation SNP T C 2313287_STOMACH ENST00000361445.4:c.781A>G p.Ile261Val p.I261V ENST00000361445 NM_004958.3 261 Atc/Gtc 6/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11314008 11314008 + missense_variant Missense_Mutation SNP T C REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000361445.4:c.728A>G p.Lys243Arg p.K243R ENST00000361445 NM_004958.3 243 aAg/aGg 6/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11314027 11314027 + missense_variant Missense_Mutation SNP T C SNU410_PANCREAS ENST00000361445.4:c.709A>G p.Thr237Ala p.T237A ENST00000361445 NM_004958.3 237 Aca/Gca 6/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11317074 11317074 + missense_variant Missense_Mutation SNP A C NCIH2066_LUNG ENST00000361445.4:c.420T>G p.Phe140Leu p.F140L ENST00000361445 NM_004958.3 140 ttT/ttG 4/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11319346 11319346 + missense_variant Missense_Mutation SNP C G NCIH650_LUNG ENST00000361445.4:c.121G>C p.Ala41Pro p.A41P ENST00000361445 NM_004958.3 41 Gcc/Ccc 2/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11319346 11319346 + missense_variant Missense_Mutation SNP C T SKUT1_SOFT_TISSUE ENST00000361445.4:c.121G>A p.Ala41Thr p.A41T ENST00000361445 NM_004958.3 41 Gcc/Acc 2/58 SUCCESS | |
| MTOR 2475 GRCh37 1 11319476 11319476 + 5_prime_UTR_variant 5'UTR SNP A T KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000361445.4:c.-10T>A p.*4* ENST00000361445 NM_004958.3 2/58 SUCCESS | |
| TNFRSF8 943 GRCh37 1 12144597 12144597 + missense_variant Missense_Mutation SNP G A rs757905742 U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000263932.2:c.140G>A p.Arg47His p.R47H ENST00000263932 NM_001243.3 47 cGc/cAc 2/15 SUCCESS | |
| TNFRSF8 943 GRCh37 1 12164444 12164444 + missense_variant Missense_Mutation SNP G A rs141205943 PANC0813_PANCREAS ENST00000263932.2:c.277G>A p.Val93Met p.V93M ENST00000263932 NM_001243.3 93 Gtg/Atg 4/15 SUCCESS | |
| TNFRSF8 943 GRCh37 1 12164477 12164477 + missense_variant Missense_Mutation SNP C T rs1557589433 CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000263932.2:c.310C>T p.Arg104Cys p.R104C ENST00000263932 NM_001243.3 104 Cgt/Tgt 4/15 SUCCESS | |
| TNFRSF8 943 GRCh37 1 12164485 12164485 + synonymous_variant Silent SNP C T rs149306762 SNU1040_LARGE_INTESTINE ENST00000263932.2:c.318C>T p.Cys106= p.C106= ENST00000263932 NM_001243.3 106 tgC/tgT 4/15 SUCCESS | |
| TNFRSF8 943 GRCh37 1 12169679 12169679 + missense_variant Missense_Mutation SNP T C rs1396760631 MFE319_ENDOMETRIUM ENST00000263932.2:c.478T>C p.Cys160Arg p.C160R ENST00000263932 NM_001243.3 160 Tgt/Cgt 5/15 SUCCESS | |
| TNFRSF8 943 GRCh37 1 12169701 12169701 + missense_variant Missense_Mutation SNP A G rs1347758386 BT474_BREAST ENST00000263932.2:c.500A>G p.Lys167Arg p.K167R ENST00000263932 NM_001243.3 167 aAg/aGg 5/15 SUCCESS | |
| TNFRSF8 943 GRCh37 1 12170215 12170215 + missense_variant Missense_Mutation SNP G T IALM_LUNG ENST00000263932.2:c.630G>T p.Arg210Ser p.R210S ENST00000263932 NM_001243.3 210 agG/agT 6/15 SUCCESS | |
| TNFRSF8 943 GRCh37 1 12172050 12172050 + missense_variant Missense_Mutation SNP G C NCIH1651_LUNG ENST00000263932.2:c.772G>C p.Ala258Pro p.A258P ENST00000263932 NM_001243.3 258 Gcc/Ccc 7/15 SUCCESS | |
| TNFRSF8 943 GRCh37 1 12175733 12175733 + missense_variant Missense_Mutation SNP C T rs778171119 SNU1040_LARGE_INTESTINE ENST00000263932.2:c.893C>T p.Ala298Val p.A298V ENST00000263932 NM_001243.3 298 gCc/gTc 8/15 SUCCESS | |
| TNFRSF8 943 GRCh37 1 12175771 12175771 + missense_variant Missense_Mutation SNP G A DU145_PROSTATE ENST00000263932.2:c.931G>A p.Val311Ile p.V311I ENST00000263932 NM_001243.3 311 Gtc/Atc 8/15 SUCCESS | |
| TNFRSF8 943 GRCh37 1 12175780 12175780 + missense_variant Missense_Mutation SNP C T rs2275170 HS739T_BREAST ENST00000263932.2:c.940C>T p.Pro314Ser p.P314S ENST00000263932 NM_001243.3 314 Ccc/Tcc 8/15 SUCCESS | |
| TNFRSF8 943 GRCh37 1 12186071 12186071 + missense_variant Missense_Mutation SNP T C SW48_LARGE_INTESTINE ENST00000263932.2:c.1217T>C p.Leu406Pro p.L406P ENST00000263932 NM_001243.3 406 cTg/cCg 11/15 SUCCESS | |
| TNFRSF8 943 GRCh37 1 12186086 12186086 + missense_variant Missense_Mutation SNP C A NCIH2110_LUNG ENST00000263932.2:c.1232C>A p.Ala411Asp p.A411D ENST00000263932 NM_001243.3 411 gCc/gAc 11/15 SUCCESS | |
| TNFRSF8 943 GRCh37 1 12186091 12186091 + synonymous_variant Silent SNP A C A704_KIDNEY ENST00000263932.2:c.1237A>C p.Arg413= p.R413= ENST00000263932 NM_001243.3 413 Agg/Cgg 11/15 SUCCESS | |
| TNFRSF8 943 GRCh37 1 12186280 12186280 + synonymous_variant Silent SNP G A rs145777016 RKO_LARGE_INTESTINE ENST00000263932.2:c.1296G>A p.Lys432= p.K432= ENST00000263932 NM_001243.3 432 aaG/aaA 12/15 SUCCESS | |
| TNFRSF8 943 GRCh37 1 12198286 12198286 + stop_gained,splice_region_variant Nonsense_Mutation SNP C T HEC59_ENDOMETRIUM ENST00000263932.2:c.1336C>T p.Gln446Ter p.Q446* ENST00000263932 NM_001243.3 446 Cag/Tag 14/15 SUCCESS | |
| TNFRSF8 943 GRCh37 1 12198477 12198477 + missense_variant Missense_Mutation SNP C G KYSE140_OESOPHAGUS ENST00000263932.2:c.1527C>G p.His509Gln p.H509Q ENST00000263932 NM_001243.3 509 caC/caG 14/15 SUCCESS | |
| TNFRSF8 943 GRCh37 1 12202520 12202520 + missense_variant Missense_Mutation SNP G A rs763799581 MEWO_SKIN ENST00000263932.2:c.1720G>A p.Asp574Asn p.D574N ENST00000263932 NM_001243.3 574 Gat/Aat 15/15 SUCCESS | |
| TNFRSF1B 7133 GRCh37 1 12248904 12248904 + stop_gained Nonsense_Mutation SNP G T HEC251_ENDOMETRIUM ENST00000376259.3:c.130G>T p.Glu44Ter p.E44* ENST00000376259 NM_001066.2 44 Gaa/Taa 2/10 SUCCESS | |
| TNFRSF1B 7133 GRCh37 1 12248904 12248904 + stop_gained Nonsense_Mutation SNP G T SNU81_LARGE_INTESTINE ENST00000376259.3:c.130G>T p.Glu44Ter p.E44* ENST00000376259 NM_001066.2 44 Gaa/Taa 2/10 SUCCESS | |
| TNFRSF1B 7133 GRCh37 1 12251090 12251090 + missense_variant Missense_Mutation SNP G T HEC1A_ENDOMETRIUM ENST00000376259.3:c.255G>T p.Gln85His p.Q85H ENST00000376259 NM_001066.2 85 caG/caT 3/10 SUCCESS | |
| TNFRSF1B 7133 GRCh37 1 12251090 12251090 + missense_variant Missense_Mutation SNP G T HEC1B_ENDOMETRIUM ENST00000376259.3:c.255G>T p.Gln85His p.Q85H ENST00000376259 NM_001066.2 85 caG/caT 3/10 SUCCESS | |
| TNFRSF1B 7133 GRCh37 1 12251852 12251852 + missense_variant Missense_Mutation SNP G T HCC33_LUNG ENST00000376259.3:c.329G>T p.Cys110Phe p.C110F ENST00000376259 NM_001066.2 110 tGc/tTc 4/10 SUCCESS | |
| TNFRSF1B 7133 GRCh37 1 12251854 12251854 + missense_variant Missense_Mutation SNP A T HCC33_LUNG ENST00000376259.3:c.331A>T p.Thr111Ser p.T111S ENST00000376259 NM_001066.2 111 Act/Tct 4/10 SUCCESS | |
| TNFRSF1B 7133 GRCh37 1 12251868 12251868 + missense_variant Missense_Mutation SNP C A A704_KIDNEY ENST00000376259.3:c.345C>A p.Asn115Lys p.N115K ENST00000376259 NM_001066.2 115 aaC/aaA 4/10 SUCCESS | |
| TNFRSF1B 7133 GRCh37 1 12251919 12251919 + synonymous_variant Silent SNP G A KMBC2_URINARY_TRACT ENST00000376259.3:c.396G>A p.Glu132= p.E132= ENST00000376259 NM_001066.2 132 gaG/gaA 4/10 SUCCESS | |
| TNFRSF1B 7133 GRCh37 1 12251919 12251919 + synonymous_variant Silent SNP G A TEN_ENDOMETRIUM ENST00000376259.3:c.396G>A p.Glu132= p.E132= ENST00000376259 NM_001066.2 132 gaG/gaA 4/10 SUCCESS | |
| TNFRSF1B 7133 GRCh37 1 12251943 12251943 + synonymous_variant Silent SNP G C MDAMB231_BREAST ENST00000376259.3:c.420G>C p.Leu140= p.L140= ENST00000376259 NM_001066.2 140 ctG/ctC 4/10 SUCCESS | |
| TNFRSF1B 7133 GRCh37 1 12252488 12252488 + missense_variant,splice_region_variant Missense_Mutation SNP G A MFE319_ENDOMETRIUM ENST00000376259.3:c.458G>A p.Gly153Glu p.G153E ENST00000376259 NM_001066.2 153 gGa/gAa 5/10 SUCCESS | |
| TNFRSF1B 7133 GRCh37 1 12253041 12253041 + missense_variant Missense_Mutation SNP C A AN3CA_ENDOMETRIUM ENST00000376259.3:c.673C>A p.Gln225Lys p.Q225K ENST00000376259 NM_001066.2 225 Caa/Aaa 6/10 SUCCESS | |
| TNFRSF1B 7133 GRCh37 1 12253138 12253138 + missense_variant Missense_Mutation SNP A C RERFLCAD1_LUNG ENST00000376259.3:c.770A>C p.Asp257Ala p.D257A ENST00000376259 NM_001066.2 257 gAc/gCc 6/10 SUCCESS | |
| TNFRSF1B 7133 GRCh37 1 12254075 12254075 + missense_variant Missense_Mutation SNP T C rs1211019270 639V_URINARY_TRACT ENST00000376259.3:c.851T>C p.Met284Thr p.M284T ENST00000376259 NM_001066.2 284 aTg/aCg 7/10 SUCCESS | |
| TNFRSF1B 7133 GRCh37 1 12262025 12262025 + missense_variant,splice_region_variant Missense_Mutation SNP C G rs17883432 HCC827_LUNG ENST00000376259.3:c.902C>G p.Pro301Arg p.P301R ENST00000376259 NM_001066.2 301 cCt/cGt 9/10 SUCCESS | |
| TNFRSF1B 7133 GRCh37 1 12262048 12262048 + missense_variant Missense_Mutation SNP C G rs534114957 YAPC_PANCREAS ENST00000376259.3:c.925C>G p.Arg309Gly p.R309G ENST00000376259 NM_001066.2 309 Cgg/Ggg 9/10 SUCCESS | |
| TNFRSF1B 7133 GRCh37 1 12262073 12262073 + missense_variant Missense_Mutation SNP A C HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000376259.3:c.950A>C p.Gln317Pro p.Q317P ENST00000376259 NM_001066.2 317 cAg/cCg 9/10 SUCCESS | |
| TNFRSF1B 7133 GRCh37 1 12262157 12262157 + missense_variant Missense_Mutation SNP G A rs377693214 MKN7_STOMACH ENST00000376259.3:c.1034G>A p.Arg345Gln p.R345Q ENST00000376259 NM_001066.2 345 cGg/cAg 9/10 SUCCESS | |
| TNFRSF1B 7133 GRCh37 1 12262193 12262193 + missense_variant Missense_Mutation SNP G T NCIH1793_LUNG ENST00000376259.3:c.1070G>T p.Gly357Val p.G357V ENST00000376259 NM_001066.2 357 gGg/gTg 9/10 SUCCESS | |
| TNFRSF1B 7133 GRCh37 1 12266800 12266800 + missense_variant Missense_Mutation SNP C T rs75299314 HCC2218_BREAST ENST00000376259.3:c.1109C>T p.Ser370Phe p.S370F ENST00000376259 NM_001066.2 370 tCt/tTt 10/10 SUCCESS | |
| TNFRSF1B 7133 GRCh37 1 12266844 12266844 + missense_variant Missense_Mutation SNP G A rs1172147581 HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000376259.3:c.1153G>A p.Val385Met p.V385M ENST00000376259 NM_001066.2 385 Gtg/Atg 10/10 SUCCESS | |
| TNFRSF1B 7133 GRCh37 1 12266850 12266850 + missense_variant Missense_Mutation SNP G A DV90_LUNG ENST00000376259.3:c.1159G>A p.Val387Ile p.V387I ENST00000376259 NM_001066.2 387 Gtc/Atc 10/10 SUCCESS | |
| TNFRSF1B 7133 GRCh37 1 12266955 12266955 + missense_variant Missense_Mutation SNP C T rs1210066424 MEC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000376259.3:c.1264C>T p.Pro422Ser p.P422S ENST00000376259 NM_001066.2 422 Ccc/Tcc 10/10 SUCCESS | |
| TNFRSF1B 7133 GRCh37 1 12267028 12267029 + missense_variant Missense_Mutation DNP AG TT HT55_LARGE_INTESTINE ENST00000376259.3:c.1337_1338delinsTT p.Glu446Val p.E446V ENST00000376259 NM_001066.2 446 gAG/gTT 10/10 SUCCESS | |
| TNFRSF1B 7133 GRCh37 1 12267182 12267182 + 3_prime_UTR_variant 3'UTR SNP A G rs1639523221 OVK18_OVARY ENST00000376259.3:c.*105A>G ENST00000376259 NM_001066.2 10/10 SUCCESS | |
| TNFRSF1B 7133 GRCh37 1 12267184 12267184 + 3_prime_UTR_variant 3'UTR SNP G C rs1042284268 SKMEL28_SKIN ENST00000376259.3:c.*107G>C ENST00000376259 NM_001066.2 10/10 SUCCESS | |
| CASP9 842 GRCh37 1 15819294 15819294 + 3_prime_UTR_variant 3'UTR SNP T C rs144880063 NCIH2342_LUNG ENST00000333868.5:c.*144A>G ENST00000333868 9/9 SUCCESS | |
| CASP9 842 GRCh37 1 15819385 15819385 + 3_prime_UTR_variant 3'UTR SNP T C LS411N_LARGE_INTESTINE ENST00000333868.5:c.*53A>G ENST00000333868 9/9 SUCCESS | |
| CASP9 842 GRCh37 1 15819385 15819385 + 3_prime_UTR_variant 3'UTR SNP T C SNU1_STOMACH ENST00000333868.5:c.*53A>G ENST00000333868 9/9 SUCCESS | |
| CASP9 842 GRCh37 1 15819435 15819435 + 3_prime_UTR_variant 3'UTR SNP G A rs369782680 NCIH1930_LUNG ENST00000333868.5:c.*3C>T ENST00000333868 9/9 SUCCESS | |
| CASP9 842 GRCh37 1 15819467 15819467 + missense_variant Missense_Mutation SNP G A rs368949486 HEC108_ENDOMETRIUM ENST00000333868.5:c.1222C>T p.Arg408Trp p.R408W ENST00000333868 408 Cgg/Tgg 9/9 SUCCESS | |
| CASP9 842 GRCh37 1 15819484 15819484 + missense_variant Missense_Mutation SNP C G HEL9217_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000333868.5:c.1205G>C p.Gly402Ala p.G402A ENST00000333868 402 gGt/gCt 9/9 SUCCESS | |
| CASP9 842 GRCh37 1 15819484 15819484 + missense_variant Missense_Mutation SNP C G HEL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000333868.5:c.1205G>C p.Gly402Ala p.G402A ENST00000333868 402 gGt/gCt 9/9 SUCCESS | |
| CASP9 842 GRCh37 1 15819528 15819528 + splice_region_variant,synonymous_variant Splice_Region SNP G A rs142340656 SNU1040_LARGE_INTESTINE ENST00000333868.5:c.1161C>T p.X387_splice ENST00000333868 387 gtC/gtT 9/9 SUCCESS | |
| CASP9 842 GRCh37 1 15819541 15819542 + splice_polypyrimidine_tract_variant,intron_variant Splice_Region INS - C rs574391543 NCIH1339_LUNG ENST00000333868.5:c.1159-12_1159-11insG p.*387* ENST00000333868 SUCCESS | |
| CASP9 842 GRCh37 1 15819601 15819602 + intron_variant Intron INS - G rs1708953232 SKUT1_SOFT_TISSUE ENST00000333868.5:c.1159-72_1159-71insC p.*387* ENST00000333868 SUCCESS | |
| CASP9 842 GRCh37 1 15819620 15819620 + intron_variant Intron SNP A G RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000333868.5:c.1159-90T>C p.*387* ENST00000333868 SUCCESS | |
| CASP9 842 GRCh37 1 15819626 15819626 + intron_variant Intron SNP A T NCIH2170_LUNG ENST00000333868.5:c.1159-96T>A p.*387* ENST00000333868 SUCCESS | |
| CASP9 842 GRCh37 1 15819666 15819666 + intron_variant Intron SNP G A rs541817339 JHH6_LIVER ENST00000333868.5:c.1159-136C>T p.*387* ENST00000333868 SUCCESS | |
| CASP9 842 GRCh37 1 15820307 15820308 + intron_variant Intron INS - C rs2234723 SBC5_LUNG ENST00000333868.5:c.1158+79_1158+80insG p.*386* ENST00000333868 SUCCESS | |
| CASP9 842 GRCh37 1 15821767 15821767 + splice_donor_variant Splice_Site SNP C T MEWO_SKIN ENST00000333868.5:c.1048+1G>A p.X350_splice ENST00000333868 350 SUCCESS | |
| CASP9 842 GRCh37 1 15821792 15821792 + missense_variant Missense_Mutation SNP A C HEC251_ENDOMETRIUM ENST00000333868.5:c.1024T>G p.Phe342Val p.F342V ENST00000333868 342 Ttt/Gtt 7/9 SUCCESS | |
| CASP9 842 GRCh37 1 15821828 15821828 + missense_variant Missense_Mutation SNP C T WM793_SKIN ENST00000333868.5:c.988G>A p.Asp330Asn p.D330N ENST00000333868 330 Gac/Aac 7/9 SUCCESS | |
| CASP9 842 GRCh37 1 15821887 15821887 + missense_variant Missense_Mutation SNP C A NCIH650_LUNG ENST00000333868.5:c.929G>T p.Ser310Ile p.S310I ENST00000333868 310 aGt/aTt 7/9 SUCCESS | |
| CASP9 842 GRCh37 1 15833611 15833611 + intron_variant Intron SNP C T rs747175896 NCIH2029_LUNG ENST00000333868.5:c.454-41G>A p.*152* ENST00000333868 SUCCESS | |
| CASP9 842 GRCh37 1 15833611 15833611 + intron_variant Intron SNP C T rs747175896 SNUC5_LARGE_INTESTINE ENST00000333868.5:c.454-41G>A p.*152* ENST00000333868 SUCCESS | |
| CASP9 842 GRCh37 1 15834381 15834381 + missense_variant Missense_Mutation SNP C T AN3CA_ENDOMETRIUM ENST00000333868.5:c.440G>A p.Gly147Glu p.G147E ENST00000333868 147 gGa/gAa 3/9 SUCCESS | |
| 1 15834394 15834394 C C HS766T_PANCREAS FAILED | |
| CASP9 842 GRCh37 1 15844740 15844740 + missense_variant Missense_Mutation SNP C T MFE319_ENDOMETRIUM ENST00000333868.5:c.283G>A p.Ala95Thr p.A95T ENST00000333868 95 Gca/Aca 2/9 SUCCESS | |
| CASP9 842 GRCh37 1 15844776 15844776 + missense_variant Missense_Mutation SNP C A SNU886_LIVER ENST00000333868.5:c.247G>T p.Asp83Tyr p.D83Y ENST00000333868 83 Gac/Tac 2/9 SUCCESS | |
| CASP9 842 GRCh37 1 15844888 15844888 + splice_region_variant,synonymous_variant Splice_Region SNP C G NCIH1915_LUNG ENST00000333868.5:c.135G>C p.X45_splice ENST00000333868 45 cgG/cgC 2/9 SUCCESS | |
| SPEN 23013 GRCh37 1 16199472 16199472 + missense_variant Missense_Mutation SNP G A CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000375759.3:c.245G>A p.Gly82Asp p.G82D ENST00000375759 NM_015001.2 82 gGc/gAc 2/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16199499 16199499 + missense_variant Missense_Mutation SNP T C FTC238_THYROID ENST00000375759.3:c.272T>C p.Leu91Ser p.L91S ENST00000375759 NM_015001.2 91 tTg/tCg 2/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16199618 16199618 + missense_variant Missense_Mutation SNP C T rs953954789 SNU1040_LARGE_INTESTINE ENST00000375759.3:c.391C>T p.Arg131Trp p.R131W ENST00000375759 NM_015001.2 131 Cgg/Tgg 2/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16202774 16202774 + missense_variant Missense_Mutation SNP G A SNU175_LARGE_INTESTINE ENST00000375759.3:c.482G>A p.Arg161Gln p.R161Q ENST00000375759 NM_015001.2 161 cGg/cAg 3/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16202858 16202858 + missense_variant Missense_Mutation SNP G A rs746614090 SNU81_LARGE_INTESTINE ENST00000375759.3:c.566G>A p.Arg189Gln p.R189Q ENST00000375759 NM_015001.2 189 cGa/cAa 3/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16202881 16202881 + missense_variant Missense_Mutation SNP C T NCIH2087_LUNG ENST00000375759.3:c.589C>T p.His197Tyr p.H197Y ENST00000375759 NM_015001.2 197 Cat/Tat 3/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16202887 16202887 + missense_variant Missense_Mutation SNP C T SW1573_LUNG ENST00000375759.3:c.595C>T p.Pro199Ser p.P199S ENST00000375759 NM_015001.2 199 Ccc/Tcc 3/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16202909 16202909 + missense_variant Missense_Mutation SNP G T LXF289_LUNG ENST00000375759.3:c.617G>T p.Arg206Leu p.R206L ENST00000375759 NM_015001.2 206 cGc/cTc 3/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16202963 16202963 + missense_variant Missense_Mutation SNP T C rs764161970 DETROIT562_UPPER_AERODIGESTIVE_TRACT ENST00000375759.3:c.671T>C p.Ile224Thr p.I224T ENST00000375759 NM_015001.2 224 aTt/aCt 3/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16203020 16203020 + missense_variant Missense_Mutation SNP G A rs776842790 NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000375759.3:c.728G>A p.Arg243Gln p.R243Q ENST00000375759 NM_015001.2 243 cGg/cAg 3/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16203032 16203032 + missense_variant Missense_Mutation SNP C T PK45H_PANCREAS ENST00000375759.3:c.740C>T p.Ser247Leu p.S247L ENST00000375759 NM_015001.2 247 tCa/tTa 3/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16203155 16203155 + missense_variant Missense_Mutation SNP G A RL952_ENDOMETRIUM ENST00000375759.3:c.863G>A p.Ser288Asn p.S288N ENST00000375759 NM_015001.2 288 aGt/aAt 3/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16235913 16235914 + frameshift_variant Frame_Shift_Ins INS - A T47D_BREAST ENST00000375759.3:c.984dup p.Asp329ArgfsTer2 p.D329Rfs*2 ENST00000375759 NM_015001.2 327 gaa/gAaa 4/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16237699 16237699 + missense_variant Missense_Mutation SNP C A SNU81_LARGE_INTESTINE ENST00000375759.3:c.1146C>A p.Phe382Leu p.F382L ENST00000375759 NM_015001.2 382 ttC/ttA 5/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16242646 16242646 + missense_variant Missense_Mutation SNP C T MDAMB435S_SKIN ENST00000375759.3:c.1267C>T p.Arg423Cys p.R423C ENST00000375759 NM_015001.2 423 Cgc/Tgc 6/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16242667 16242667 + missense_variant Missense_Mutation SNP G C SKM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000375759.3:c.1288G>C p.Asp430His p.D430H ENST00000375759 NM_015001.2 430 Gat/Cat 6/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16242722 16242722 + missense_variant Missense_Mutation SNP C A EN_ENDOMETRIUM ENST00000375759.3:c.1343C>A p.Thr448Asn p.T448N ENST00000375759 NM_015001.2 448 aCc/aAc 6/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16242735 16242735 + missense_variant Missense_Mutation SNP T A CAKI2_KIDNEY ENST00000375759.3:c.1356T>A p.His452Gln p.H452Q ENST00000375759 NM_015001.2 452 caT/caA 6/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16245969 16245969 + missense_variant Missense_Mutation SNP A G rs1249864060 MFE319_ENDOMETRIUM ENST00000375759.3:c.1592A>G p.Gln531Arg p.Q531R ENST00000375759 NM_015001.2 531 cAg/cGg 8/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16247364 16247364 + splice_acceptor_variant Splice_Site SNP G A TEN_ENDOMETRIUM ENST00000375759.3:c.1636-1G>A p.X546_splice ENST00000375759 NM_015001.2 546 SUCCESS | |
| SPEN 23013 GRCh37 1 16248804 16248804 + missense_variant Missense_Mutation SNP C A LS180_LARGE_INTESTINE ENST00000375759.3:c.1810C>A p.Gln604Lys p.Q604K ENST00000375759 NM_015001.2 604 Caa/Aaa 10/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16254645 16254645 + missense_variant Missense_Mutation SNP G T HEC251_ENDOMETRIUM ENST00000375759.3:c.1910G>T p.Arg637Leu p.R637L ENST00000375759 NM_015001.2 637 cGa/cTa 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16254687 16254687 + missense_variant Missense_Mutation SNP C T A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000375759.3:c.1952C>T p.Pro651Leu p.P651L ENST00000375759 NM_015001.2 651 cCa/cTa 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16254720 16254720 + missense_variant Missense_Mutation SNP A G rs762224428 SUPT11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000375759.3:c.1985A>G p.Glu662Gly p.E662G ENST00000375759 NM_015001.2 662 gAa/gGa 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16254885 16254885 + missense_variant Missense_Mutation SNP A G IALM_LUNG ENST00000375759.3:c.2150A>G p.His717Arg p.H717R ENST00000375759 NM_015001.2 717 cAt/cGt 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16254989 16254989 + missense_variant Missense_Mutation SNP G C KYSE270_OESOPHAGUS ENST00000375759.3:c.2254G>C p.Glu752Gln p.E752Q ENST00000375759 NM_015001.2 752 Gag/Cag 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16255141 16255142 + frameshift_variant Frame_Shift_Ins INS - GA HEC6_ENDOMETRIUM ENST00000375759.3:c.2417_2418dup p.Arg807AspfsTer3 p.R807Dfs*3 ENST00000375759 NM_015001.2 802 -/GA 11/15 SUCCESS | |
| 1 16255142 16255143 GA GA KM12_LARGE_INTESTINE FAILED | |
| SPEN 23013 GRCh37 1 16255220 16255220 + missense_variant Missense_Mutation SNP C T rs1482043812 KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000375759.3:c.2485C>T p.His829Tyr p.H829Y ENST00000375759 NM_015001.2 829 Cac/Tac 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16255455 16255455 + missense_variant Missense_Mutation SNP C T rs1404197854 NCIH2087_LUNG ENST00000375759.3:c.2720C>T p.Thr907Ile p.T907I ENST00000375759 NM_015001.2 907 aCt/aTt 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16255546 16255546 + missense_variant Missense_Mutation SNP G C OV90_OVARY ENST00000375759.3:c.2811G>C p.Met937Ile p.M937I ENST00000375759 NM_015001.2 937 atG/atC 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16255604 16255604 + missense_variant Missense_Mutation SNP A G MFE319_ENDOMETRIUM ENST00000375759.3:c.2869A>G p.Arg957Gly p.R957G ENST00000375759 NM_015001.2 957 Agg/Ggg 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16255620 16255620 + missense_variant Missense_Mutation SNP A C rs776255123 KNS42_CENTRAL_NERVOUS_SYSTEM ENST00000375759.3:c.2885A>C p.Lys962Thr p.K962T ENST00000375759 NM_015001.2 962 aAg/aCg 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16255805 16255805 + missense_variant Missense_Mutation SNP T G rs1267251712 CL11_LARGE_INTESTINE ENST00000375759.3:c.3070T>G p.Ser1024Ala p.S1024A ENST00000375759 NM_015001.2 1024 Tct/Gct 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16255817 16255817 + missense_variant Missense_Mutation SNP A C LU65_LUNG ENST00000375759.3:c.3082A>C p.Ile1028Leu p.I1028L ENST00000375759 NM_015001.2 1028 Att/Ctt 11/15 SUCCESS | |
| 1 16255883 16255883 A A DV90_LUNG FAILED | |
| SPEN 23013 GRCh37 1 16255925 16255925 + missense_variant Missense_Mutation SNP A G rs757017188 RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000375759.3:c.3190A>G p.Lys1064Glu p.K1064E ENST00000375759 NM_015001.2 1064 Aaa/Gaa 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16255949 16255949 + missense_variant Missense_Mutation SNP A T KMBC2_URINARY_TRACT ENST00000375759.3:c.3214A>T p.Ile1072Phe p.I1072F ENST00000375759 NM_015001.2 1072 Att/Ttt 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16255962 16255962 + missense_variant Missense_Mutation SNP C T KMBC2_URINARY_TRACT ENST00000375759.3:c.3227C>T p.Ser1076Phe p.S1076F ENST00000375759 NM_015001.2 1076 tCt/tTt 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16255968 16255968 + stop_gained Nonsense_Mutation SNP C G KMBC2_URINARY_TRACT ENST00000375759.3:c.3233C>G p.Ser1078Ter p.S1078* ENST00000375759 NM_015001.2 1078 tCa/tGa 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16255972 16255972 + missense_variant Missense_Mutation SNP G T LK2_LUNG ENST00000375759.3:c.3237G>T p.Arg1079Ser p.R1079S ENST00000375759 NM_015001.2 1079 agG/agT 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16256076 16256076 + missense_variant Missense_Mutation SNP A G rs1396048758 KYSE140_OESOPHAGUS ENST00000375759.3:c.3341A>G p.Lys1114Arg p.K1114R ENST00000375759 NM_015001.2 1114 aAa/aGa 11/15 SUCCESS | |
| 1 16256165 16256165 A A RCC10RGB_KIDNEY FAILED | |
| SPEN 23013 GRCh37 1 16256318 16256318 + missense_variant Missense_Mutation SNP C T JHUEM1_ENDOMETRIUM ENST00000375759.3:c.3583C>T p.Pro1195Ser p.P1195S ENST00000375759 NM_015001.2 1195 Cct/Tct 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16256358 16256358 + missense_variant Missense_Mutation SNP T G SAOS2_BONE ENST00000375759.3:c.3623T>G p.Val1208Gly p.V1208G ENST00000375759 NM_015001.2 1208 gTt/gGt 11/15 SUCCESS | |
| 1 16256372 16256372 A A HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| SPEN 23013 GRCh37 1 16256381 16256381 + missense_variant Missense_Mutation SNP C G rs1293275429 KMBC2_URINARY_TRACT ENST00000375759.3:c.3646C>G p.Gln1216Glu p.Q1216E ENST00000375759 NM_015001.2 1216 Caa/Gaa 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16256435 16256435 + missense_variant Missense_Mutation SNP G A rs199763346 CW2_LARGE_INTESTINE ENST00000375759.3:c.3700G>A p.Asp1234Asn p.D1234N ENST00000375759 NM_015001.2 1234 Gat/Aat 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16256484 16256484 + missense_variant Missense_Mutation SNP A G HEC59_ENDOMETRIUM ENST00000375759.3:c.3749A>G p.Gln1250Arg p.Q1250R ENST00000375759 NM_015001.2 1250 cAa/cGa 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16256507 16256507 + missense_variant Missense_Mutation SNP A T rs763700786 ALLSIL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000375759.3:c.3772A>T p.Thr1258Ser p.T1258S ENST00000375759 NM_015001.2 1258 Act/Tct 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16256510 16256510 + missense_variant Missense_Mutation SNP G T NCIH1930_LUNG ENST00000375759.3:c.3775G>T p.Gly1259Cys p.G1259C ENST00000375759 NM_015001.2 1259 Ggt/Tgt 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16256547 16256547 + missense_variant Missense_Mutation SNP A C rs201196356 NCIH1666_LUNG ENST00000375759.3:c.3812A>C p.Glu1271Ala p.E1271A ENST00000375759 NM_015001.2 1271 gAa/gCa 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16256547 16256547 + missense_variant Missense_Mutation SNP A C rs201196356 NCIH522_LUNG ENST00000375759.3:c.3812A>C p.Glu1271Ala p.E1271A ENST00000375759 NM_015001.2 1271 gAa/gCa 11/15 SUCCESS | |
| 1 16256610 16256610 A A SNGM_ENDOMETRIUM FAILED | |
| SPEN 23013 GRCh37 1 16256643 16256643 + missense_variant Missense_Mutation SNP G T NCIH69_LUNG ENST00000375759.3:c.3908G>T p.Arg1303Met p.R1303M ENST00000375759 NM_015001.2 1303 aGg/aTg 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16256666 16256666 + missense_variant Missense_Mutation SNP C T SKMEL30_SKIN ENST00000375759.3:c.3931C>T p.Pro1311Ser p.P1311S ENST00000375759 NM_015001.2 1311 Cct/Tct 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16256691 16256691 + missense_variant Missense_Mutation SNP A C rs376668606 CHAGOK1_LUNG ENST00000375759.3:c.3956A>C p.Gln1319Pro p.Q1319P ENST00000375759 NM_015001.2 1319 cAg/cCg 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16256762 16256762 + missense_variant Missense_Mutation SNP C G KMBC2_URINARY_TRACT ENST00000375759.3:c.4027C>G p.Gln1343Glu p.Q1343E ENST00000375759 NM_015001.2 1343 Cag/Gag 11/15 SUCCESS | |
| 1 16256833 16256833 A A CW2_LARGE_INTESTINE FAILED | |
| SPEN 23013 GRCh37 1 16256981 16256981 + missense_variant Missense_Mutation SNP C T rs762271842 NUGC3_STOMACH ENST00000375759.3:c.4246C>T p.Arg1416Cys p.R1416C ENST00000375759 NM_015001.2 1416 Cgt/Tgt 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16256991 16256991 + missense_variant Missense_Mutation SNP A G rs1173469705 RT4_URINARY_TRACT ENST00000375759.3:c.4256A>G p.Asp1419Gly p.D1419G ENST00000375759 NM_015001.2 1419 gAt/gGt 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16257023 16257023 + stop_gained Nonsense_Mutation SNP A T HEC108_ENDOMETRIUM ENST00000375759.3:c.4288A>T p.Lys1430Ter p.K1430* ENST00000375759 NM_015001.2 1430 Aaa/Taa 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16257033 16257033 + missense_variant Missense_Mutation SNP C A HT115_LARGE_INTESTINE ENST00000375759.3:c.4298C>A p.Ser1433Tyr p.S1433Y ENST00000375759 NM_015001.2 1433 tCt/tAt 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16257045 16257045 + missense_variant Missense_Mutation SNP A G rs1217915868 RAJI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000375759.3:c.4310A>G p.Asp1437Gly p.D1437G ENST00000375759 NM_015001.2 1437 gAt/gGt 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16257158 16257158 + stop_gained Nonsense_Mutation SNP C T LC1F_LUNG ENST00000375759.3:c.4423C>T p.Arg1475Ter p.R1475* ENST00000375759 NM_015001.2 1475 Cga/Tga 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16257179 16257179 + stop_gained Nonsense_Mutation SNP A T OCILY3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000375759.3:c.4444A>T p.Lys1482Ter p.K1482* ENST00000375759 NM_015001.2 1482 Aag/Tag 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16257198 16257198 + missense_variant Missense_Mutation SNP G T HCC1187_BREAST ENST00000375759.3:c.4463G>T p.Arg1488Ile p.R1488I ENST00000375759 NM_015001.2 1488 aGa/aTa 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16257228 16257228 + missense_variant Missense_Mutation SNP A G HEC59_ENDOMETRIUM ENST00000375759.3:c.4493A>G p.Lys1498Arg p.K1498R ENST00000375759 NM_015001.2 1498 aAg/aGg 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16257321 16257322 + frameshift_variant Frame_Shift_Ins INS - T CW2_LARGE_INTESTINE ENST00000375759.3:c.4592dup p.Leu1531PhefsTer7 p.L1531Ffs*7 ENST00000375759 NM_015001.2 1529 cgt/cgTt 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16257533 16257533 + stop_gained Nonsense_Mutation SNP A T OCIAML2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000375759.3:c.4798A>T p.Lys1600Ter p.K1600* ENST00000375759 NM_015001.2 1600 Aaa/Taa 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16257536 16257536 + missense_variant Missense_Mutation SNP G C COLO680N_OESOPHAGUS ENST00000375759.3:c.4801G>C p.Asp1601His p.D1601H ENST00000375759 NM_015001.2 1601 Gac/Cac 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16258130 16258130 + missense_variant Missense_Mutation SNP C T rs1331883564 MFE319_ENDOMETRIUM ENST00000375759.3:c.5395C>T p.Pro1799Ser p.P1799S ENST00000375759 NM_015001.2 1799 Ccc/Tcc 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16258269 16258269 + missense_variant Missense_Mutation SNP A G EN_ENDOMETRIUM ENST00000375759.3:c.5534A>G p.Glu1845Gly p.E1845G ENST00000375759 NM_015001.2 1845 gAg/gGg 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16258310 16258310 + missense_variant Missense_Mutation SNP C T rs542606165 KP3_PANCREAS ENST00000375759.3:c.5575C>T p.Arg1859Trp p.R1859W ENST00000375759 NM_015001.2 1859 Cgg/Tgg 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16258310 16258310 + missense_variant Missense_Mutation SNP C T rs542606165 SNU175_LARGE_INTESTINE ENST00000375759.3:c.5575C>T p.Arg1859Trp p.R1859W ENST00000375759 NM_015001.2 1859 Cgg/Tgg 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16258329 16258329 + missense_variant Missense_Mutation SNP T G ES2_OVARY ENST00000375759.3:c.5594T>G p.Leu1865Arg p.L1865R ENST00000375759 NM_015001.2 1865 cTt/cGt 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16258493 16258493 + missense_variant Missense_Mutation SNP G A rs201549400 SKCO1_LARGE_INTESTINE ENST00000375759.3:c.5758G>A p.Val1920Ile p.V1920I ENST00000375759 NM_015001.2 1920 Gtc/Atc 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16258493 16258493 + missense_variant Missense_Mutation SNP G A rs201549400 SW837_LARGE_INTESTINE ENST00000375759.3:c.5758G>A p.Val1920Ile p.V1920I ENST00000375759 NM_015001.2 1920 Gtc/Atc 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16258608 16258608 + missense_variant Missense_Mutation SNP G A rs143927299 TGBC11TKB_STOMACH ENST00000375759.3:c.5873G>A p.Arg1958Gln p.R1958Q ENST00000375759 NM_015001.2 1958 cGg/cAg 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16258616 16258616 + missense_variant Missense_Mutation SNP G A rs745908478 EFO27_OVARY ENST00000375759.3:c.5881G>A p.Asp1961Asn p.D1961N ENST00000375759 NM_015001.2 1961 Gat/Aat 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16258679 16258679 + missense_variant Missense_Mutation SNP C T rs749329894 IM95_STOMACH ENST00000375759.3:c.5944C>T p.Arg1982Trp p.R1982W ENST00000375759 NM_015001.2 1982 Cgg/Tgg 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16258707 16258707 + missense_variant Missense_Mutation SNP C T RL952_ENDOMETRIUM ENST00000375759.3:c.5972C>T p.Ala1991Val p.A1991V ENST00000375759 NM_015001.2 1991 gCt/gTt 11/15 SUCCESS | |
| 1 16258889 16258889 A A DV90_LUNG FAILED | |
| SPEN 23013 GRCh37 1 16258894 16258894 + missense_variant Missense_Mutation SNP C A rs779191752 COLO320_LARGE_INTESTINE ENST00000375759.3:c.6159C>A p.Asn2053Lys p.N2053K ENST00000375759 NM_015001.2 2053 aaC/aaA 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16258895 16258895 + missense_variant Missense_Mutation SNP C A rs201103146 P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000375759.3:c.6160C>A p.Pro2054Thr p.P2054T ENST00000375759 NM_015001.2 2054 Ccc/Acc 11/15 SUCCESS | |
| 1 16258944 16258944 A A GP2D_LARGE_INTESTINE FAILED | |
| SPEN 23013 GRCh37 1 16258968 16258968 + missense_variant Missense_Mutation SNP G C rs777734924 CAL12T_LUNG ENST00000375759.3:c.6233G>C p.Gly2078Ala p.G2078A ENST00000375759 NM_015001.2 2078 gGa/gCa 11/15 SUCCESS | |
| 1 16259043 16259043 G G KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 16259043 16259043 G G RL952_ENDOMETRIUM FAILED | |
| SPEN 23013 GRCh37 1 16259094 16259094 + missense_variant Missense_Mutation SNP C T rs369316558 COLO741_SKIN ENST00000375759.3:c.6359C>T p.Ser2120Phe p.S2120F ENST00000375759 NM_015001.2 2120 tCc/tTc 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16259258 16259258 + missense_variant Missense_Mutation SNP G A rs775933153 LOVO_LARGE_INTESTINE ENST00000375759.3:c.6523G>A p.Val2175Met p.V2175M ENST00000375759 NM_015001.2 2175 Gtg/Atg 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16259340 16259340 + missense_variant Missense_Mutation SNP A T EN_ENDOMETRIUM ENST00000375759.3:c.6605A>T p.Asp2202Val p.D2202V ENST00000375759 NM_015001.2 2202 gAc/gTc 11/15 SUCCESS | |
| 1 16259480 16259480 C C 22RV1_PROSTATE FAILED | |
| 1 16259480 16259480 C C HEC151_ENDOMETRIUM FAILED | |
| 1 16259480 16259480 C C REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| SPEN 23013 GRCh37 1 16259536 16259536 + missense_variant Missense_Mutation SNP G C CHAGOK1_LUNG ENST00000375759.3:c.6801G>C p.Glu2267Asp p.E2267D ENST00000375759 NM_015001.2 2267 gaG/gaC 11/15 SUCCESS | |
| 1 16259648 16259650 AGC AGC NUGC4_STOMACH FAILED | |
| 1 16259648 16259650 AGC AGC SNU1077_ENDOMETRIUM FAILED | |
| 1 16259648 16259650 AGC AGC SNU349_KIDNEY FAILED | |
| 1 16259648 16259650 AGC AGC SNU761_LIVER FAILED | |
| 1 16259648 16259650 AGC AGC SNU869_BILIARY_TRACT FAILED | |
| 1 16259828 16259828 G G OVTOKO_OVARY FAILED | |
| SPEN 23013 GRCh37 1 16259972 16259972 + stop_gained Nonsense_Mutation SNP C T KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000375759.3:c.7237C>T p.Gln2413Ter p.Q2413* ENST00000375759 NM_015001.2 2413 Caa/Taa 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16260090 16260090 + missense_variant Missense_Mutation SNP C T rs559906789 GP2D_LARGE_INTESTINE ENST00000375759.3:c.7355C>T p.Ser2452Phe p.S2452F ENST00000375759 NM_015001.2 2452 tCc/tTc 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16260213 16260214 + frameshift_variant Frame_Shift_Ins INS - C LOVO_LARGE_INTESTINE ENST00000375759.3:c.7484dup p.Thr2496TyrfsTer2 p.T2496Yfs*2 ENST00000375759 NM_015001.2 2493 agc/agCc 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16260323 16260323 + missense_variant Missense_Mutation SNP A G rs61756186 J82_URINARY_TRACT ENST00000375759.3:c.7588A>G p.Ser2530Gly p.S2530G ENST00000375759 NM_015001.2 2530 Agc/Ggc 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16260330 16260330 + missense_variant Missense_Mutation SNP G A rs749588150 CALU1_LUNG ENST00000375759.3:c.7595G>A p.Ser2532Asn p.S2532N ENST00000375759 NM_015001.2 2532 aGc/aAc 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16260372 16260372 + missense_variant Missense_Mutation SNP C T rs372487369 SNU1040_LARGE_INTESTINE ENST00000375759.3:c.7637C>T p.Ala2546Val p.A2546V ENST00000375759 NM_015001.2 2546 gCc/gTc 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16260416 16260416 + missense_variant Missense_Mutation SNP C T KM12_LARGE_INTESTINE ENST00000375759.3:c.7681C>T p.Pro2561Ser p.P2561S ENST00000375759 NM_015001.2 2561 Cct/Tct 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16260416 16260416 + missense_variant Missense_Mutation SNP C G KMS34_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000375759.3:c.7681C>G p.Pro2561Ala p.P2561A ENST00000375759 NM_015001.2 2561 Cct/Gct 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16260441 16260441 + missense_variant Missense_Mutation SNP A G HS834T_SKIN ENST00000375759.3:c.7706A>G p.His2569Arg p.H2569R ENST00000375759 NM_015001.2 2569 cAt/cGt 11/15 SUCCESS | |
| 1 16260558 16260558 A A SNUC4_LARGE_INTESTINE FAILED | |
| SPEN 23013 GRCh37 1 16260617 16260617 + missense_variant Missense_Mutation SNP A C IM95_STOMACH ENST00000375759.3:c.7882A>C p.Ser2628Arg p.S2628R ENST00000375759 NM_015001.2 2628 Agc/Cgc 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16260692 16260692 + missense_variant Missense_Mutation SNP G A rs201348264 NCIH660_PROSTATE ENST00000375759.3:c.7957G>A p.Ala2653Thr p.A2653T ENST00000375759 NM_015001.2 2653 Gca/Aca 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16260692 16260692 + missense_variant Missense_Mutation SNP G A rs201348264 SNU175_LARGE_INTESTINE ENST00000375759.3:c.7957G>A p.Ala2653Thr p.A2653T ENST00000375759 NM_015001.2 2653 Gca/Aca 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16260782 16260782 + missense_variant Missense_Mutation SNP G A rs1451746161 JHH4_LIVER ENST00000375759.3:c.8047G>A p.Val2683Met p.V2683M ENST00000375759 NM_015001.2 2683 Gtg/Atg 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16261095 16261095 + missense_variant Missense_Mutation SNP C T MEWO_SKIN ENST00000375759.3:c.8360C>T p.Pro2787Leu p.P2787L ENST00000375759 NM_015001.2 2787 cCa/cTa 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16261107 16261107 + missense_variant Missense_Mutation SNP C A JHUEM1_ENDOMETRIUM ENST00000375759.3:c.8372C>A p.Pro2791His p.P2791H ENST00000375759 NM_015001.2 2791 cCt/cAt 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16261121 16261121 + missense_variant Missense_Mutation SNP C G rs202070337 CADOES1_BONE ENST00000375759.3:c.8386C>G p.Arg2796Gly p.R2796G ENST00000375759 NM_015001.2 2796 Cgt/Ggt 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16261121 16261121 + missense_variant Missense_Mutation SNP C G rs202070337 SNU175_LARGE_INTESTINE ENST00000375759.3:c.8386C>G p.Arg2796Gly p.R2796G ENST00000375759 NM_015001.2 2796 Cgt/Ggt 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16261220 16261220 + missense_variant Missense_Mutation SNP C T rs753306830 MDAPCA2B_PROSTATE ENST00000375759.3:c.8485C>T p.Arg2829Trp p.R2829W ENST00000375759 NM_015001.2 2829 Cgg/Tgg 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16261229 16261229 + missense_variant Missense_Mutation SNP G A rs1280606013 SNU175_LARGE_INTESTINE ENST00000375759.3:c.8494G>A p.Ala2832Thr p.A2832T ENST00000375759 NM_015001.2 2832 Gcc/Acc 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16261247 16261247 + missense_variant Missense_Mutation SNP C T COLO679_SKIN ENST00000375759.3:c.8512C>T p.Pro2838Ser p.P2838S ENST00000375759 NM_015001.2 2838 Ccc/Tcc 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16261400 16261400 + missense_variant Missense_Mutation SNP A T SNU1040_LARGE_INTESTINE ENST00000375759.3:c.8665A>T p.Thr2889Ser p.T2889S ENST00000375759 NM_015001.2 2889 Acc/Tcc 11/15 SUCCESS | |
| 1 16261409 16261410 AC AC OCIAML2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| SPEN 23013 GRCh37 1 16261428 16261428 + missense_variant Missense_Mutation SNP T C SNU1040_LARGE_INTESTINE ENST00000375759.3:c.8693T>C p.Val2898Ala p.V2898A ENST00000375759 NM_015001.2 2898 gTg/gCg 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16261452 16261452 + missense_variant Missense_Mutation SNP G A BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000375759.3:c.8717G>A p.Arg2906Lys p.R2906K ENST00000375759 NM_015001.2 2906 aGg/aAg 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16261472 16261472 + missense_variant Missense_Mutation SNP G A rs759105956 HCC78_LUNG ENST00000375759.3:c.8737G>A p.Glu2913Lys p.E2913K ENST00000375759 NM_015001.2 2913 Gag/Aag 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16261628 16261628 + missense_variant Missense_Mutation SNP A G MDAPCA2B_PROSTATE ENST00000375759.3:c.8893A>G p.Thr2965Ala p.T2965A ENST00000375759 NM_015001.2 2965 Acc/Gcc 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16261656 16261656 + missense_variant Missense_Mutation SNP A T NCIH2342_LUNG ENST00000375759.3:c.8921A>T p.Gln2974Leu p.Q2974L ENST00000375759 NM_015001.2 2974 cAg/cTg 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16261743 16261743 + missense_variant Missense_Mutation SNP C T rs1386910185 RERFGC1B_STOMACH ENST00000375759.3:c.9008C>T p.Ser3003Leu p.S3003L ENST00000375759 NM_015001.2 3003 tCg/tTg 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16261758 16261758 + missense_variant Missense_Mutation SNP C A OCUM1_STOMACH ENST00000375759.3:c.9023C>A p.Pro3008Gln p.P3008Q ENST00000375759 NM_015001.2 3008 cCa/cAa 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16261767 16261767 + missense_variant Missense_Mutation SNP G A rs759881159 KASUMI6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000375759.3:c.9032G>A p.Arg3011Gln p.R3011Q ENST00000375759 NM_015001.2 3011 cGa/cAa 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16261767 16261767 + missense_variant Missense_Mutation SNP G A rs759881159 OVTOKO_OVARY ENST00000375759.3:c.9032G>A p.Arg3011Gln p.R3011Q ENST00000375759 NM_015001.2 3011 cGa/cAa 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16261767 16261767 + missense_variant Missense_Mutation SNP G A rs759881159 SNU601_STOMACH ENST00000375759.3:c.9032G>A p.Arg3011Gln p.R3011Q ENST00000375759 NM_015001.2 3011 cGa/cAa 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16261767 16261767 + missense_variant Missense_Mutation SNP G A rs759881159 TE14_OESOPHAGUS ENST00000375759.3:c.9032G>A p.Arg3011Gln p.R3011Q ENST00000375759 NM_015001.2 3011 cGa/cAa 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16261970 16261970 + missense_variant Missense_Mutation SNP A G HEC6_ENDOMETRIUM ENST00000375759.3:c.9235A>G p.Met3079Val p.M3079V ENST00000375759 NM_015001.2 3079 Atg/Gtg 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16261980 16261980 + missense_variant Missense_Mutation SNP A G 22RV1_PROSTATE ENST00000375759.3:c.9245A>G p.His3082Arg p.H3082R ENST00000375759 NM_015001.2 3082 cAc/cGc 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16262055 16262055 + missense_variant Missense_Mutation SNP G A rs1470491514 2313287_STOMACH ENST00000375759.3:c.9320G>A p.Ser3107Asn p.S3107N ENST00000375759 NM_015001.2 3107 aGt/aAt 11/15 SUCCESS | |
| 1 16262091 16262093 CTC CTC PK45H_PANCREAS FAILED | |
| SPEN 23013 GRCh37 1 16262222 16262222 + missense_variant Missense_Mutation SNP C T L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000375759.3:c.9487C>T p.His3163Tyr p.H3163Y ENST00000375759 NM_015001.2 3163 Cac/Tac 11/15 SUCCESS | |
| 1 16262460 16262465 CCCCCA CCCCCA SNU1040_LARGE_INTESTINE FAILED | |
| SPEN 23013 GRCh37 1 16262711 16262711 + missense_variant Missense_Mutation SNP C G rs1207710170 MDAMB361_BREAST ENST00000375759.3:c.9976C>G p.Pro3326Ala p.P3326A ENST00000375759 NM_015001.2 3326 Ccc/Gcc 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16262715 16262715 + missense_variant Missense_Mutation SNP C A HT29_LARGE_INTESTINE ENST00000375759.3:c.9980C>A p.Ala3327Asp p.A3327D ENST00000375759 NM_015001.2 3327 gCc/gAc 11/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16263841 16263841 + missense_variant Missense_Mutation SNP C T LN18_CENTRAL_NERVOUS_SYSTEM ENST00000375759.3:c.10210C>T p.Leu3404Phe p.L3404F ENST00000375759 NM_015001.2 3404 Ctc/Ttc 12/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16265322 16265322 + missense_variant Missense_Mutation SNP C T rs753422881 HS343T_BREAST ENST00000375759.3:c.10814C>T p.Ala3605Val p.A3605V ENST00000375759 NM_015001.2 3605 gCc/gTc 14/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16265831 16265831 + missense_variant Missense_Mutation SNP C T COLO679_SKIN ENST00000375759.3:c.10904C>T p.Ser3635Phe p.S3635F ENST00000375759 NM_015001.2 3635 tCt/tTt 15/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16265908 16265908 + missense_variant Missense_Mutation SNP A G PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000375759.3:c.10981A>G p.Ile3661Val p.I3661V ENST00000375759 NM_015001.2 3661 Att/Gtt 15/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16265915 16265915 + missense_variant Missense_Mutation SNP C T BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000375759.3:c.10988C>T p.Ser3663Phe p.S3663F ENST00000375759 NM_015001.2 3663 tCc/tTc 15/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16265928 16265928 + 3_prime_UTR_variant 3'UTR SNP T C CCK81_LARGE_INTESTINE ENST00000375759.3:c.*6T>C ENST00000375759 NM_015001.2 15/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16266005 16266005 + 3_prime_UTR_variant 3'UTR SNP A C rs564305786 HUCCT1_BILIARY_TRACT ENST00000375759.3:c.*83A>C ENST00000375759 NM_015001.2 15/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16266008 16266008 + 3_prime_UTR_variant 3'UTR SNP C T CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000375759.3:c.*86C>T ENST00000375759 NM_015001.2 15/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16266013 16266013 + 3_prime_UTR_variant 3'UTR SNP G A rs533061279 NCIH2172_LUNG ENST00000375759.3:c.*91G>A ENST00000375759 NM_015001.2 15/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16266047 16266047 + 3_prime_UTR_variant 3'UTR SNP G A rs546449426 NCIH650_LUNG ENST00000375759.3:c.*125G>A ENST00000375759 NM_015001.2 15/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16266066 16266066 + 3_prime_UTR_variant 3'UTR SNP G C rs1029696118 MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000375759.3:c.*144G>C ENST00000375759 NM_015001.2 15/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16266066 16266066 + 3_prime_UTR_variant 3'UTR SNP G T rs1029696118 NCIH1915_LUNG ENST00000375759.3:c.*144G>T ENST00000375759 NM_015001.2 15/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16266089 16266089 + 3_prime_UTR_variant 3'UTR SNP T C rs1433742719 HS863T_BONE ENST00000375759.3:c.*167T>C ENST00000375759 NM_015001.2 15/15 SUCCESS | |
| SPEN 23013 GRCh37 1 16266090 16266090 + 3_prime_UTR_variant 3'UTR SNP A G rs1428549386 HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000375759.3:c.*168A>G ENST00000375759 NM_015001.2 15/15 SUCCESS | |
| EPHA2 1969 GRCh37 1 16451793 16451793 + missense_variant Missense_Mutation SNP G A rs913445751 RL952_ENDOMETRIUM ENST00000358432.5:c.2848C>T p.Arg950Trp p.R950W ENST00000358432 NM_004431.3 950 Cgg/Tgg 17/17 SUCCESS | |
| EPHA2 1969 GRCh37 1 16455971 16455971 + missense_variant Missense_Mutation SNP G T SNU175_LARGE_INTESTINE ENST00000358432.5:c.2783C>A p.Ala928Asp p.A928D ENST00000358432 NM_004431.3 928 gCc/gAc 16/17 SUCCESS | |
| EPHA2 1969 GRCh37 1 16456023 16456023 + missense_variant Missense_Mutation SNP C T rs376030072 HT29_LARGE_INTESTINE ENST00000358432.5:c.2731G>A p.Glu911Lys p.E911K ENST00000358432 NM_004431.3 911 Gag/Aag 16/17 SUCCESS | |
| EPHA2 1969 GRCh37 1 16456067 16456067 + missense_variant Missense_Mutation SNP G C MFE319_ENDOMETRIUM ENST00000358432.5:c.2687C>G p.Pro896Arg p.P896R ENST00000358432 NM_004431.3 896 cCc/cGc 16/17 SUCCESS | |
| EPHA2 1969 GRCh37 1 16456761 16456761 + missense_variant Missense_Mutation SNP C A NCIH1373_LUNG ENST00000358432.5:c.2629G>T p.Ala877Ser p.A877S ENST00000358432 NM_004431.3 877 Gcc/Tcc 15/17 SUCCESS | |
| EPHA2 1969 GRCh37 1 16456866 16456866 + missense_variant Missense_Mutation SNP A G HEC1B_ENDOMETRIUM ENST00000358432.5:c.2524T>C p.Cys842Arg p.C842R ENST00000358432 NM_004431.3 842 Tgc/Cgc 15/17 SUCCESS | |
| EPHA2 1969 GRCh37 1 16456883 16456883 + missense_variant Missense_Mutation SNP A C MEWO_SKIN ENST00000358432.5:c.2507T>G p.Leu836Arg p.L836R ENST00000358432 NM_004431.3 836 cTc/cGc 15/17 SUCCESS | |
| EPHA2 1969 GRCh37 1 16458216 16458216 + missense_variant,splice_region_variant Missense_Mutation SNP C G COLO792_SKIN ENST00000358432.5:c.2475G>C p.Glu825Asp p.E825D ENST00000358432 NM_004431.3 825 gaG/gaC 14/17 SUCCESS | |
| EPHA2 1969 GRCh37 1 16458288 16458288 + missense_variant Missense_Mutation SNP C A GSU_STOMACH ENST00000358432.5:c.2403G>T p.Trp801Cys p.W801C ENST00000358432 NM_004431.3 801 tgG/tgT 14/17 SUCCESS | |
| EPHA2 1969 GRCh37 1 16458338 16458338 + missense_variant Missense_Mutation SNP C A rs766078852 DMS454_LUNG ENST00000358432.5:c.2353G>T p.Ala785Ser p.A785S ENST00000358432 NM_004431.3 785 Gcc/Tcc 14/17 SUCCESS | |
| EPHA2 1969 GRCh37 1 16458338 16458338 + missense_variant Missense_Mutation SNP C T rs766078852 TOV21G_OVARY ENST00000358432.5:c.2353G>A p.Ala785Thr p.A785T ENST00000358432 NM_004431.3 785 Gcc/Acc 14/17 SUCCESS | |
| EPHA2 1969 GRCh37 1 16458364 16458364 + missense_variant,splice_region_variant Missense_Mutation SNP C T SNU349_KIDNEY ENST00000358432.5:c.2327G>A p.Gly776Asp p.G776D ENST00000358432 NM_004431.3 776 gGc/gAc 14/17 SUCCESS | |
| EPHA2 1969 GRCh37 1 16458576 16458576 + missense_variant Missense_Mutation SNP C T CW2_LARGE_INTESTINE ENST00000358432.5:c.2308G>A p.Ala770Thr p.A770T ENST00000358432 NM_004431.3 770 Gcc/Acc 13/17 SUCCESS | |
| EPHA2 1969 GRCh37 1 16458638 16458638 + missense_variant Missense_Mutation SNP C T rs1287005112 CCK81_LARGE_INTESTINE ENST00000358432.5:c.2246G>A p.Ser749Asn p.S749N ENST00000358432 NM_004431.3 749 aGc/aAc 13/17 SUCCESS | |
| EPHA2 1969 GRCh37 1 16458741 16458741 + stop_gained Nonsense_Mutation SNP G A HCT15_LARGE_INTESTINE ENST00000358432.5:c.2143C>T p.Gln715Ter p.Q715* ENST00000358432 NM_004431.3 715 Cag/Tag 13/17 SUCCESS | |
| EPHA2 1969 GRCh37 1 16460000 16460000 + missense_variant Missense_Mutation SNP T G SNU1079_BILIARY_TRACT ENST00000358432.5:c.1840A>C p.Thr614Pro p.T614P ENST00000358432 NM_004431.3 614 Act/Cct 10/17 SUCCESS | |
| EPHA2 1969 GRCh37 1 16460963 16460963 + missense_variant,splice_region_variant Missense_Mutation SNP C A IM95_STOMACH ENST00000358432.5:c.1682G>T p.Arg561Met p.R561M ENST00000358432 NM_004431.3 561 aGg/aTg 8/17 SUCCESS | |
| EPHA2 1969 GRCh37 1 16461618 16461618 + missense_variant Missense_Mutation SNP G T SNU407_LARGE_INTESTINE ENST00000358432.5:c.1495C>A p.Pro499Thr p.P499T ENST00000358432 NM_004431.3 499 Cca/Aca 7/17 SUCCESS | |
| EPHA2 1969 GRCh37 1 16464590 16464590 + missense_variant Missense_Mutation SNP C T rs754639981 SCC4_UPPER_AERODIGESTIVE_TRACT ENST00000358432.5:c.1070G>A p.Arg357His p.R357H ENST00000358432 NM_004431.3 357 cGc/cAc 5/17 SUCCESS | |
| EPHA2 1969 GRCh37 1 16474929 16474929 + missense_variant Missense_Mutation SNP G T rs751863741 LS411N_LARGE_INTESTINE ENST00000358432.5:c.767C>A p.Pro256His p.P256H ENST00000358432 NM_004431.3 256 cCc/cAc 3/17 SUCCESS | |
| EPHA2 1969 GRCh37 1 16474932 16474933 + frameshift_variant Frame_Shift_Ins INS - CC rs1553137227 SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358432.5:c.762_763dup p.Val255GlyfsTer139 p.V255Gfs*139 ENST00000358432 NM_004431.3 255 gtg/gGGtg 3/17 SUCCESS | |
| 1 16474972 16474972 C C KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| EPHA2 1969 GRCh37 1 16474976 16474977 + frameshift_variant Frame_Shift_Ins INS - C rs1412658647 HEC108_ENDOMETRIUM ENST00000358432.5:c.719dup p.Glu241Ter p.E241* ENST00000358432 NM_004431.3 240 ggt/ggGt 3/17 SUCCESS | |
| 1 16474977 16474977 C C HEC151_ENDOMETRIUM FAILED | |
| 1 16474977 16474977 C C HEC265_ENDOMETRIUM FAILED | |
| 1 16474977 16474977 C C IGROV1_OVARY FAILED | |
| EPHA2 1969 GRCh37 1 16475037 16475037 + missense_variant Missense_Mutation SNP G A rs780904546 KNS60_CENTRAL_NERVOUS_SYSTEM ENST00000358432.5:c.659C>T p.Ala220Val p.A220V ENST00000358432 NM_004431.3 220 gCa/gTa 3/17 SUCCESS | |
| EPHA2 1969 GRCh37 1 16475419 16475419 + missense_variant Missense_Mutation SNP G A rs200152244 P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358432.5:c.277C>T p.Arg93Cys p.R93C ENST00000358432 NM_004431.3 93 Cgt/Tgt 3/17 SUCCESS | |
| EPHA2 1969 GRCh37 1 16475436 16475436 + missense_variant Missense_Mutation SNP T C HCT15_LARGE_INTESTINE ENST00000358432.5:c.260A>G p.Tyr87Cys p.Y87C ENST00000358432 NM_004431.3 87 tAc/tGc 3/17 SUCCESS | |
| EPHA2 1969 GRCh37 1 16477425 16477425 + missense_variant Missense_Mutation SNP T A rs1557516913 MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358432.5:c.119A>T p.Glu40Val p.E40V ENST00000358432 NM_004431.3 40 gAg/gTg 2/17 SUCCESS | |
| SDHB 6390 GRCh37 1 17345331 17345331 + 3_prime_UTR_variant 3'UTR SNP G C rs1001508935 NCIH23_LUNG ENST00000375499.3:c.*45C>G ENST00000375499 NM_003000.2 8/8 SUCCESS | |
| SDHB 6390 GRCh37 1 17345375 17345375 + 3_prime_UTR_variant 3'UTR SNP G A NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000375499.3:c.*1C>T ENST00000375499 NM_003000.2 8/8 SUCCESS | |
| 1 17345435 17345435 C C 253JBV_URINARY_TRACT FAILED | |
| 1 17345435 17345435 C C 253J_URINARY_TRACT FAILED | |
| SDHB 6390 GRCh37 1 17349110 17349110 + missense_variant Missense_Mutation SNP C G NCIH2342_LUNG ENST00000375499.3:c.758G>C p.Cys253Ser p.C253S ENST00000375499 NM_003000.2 253 tGt/tCt 7/8 SUCCESS | |
| SDHB 6390 GRCh37 1 17349214 17349214 + stop_gained Nonsense_Mutation SNP C T rs916516745 OSRC2_KIDNEY ENST00000375499.3:c.654G>A p.Trp218Ter p.W218* ENST00000375499 NM_003000.2 218 tgG/tgA 7/8 SUCCESS | |
| SDHB 6390 GRCh37 1 17359554 17359554 + splice_donor_variant Splice_Site SNP C T rs786201063 GCIY_STOMACH ENST00000375499.3:c.286+1G>A p.X96_splice ENST00000375499 NM_003000.2 96 SUCCESS | |
| PAX7 5081 GRCh37 1 18960932 18960932 + missense_variant Missense_Mutation SNP G A rs755501864 DV90_LUNG ENST00000420770.2:c.221G>A p.Arg74Gln p.R74Q ENST00000420770 NM_001135254.1 74 cGa/cAa 2/9 SUCCESS | |
| PAX7 5081 GRCh37 1 18960984 18960984 + missense_variant Missense_Mutation SNP G T HCT15_LARGE_INTESTINE ENST00000420770.2:c.273G>T p.Gln91His p.Q91H ENST00000420770 NM_001135254.1 91 caG/caT 2/9 SUCCESS | |
| 1 18961629 18961629 A A MFE319_ENDOMETRIUM FAILED | |
| PAX7 5081 GRCh37 1 18962752 18962752 + missense_variant Missense_Mutation SNP G A REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000420770.2:c.473G>A p.Arg158His p.R158H ENST00000420770 NM_001135254.1 158 cGc/cAc 4/9 SUCCESS | |
| PAX7 5081 GRCh37 1 18962799 18962799 + missense_variant Missense_Mutation SNP G A RKN_SOFT_TISSUE ENST00000420770.2:c.520G>A p.Asp174Asn p.D174N ENST00000420770 NM_001135254.1 174 Gac/Aac 4/9 SUCCESS | |
| PAX7 5081 GRCh37 1 18962804 18962804 + missense_variant Missense_Mutation SNP G C IGR37_SKIN ENST00000420770.2:c.525G>C p.Lys175Asn p.K175N ENST00000420770 NM_001135254.1 175 aaG/aaC 4/9 SUCCESS | |
| PAX7 5081 GRCh37 1 18962865 18962865 + missense_variant,splice_region_variant Missense_Mutation SNP G T FU97_STOMACH ENST00000420770.2:c.586G>T p.Gly196Trp p.G196W ENST00000420770 NM_001135254.1 196 Ggg/Tgg 4/9 SUCCESS | |
| PAX7 5081 GRCh37 1 19029608 19029608 + missense_variant Missense_Mutation SNP C T rs756150156 HEC108_ENDOMETRIUM ENST00000420770.2:c.973C>T p.Arg325Trp p.R325W ENST00000420770 NM_001135254.1 325 Cgg/Tgg 7/9 SUCCESS | |
| PAX7 5081 GRCh37 1 19029730 19029730 + missense_variant Missense_Mutation SNP C A JHUEM7_ENDOMETRIUM ENST00000420770.2:c.1095C>A p.Phe365Leu p.F365L ENST00000420770 NM_001135254.1 365 ttC/ttA 7/9 SUCCESS | |
| PAX7 5081 GRCh37 1 19062190 19062190 + missense_variant Missense_Mutation SNP C A NCIH510_LUNG ENST00000420770.2:c.1220C>A p.Ser407Tyr p.S407Y ENST00000420770 NM_001135254.1 407 tCc/tAc 8/9 SUCCESS | |
| PAX7 5081 GRCh37 1 19062192 19062192 + missense_variant Missense_Mutation SNP C T KM12_LARGE_INTESTINE ENST00000420770.2:c.1222C>T p.Pro408Ser p.P408S ENST00000420770 NM_001135254.1 408 Ccg/Tcg 8/9 SUCCESS | |
| PAX7 5081 GRCh37 1 19062192 19062192 + missense_variant Missense_Mutation SNP C A RERFLCAD2_LUNG ENST00000420770.2:c.1222C>A p.Pro408Thr p.P408T ENST00000420770 NM_001135254.1 408 Ccg/Acg 8/9 SUCCESS | |
| 1 19062532 19062532 A A SNUC2A_LARGE_INTESTINE FAILED | |
| PAX7 5081 GRCh37 1 19062580 19062580 + intron_variant Intron SNP T G NCIH446_LUNG ENST00000420770.2:c.1402+208T>G p.*468* ENST00000420770 NM_001135254.1 SUCCESS | |
| PAX7 5081 GRCh37 1 19062610 19062610 + intron_variant Intron SNP T A NCIH2023_LUNG ENST00000420770.2:c.1402+238T>A p.*468* ENST00000420770 NM_001135254.1 SUCCESS | |
| PINK1 65018 GRCh37 1 20971119 20971119 + missense_variant Missense_Mutation SNP C G rs112600292 NCIH1339_LUNG ENST00000321556.4:c.913C>G p.Pro305Ala p.P305A ENST00000321556 NM_032409.2 305 Cct/Gct 4/8 SUCCESS | |
| PINK1 65018 GRCh37 1 20972008 20972008 + intron_variant Intron SNP G A rs755530256 KASUMI6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000321556.4:c.960-45G>A p.*320* ENST00000321556 NM_032409.2 SUCCESS | |
| PINK1 65018 GRCh37 1 20972061 20972061 + missense_variant Missense_Mutation SNP G T 786O_KIDNEY ENST00000321556.4:c.968G>T p.Cys323Phe p.C323F ENST00000321556 NM_032409.2 323 tGt/tTt 5/8 SUCCESS | |
| PINK1 65018 GRCh37 1 20972069 20972069 + missense_variant Missense_Mutation SNP C T rs376323248 SNU1040_LARGE_INTESTINE ENST00000321556.4:c.976C>T p.Arg326Cys p.R326C ENST00000321556 NM_032409.2 326 Cgc/Tgc 5/8 SUCCESS | |
| PINK1 65018 GRCh37 1 20972141 20972141 + missense_variant Missense_Mutation SNP G A rs764648391 JIMT1_BREAST ENST00000321556.4:c.1048G>A p.Val350Met p.V350M ENST00000321556 NM_032409.2 350 Gtg/Atg 5/8 SUCCESS | |
| PINK1 65018 GRCh37 1 20972199 20972199 + missense_variant Missense_Mutation SNP T C rs1195888869 CAL148_BREAST ENST00000321556.4:c.1106T>C p.Leu369Pro p.L369P ENST00000321556 NM_032409.2 369 cTt/cCt 5/8 SUCCESS | |
| PINK1 65018 GRCh37 1 20975560 20975560 + missense_variant Missense_Mutation SNP A G HEC59_ENDOMETRIUM ENST00000321556.4:c.1324A>G p.Ile442Val p.I442V ENST00000321556 NM_032409.2 442 Atc/Gtc 7/8 SUCCESS | |
| PINK1 65018 GRCh37 1 20975564 20975564 + missense_variant Missense_Mutation SNP C T rs138135040 SJSA1_BONE ENST00000321556.4:c.1328C>T p.Ala443Val p.A443V ENST00000321556 NM_032409.2 443 gCc/gTc 7/8 SUCCESS | |
| PINK1 65018 GRCh37 1 20975575 20975575 + missense_variant Missense_Mutation SNP T C CW2_LARGE_INTESTINE ENST00000321556.4:c.1339T>C p.Phe447Leu p.F447L ENST00000321556 NM_032409.2 447 Ttc/Ctc 7/8 SUCCESS | |
| PINK1 65018 GRCh37 1 20975680 20975680 + missense_variant Missense_Mutation SNP G A rs773843241 KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000321556.4:c.1444G>A p.Val482Met p.V482M ENST00000321556 NM_032409.2 482 Gtg/Atg 7/8 SUCCESS | |
| PINK1 65018 GRCh37 1 20975680 20975680 + missense_variant Missense_Mutation SNP G A rs773843241 TE10_OESOPHAGUS ENST00000321556.4:c.1444G>A p.Val482Met p.V482M ENST00000321556 NM_032409.2 482 Gtg/Atg 7/8 SUCCESS | |
| PINK1 65018 GRCh37 1 20975710 20975710 + stop_gained Nonsense_Mutation SNP C T rs34208370 RL952_ENDOMETRIUM ENST00000321556.4:c.1474C>T p.Arg492Ter p.R492* ENST00000321556 NM_032409.2 492 Cga/Tga 7/8 SUCCESS | |
| PINK1 65018 GRCh37 1 20977011 20977011 + missense_variant Missense_Mutation SNP G A rs531477772 PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000321556.4:c.1573G>A p.Asp525Asn p.D525N ENST00000321556 NM_032409.2 525 Gac/Aac 8/8 SUCCESS | |
| PINK1 65018 GRCh37 1 20977047 20977047 + missense_variant Missense_Mutation SNP G A rs771032673 HCT116_LARGE_INTESTINE ENST00000321556.4:c.1609G>A p.Ala537Thr p.A537T ENST00000321556 NM_032409.2 537 Gcc/Acc 8/8 SUCCESS | |
| PINK1 65018 GRCh37 1 20977172 20977172 + missense_variant Missense_Mutation SNP G C SNU503_LARGE_INTESTINE ENST00000321556.4:c.1734G>C p.Arg578Ser p.R578S ENST00000321556 NM_032409.2 578 agG/agC 8/8 SUCCESS | |
| 1 20977307 20977307 A A NCIH510_LUNG FAILED | |
| CDC42 998 GRCh37 1 22404921 22404921 + splice_acceptor_variant Splice_Site SNP G A SW48_LARGE_INTESTINE ENST00000344548.3:c.-50-1G>A p.X17_splice ENST00000344548 NM_001039802.1 17 SUCCESS | |
| CDC42 998 GRCh37 1 22404998 22404998 + synonymous_variant Silent SNP G T BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000344548.3:c.27G>T p.Val9= p.V9= ENST00000344548 NM_001039802.1 9 gtG/gtT 3/7 SUCCESS | |
| CDC42 998 GRCh37 1 22405001 22405001 + synonymous_variant Silent SNP C T rs375924804 BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000344548.3:c.30C>T p.Gly10= p.G10= ENST00000344548 NM_001039802.1 10 ggC/ggT 3/7 SUCCESS | |
| CDC42 998 GRCh37 1 22412947 22412947 + missense_variant Missense_Mutation SNP A G SNU1_STOMACH ENST00000344548.3:c.194A>G p.Asp65Gly p.D65G ENST00000344548 NM_001039802.1 65 gAc/gGc 5/7 SUCCESS | |
| CDC42 998 GRCh37 1 22412965 22412965 + missense_variant Missense_Mutation SNP G C PK1_PANCREAS ENST00000344548.3:c.212G>C p.Ser71Thr p.S71T ENST00000344548 NM_001039802.1 71 aGt/aCt 5/7 SUCCESS | |
| CDC42 998 GRCh37 1 22413004 22413004 + missense_variant Missense_Mutation SNP T C AN3CA_ENDOMETRIUM ENST00000344548.3:c.251T>C p.Val84Ala p.V84A ENST00000344548 NM_001039802.1 84 gTg/gCg 5/7 SUCCESS | |
| CDC42 998 GRCh37 1 22413313 22413313 + missense_variant Missense_Mutation SNP G T HCC78_LUNG ENST00000344548.3:c.440G>T p.Arg147Leu p.R147L ENST00000344548 NM_001039802.1 147 cGt/cTt 6/7 SUCCESS | |
| CDC42 998 GRCh37 1 22416528 22416528 + intron_variant Intron SNP T C BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000344548.3:c.487-1393T>C p.*163* ENST00000344548 NM_001039802.1 SUCCESS | |
| CDC42 998 GRCh37 1 22416543 22416543 + intron_variant Intron SNP T C BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000344548.3:c.487-1378T>C p.*163* ENST00000344548 NM_001039802.1 SUCCESS | |
| CDC42 998 GRCh37 1 22416583 22416583 + intron_variant Intron SNP C T rs200239134 KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000344548.3:c.487-1338C>T p.*163* ENST00000344548 NM_001039802.1 SUCCESS | |
| CDC42 998 GRCh37 1 22416585 22416585 + intron_variant Intron SNP T C SNU324_PANCREAS ENST00000344548.3:c.487-1336T>C p.*163* ENST00000344548 NM_001039802.1 SUCCESS | |
| 1 22416588 22416588 A A BICR18_UPPER_AERODIGESTIVE_TRACT FAILED | |
| CDC42 998 GRCh37 1 22416608 22416608 + intron_variant Intron SNP A G rs1405778160 BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000344548.3:c.487-1313A>G p.*163* ENST00000344548 NM_001039802.1 SUCCESS | |
| CDC42 998 GRCh37 1 22416676 22416676 + intron_variant Intron SNP C A TE9_OESOPHAGUS ENST00000344548.3:c.487-1245C>A p.*163* ENST00000344548 NM_001039802.1 SUCCESS | |
| CDC42 998 GRCh37 1 22417923 22417923 + missense_variant,splice_region_variant Missense_Mutation SNP A T NCIH727_LUNG ENST00000344548.3:c.489A>T p.Lys163Asn p.K163N ENST00000344548 NM_001039802.1 163 aaA/aaT 7/7 SUCCESS | |
| CDC42 998 GRCh37 1 22417928 22417928 + missense_variant Missense_Mutation SNP T C KPL1_BREAST ENST00000344548.3:c.494T>C p.Leu165Pro p.L165P ENST00000344548 NM_001039802.1 165 cTa/cCa 7/7 SUCCESS | |
| CDC42 998 GRCh37 1 22417991 22417991 + missense_variant Missense_Mutation SNP G T BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000344548.3:c.557G>T p.Arg186Leu p.R186L ENST00000344548 NM_001039802.1 186 cGc/cTc 7/7 SUCCESS | |
| CDC42 998 GRCh37 1 22418014 22418014 + 3_prime_UTR_variant 3'UTR SNP T C BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000344548.3:c.*4T>C ENST00000344548 NM_001039802.1 7/7 SUCCESS | |
| CDC42 998 GRCh37 1 22418048 22418048 + 3_prime_UTR_variant 3'UTR SNP G A HEC151_ENDOMETRIUM ENST00000344548.3:c.*38G>A ENST00000344548 NM_001039802.1 7/7 SUCCESS | |
| CDC42 998 GRCh37 1 22418114 22418114 + 3_prime_UTR_variant 3'UTR SNP A C HEC251_ENDOMETRIUM ENST00000344548.3:c.*104A>C ENST00000344548 NM_001039802.1 7/7 SUCCESS | |
| EPHA8 2046 GRCh37 1 22895797 22895797 + missense_variant Missense_Mutation SNP C T rs200476235 HEC6_ENDOMETRIUM ENST00000166244.3:c.110C>T p.Thr37Met p.T37M ENST00000166244 NM_020526.3 37 aCg/aTg 2/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22902765 22902765 + missense_variant Missense_Mutation SNP T C COLO792_SKIN ENST00000166244.3:c.215T>C p.Val72Ala p.V72A ENST00000166244 NM_020526.3 72 gTt/gCt 3/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22902822 22902822 + missense_variant Missense_Mutation SNP G T JHH1_LIVER ENST00000166244.3:c.272G>T p.Arg91Leu p.R91L ENST00000166244 NM_020526.3 91 cGa/cTa 3/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22902822 22902822 + missense_variant Missense_Mutation SNP G A rs756576145 SNU407_LARGE_INTESTINE ENST00000166244.3:c.272G>A p.Arg91Gln p.R91Q ENST00000166244 NM_020526.3 91 cGa/cAa 3/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22902834 22902834 + missense_variant Missense_Mutation SNP G A rs148846897 M059K_CENTRAL_NERVOUS_SYSTEM ENST00000166244.3:c.284G>A p.Arg95Gln p.R95Q ENST00000166244 NM_020526.3 95 cGg/cAg 3/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22902919 22902919 + missense_variant Missense_Mutation SNP C A HCC1395_BREAST ENST00000166244.3:c.369C>A p.Asn123Lys p.N123K ENST00000166244 NM_020526.3 123 aaC/aaA 3/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22902977 22902977 + missense_variant Missense_Mutation SNP C T rs1333715861 NUGC4_STOMACH ENST00000166244.3:c.427C>T p.Leu143Phe p.L143F ENST00000166244 NM_020526.3 143 Ctc/Ttc 3/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22903017 22903017 + missense_variant Missense_Mutation SNP G A rs752266814 SNU878_LIVER ENST00000166244.3:c.467G>A p.Gly156Asp p.G156D ENST00000166244 NM_020526.3 156 gGt/gAt 3/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22903028 22903028 + missense_variant Missense_Mutation SNP G A rs370843084 MDAMB435S_SKIN ENST00000166244.3:c.478G>A p.Gly160Ser p.G160S ENST00000166244 NM_020526.3 160 Ggt/Agt 3/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22903061 22903061 + missense_variant Missense_Mutation SNP C T rs768851018 SNU1040_LARGE_INTESTINE ENST00000166244.3:c.511C>T p.Arg171Cys p.R171C ENST00000166244 NM_020526.3 171 Cgc/Tgc 3/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22903118 22903118 + missense_variant Missense_Mutation SNP G T rs768686298 JVM3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000166244.3:c.568G>T p.Ala190Ser p.A190S ENST00000166244 NM_020526.3 190 Gcc/Tcc 3/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22903143 22903143 + missense_variant Missense_Mutation SNP G T NCIH2009_LUNG ENST00000166244.3:c.593G>T p.Arg198Leu p.R198L ENST00000166244 NM_020526.3 198 cGc/cTc 3/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22903149 22903149 + missense_variant Missense_Mutation SNP A G KMRC1_KIDNEY ENST00000166244.3:c.599A>G p.Tyr200Cys p.Y200C ENST00000166244 NM_020526.3 200 tAc/tGc 3/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22903250 22903250 + missense_variant Missense_Mutation SNP G A rs556852015 MFE319_ENDOMETRIUM ENST00000166244.3:c.700G>A p.Val234Met p.V234M ENST00000166244 NM_020526.3 234 Gtg/Atg 3/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22903253 22903253 + missense_variant Missense_Mutation SNP C T rs748354273 MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000166244.3:c.703C>T p.Arg235Trp p.R235W ENST00000166244 NM_020526.3 235 Cgg/Tgg 3/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22915627 22915627 + missense_variant Missense_Mutation SNP G A rs539448650 LN18_CENTRAL_NERVOUS_SYSTEM ENST00000166244.3:c.1243G>A p.Val415Ile p.V415I ENST00000166244 NM_020526.3 415 Gtc/Atc 5/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22915654 22915654 + missense_variant Missense_Mutation SNP G A rs759275181 KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000166244.3:c.1270G>A p.Glu424Lys p.E424K ENST00000166244 NM_020526.3 424 Gag/Aag 5/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22915654 22915654 + missense_variant Missense_Mutation SNP G A rs759275181 MOLM16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000166244.3:c.1270G>A p.Glu424Lys p.E424K ENST00000166244 NM_020526.3 424 Gag/Aag 5/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22915654 22915654 + missense_variant Missense_Mutation SNP G A rs759275181 NCIH508_LARGE_INTESTINE ENST00000166244.3:c.1270G>A p.Glu424Lys p.E424K ENST00000166244 NM_020526.3 424 Gag/Aag 5/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22915661 22915661 + missense_variant Missense_Mutation SNP G A rs767109730 DU4475_BREAST ENST00000166244.3:c.1277G>A p.Arg426His p.R426H ENST00000166244 NM_020526.3 426 cGc/cAc 5/17 SUCCESS | |
| 1 22915892 22915895 TAAG TAAG HT144_SKIN FAILED | |
| 1 22915892 22915895 TAAG TAAG NCIH2405_LUNG FAILED | |
| EPHA8 2046 GRCh37 1 22915907 22915907 + intron_variant Intron SNP C A EN_ENDOMETRIUM ENST00000166244.3:c.1315+208C>A p.*439* ENST00000166244 NM_020526.3 SUCCESS | |
| EPHA8 2046 GRCh37 1 22915922 22915922 + intron_variant Intron SNP C T rs191606962 MCAS_OVARY ENST00000166244.3:c.1315+223C>T p.*439* ENST00000166244 NM_020526.3 SUCCESS | |
| EPHA8 2046 GRCh37 1 22915936 22915936 + intron_variant Intron SNP C T rs1009219237 HEC108_ENDOMETRIUM ENST00000166244.3:c.1315+237C>T p.*439* ENST00000166244 NM_020526.3 SUCCESS | |
| EPHA8 2046 GRCh37 1 22915966 22915966 + intron_variant Intron SNP T C SNU1040_LARGE_INTESTINE ENST00000166244.3:c.1315+267T>C p.*439* ENST00000166244 NM_020526.3 SUCCESS | |
| EPHA8 2046 GRCh37 1 22921753 22921753 + stop_gained Nonsense_Mutation SNP G A HT29_LARGE_INTESTINE ENST00000166244.3:c.1634G>A p.Trp545Ter p.W545* ENST00000166244 NM_020526.3 545 tGg/tAg 8/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22921754 22921754 + stop_gained Nonsense_Mutation SNP G A rs754998997 MELJUSO_SKIN ENST00000166244.3:c.1635G>A p.Trp545Ter p.W545* ENST00000166244 NM_020526.3 545 tgG/tgA 8/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22923835 22923836 + frameshift_variant Frame_Shift_Ins INS - C EN_ENDOMETRIUM ENST00000166244.3:c.1802dup p.Leu604AlafsTer31 p.L604Afs*31 ENST00000166244 NM_020526.3 599 cac/caCc 10/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22923837 22923837 + missense_variant Missense_Mutation SNP C T rs202243952 MUTZ3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000166244.3:c.1798C>T p.Pro600Ser p.P600S ENST00000166244 NM_020526.3 600 Ccc/Tcc 10/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22923863 22923863 + missense_variant Missense_Mutation SNP G T MKN74_STOMACH ENST00000166244.3:c.1824G>T p.Gln608His p.Q608H ENST00000166244 NM_020526.3 608 caG/caT 10/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22923904 22923904 + missense_variant Missense_Mutation SNP C T SNU175_LARGE_INTESTINE ENST00000166244.3:c.1865C>T p.Ala622Val p.A622V ENST00000166244 NM_020526.3 622 gCg/gTg 10/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22923904 22923904 + missense_variant Missense_Mutation SNP C T SNU869_BILIARY_TRACT ENST00000166244.3:c.1865C>T p.Ala622Val p.A622V ENST00000166244 NM_020526.3 622 gCg/gTg 10/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22923909 22923909 + missense_variant Missense_Mutation SNP C T rs1333072744 SNU407_LARGE_INTESTINE ENST00000166244.3:c.1870C>T p.Arg624Cys p.R624C ENST00000166244 NM_020526.3 624 Cgc/Tgc 10/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22923963 22923963 + missense_variant Missense_Mutation SNP G A rs536702821 NCIH1651_LUNG ENST00000166244.3:c.1924G>A p.Gly642Ser p.G642S ENST00000166244 NM_020526.3 642 Ggc/Agc 10/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22923971 22923971 + splice_donor_variant Splice_Site SNP T C EN_ENDOMETRIUM ENST00000166244.3:c.1930+2T>C p.X644_splice ENST00000166244 NM_020526.3 644 SUCCESS | |
| EPHA8 2046 GRCh37 1 22924177 22924177 + missense_variant Missense_Mutation SNP G A rs1468602131 SNU175_LARGE_INTESTINE ENST00000166244.3:c.1939G>A p.Gly647Arg p.G647R ENST00000166244 NM_020526.3 647 Ggg/Agg 11/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22924668 22924668 + missense_variant Missense_Mutation SNP A C HCT15_LARGE_INTESTINE ENST00000166244.3:c.2141A>C p.Glu714Ala p.E714A ENST00000166244 NM_020526.3 714 gAg/gCg 12/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22925404 22925404 + missense_variant Missense_Mutation SNP T C EN_ENDOMETRIUM ENST00000166244.3:c.2252T>C p.Leu751Pro p.L751P ENST00000166244 NM_020526.3 751 cTc/cCc 13/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22927203 22927203 + missense_variant Missense_Mutation SNP G A rs760332050 KYSE270_OESOPHAGUS ENST00000166244.3:c.2438G>A p.Arg813His p.R813H ENST00000166244 NM_020526.3 813 cGc/cAc 14/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22927203 22927203 + missense_variant Missense_Mutation SNP G A rs760332050 SNU719_STOMACH ENST00000166244.3:c.2438G>A p.Arg813His p.R813H ENST00000166244 NM_020526.3 813 cGc/cAc 14/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22927203 22927203 + missense_variant Missense_Mutation SNP G A rs760332050 SNU840_OVARY ENST00000166244.3:c.2438G>A p.Arg813His p.R813H ENST00000166244 NM_020526.3 813 cGc/cAc 14/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22927215 22927215 + missense_variant Missense_Mutation SNP C T rs755230170 HEC151_ENDOMETRIUM ENST00000166244.3:c.2450C>T p.Ser817Leu p.S817L ENST00000166244 NM_020526.3 817 tCg/tTg 14/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22927281 22927281 + missense_variant Missense_Mutation SNP A C NCIH1651_LUNG ENST00000166244.3:c.2516A>C p.Tyr839Ser p.Y839S ENST00000166244 NM_020526.3 839 tAc/tCc 14/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22927296 22927296 + missense_variant Missense_Mutation SNP A G KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000166244.3:c.2531A>G p.Asn844Ser p.N844S ENST00000166244 NM_020526.3 844 aAc/aGc 14/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22927430 22927430 + missense_variant Missense_Mutation SNP C G rs374551936 HLFA_LUNG ENST00000166244.3:c.2578C>G p.Pro860Ala p.P860A ENST00000166244 NM_020526.3 860 Ccc/Gcc 15/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22927434 22927434 + missense_variant Missense_Mutation SNP T G HT115_LARGE_INTESTINE ENST00000166244.3:c.2582T>G p.Met861Arg p.M861R ENST00000166244 NM_020526.3 861 aTg/aGg 15/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22927447 22927447 + missense_variant Missense_Mutation SNP C G PATU8902_PANCREAS ENST00000166244.3:c.2595C>G p.His865Gln p.H865Q ENST00000166244 NM_020526.3 865 caC/caG 15/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22927469 22927469 + missense_variant Missense_Mutation SNP G A rs755951383 NCIH2196_LUNG ENST00000166244.3:c.2617G>A p.Asp873Asn p.D873N ENST00000166244 NM_020526.3 873 Gac/Aac 15/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22927494 22927494 + missense_variant Missense_Mutation SNP A G NCIH1573_LUNG ENST00000166244.3:c.2642A>G p.Gln881Arg p.Q881R ENST00000166244 NM_020526.3 881 cAg/cGg 15/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22927502 22927502 + missense_variant Missense_Mutation SNP C T rs751222767 SCC25_UPPER_AERODIGESTIVE_TRACT ENST00000166244.3:c.2650C>T p.Arg884Cys p.R884C ENST00000166244 NM_020526.3 884 Cgc/Tgc 15/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22927870 22927870 + missense_variant Missense_Mutation SNP G T SW480_LARGE_INTESTINE ENST00000166244.3:c.2807G>T p.Gly936Val p.G936V ENST00000166244 NM_020526.3 936 gGg/gTg 16/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22927912 22927912 + missense_variant Missense_Mutation SNP A G SNU175_LARGE_INTESTINE ENST00000166244.3:c.2849A>G p.His950Arg p.H950R ENST00000166244 NM_020526.3 950 cAc/cGc 16/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22928223 22928223 + missense_variant Missense_Mutation SNP C T rs370302532 JJN3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000166244.3:c.3007C>T p.Arg1003Trp p.R1003W ENST00000166244 NM_020526.3 1003 Cgg/Tgg 17/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22928224 22928224 + missense_variant Missense_Mutation SNP G A rs374170042 HCC2157_BREAST ENST00000166244.3:c.3008G>A p.Arg1003Gln p.R1003Q ENST00000166244 NM_020526.3 1003 cGg/cAg 17/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22928224 22928224 + missense_variant Missense_Mutation SNP G A rs374170042 MFE319_ENDOMETRIUM ENST00000166244.3:c.3008G>A p.Arg1003Gln p.R1003Q ENST00000166244 NM_020526.3 1003 cGg/cAg 17/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22928286 22928286 + 3_prime_UTR_variant 3'UTR SNP A G HEC108_ENDOMETRIUM ENST00000166244.3:c.*52A>G ENST00000166244 NM_020526.3 17/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22928298 22928298 + 3_prime_UTR_variant 3'UTR SNP C T rs184945445 HEC265_ENDOMETRIUM ENST00000166244.3:c.*64C>T ENST00000166244 NM_020526.3 17/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22928298 22928298 + 3_prime_UTR_variant 3'UTR SNP C A TE1_OESOPHAGUS ENST00000166244.3:c.*64C>A ENST00000166244 NM_020526.3 17/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22928305 22928305 + 3_prime_UTR_variant 3'UTR SNP G T rs577285023 AGS_STOMACH ENST00000166244.3:c.*71G>T ENST00000166244 NM_020526.3 17/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22928305 22928305 + 3_prime_UTR_variant 3'UTR SNP G T rs577285023 BT549_BREAST ENST00000166244.3:c.*71G>T ENST00000166244 NM_020526.3 17/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22928305 22928305 + 3_prime_UTR_variant 3'UTR SNP G T rs577285023 COLO792_SKIN ENST00000166244.3:c.*71G>T ENST00000166244 NM_020526.3 17/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22928305 22928305 + 3_prime_UTR_variant 3'UTR SNP G T rs577285023 CORL95_LUNG ENST00000166244.3:c.*71G>T ENST00000166244 NM_020526.3 17/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22928305 22928305 + 3_prime_UTR_variant 3'UTR SNP G T rs577285023 COV362_OVARY ENST00000166244.3:c.*71G>T ENST00000166244 NM_020526.3 17/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22928305 22928305 + 3_prime_UTR_variant 3'UTR SNP G T rs577285023 DKMG_CENTRAL_NERVOUS_SYSTEM ENST00000166244.3:c.*71G>T ENST00000166244 NM_020526.3 17/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22928305 22928305 + 3_prime_UTR_variant 3'UTR SNP G T rs577285023 G361_SKIN ENST00000166244.3:c.*71G>T ENST00000166244 NM_020526.3 17/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22928305 22928305 + 3_prime_UTR_variant 3'UTR SNP G T rs577285023 HCC1187_BREAST ENST00000166244.3:c.*71G>T ENST00000166244 NM_020526.3 17/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22928305 22928305 + 3_prime_UTR_variant 3'UTR SNP G T rs577285023 OE19_OESOPHAGUS ENST00000166244.3:c.*71G>T ENST00000166244 NM_020526.3 17/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22928305 22928305 + 3_prime_UTR_variant 3'UTR SNP G T rs577285023 SKMEL28_SKIN ENST00000166244.3:c.*71G>T ENST00000166244 NM_020526.3 17/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22928305 22928305 + 3_prime_UTR_variant 3'UTR SNP G T rs577285023 ST486_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000166244.3:c.*71G>T ENST00000166244 NM_020526.3 17/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22928330 22928330 + 3_prime_UTR_variant 3'UTR SNP A G rs550869148 JHUEM2_ENDOMETRIUM ENST00000166244.3:c.*96A>G ENST00000166244 NM_020526.3 17/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22928330 22928330 + 3_prime_UTR_variant 3'UTR SNP A G rs550869148 KYSE450_OESOPHAGUS ENST00000166244.3:c.*96A>G ENST00000166244 NM_020526.3 17/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22928330 22928330 + 3_prime_UTR_variant 3'UTR SNP A G rs550869148 SNU423_LIVER ENST00000166244.3:c.*96A>G ENST00000166244 NM_020526.3 17/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22928381 22928381 + 3_prime_UTR_variant 3'UTR SNP G A MDAPCA2B_PROSTATE ENST00000166244.3:c.*147G>A ENST00000166244 NM_020526.3 17/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22928397 22928398 + 3_prime_UTR_variant 3'UTR DNP GG TT NCIH650_LUNG ENST00000166244.3:c.*163_*164delinsTT ENST00000166244 NM_020526.3 17/17 SUCCESS | |
| EPHA8 2046 GRCh37 1 22928402 22928402 + 3_prime_UTR_variant 3'UTR SNP A T HCC1359_LUNG ENST00000166244.3:c.*168A>T ENST00000166244 NM_020526.3 17/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23110928 23110928 + missense_variant Missense_Mutation SNP G A rs1159845464 HT115_LARGE_INTESTINE ENST00000400191.3:c.170G>A p.Arg57His p.R57H ENST00000400191 NM_004442.6 57 cGc/cAc 3/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23110996 23110996 + missense_variant Missense_Mutation SNP C T SNUC2A_LARGE_INTESTINE ENST00000400191.3:c.238C>T p.Arg80Cys p.R80C ENST00000400191 NM_004442.6 80 Cgc/Tgc 3/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23110999 23110999 + missense_variant Missense_Mutation SNP C T rs780811130 SNU349_KIDNEY ENST00000400191.3:c.241C>T p.Arg81Cys p.R81C ENST00000400191 NM_004442.6 81 Cgt/Tgt 3/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23111027 23111027 + missense_variant Missense_Mutation SNP T C CCK81_LARGE_INTESTINE ENST00000400191.3:c.269T>C p.Met90Thr p.M90T ENST00000400191 NM_004442.6 90 aTg/aCg 3/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23111153 23111153 + missense_variant Missense_Mutation SNP A C SNU1040_LARGE_INTESTINE ENST00000400191.3:c.395A>C p.Glu132Ala p.E132A ENST00000400191 NM_004442.6 132 gAg/gCg 3/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23111291 23111291 + missense_variant Missense_Mutation SNP T C NUGC4_STOMACH ENST00000400191.3:c.533T>C p.Phe178Ser p.F178S ENST00000400191 NM_004442.6 178 tTc/tCc 3/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23111306 23111306 + missense_variant Missense_Mutation SNP G A LS411N_LARGE_INTESTINE ENST00000400191.3:c.548G>A p.Gly183Asp p.G183D ENST00000400191 NM_004442.6 183 gGc/gAc 3/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23111371 23111371 + missense_variant Missense_Mutation SNP G A HEC6_ENDOMETRIUM ENST00000400191.3:c.613G>A p.Ala205Thr p.A205T ENST00000400191 NM_004442.6 205 Gcc/Acc 3/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23111555 23111555 + missense_variant Missense_Mutation SNP G A SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000400191.3:c.797G>A p.Gly266Asp p.G266D ENST00000400191 NM_004442.6 266 gGc/gAc 3/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23191382 23191382 + missense_variant Missense_Mutation SNP C T rs764789610 HEC1A_ENDOMETRIUM ENST00000400191.3:c.980C>T p.Ala327Val p.A327V ENST00000400191 NM_004442.6 327 gCg/gTg 5/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23191382 23191382 + missense_variant Missense_Mutation SNP C T rs764789610 HEC1B_ENDOMETRIUM ENST00000400191.3:c.980C>T p.Ala327Val p.A327V ENST00000400191 NM_004442.6 327 gCg/gTg 5/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23191423 23191423 + missense_variant Missense_Mutation SNP A G rs781369771 CCK81_LARGE_INTESTINE ENST00000400191.3:c.1021A>G p.Met341Val p.M341V ENST00000400191 NM_004442.6 341 Atg/Gtg 5/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23191430 23191430 + missense_variant Missense_Mutation SNP A G rs1017120256 HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000400191.3:c.1028A>G p.Glu343Gly p.E343G ENST00000400191 NM_004442.6 343 gAg/gGg 5/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23191471 23191471 + missense_variant Missense_Mutation SNP G A rs528777153 SNU1040_LARGE_INTESTINE ENST00000400191.3:c.1069G>A p.Val357Ile p.V357I ENST00000400191 NM_004442.6 357 Gtc/Atc 5/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23191519 23191519 + missense_variant Missense_Mutation SNP A G HEC108_ENDOMETRIUM ENST00000400191.3:c.1117A>G p.Thr373Ala p.T373A ENST00000400191 NM_004442.6 373 Acc/Gcc 5/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23191538 23191538 + missense_variant Missense_Mutation SNP T C rs1295335562 NUGC3_STOMACH ENST00000400191.3:c.1136T>C p.Val379Ala p.V379A ENST00000400191 NM_004442.6 379 gTa/gCa 5/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23191654 23191654 + missense_variant Missense_Mutation SNP A T MORCPR_LUNG ENST00000400191.3:c.1252A>T p.Ser418Cys p.S418C ENST00000400191 NM_004442.6 418 Agc/Tgc 5/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23191657 23191657 + missense_variant Missense_Mutation SNP C T KYSE410_OESOPHAGUS ENST00000400191.3:c.1255C>T p.Pro419Ser p.P419S ENST00000400191 NM_004442.6 419 Ccc/Tcc 5/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23191674 23191674 + missense_variant Missense_Mutation SNP C G rs778869890 786O_KIDNEY ENST00000400191.3:c.1272C>G p.Phe424Leu p.F424L ENST00000400191 NM_004442.6 424 ttC/ttG 5/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23208941 23208941 + missense_variant Missense_Mutation SNP G A rs371215652 SNU407_LARGE_INTESTINE ENST00000400191.3:c.1393G>A p.Val465Met p.V465M ENST00000400191 NM_004442.6 465 Gtg/Atg 6/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23208959 23208959 + missense_variant Missense_Mutation SNP C A HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000400191.3:c.1411C>A p.Leu471Met p.L471M ENST00000400191 NM_004442.6 471 Ctg/Atg 6/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23219395 23219395 + missense_variant Missense_Mutation SNP G A rs576616864 639V_URINARY_TRACT ENST00000400191.3:c.1447G>A p.Ala483Thr p.A483T ENST00000400191 NM_004442.6 483 Gcc/Acc 7/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23219407 23219407 + missense_variant Missense_Mutation SNP A G NCIH441_LUNG ENST00000400191.3:c.1459A>G p.Lys487Glu p.K487E ENST00000400191 NM_004442.6 487 Aaa/Gaa 7/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23219425 23219425 + missense_variant Missense_Mutation SNP G A MOLP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000400191.3:c.1477G>A p.Val493Ile p.V493I ENST00000400191 NM_004442.6 493 Gtc/Atc 7/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23219431 23219431 + missense_variant Missense_Mutation SNP G A rs201691912 OE21_OESOPHAGUS ENST00000400191.3:c.1483G>A p.Val495Met p.V495M ENST00000400191 NM_004442.6 495 Gtg/Atg 7/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23219438 23219438 + missense_variant Missense_Mutation SNP G T NCIH2073_LUNG ENST00000400191.3:c.1490G>T p.Gly497Val p.G497V ENST00000400191 NM_004442.6 497 gGc/gTc 7/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23219509 23219509 + missense_variant Missense_Mutation SNP G A rs953288463 SNUC2A_LARGE_INTESTINE ENST00000400191.3:c.1561G>A p.Gly521Ser p.G521S ENST00000400191 NM_004442.6 521 Ggc/Agc 7/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23222016 23222016 + missense_variant Missense_Mutation SNP C T rs760460779 JHUEM7_ENDOMETRIUM ENST00000400191.3:c.1643C>T p.Ser548Leu p.S548L ENST00000400191 NM_004442.6 548 tCg/tTg 8/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23222908 23222908 + missense_variant,splice_region_variant Missense_Mutation SNP C T rs200219468 KS1_CENTRAL_NERVOUS_SYSTEM ENST00000400191.3:c.1702C>T p.Arg568Trp p.R568W ENST00000400191 NM_004442.6 568 Cgg/Tgg 9/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23222921 23222921 + missense_variant Missense_Mutation SNP G A rs772642109 CW2_LARGE_INTESTINE ENST00000400191.3:c.1715G>A p.Arg572His p.R572H ENST00000400191 NM_004442.6 572 cGt/cAt 9/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23222930 23222930 + stop_gained Nonsense_Mutation SNP C A rs146071874 NCIH1623_LUNG ENST00000400191.3:c.1724C>A p.Ser575Ter p.S575* ENST00000400191 NM_004442.6 575 tCg/tAg 9/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23232543 23232543 + missense_variant Missense_Mutation SNP G A rs773475701 HEC1A_ENDOMETRIUM ENST00000400191.3:c.1829G>A p.Arg610Gln p.R610Q ENST00000400191 NM_004442.6 610 cGg/cAg 10/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23232543 23232543 + missense_variant Missense_Mutation SNP G A rs773475701 HEC1B_ENDOMETRIUM ENST00000400191.3:c.1829G>A p.Arg610Gln p.R610Q ENST00000400191 NM_004442.6 610 cGg/cAg 10/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23233275 23233275 + missense_variant Missense_Mutation SNP C T AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000400191.3:c.1961C>T p.Thr654Met p.T654M ENST00000400191 NM_004442.6 654 aCg/aTg 11/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23233303 23233303 + missense_variant Missense_Mutation SNP G T KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000400191.3:c.1989G>T p.Gln663His p.Q663H ENST00000400191 NM_004442.6 663 caG/caT 11/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23233304 23233304 + missense_variant Missense_Mutation SNP C T rs1172063792 ESS1_ENDOMETRIUM ENST00000400191.3:c.1990C>T p.Arg664Cys p.R664C ENST00000400191 NM_004442.6 664 Cgc/Tgc 11/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23233379 23233379 + missense_variant Missense_Mutation SNP G A rs372886782 HEC265_ENDOMETRIUM ENST00000400191.3:c.2065G>A p.Val689Met p.V689M ENST00000400191 NM_004442.6 689 Gtg/Atg 11/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23233448 23233448 + missense_variant,splice_region_variant Missense_Mutation SNP C T rs375886598 COLO680N_OESOPHAGUS ENST00000400191.3:c.2134C>T p.Arg712Trp p.R712W ENST00000400191 NM_004442.6 712 Cgg/Tgg 11/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23233449 23233449 + missense_variant,splice_region_variant Missense_Mutation SNP G A rs150002185 HCT15_LARGE_INTESTINE ENST00000400191.3:c.2135G>A p.Arg712Gln p.R712Q ENST00000400191 NM_004442.6 712 cGg/cAg 11/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23234473 23234473 + stop_gained Nonsense_Mutation SNP C T rs121912582 DU145_PROSTATE ENST00000400191.3:c.2164C>T p.Gln722Ter p.Q722* ENST00000400191 NM_004442.6 722 Cag/Tag 12/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23236972 23236972 + missense_variant Missense_Mutation SNP G A rs1228368009 HEC59_ENDOMETRIUM ENST00000400191.3:c.2600G>A p.Arg867His p.R867H ENST00000400191 NM_004442.6 867 cGc/cAc 14/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23236992 23236992 + missense_variant Missense_Mutation SNP G A rs774876763 22RV1_PROSTATE ENST00000400191.3:c.2620G>A p.Gly874Ser p.G874S ENST00000400191 NM_004442.6 874 Ggc/Agc 14/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23237026 23237026 + missense_variant Missense_Mutation SNP G A rs746925117 HEC1B_ENDOMETRIUM ENST00000400191.3:c.2654G>A p.Arg885His p.R885H ENST00000400191 NM_004442.6 885 cGc/cAc 14/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23237026 23237026 + missense_variant Missense_Mutation SNP G A rs746925117 KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000400191.3:c.2654G>A p.Arg885His p.R885H ENST00000400191 NM_004442.6 885 cGc/cAc 14/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23237029 23237029 + missense_variant Missense_Mutation SNP A G RERFLCAD2_LUNG ENST00000400191.3:c.2657A>G p.Asn886Ser p.N886S ENST00000400191 NM_004442.6 886 aAt/aGt 14/17 SUCCESS | |
| 1 23237042 23237042 C C CAPAN1_PANCREAS FAILED | |
| EPHB2 2048 GRCh37 1 23239960 23239960 + missense_variant Missense_Mutation SNP T C HEC265_ENDOMETRIUM ENST00000400191.3:c.2858T>C p.Ile953Thr p.I953T ENST00000400191 NM_004442.6 953 aTt/aCt 16/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23240019 23240019 + missense_variant Missense_Mutation SNP G A rs768013471 SNUC5_LARGE_INTESTINE ENST00000400191.3:c.2917G>A p.Val973Met p.V973M ENST00000400191 NM_004442.6 973 Gtg/Atg 16/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23240026 23240026 + missense_variant Missense_Mutation SNP G A rs142146570 CW2_LARGE_INTESTINE ENST00000400191.3:c.2924G>A p.Arg975Gln p.R975Q ENST00000400191 NM_004442.6 975 cGg/cAg 16/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23240026 23240026 + missense_variant Missense_Mutation SNP G T HEC6_ENDOMETRIUM ENST00000400191.3:c.2924G>T p.Arg975Leu p.R975L ENST00000400191 NM_004442.6 975 cGg/cTg 16/17 SUCCESS | |
| EPHB2 2048 GRCh37 1 23240094 23240094 + intron_variant Intron SNP C T rs2124152128 SNUC5_LARGE_INTESTINE ENST00000400191.3:c.2955+37C>T p.*985* ENST00000400191 NM_004442.6 SUCCESS | |
| EPHB2 2048 GRCh37 1 23240115 23240115 + intron_variant Intron SNP C T COV434_OVARY ENST00000400191.3:c.2956-36C>T p.*986* ENST00000400191 NM_004442.6 SUCCESS | |
| EPHB2 2048 GRCh37 1 23240264 23240264 + synonymous_variant Silent SNP A G SCC15_UPPER_AERODIGESTIVE_TRACT ENST00000400191.3:c.3069A>G p.Gly1023= p.G1023= ENST00000400191 NM_004442.6 1023 ggA/ggG 17/17 SUCCESS | |
| PDIK1L 149420 GRCh37 1 26440827 26440827 + missense_variant Missense_Mutation SNP C A rs200676760 SNU1041_UPPER_AERODIGESTIVE_TRACT ENST00000374269.1:c.28C>A p.Leu10Ile p.L10I ENST00000374269 10 Cta/Ata 2/3 SUCCESS | |
| PDIK1L 149420 GRCh37 1 26440855 26440855 + missense_variant Missense_Mutation SNP A G EN_ENDOMETRIUM ENST00000374269.1:c.56A>G p.Tyr19Cys p.Y19C ENST00000374269 19 tAc/tGc 2/3 SUCCESS | |
| PDIK1L 149420 GRCh37 1 26440918 26440918 + missense_variant Missense_Mutation SNP G T rs141659218 KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000374269.1:c.119G>T p.Arg40Leu p.R40L ENST00000374269 40 cGa/cTa 2/3 SUCCESS | |
| PDIK1L 149420 GRCh37 1 26448542 26448542 + missense_variant Missense_Mutation SNP C A RKO_LARGE_INTESTINE ENST00000374269.1:c.500C>A p.Pro167His p.P167H ENST00000374269 167 cCt/cAt 3/3 SUCCESS | |
| PDIK1L 149420 GRCh37 1 26448589 26448589 + stop_gained Nonsense_Mutation SNP G T FADU_UPPER_AERODIGESTIVE_TRACT ENST00000374269.1:c.547G>T p.Glu183Ter p.E183* ENST00000374269 183 Gaa/Taa 3/3 SUCCESS | |
| PDIK1L 149420 GRCh37 1 26448883 26448883 + missense_variant Missense_Mutation SNP G A 697_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000374269.1:c.841G>A p.Glu281Lys p.E281K ENST00000374269 281 Gag/Aag 3/3 SUCCESS | |
| PDIK1L 149420 GRCh37 1 26448949 26448949 + stop_gained Nonsense_Mutation SNP C T rs1400924432 SKUT1_SOFT_TISSUE ENST00000374269.1:c.907C>T p.Arg303Ter p.R303* ENST00000374269 303 Cga/Tga 3/3 SUCCESS | |
| PDIK1L 149420 GRCh37 1 26449025 26449025 + missense_variant Missense_Mutation SNP G T MFE319_ENDOMETRIUM ENST00000374269.1:c.983G>T p.Arg328Ile p.R328I ENST00000374269 328 aGa/aTa 3/3 SUCCESS | |
| PDIK1L 149420 GRCh37 1 26449075 26449075 + 3_prime_UTR_variant 3'UTR SNP T C rs775548871 JHUEM7_ENDOMETRIUM ENST00000374269.1:c.*7T>C ENST00000374269 3/3 SUCCESS | |
| PDIK1L 149420 GRCh37 1 26449075 26449075 + 3_prime_UTR_variant 3'UTR SNP T C rs775548871 OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000374269.1:c.*7T>C ENST00000374269 3/3 SUCCESS | |
| PDIK1L 149420 GRCh37 1 26449195 26449196 + 3_prime_UTR_variant 3'UTR INS - T rs967135271 CW2_LARGE_INTESTINE ENST00000374269.1:c.*137dup ENST00000374269 3/3 SUCCESS | |
| PDIK1L 149420 GRCh37 1 26449195 26449196 + 3_prime_UTR_variant 3'UTR INS - T rs967135271 SNU1040_LARGE_INTESTINE ENST00000374269.1:c.*137dup ENST00000374269 3/3 SUCCESS | |
| PDIK1L 149420 GRCh37 1 26449195 26449196 + 3_prime_UTR_variant 3'UTR INS - T rs967135271 SNU840_OVARY ENST00000374269.1:c.*137dup ENST00000374269 3/3 SUCCESS | |
| 1 26449196 26449196 T T CCK81_LARGE_INTESTINE FAILED | |
| 1 26449196 26449196 T T CL34_LARGE_INTESTINE FAILED | |
| 1 26449196 26449196 T T DU145_PROSTATE FAILED | |
| 1 26449196 26449196 T T DV90_LUNG FAILED | |
| 1 26449196 26449196 T T HCT116_LARGE_INTESTINE FAILED | |
| 1 26449196 26449196 T T HCT15_LARGE_INTESTINE FAILED | |
| 1 26449196 26449196 T T HEC151_ENDOMETRIUM FAILED | |
| 1 26449196 26449196 T T HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 26449196 26449196 T T IM95_STOMACH FAILED | |
| 1 26449196 26449196 T T JHUEM2_ENDOMETRIUM FAILED | |
| 1 26449196 26449196 T T KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 26449196 26449196 T T LS180_LARGE_INTESTINE FAILED | |
| 1 26449196 26449196 T T NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 26449196 26449196 T T SNU349_KIDNEY FAILED | |
| 1 26449196 26449196 T T SNU407_LARGE_INTESTINE FAILED | |
| 1 26449196 26449196 T T SNU520_STOMACH FAILED | |
| 1 26449196 26449196 T T SNUC4_LARGE_INTESTINE FAILED | |
| 1 26449196 26449196 T T SNUC5_LARGE_INTESTINE FAILED | |
| 1 26449196 26449196 T T TGBC11TKB_STOMACH FAILED | |
| PDIK1L 149420 GRCh37 1 26449233 26449233 + 3_prime_UTR_variant 3'UTR SNP C T rs150405114 2313287_STOMACH ENST00000374269.1:c.*165C>T ENST00000374269 3/3 SUCCESS | |
| PDIK1L 149420 GRCh37 1 26449233 26449233 + 3_prime_UTR_variant 3'UTR SNP C T rs150405114 D341MED_CENTRAL_NERVOUS_SYSTEM ENST00000374269.1:c.*165C>T ENST00000374269 3/3 SUCCESS | |
| PDIK1L 149420 GRCh37 1 26449233 26449233 + 3_prime_UTR_variant 3'UTR SNP C T rs150405114 HS940T_SKIN ENST00000374269.1:c.*165C>T ENST00000374269 3/3 SUCCESS | |
| PDIK1L 149420 GRCh37 1 26449233 26449233 + 3_prime_UTR_variant 3'UTR SNP C T rs150405114 KPL1_BREAST ENST00000374269.1:c.*165C>T ENST00000374269 3/3 SUCCESS | |
| PDIK1L 149420 GRCh37 1 26449233 26449233 + 3_prime_UTR_variant 3'UTR SNP C T rs150405114 PANC0327_PANCREAS ENST00000374269.1:c.*165C>T ENST00000374269 3/3 SUCCESS | |
| PDIK1L 149420 GRCh37 1 26449233 26449233 + 3_prime_UTR_variant 3'UTR SNP C T rs150405114 PATU8902_PANCREAS ENST00000374269.1:c.*165C>T ENST00000374269 3/3 SUCCESS | |
| PDIK1L 149420 GRCh37 1 26449233 26449233 + 3_prime_UTR_variant 3'UTR SNP C T rs150405114 RL952_ENDOMETRIUM ENST00000374269.1:c.*165C>T ENST00000374269 3/3 SUCCESS | |
| PDIK1L 149420 GRCh37 1 26449233 26449233 + 3_prime_UTR_variant 3'UTR SNP C T rs150405114 SUDHL5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000374269.1:c.*165C>T ENST00000374269 3/3 SUCCESS | |
| PDIK1L 149420 GRCh37 1 26449307 26449307 + 3_prime_UTR_variant 3'UTR SNP T G SNU81_LARGE_INTESTINE ENST00000374269.1:c.*239T>G ENST00000374269 3/3 SUCCESS | |
| 1 26449336 26449337 AA AA NCIH841_LUNG FAILED | |
| RPS6KA1 6195 GRCh37 1 26863418 26863418 + splice_region_variant,synonymous_variant Splice_Region SNP T C rs574836970 KATOIII_STOMACH ENST00000374168.2:c.66T>C p.X22_splice ENST00000374168 NM_002953.3 22 aaT/aaC 2/22 SUCCESS | |
| RPS6KA1 6195 GRCh37 1 26873403 26873403 + missense_variant Missense_Mutation SNP G C CORL23_LUNG ENST00000374168.2:c.154G>C p.Ala52Pro p.A52P ENST00000374168 NM_002953.3 52 Gct/Cct 3/22 SUCCESS | |
| RPS6KA1 6195 GRCh37 1 26873463 26873463 + missense_variant Missense_Mutation SNP T G rs1448044472 JHH7_LIVER ENST00000374168.2:c.214T>G p.Ser72Ala p.S72A ENST00000374168 NM_002953.3 72 Tcc/Gcc 3/22 SUCCESS | |
| RPS6KA1 6195 GRCh37 1 26873753 26873753 + missense_variant Missense_Mutation SNP C T rs761298409 BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000374168.2:c.299C>T p.Thr100Met p.T100M ENST00000374168 NM_002953.3 100 aCg/aTg 4/22 SUCCESS | |
| RPS6KA1 6195 GRCh37 1 26879919 26879920 + missense_variant Missense_Mutation DNP CT TC CAL33_UPPER_AERODIGESTIVE_TRACT ENST00000374168.2:c.506_507delinsTC p.Ala169Val p.A169V ENST00000374168 NM_002953.3 169 gCT/gTC 7/22 SUCCESS | |
| RPS6KA1 6195 GRCh37 1 26879954 26879954 + missense_variant Missense_Mutation SNP C A SNU1040_LARGE_INTESTINE ENST00000374168.2:c.541C>A p.Leu181Met p.L181M ENST00000374168 NM_002953.3 181 Ctg/Atg 7/22 SUCCESS | |
| RPS6KA1 6195 GRCh37 1 26879972 26879972 + missense_variant Missense_Mutation SNP G A HT115_LARGE_INTESTINE ENST00000374168.2:c.559G>A p.Asp187Asn p.D187N ENST00000374168 NM_002953.3 187 Gac/Aac 7/22 SUCCESS | |
| RPS6KA1 6195 GRCh37 1 26881179 26881179 + missense_variant Missense_Mutation SNP C T rs774322176 GP2D_LARGE_INTESTINE ENST00000374168.2:c.706C>T p.Arg236Cys p.R236C ENST00000374168 NM_002953.3 236 Cgc/Tgc 9/22 SUCCESS | |
| RPS6KA1 6195 GRCh37 1 26883150 26883150 + missense_variant Missense_Mutation SNP G T NCIH1930_LUNG ENST00000374168.2:c.922G>T p.Gly308Cys p.G308C ENST00000374168 NM_002953.3 308 Ggc/Tgc 12/22 SUCCESS | |
| RPS6KA1 6195 GRCh37 1 26883492 26883492 + missense_variant Missense_Mutation SNP C A CAL78_BONE ENST00000374168.2:c.985C>A p.Leu329Ile p.L329I ENST00000374168 NM_002953.3 329 Cta/Ata 13/22 SUCCESS | |
| RPS6KA1 6195 GRCh37 1 26887264 26887264 + missense_variant Missense_Mutation SNP G T KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000374168.2:c.1263G>T p.Lys421Asn p.K421N ENST00000374168 NM_002953.3 421 aaG/aaT 15/22 SUCCESS | |
| RPS6KA1 6195 GRCh37 1 26887302 26887302 + missense_variant Missense_Mutation SNP G A rs1328908968 SW1783_CENTRAL_NERVOUS_SYSTEM ENST00000374168.2:c.1301G>A p.Arg434His p.R434H ENST00000374168 NM_002953.3 434 cGc/cAc 15/22 SUCCESS | |
| RPS6KA1 6195 GRCh37 1 26887320 26887320 + missense_variant Missense_Mutation SNP C A SF295_CENTRAL_NERVOUS_SYSTEM ENST00000374168.2:c.1319C>A p.Thr440Asn p.T440N ENST00000374168 NM_002953.3 440 aCc/aAc 15/22 SUCCESS | |
| RPS6KA1 6195 GRCh37 1 26888009 26888009 + missense_variant Missense_Mutation SNP G A EN_ENDOMETRIUM ENST00000374168.2:c.1445G>A p.Gly482Asp p.G482D ENST00000374168 NM_002953.3 482 gGc/gAc 17/22 SUCCESS | |
| RPS6KA1 6195 GRCh37 1 26898010 26898010 + missense_variant Missense_Mutation SNP G A rs1312651014 MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000374168.2:c.1661G>A p.Arg554His p.R554H ENST00000374168 NM_002953.3 554 cGc/cAc 18/22 SUCCESS | |
| RPS6KA1 6195 GRCh37 1 26898349 26898349 + missense_variant Missense_Mutation SNP C T rs764643915 SNU1_STOMACH ENST00000374168.2:c.1762C>T p.Arg588Cys p.R588C ENST00000374168 NM_002953.3 588 Cgc/Tgc 19/22 SUCCESS | |
| RPS6KA1 6195 GRCh37 1 26898373 26898373 + missense_variant Missense_Mutation SNP G A rs1182900783 JHUEM7_ENDOMETRIUM ENST00000374168.2:c.1786G>A p.Asp596Asn p.D596N ENST00000374168 NM_002953.3 596 Gac/Aac 19/22 SUCCESS | |
| RPS6KA1 6195 GRCh37 1 26898400 26898400 + missense_variant Missense_Mutation SNP T C HEC108_ENDOMETRIUM ENST00000374168.2:c.1813T>C p.Tyr605His p.Y605H ENST00000374168 NM_002953.3 605 Tac/Cac 19/22 SUCCESS | |
| RPS6KA1 6195 GRCh37 1 26898416 26898416 + missense_variant,splice_region_variant Missense_Mutation SNP G T NCIH2342_LUNG ENST00000374168.2:c.1829G>T p.Gly610Val p.G610V ENST00000374168 NM_002953.3 610 gGa/gTa 19/22 SUCCESS | |
| RPS6KA1 6195 GRCh37 1 26898422 26898422 + splice_region_variant,intron_variant Splice_Region SNP T C 22RV1_PROSTATE ENST00000374168.2:c.1829+6T>C p.X610_splice ENST00000374168 NM_002953.3 610 SUCCESS | |
| RPS6KA1 6195 GRCh37 1 26898438 26898438 + intron_variant Intron SNP C T rs368405678 LS123_LARGE_INTESTINE ENST00000374168.2:c.1829+22C>T p.*610* ENST00000374168 NM_002953.3 SUCCESS | |
| RPS6KA1 6195 GRCh37 1 26898527 26898527 + intron_variant Intron SNP G T JHUEM7_ENDOMETRIUM ENST00000374168.2:c.1829+111G>T p.*610* ENST00000374168 NM_002953.3 SUCCESS | |
| RPS6KA1 6195 GRCh37 1 26898587 26898587 + intron_variant Intron SNP G A G361_SKIN ENST00000374168.2:c.1830-80G>A p.*610* ENST00000374168 NM_002953.3 SUCCESS | |
| RPS6KA1 6195 GRCh37 1 26898720 26898720 + missense_variant Missense_Mutation SNP G A rs149093867 SKUT1_SOFT_TISSUE ENST00000374168.2:c.1883G>A p.Arg628Gln p.R628Q ENST00000374168 NM_002953.3 628 cGg/cAg 20/22 SUCCESS | |
| RPS6KA1 6195 GRCh37 1 26898722 26898722 + missense_variant Missense_Mutation SNP A G rs201508654 OSRC2_KIDNEY ENST00000374168.2:c.1885A>G p.Ile629Val p.I629V ENST00000374168 NM_002953.3 629 Atc/Gtc 20/22 SUCCESS | |
| RPS6KA1 6195 GRCh37 1 26899778 26899778 + stop_gained Nonsense_Mutation SNP C T MDAMB453_BREAST ENST00000374168.2:c.2011C>T p.Gln671Ter p.Q671* ENST00000374168 NM_002953.3 671 Cag/Tag 21/22 SUCCESS | |
| RPS6KA1 6195 GRCh37 1 26900660 26900660 + stop_gained Nonsense_Mutation SNP C T HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000374168.2:c.2176C>T p.Arg726Ter p.R726* ENST00000374168 NM_002953.3 726 Cga/Tga 22/22 SUCCESS | |
| ARID1A 8289 GRCh37 1 27023425 27023425 + missense_variant Missense_Mutation SNP A T SUDHL5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000324856.7:c.531A>T p.Gln177His p.Q177H ENST00000324856 NM_006015.4 177 caA/caT 1/20 SUCCESS | |
| 1 27023451 27023464 GCGGCGGCGGCGGG GCGGCGGCGGCGGG HT1376_URINARY_TRACT FAILED | |
| ARID1A 8289 GRCh37 1 27023501 27023502 + frameshift_variant Frame_Shift_Ins INS - A OVISE_OVARY ENST00000324856.7:c.608dup p.His203GlnfsTer197 p.H203Qfs*197 ENST00000324856 NM_006015.4 203 cac/cAac 1/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27023528 27023528 + missense_variant Missense_Mutation SNP T C HEC108_ENDOMETRIUM ENST00000324856.7:c.634T>C p.Tyr212His p.Y212H ENST00000324856 NM_006015.4 212 Tac/Cac 1/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27023651 27023651 + missense_variant Missense_Mutation SNP C T rs754650765 SHP77_LUNG ENST00000324856.7:c.757C>T p.Pro253Ser p.P253S ENST00000324856 NM_006015.4 253 Ccc/Tcc 1/20 SUCCESS | |
| 1 27023716 27023716 G G IGROV1_OVARY FAILED | |
| 1 27023716 27023716 G G MFE296_ENDOMETRIUM FAILED | |
| 1 27023716 27023716 G G SKUT1_SOFT_TISSUE FAILED | |
| ARID1A 8289 GRCh37 1 27023720 27023720 + stop_gained Nonsense_Mutation SNP G T NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000324856.7:c.826G>T p.Gly276Ter p.G276* ENST00000324856 NM_006015.4 276 Gga/Tga 1/20 SUCCESS | |
| 1 27023744 27023744 G G EFO27_OVARY FAILED | |
| 1 27023744 27023744 G G LNCAPCLONEFGC_PROSTATE FAILED | |
| ARID1A 8289 GRCh37 1 27023747 27023747 + stop_gained Nonsense_Mutation SNP G T SUDHL5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000324856.7:c.853G>T p.Gly285Ter p.G285* ENST00000324856 NM_006015.4 285 Gga/Tga 1/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27056057 27056058 + intron_variant Intron INS - A rs1341953366 YH13_CENTRAL_NERVOUS_SYSTEM ENST00000324856.7:c.1138-78dup p.*380* ENST00000324856 NM_006015.4 SUCCESS | |
| 1 27056080 27056081 TA TA NCIH810_LUNG FAILED | |
| ARID1A 8289 GRCh37 1 27056127 27056127 + intron_variant Intron SNP C T SNU81_LARGE_INTESTINE ENST00000324856.7:c.1138-15C>T p.*380* ENST00000324856 NM_006015.4 SUCCESS | |
| ARID1A 8289 GRCh37 1 27056216 27056216 + missense_variant Missense_Mutation SNP A T HEC1A_ENDOMETRIUM ENST00000324856.7:c.1212A>T p.Gln404His p.Q404H ENST00000324856 NM_006015.4 404 caA/caT 2/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27056278 27056278 + missense_variant Missense_Mutation SNP A G FTC238_THYROID ENST00000324856.7:c.1274A>G p.Gln425Arg p.Q425R ENST00000324856 NM_006015.4 425 cAg/cGg 2/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27056286 27056286 + stop_gained Nonsense_Mutation SNP C T HEC59_ENDOMETRIUM ENST00000324856.7:c.1282C>T p.Gln428Ter p.Q428* ENST00000324856 NM_006015.4 428 Cag/Tag 2/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27057712 27057712 + stop_gained Nonsense_Mutation SNP C T RI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000324856.7:c.1420C>T p.Gln474Ter p.Q474* ENST00000324856 NM_006015.4 474 Caa/Taa 3/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27057904 27057904 + stop_gained Nonsense_Mutation SNP C T HS766T_PANCREAS ENST00000324856.7:c.1612C>T p.Gln538Ter p.Q538* ENST00000324856 NM_006015.4 538 Cag/Tag 3/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27057936 27057937 + frameshift_variant Frame_Shift_Ins INS - C rs1415146710 TOV21G_OVARY ENST00000324856.7:c.1650dup p.Tyr551LeufsTer72 p.Y551Lfs*72 ENST00000324856 NM_006015.4 548 -/C 3/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27057947 27057947 + stop_gained Nonsense_Mutation SNP C G VMCUB1_URINARY_TRACT ENST00000324856.7:c.1655C>G p.Ser552Ter p.S552* ENST00000324856 NM_006015.4 552 tCa/tGa 3/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27057949 27057949 + missense_variant Missense_Mutation SNP C G rs750699988 L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000324856.7:c.1657C>G p.Gln553Glu p.Q553E ENST00000324856 NM_006015.4 553 Cag/Gag 3/20 SUCCESS | |
| 1 27057967 27057968 CC CC OAW42_OVARY FAILED | |
| ARID1A 8289 GRCh37 1 27057975 27057975 + missense_variant Missense_Mutation SNP G C KM12_LARGE_INTESTINE ENST00000324856.7:c.1683G>C p.Gln561His p.Q561H ENST00000324856 NM_006015.4 561 caG/caC 3/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27058007 27058007 + missense_variant Missense_Mutation SNP C T rs778345898 PANC0203_PANCREAS ENST00000324856.7:c.1715C>T p.Thr572Met p.T572M ENST00000324856 NM_006015.4 572 aCg/aTg 3/20 SUCCESS | |
| 1 27058045 27058047 CAG CAG JIMT1_BREAST FAILED | |
| ARID1A 8289 GRCh37 1 27058048 27058048 + stop_gained Nonsense_Mutation SNP C T SKOV3_OVARY ENST00000324856.7:c.1756C>T p.Gln586Ter p.Q586* ENST00000324856 NM_006015.4 586 Cag/Tag 3/20 SUCCESS | |
| 1 27058064 27058064 C C OVK18_OVARY FAILED | |
| ARID1A 8289 GRCh37 1 27059203 27059203 + missense_variant Missense_Mutation SNP T G rs771633906 BDCM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000324856.7:c.1840T>G p.Ser614Ala p.S614A ENST00000324856 NM_006015.4 614 Tca/Gca 4/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27059230 27059230 + stop_gained Nonsense_Mutation SNP G T rs267598525 SNU423_LIVER ENST00000324856.7:c.1867G>T p.Gly623Ter p.G623* ENST00000324856 NM_006015.4 623 Gga/Tga 4/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27059267 27059267 + missense_variant Missense_Mutation SNP G A EJM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000324856.7:c.1904G>A p.Arg635Lys p.R635K ENST00000324856 NM_006015.4 635 aGa/aAa 4/20 SUCCESS | |
| 1 27059284 27059287 GTGA GTGA SW1088_CENTRAL_NERVOUS_SYSTEM FAILED | |
| ARID1A 8289 GRCh37 1 27087345 27087345 + splice_acceptor_variant Splice_Site SNP A G CHAGOK1_LUNG ENST00000324856.7:c.1921-2A>G p.X641_splice ENST00000324856 NM_006015.4 641 SUCCESS | |
| 1 27087373 27087373 C C RL952_ENDOMETRIUM FAILED | |
| ARID1A 8289 GRCh37 1 27087476 27087476 + missense_variant Missense_Mutation SNP C G CHAGOK1_LUNG ENST00000324856.7:c.2050C>G p.His684Asp p.H684D ENST00000324856 NM_006015.4 684 Cat/Gat 5/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27087503 27087503 + stop_gained Nonsense_Mutation SNP C T RL952_ENDOMETRIUM ENST00000324856.7:c.2077C>T p.Arg693Ter p.R693* ENST00000324856 NM_006015.4 693 Cga/Tga 5/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27087516 27087516 + missense_variant Missense_Mutation SNP C T rs370916036 HCC2279_LUNG ENST00000324856.7:c.2090C>T p.Pro697Leu p.P697L ENST00000324856 NM_006015.4 697 cCg/cTg 5/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27087528 27087528 + missense_variant Missense_Mutation SNP G C SW948_LARGE_INTESTINE ENST00000324856.7:c.2102G>C p.Gly701Ala p.G701A ENST00000324856 NM_006015.4 701 gGc/gCc 5/20 SUCCESS | |
| 1 27088659 27088659 C C TOV21G_OVARY FAILED | |
| ARID1A 8289 GRCh37 1 27088666 27088666 + missense_variant Missense_Mutation SNP A G HUH28_BILIARY_TRACT ENST00000324856.7:c.2275A>G p.Met759Val p.M759V ENST00000324856 NM_006015.4 759 Atg/Gtg 7/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27088682 27088682 + missense_variant Missense_Mutation SNP C T rs984459719 COLO792_SKIN ENST00000324856.7:c.2291C>T p.Ser764Phe p.S764F ENST00000324856 NM_006015.4 764 tCc/tTc 7/20 SUCCESS | |
| 1 27088682 27088682 C C NCIH1436_LUNG FAILED | |
| 1 27088682 27088682 C C SNUC5_LARGE_INTESTINE FAILED | |
| ARID1A 8289 GRCh37 1 27088711 27088711 + missense_variant Missense_Mutation SNP C T rs1466882490 JHUEM1_ENDOMETRIUM ENST00000324856.7:c.2320C>T p.Arg774Cys p.R774C ENST00000324856 NM_006015.4 774 Cgt/Tgt 7/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27088711 27088711 + missense_variant Missense_Mutation SNP C T rs1466882490 SNU1040_LARGE_INTESTINE ENST00000324856.7:c.2320C>T p.Arg774Cys p.R774C ENST00000324856 NM_006015.4 774 Cgt/Tgt 7/20 SUCCESS | |
| 1 27089496 27089496 T T OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| ARID1A 8289 GRCh37 1 27089633 27089633 + missense_variant Missense_Mutation SNP G T RERFLCAD2_LUNG ENST00000324856.7:c.2589G>T p.Met863Ile p.M863I ENST00000324856 NM_006015.4 863 atG/atT 8/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27089696 27089696 + stop_gained Nonsense_Mutation SNP T A NCIH1793_LUNG ENST00000324856.7:c.2652T>A p.Cys884Ter p.C884* ENST00000324856 NM_006015.4 884 tgT/tgA 8/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27089776 27089777 + frameshift_variant,splice_region_variant Frame_Shift_Ins INS - GT JMSU1_URINARY_TRACT ENST00000324856.7:c.2732+1_2732+2dup p.R911fs ENST00000324856 NM_006015.4 911 agg/agGTg SUCCESS | |
| ARID1A 8289 GRCh37 1 27092726 27092726 + missense_variant Missense_Mutation SNP C T NCIH2106_LUNG ENST00000324856.7:c.2747C>T p.Pro916Leu p.P916L ENST00000324856 NM_006015.4 916 cCc/cTc 9/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27092757 27092758 + stop_gained Nonsense_Mutation DNP TG CT NCIH2286_LUNG ENST00000324856.7:c.2778_2779delinsCT p.Gly927Ter p.G927* ENST00000324856 NM_006015.4 926 acTGga/acCTga 9/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27092809 27092809 + stop_gained Nonsense_Mutation SNP C T T47D_BREAST ENST00000324856.7:c.2830C>T p.Gln944Ter p.Q944* ENST00000324856 NM_006015.4 944 Cag/Tag 9/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27092849 27092849 + missense_variant Missense_Mutation SNP A G rs758593161 PK59_PANCREAS ENST00000324856.7:c.2870A>G p.Asn957Ser p.N957S ENST00000324856 NM_006015.4 957 aAt/aGt 9/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27092965 27092965 + missense_variant Missense_Mutation SNP G A 639V_URINARY_TRACT ENST00000324856.7:c.2896G>A p.Glu966Lys p.E966K ENST00000324856 NM_006015.4 966 Gag/Aag 10/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27092965 27092965 + missense_variant Missense_Mutation SNP G A NCIH2110_LUNG ENST00000324856.7:c.2896G>A p.Glu966Lys p.E966K ENST00000324856 NM_006015.4 966 Gag/Aag 10/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27094448 27094448 + stop_gained Nonsense_Mutation SNP T G KU1919_URINARY_TRACT ENST00000324856.7:c.3156T>G p.Tyr1052Ter p.Y1052* ENST00000324856 NM_006015.4 1052 taT/taG 11/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27094465 27094465 + missense_variant Missense_Mutation SNP T G MDAMB361_BREAST ENST00000324856.7:c.3173T>G p.Val1058Gly p.V1058G ENST00000324856 NM_006015.4 1058 gTg/gGg 11/20 SUCCESS | |
| 1 27097622 27097622 A A GP2D_LARGE_INTESTINE FAILED | |
| 1 27097688 27097688 A A EN_ENDOMETRIUM FAILED | |
| 1 27097688 27097688 A A LS180_LARGE_INTESTINE FAILED | |
| 1 27097708 27097709 TC TC JHUEM2_ENDOMETRIUM FAILED | |
| ARID1A 8289 GRCh37 1 27097737 27097737 + missense_variant Missense_Mutation SNP G A RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000324856.7:c.3326G>A p.Arg1109Gln p.R1109Q ENST00000324856 NM_006015.4 1109 cGg/cAg 12/20 SUCCESS | |
| 1 27097751 27097751 C C RKO_LARGE_INTESTINE FAILED | |
| ARID1A 8289 GRCh37 1 27097780 27097780 + synonymous_variant Silent SNP C T HEC59_ENDOMETRIUM ENST00000324856.7:c.3369C>T p.Ser1123= p.S1123= ENST00000324856 NM_006015.4 1123 tcC/tcT 12/20 SUCCESS | |
| 1 27097801 27097801 C C OCUM1_STOMACH FAILED | |
| ARID1A 8289 GRCh37 1 27099014 27099014 + missense_variant Missense_Mutation SNP C A CCFSTTG1_CENTRAL_NERVOUS_SYSTEM ENST00000324856.7:c.3430C>A p.Pro1144Thr p.P1144T ENST00000324856 NM_006015.4 1144 Ccc/Acc 13/20 SUCCESS | |
| 1 27099103 27099103 C C REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| ARID1A 8289 GRCh37 1 27099311 27099311 + missense_variant Missense_Mutation SNP A G SNU761_LIVER ENST00000324856.7:c.3548A>G p.Asn1183Ser p.N1183S ENST00000324856 NM_006015.4 1183 aAt/aGt 14/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27099396 27099396 + synonymous_variant Silent SNP T C BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000324856.7:c.3633T>C p.Tyr1211= p.Y1211= ENST00000324856 NM_006015.4 1211 taT/taC 14/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27099397 27099397 + stop_gained Nonsense_Mutation SNP C T LOXIMVI_SKIN ENST00000324856.7:c.3634C>T p.Gln1212Ter p.Q1212* ENST00000324856 NM_006015.4 1212 Cag/Tag 14/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27099397 27099397 + stop_gained Nonsense_Mutation SNP C T MDAMB134VI_BREAST ENST00000324856.7:c.3634C>T p.Gln1212Ter p.Q1212* ENST00000324856 NM_006015.4 1212 Cag/Tag 14/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27099433 27099433 + missense_variant Missense_Mutation SNP A G rs776451390 JHUEM7_ENDOMETRIUM ENST00000324856.7:c.3670A>G p.Met1224Val p.M1224V ENST00000324856 NM_006015.4 1224 Atg/Gtg 14/20 SUCCESS | |
| 1 27099874 27099874 C C SKLU1_LUNG FAILED | |
| ARID1A 8289 GRCh37 1 27099885 27099885 + missense_variant Missense_Mutation SNP G A rs1085307923 COV434_OVARY ENST00000324856.7:c.3764G>A p.Gly1255Glu p.G1255E ENST00000324856 NM_006015.4 1255 gGg/gAg 15/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27099904 27099904 + synonymous_variant Silent SNP T C HEC251_ENDOMETRIUM ENST00000324856.7:c.3783T>C p.Ser1261= p.S1261= ENST00000324856 NM_006015.4 1261 agT/agC 15/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27099937 27099937 + synonymous_variant Silent SNP G A rs763151089 SNUC4_LARGE_INTESTINE ENST00000324856.7:c.3816G>A p.Ala1272= p.A1272= ENST00000324856 NM_006015.4 1272 gcG/gcA 15/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27099947 27099947 + stop_gained Nonsense_Mutation SNP C T CAL51_BREAST ENST00000324856.7:c.3826C>T p.Arg1276Ter p.R1276* ENST00000324856 NM_006015.4 1276 Cga/Tga 15/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27099952 27099952 + synonymous_variant Silent SNP G A SNU175_LARGE_INTESTINE ENST00000324856.7:c.3831G>A p.Gln1277= p.Q1277= ENST00000324856 NM_006015.4 1277 caG/caA 15/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27099961 27099961 + synonymous_variant Silent SNP C A EFO27_OVARY ENST00000324856.7:c.3840C>A p.Pro1280= p.P1280= ENST00000324856 NM_006015.4 1280 ccC/ccA 15/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27100123 27100123 + missense_variant Missense_Mutation SNP C T rs1403660255 HEC108_ENDOMETRIUM ENST00000324856.7:c.3919C>T p.Pro1307Ser p.P1307S ENST00000324856 NM_006015.4 1307 Ccg/Tcg 16/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27100173 27100173 + synonymous_variant Silent SNP C A HEC1A_ENDOMETRIUM ENST00000324856.7:c.3969C>A p.Arg1323= p.R1323= ENST00000324856 NM_006015.4 1323 cgC/cgA 16/20 SUCCESS | |
| 1 27100176 27100176 C C 22RV1_PROSTATE FAILED | |
| 1 27100176 27100176 C C LS411N_LARGE_INTESTINE FAILED | |
| ARID1A 8289 GRCh37 1 27100181 27100182 + inframe_insertion In_Frame_Ins INS - GCA rs374564889 SNU449_LIVER ENST00000324856.7:c.3999_4001dup p.Gln1334dup p.Q1334dup ENST00000324856 NM_006015.4 1334 ccg/ccGCAg 16/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27100198 27100198 + stop_gained Nonsense_Mutation SNP C T OVMANA_OVARY ENST00000324856.7:c.3994C>T p.Gln1332Ter p.Q1332* ENST00000324856 NM_006015.4 1332 Cag/Tag 16/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27100390 27100390 + splice_donor_variant Splice_Site SNP G T MHHNB11_AUTONOMIC_GANGLIA ENST00000324856.7:c.4101+1G>T p.X1367_splice ENST00000324856 NM_006015.4 1367 SUCCESS | |
| ARID1A 8289 GRCh37 1 27100888 27100888 + synonymous_variant Silent SNP C T rs1457106923 SNU175_LARGE_INTESTINE ENST00000324856.7:c.4170C>T p.Ser1390= p.S1390= ENST00000324856 NM_006015.4 1390 agC/agT 18/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27100949 27100949 + stop_gained Nonsense_Mutation SNP C T NCIH1563_LUNG ENST00000324856.7:c.4231C>T p.Gln1411Ter p.Q1411* ENST00000324856 NM_006015.4 1411 Cag/Tag 18/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27101006 27101006 + stop_gained Nonsense_Mutation SNP C T A2780_OVARY ENST00000324856.7:c.4288C>T p.Gln1430Ter p.Q1430* ENST00000324856 NM_006015.4 1430 Cag/Tag 18/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27101022 27101022 + missense_variant Missense_Mutation SNP A G rs369118235 HS618T_LUNG ENST00000324856.7:c.4304A>G p.Tyr1435Cys p.Y1435C ENST00000324856 NM_006015.4 1435 tAt/tGt 18/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27101054 27101054 + stop_gained Nonsense_Mutation SNP C T HEC108_ENDOMETRIUM ENST00000324856.7:c.4336C>T p.Arg1446Ter p.R1446* ENST00000324856 NM_006015.4 1446 Cga/Tga 18/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27101085 27101085 + missense_variant Missense_Mutation SNP C T SKMEL28_SKIN ENST00000324856.7:c.4367C>T p.Pro1456Leu p.P1456L ENST00000324856 NM_006015.4 1456 cCa/cTa 18/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27101088 27101088 + missense_variant Missense_Mutation SNP T C rs1357085488 PECAPJ49_UPPER_AERODIGESTIVE_TRACT ENST00000324856.7:c.4370T>C p.Phe1457Ser p.F1457S ENST00000324856 NM_006015.4 1457 tTc/tCc 18/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27101090 27101090 + stop_gained Nonsense_Mutation SNP C T SNU216_STOMACH ENST00000324856.7:c.4372C>T p.Gln1458Ter p.Q1458* ENST00000324856 NM_006015.4 1458 Cag/Tag 18/20 SUCCESS | |
| 1 27101117 27101117 C C HEC265_ENDOMETRIUM FAILED | |
| ARID1A 8289 GRCh37 1 27101164 27101164 + synonymous_variant Silent SNP C T rs752354591 BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000324856.7:c.4446C>T p.Gly1482= p.G1482= ENST00000324856 NM_006015.4 1482 ggC/ggT 18/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27101167 27101167 + synonymous_variant Silent SNP C G BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000324856.7:c.4449C>G p.Gly1483= p.G1483= ENST00000324856 NM_006015.4 1483 ggC/ggG 18/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27101200 27101200 + synonymous_variant Silent SNP A G BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000324856.7:c.4482A>G p.Gln1494= p.Q1494= ENST00000324856 NM_006015.4 1494 caA/caG 18/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27101215 27101215 + synonymous_variant Silent SNP G A rs762663996 TEN_ENDOMETRIUM ENST00000324856.7:c.4497G>A p.Gln1499= p.Q1499= ENST00000324856 NM_006015.4 1499 caG/caA 18/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27101236 27101236 + synonymous_variant Silent SNP T C rs764124825 BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000324856.7:c.4518T>C p.Tyr1506= p.Y1506= ENST00000324856 NM_006015.4 1506 taT/taC 18/20 SUCCESS | |
| 1 27101259 27101259 C C P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 27101268 27101268 C C SNU1_STOMACH FAILED | |
| 1 27101402 27101402 C C SW48_LARGE_INTESTINE FAILED | |
| ARID1A 8289 GRCh37 1 27101425 27101425 + synonymous_variant Silent SNP A C YD10B_UPPER_AERODIGESTIVE_TRACT ENST00000324856.7:c.4707A>C p.Pro1569= p.P1569= ENST00000324856 NM_006015.4 1569 ccA/ccC 18/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27101434 27101434 + synonymous_variant Silent SNP C T rs777068095 MFE319_ENDOMETRIUM ENST00000324856.7:c.4716C>T p.Tyr1572= p.Y1572= ENST00000324856 NM_006015.4 1572 taC/taT 18/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27101445 27101445 + missense_variant Missense_Mutation SNP C T MFE319_ENDOMETRIUM ENST00000324856.7:c.4727C>T p.Pro1576Leu p.P1576L ENST00000324856 NM_006015.4 1576 cCa/cTa 18/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27101454 27101454 + missense_variant Missense_Mutation SNP A C BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000324856.7:c.4736A>C p.Gln1579Pro p.Q1579P ENST00000324856 NM_006015.4 1579 cAg/cCg 18/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27101509 27101509 + synonymous_variant Silent SNP C T SNUC2A_LARGE_INTESTINE ENST00000324856.7:c.4791C>T p.Asn1597= p.N1597= ENST00000324856 NM_006015.4 1597 aaC/aaT 18/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27101590 27101590 + synonymous_variant Silent SNP C T KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000324856.7:c.4872C>T p.His1624= p.H1624= ENST00000324856 NM_006015.4 1624 caC/caT 18/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27101662 27101663 + frameshift_variant Frame_Shift_Ins INS - A BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000324856.7:c.4945dup p.Thr1649AsnfsTer49 p.T1649Nfs*49 ENST00000324856 NM_006015.4 1648 -/A 18/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27101691 27101691 + missense_variant Missense_Mutation SNP G A rs1035870857 A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000324856.7:c.4973G>A p.Arg1658Gln p.R1658Q ENST00000324856 NM_006015.4 1658 cGg/cAg 18/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27102317 27102317 + intron_variant Intron SNP A T rs1159016950 NCIH2291_LUNG ENST00000324856.7:c.5124+119A>T p.*1708* ENST00000324856 NM_006015.4 SUCCESS | |
| ARID1A 8289 GRCh37 1 27102350 27102350 + intron_variant Intron SNP C T rs542371299 MUTZ5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000324856.7:c.5124+152C>T p.*1708* ENST00000324856 NM_006015.4 SUCCESS | |
| ARID1A 8289 GRCh37 1 27102365 27102365 + intron_variant Intron SNP G C PCM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000324856.7:c.5124+167G>C p.*1708* ENST00000324856 NM_006015.4 SUCCESS | |
| 1 27105549 27105549 C C NCIH2172_LUNG FAILED | |
| 1 27105551 27105551 G G A2780_OVARY FAILED | |
| ARID1A 8289 GRCh37 1 27105553 27105553 + stop_gained Nonsense_Mutation SNP C T rs1485978447 EFO27_OVARY ENST00000324856.7:c.5164C>T p.Arg1722Ter p.R1722* ENST00000324856 NM_006015.4 1722 Cga/Tga 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27105609 27105609 + synonymous_variant Silent SNP A T CORL23_LUNG ENST00000324856.7:c.5220A>T p.Gly1740= p.G1740= ENST00000324856 NM_006015.4 1740 ggA/ggT 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27105670 27105670 + missense_variant Missense_Mutation SNP G T rs766067889 HEC1A_ENDOMETRIUM ENST00000324856.7:c.5281G>T p.Gly1761Cys p.G1761C ENST00000324856 NM_006015.4 1761 Ggt/Tgt 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27105670 27105670 + missense_variant Missense_Mutation SNP G T rs766067889 HEC1B_ENDOMETRIUM ENST00000324856.7:c.5281G>T p.Gly1761Cys p.G1761C ENST00000324856 NM_006015.4 1761 Ggt/Tgt 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27105886 27105886 + missense_variant Missense_Mutation SNP C T rs372213935 NCIH1581_LUNG ENST00000324856.7:c.5497C>T p.Arg1833Cys p.R1833C ENST00000324856 NM_006015.4 1833 Cgt/Tgt 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27105892 27105892 + stop_gained Nonsense_Mutation SNP C T HEC1A_ENDOMETRIUM ENST00000324856.7:c.5503C>T p.Gln1835Ter p.Q1835* ENST00000324856 NM_006015.4 1835 Cag/Tag 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27105892 27105892 + stop_gained Nonsense_Mutation SNP C T HEC1B_ENDOMETRIUM ENST00000324856.7:c.5503C>T p.Gln1835Ter p.Q1835* ENST00000324856 NM_006015.4 1835 Cag/Tag 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27105923 27105923 + missense_variant Missense_Mutation SNP G A rs764024862 CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000324856.7:c.5534G>A p.Arg1845Gln p.R1845Q ENST00000324856 NM_006015.4 1845 cGg/cAg 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27105930 27105931 + frameshift_variant Frame_Shift_Ins INS - G rs758608743 22RV1_PROSTATE ENST00000324856.7:c.5548dup p.Asp1850GlyfsTer4 p.D1850Gfs*4 ENST00000324856 NM_006015.4 1847 -/G 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27105930 27105931 + frameshift_variant Frame_Shift_Ins INS - G rs758608743 EN_ENDOMETRIUM ENST00000324856.7:c.5548dup p.Asp1850GlyfsTer4 p.D1850Gfs*4 ENST00000324856 NM_006015.4 1847 -/G 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27105930 27105931 + frameshift_variant Frame_Shift_Ins INS - G rs758608743 IGROV1_OVARY ENST00000324856.7:c.5548dup p.Asp1850GlyfsTer4 p.D1850Gfs*4 ENST00000324856 NM_006015.4 1847 -/G 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27105930 27105931 + frameshift_variant Frame_Shift_Ins INS - G rs758608743 IM95_STOMACH ENST00000324856.7:c.5548dup p.Asp1850GlyfsTer4 p.D1850Gfs*4 ENST00000324856 NM_006015.4 1847 -/G 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27105930 27105931 + frameshift_variant Frame_Shift_Ins INS - G rs758608743 JHUEM2_ENDOMETRIUM ENST00000324856.7:c.5548dup p.Asp1850GlyfsTer4 p.D1850Gfs*4 ENST00000324856 NM_006015.4 1847 -/G 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27105930 27105931 + frameshift_variant Frame_Shift_Ins INS - G rs758608743 KM12_LARGE_INTESTINE ENST00000324856.7:c.5548dup p.Asp1850GlyfsTer4 p.D1850Gfs*4 ENST00000324856 NM_006015.4 1847 -/G 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27105930 27105931 + frameshift_variant Frame_Shift_Ins INS - G rs758608743 NCIH1869_LUNG ENST00000324856.7:c.5548dup p.Asp1850GlyfsTer4 p.D1850Gfs*4 ENST00000324856 NM_006015.4 1847 -/G 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27105930 27105931 + frameshift_variant Frame_Shift_Ins INS - G rs758608743 NUGC3_STOMACH ENST00000324856.7:c.5548dup p.Asp1850GlyfsTer4 p.D1850Gfs*4 ENST00000324856 NM_006015.4 1847 -/G 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27105930 27105931 + frameshift_variant Frame_Shift_Ins INS - G rs758608743 SNU1_STOMACH ENST00000324856.7:c.5548dup p.Asp1850GlyfsTer4 p.D1850Gfs*4 ENST00000324856 NM_006015.4 1847 -/G 20/20 SUCCESS | |
| 1 27105931 27105931 G G AN3CA_ENDOMETRIUM FAILED | |
| 1 27105931 27105931 G G CAL51_BREAST FAILED | |
| 1 27105931 27105931 G G DV90_LUNG FAILED | |
| 1 27105931 27105931 G G HEC6_ENDOMETRIUM FAILED | |
| 1 27105931 27105931 G G RKO_LARGE_INTESTINE FAILED | |
| 1 27105931 27105931 G G SNGM_ENDOMETRIUM FAILED | |
| ARID1A 8289 GRCh37 1 27105949 27105949 + missense_variant Missense_Mutation SNP C T GP2D_LARGE_INTESTINE ENST00000324856.7:c.5560C>T p.His1854Tyr p.H1854Y ENST00000324856 NM_006015.4 1854 Cat/Tat 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27105974 27105974 + missense_variant Missense_Mutation SNP A G SNU175_LARGE_INTESTINE ENST00000324856.7:c.5585A>G p.Lys1862Arg p.K1862R ENST00000324856 NM_006015.4 1862 aAg/aGg 20/20 SUCCESS | |
| 1 27106010 27106017 GCCCACCA GCCCACCA NCIH838_LUNG FAILED | |
| 1 27106100 27106100 A A SNU324_PANCREAS FAILED | |
| ARID1A 8289 GRCh37 1 27106208 27106208 + missense_variant Missense_Mutation SNP C T rs773088565 MIAPACA2_PANCREAS ENST00000324856.7:c.5819C>T p.Pro1940Leu p.P1940L ENST00000324856 NM_006015.4 1940 cCa/cTa 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27106260 27106260 + missense_variant Missense_Mutation SNP C G NCIH810_LUNG ENST00000324856.7:c.5871C>G p.Asp1957Glu p.D1957E ENST00000324856 NM_006015.4 1957 gaC/gaG 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27106354 27106354 + stop_gained Nonsense_Mutation SNP C T rs879255270 JHUEM7_ENDOMETRIUM ENST00000324856.7:c.5965C>T p.Arg1989Ter p.R1989* ENST00000324856 NM_006015.4 1989 Cga/Tga 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27106354 27106354 + stop_gained Nonsense_Mutation SNP C T rs879255270 KYSE70_OESOPHAGUS ENST00000324856.7:c.5965C>T p.Arg1989Ter p.R1989* ENST00000324856 NM_006015.4 1989 Cga/Tga 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27106518 27106519 + missense_variant Missense_Mutation DNP CA TG BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000324856.7:c.6129_6130inv p.Asn2044Asp p.N2044D ENST00000324856 NM_006015.4 2043 tgCAac/tgTGac 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27106582 27106582 + missense_variant Missense_Mutation SNP G A rs1359226978 SNU81_LARGE_INTESTINE ENST00000324856.7:c.6193G>A p.Ala2065Thr p.A2065T ENST00000324856 NM_006015.4 2065 Gcc/Acc 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27106603 27106603 + missense_variant Missense_Mutation SNP G C PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000324856.7:c.6214G>C p.Asp2072His p.D2072H ENST00000324856 NM_006015.4 2072 Gac/Cac 20/20 SUCCESS | |
| 1 27106630 27106633 TGCC TGCC 2313287_STOMACH FAILED | |
| ARID1A 8289 GRCh37 1 27106709 27106710 + frameshift_variant Frame_Shift_Ins INS - C JHUEM1_ENDOMETRIUM ENST00000324856.7:c.6324dup p.Asn2109GlnfsTer41 p.N2109Qfs*41 ENST00000324856 NM_006015.4 2107 ggc/ggCc 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27106720 27106720 + missense_variant Missense_Mutation SNP G A rs770028290 HEC251_ENDOMETRIUM ENST00000324856.7:c.6331G>A p.Val2111Ile p.V2111I ENST00000324856 NM_006015.4 2111 Gtc/Atc 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27106732 27106732 + stop_gained Nonsense_Mutation SNP C T HEC1A_ENDOMETRIUM ENST00000324856.7:c.6343C>T p.Gln2115Ter p.Q2115* ENST00000324856 NM_006015.4 2115 Cag/Tag 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27106732 27106732 + stop_gained Nonsense_Mutation SNP C T HEC1B_ENDOMETRIUM ENST00000324856.7:c.6343C>T p.Gln2115Ter p.Q2115* ENST00000324856 NM_006015.4 2115 Cag/Tag 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27106778 27106778 + missense_variant Missense_Mutation SNP A G HCC1569_BREAST ENST00000324856.7:c.6389A>G p.Asn2130Ser p.N2130S ENST00000324856 NM_006015.4 2130 aAc/aGc 20/20 SUCCESS | |
| 1 27106789 27106794 CTGATT CTGATT NCIH460_LUNG FAILED | |
| ARID1A 8289 GRCh37 1 27106803 27106804 + frameshift_variant Frame_Shift_Ins INS - C KP3_PANCREAS ENST00000324856.7:c.6420dup p.Phe2141LeufsTer9 p.F2141Lfs*9 ENST00000324856 NM_006015.4 2138 -/C 20/20 SUCCESS | |
| 1 27106804 27106804 C C ISHIKAWAHERAKLIO02ER_ENDOMETRIUM FAILED | |
| 1 27106804 27106804 C C LOVO_LARGE_INTESTINE FAILED | |
| 1 27106804 27106804 C C SNGM_ENDOMETRIUM FAILED | |
| ARID1A 8289 GRCh37 1 27106916 27106917 + frameshift_variant Frame_Shift_Ins INS - G OV56_OVARY ENST00000324856.7:c.6532dup p.Asp2178GlyfsTer47 p.D2178Gfs*47 ENST00000324856 NM_006015.4 2176 cag/caGg 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27106967 27106967 + missense_variant Missense_Mutation SNP G A HEC108_ENDOMETRIUM ENST00000324856.7:c.6578G>A p.Gly2193Asp p.G2193D ENST00000324856 NM_006015.4 2193 gGc/gAc 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107035 27107035 + missense_variant Missense_Mutation SNP C T BICR56_UPPER_AERODIGESTIVE_TRACT ENST00000324856.7:c.6646C>T p.Leu2216Phe p.L2216F ENST00000324856 NM_006015.4 2216 Ctc/Ttc 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107083 27107083 + missense_variant Missense_Mutation SNP C T JHUEM7_ENDOMETRIUM ENST00000324856.7:c.6694C>T p.Arg2232Trp p.R2232W ENST00000324856 NM_006015.4 2232 Cgg/Tgg 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107105 27107105 + missense_variant Missense_Mutation SNP T C PANC0203_PANCREAS ENST00000324856.7:c.6716T>C p.Leu2239Pro p.L2239P ENST00000324856 NM_006015.4 2239 cTt/cCt 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107135 27107136 + frameshift_variant Frame_Shift_Ins INS - A SNU449_LIVER ENST00000324856.7:c.6747dup p.Glu2250ArgfsTer28 p.E2250Rfs*28 ENST00000324856 NM_006015.4 2249 tca/tcAa 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107180 27107180 + stop_gained Nonsense_Mutation SNP C G OVMANA_OVARY ENST00000324856.7:c.6791C>G p.Ser2264Ter p.S2264* ENST00000324856 NM_006015.4 2264 tCa/tGa 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107204 27107204 + stop_gained Nonsense_Mutation SNP C A HEC251_ENDOMETRIUM ENST00000324856.7:c.6815C>A p.Ser2272Ter p.S2272* ENST00000324856 NM_006015.4 2272 tCa/tAa 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107219 27107219 + missense_variant Missense_Mutation SNP A G MFE319_ENDOMETRIUM ENST00000324856.7:c.6830A>G p.Asp2277Gly p.D2277G ENST00000324856 NM_006015.4 2277 gAt/gGt 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107263 27107264 + 3_prime_UTR_variant 3'UTR INS - C rs3841356 ALLSIL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000324856.7:c.*25dup ENST00000324856 NM_006015.4 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107263 27107264 + 3_prime_UTR_variant 3'UTR INS - C rs3841356 COLO829_SKIN ENST00000324856.7:c.*25dup ENST00000324856 NM_006015.4 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107263 27107264 + 3_prime_UTR_variant 3'UTR INS - C rs3841356 EPLC272H_LUNG ENST00000324856.7:c.*25dup ENST00000324856 NM_006015.4 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107263 27107264 + 3_prime_UTR_variant 3'UTR INS - C rs3841356 FTC133_THYROID ENST00000324856.7:c.*25dup ENST00000324856 NM_006015.4 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107263 27107264 + 3_prime_UTR_variant 3'UTR INS - C rs3841356 FTC238_THYROID ENST00000324856.7:c.*25dup ENST00000324856 NM_006015.4 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107263 27107264 + 3_prime_UTR_variant 3'UTR INS - C rs3841356 GAMG_CENTRAL_NERVOUS_SYSTEM ENST00000324856.7:c.*25dup ENST00000324856 NM_006015.4 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107263 27107264 + 3_prime_UTR_variant 3'UTR INS - C rs3841356 GCT_SOFT_TISSUE ENST00000324856.7:c.*25dup ENST00000324856 NM_006015.4 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107263 27107264 + 3_prime_UTR_variant 3'UTR INS - C rs3841356 GOS3_CENTRAL_NERVOUS_SYSTEM ENST00000324856.7:c.*25dup ENST00000324856 NM_006015.4 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107263 27107264 + 3_prime_UTR_variant 3'UTR INS - C rs3841356 HDMYZ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000324856.7:c.*25dup ENST00000324856 NM_006015.4 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107263 27107264 + 3_prime_UTR_variant 3'UTR INS - C rs3841356 HS578T_BREAST ENST00000324856.7:c.*25dup ENST00000324856 NM_006015.4 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107263 27107264 + 3_prime_UTR_variant 3'UTR INS - C rs3841356 HUH7_LIVER ENST00000324856.7:c.*25dup ENST00000324856 NM_006015.4 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107263 27107264 + 3_prime_UTR_variant 3'UTR INS - C rs3841356 JJN3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000324856.7:c.*25dup ENST00000324856 NM_006015.4 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107263 27107264 + 3_prime_UTR_variant 3'UTR INS - C rs3841356 KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000324856.7:c.*25dup ENST00000324856 NM_006015.4 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107263 27107264 + 3_prime_UTR_variant 3'UTR INS - C rs3841356 LOUCY_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000324856.7:c.*25dup ENST00000324856 NM_006015.4 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107263 27107264 + 3_prime_UTR_variant 3'UTR INS - C rs3841356 MJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000324856.7:c.*25dup ENST00000324856 NM_006015.4 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107263 27107264 + 3_prime_UTR_variant 3'UTR INS - C rs3841356 MPP89_PLEURA ENST00000324856.7:c.*25dup ENST00000324856 NM_006015.4 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107263 27107264 + 3_prime_UTR_variant 3'UTR INS - C rs3841356 NCIH1299_LUNG ENST00000324856.7:c.*25dup ENST00000324856 NM_006015.4 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107263 27107264 + 3_prime_UTR_variant 3'UTR INS - C rs3841356 NCIH1792_LUNG ENST00000324856.7:c.*25dup ENST00000324856 NM_006015.4 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107263 27107264 + 3_prime_UTR_variant 3'UTR INS - C rs3841356 NCIH2023_LUNG ENST00000324856.7:c.*25dup ENST00000324856 NM_006015.4 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107263 27107264 + 3_prime_UTR_variant 3'UTR INS - C rs3841356 NCIH510_LUNG ENST00000324856.7:c.*25dup ENST00000324856 NM_006015.4 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107263 27107264 + 3_prime_UTR_variant 3'UTR INS - C rs3841356 NCIH661_LUNG ENST00000324856.7:c.*25dup ENST00000324856 NM_006015.4 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107263 27107264 + 3_prime_UTR_variant 3'UTR INS - C rs3841356 REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000324856.7:c.*25dup ENST00000324856 NM_006015.4 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107263 27107264 + 3_prime_UTR_variant 3'UTR INS - C rs3841356 RT4_URINARY_TRACT ENST00000324856.7:c.*25dup ENST00000324856 NM_006015.4 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107263 27107264 + 3_prime_UTR_variant 3'UTR INS - C rs3841356 SCC9_UPPER_AERODIGESTIVE_TRACT ENST00000324856.7:c.*25dup ENST00000324856 NM_006015.4 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107263 27107264 + 3_prime_UTR_variant 3'UTR INS - C rs3841356 SF295_CENTRAL_NERVOUS_SYSTEM ENST00000324856.7:c.*25dup ENST00000324856 NM_006015.4 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107263 27107264 + 3_prime_UTR_variant 3'UTR INS - C rs3841356 SKMEL5_SKIN ENST00000324856.7:c.*25dup ENST00000324856 NM_006015.4 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107263 27107264 + 3_prime_UTR_variant 3'UTR INS - C rs3841356 SNU1040_LARGE_INTESTINE ENST00000324856.7:c.*25dup ENST00000324856 NM_006015.4 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107263 27107264 + 3_prime_UTR_variant 3'UTR INS - C rs3841356 SNU216_STOMACH ENST00000324856.7:c.*25dup ENST00000324856 NM_006015.4 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107263 27107264 + 3_prime_UTR_variant 3'UTR INS - C rs3841356 SW1710_URINARY_TRACT ENST00000324856.7:c.*25dup ENST00000324856 NM_006015.4 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107263 27107264 + 3_prime_UTR_variant 3'UTR INS - C rs3841356 T84_LARGE_INTESTINE ENST00000324856.7:c.*25dup ENST00000324856 NM_006015.4 20/20 SUCCESS | |
| 1 27107264 27107264 C C 22RV1_PROSTATE FAILED | |
| 1 27107264 27107264 C C ABC1_LUNG FAILED | |
| 1 27107264 27107264 C C CCK81_LARGE_INTESTINE FAILED | |
| 1 27107264 27107264 C C HEC151_ENDOMETRIUM FAILED | |
| 1 27107264 27107264 C C HEC59_ENDOMETRIUM FAILED | |
| 1 27107264 27107264 C C HEC6_ENDOMETRIUM FAILED | |
| 1 27107264 27107264 C C IGROV1_OVARY FAILED | |
| 1 27107264 27107264 C C IM95_STOMACH FAILED | |
| 1 27107264 27107264 C C LNCAPCLONEFGC_PROSTATE FAILED | |
| 1 27107264 27107264 C C LS411N_LARGE_INTESTINE FAILED | |
| 1 27107264 27107264 C C SNUC2A_LARGE_INTESTINE FAILED | |
| 1 27107264 27107264 C C SNUC4_LARGE_INTESTINE FAILED | |
| 1 27107264 27107264 C C SW48_LARGE_INTESTINE FAILED | |
| 1 27107264 27107264 C C TOV21G_OVARY FAILED | |
| ARID1A 8289 GRCh37 1 27107268 27107268 + 3_prime_UTR_variant 3'UTR SNP C T rs377624643 BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000324856.7:c.*21C>T ENST00000324856 NM_006015.4 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107268 27107268 + 3_prime_UTR_variant 3'UTR SNP C A rs377624643 SNU1041_UPPER_AERODIGESTIVE_TRACT ENST00000324856.7:c.*21C>A ENST00000324856 NM_006015.4 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107270 27107270 + 3_prime_UTR_variant 3'UTR SNP C T rs200568725 SNU324_PANCREAS ENST00000324856.7:c.*23C>T ENST00000324856 NM_006015.4 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107273 27107273 + 3_prime_UTR_variant 3'UTR SNP G A rs199555039 BICR56_UPPER_AERODIGESTIVE_TRACT ENST00000324856.7:c.*26G>A ENST00000324856 NM_006015.4 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107284 27107284 + 3_prime_UTR_variant 3'UTR SNP C A BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000324856.7:c.*37C>A ENST00000324856 NM_006015.4 20/20 SUCCESS | |
| ARID1A 8289 GRCh37 1 27107374 27107374 + 3_prime_UTR_variant 3'UTR SNP C T NCIH2106_LUNG ENST00000324856.7:c.*127C>T ENST00000324856 NM_006015.4 20/20 SUCCESS | |
| 1 27107398 27107399 TC TC DMS114_LUNG FAILED | |
| 1 27107398 27107399 TC TC NCIH1435_LUNG FAILED | |
| 1 27107398 27107399 TC TC OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 27107398 27107399 TC TC OE21_OESOPHAGUS FAILED | |
| 1 27107398 27107399 TC TC TOV21G_OVARY FAILED | |
| MAP3K6 9064 GRCh37 1 27681878 27681878 + downstream_gene_variant 3'Flank SNP G A NCIH841_LUNG ENST00000357582 SUCCESS | |
| MAP3K6 9064 GRCh37 1 27682963 27682963 + missense_variant Missense_Mutation SNP G A rs1305151316 639V_URINARY_TRACT ENST00000357582.2:c.3553C>T p.Arg1185Trp p.R1185W ENST00000357582 1185 Cgg/Tgg 26/29 SUCCESS | |
| 1 27683230 27683232 CTT CTT DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 27683230 27683232 CTT CTT DV90_LUNG FAILED | |
| 1 27683230 27683232 CTT CTT HCC202_BREAST FAILED | |
| 1 27683230 27683232 CTT CTT LS411N_LARGE_INTESTINE FAILED | |
| 1 27683230 27683232 CTT CTT MELJUSO_SKIN FAILED | |
| 1 27683230 27683232 CTT CTT NCIH1975_LUNG FAILED | |
| 1 27683230 27683232 CTT CTT OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 27683230 27683232 CTT CTT RL952_ENDOMETRIUM FAILED | |
| 1 27683230 27683232 CTT CTT RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| MAP3K6 9064 GRCh37 1 27683968 27683968 + missense_variant Missense_Mutation SNP C T rs55990440 LS1034_LARGE_INTESTINE ENST00000357582.2:c.3181G>A p.Ala1061Thr p.A1061T ENST00000357582 1061 Gcg/Acg 23/29 SUCCESS | |
| MAP3K6 9064 GRCh37 1 27684706 27684706 + missense_variant Missense_Mutation SNP G T rs201384950 SKMEL3_SKIN ENST00000357582.2:c.2881C>A p.Arg961Ser p.R961S ENST00000357582 961 Cgc/Agc 21/29 SUCCESS | |
| MAP3K6 9064 GRCh37 1 27684798 27684798 + missense_variant Missense_Mutation SNP G A rs533474638 NCIH2172_LUNG ENST00000357582.2:c.2789C>T p.Ala930Val p.A930V ENST00000357582 930 gCc/gTc 21/29 SUCCESS | |
| MAP3K6 9064 GRCh37 1 27685238 27685239 + frameshift_variant Frame_Shift_Ins INS - G rs34008139 2313287_STOMACH ENST00000357582.2:c.2544dup p.Phe849LeufsTer40 p.F849Lfs*40 ENST00000357582 848 -/C 19/29 SUCCESS | |
| MAP3K6 9064 GRCh37 1 27685238 27685239 + frameshift_variant Frame_Shift_Ins INS - G rs34008139 CW2_LARGE_INTESTINE ENST00000357582.2:c.2544dup p.Phe849LeufsTer40 p.F849Lfs*40 ENST00000357582 848 -/C 19/29 SUCCESS | |
| MAP3K6 9064 GRCh37 1 27685238 27685239 + frameshift_variant Frame_Shift_Ins INS - G rs34008139 SNU1040_LARGE_INTESTINE ENST00000357582.2:c.2544dup p.Phe849LeufsTer40 p.F849Lfs*40 ENST00000357582 848 -/C 19/29 SUCCESS | |
| 1 27685239 27685239 G G SNGM_ENDOMETRIUM FAILED | |
| 1 27685239 27685239 G G SW48_LARGE_INTESTINE FAILED | |
| MAP3K6 9064 GRCh37 1 27685976 27685976 + missense_variant Missense_Mutation SNP A G MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000357582.2:c.2357T>C p.Leu786Pro p.L786P ENST00000357582 786 cTc/cCc 18/29 SUCCESS | |
| MAP3K6 9064 GRCh37 1 27686354 27686354 + missense_variant Missense_Mutation SNP T G HCC1395_BREAST ENST00000357582.2:c.2314A>C p.Ile772Leu p.I772L ENST00000357582 772 Ata/Cta 17/29 SUCCESS | |
| MAP3K6 9064 GRCh37 1 27686366 27686366 + missense_variant Missense_Mutation SNP C T rs1300607813 SNU1040_LARGE_INTESTINE ENST00000357582.2:c.2302G>A p.Val768Met p.V768M ENST00000357582 768 Gtg/Atg 17/29 SUCCESS | |
| MAP3K6 9064 GRCh37 1 27686410 27686410 + missense_variant Missense_Mutation SNP C T rs1226535427 NCIH1836_LUNG ENST00000357582.2:c.2258G>A p.Arg753His p.R753H ENST00000357582 753 cGc/cAc 17/29 SUCCESS | |
| MAP3K6 9064 GRCh37 1 27686416 27686416 + missense_variant Missense_Mutation SNP T C SCC15_UPPER_AERODIGESTIVE_TRACT ENST00000357582.2:c.2252A>G p.Tyr751Cys p.Y751C ENST00000357582 751 tAc/tGc 17/29 SUCCESS | |
| MAP3K6 9064 GRCh37 1 27686830 27686830 + missense_variant Missense_Mutation SNP G A rs1252546926 SNU81_LARGE_INTESTINE ENST00000357582.2:c.2084C>T p.Ala695Val p.A695V ENST00000357582 695 gCt/gTt 16/29 SUCCESS | |
| MAP3K6 9064 GRCh37 1 27687208 27687208 + missense_variant Missense_Mutation SNP T A HEC108_ENDOMETRIUM ENST00000357582.2:c.2042A>T p.Glu681Val p.E681V ENST00000357582 681 gAg/gTg 15/29 SUCCESS | |
| MAP3K6 9064 GRCh37 1 27687301 27687301 + missense_variant Missense_Mutation SNP T C 2313287_STOMACH ENST00000357582.2:c.1949A>G p.Glu650Gly p.E650G ENST00000357582 650 gAg/gGg 15/29 SUCCESS | |
| MAP3K6 9064 GRCh37 1 27687322 27687322 + missense_variant Missense_Mutation SNP T C rs371702909 MUTZ3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000357582.2:c.1928A>G p.Tyr643Cys p.Y643C ENST00000357582 643 tAt/tGt 15/29 SUCCESS | |
| 1 27687423 27687423 C C HEC108_ENDOMETRIUM FAILED | |
| MAP3K6 9064 GRCh37 1 27688212 27688212 + missense_variant Missense_Mutation SNP T C HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000357582.2:c.1562A>G p.Gln521Arg p.Q521R ENST00000357582 521 cAg/cGg 10/29 SUCCESS | |
| MAP3K6 9064 GRCh37 1 27688255 27688255 + missense_variant Missense_Mutation SNP A C SNU1105_CENTRAL_NERVOUS_SYSTEM ENST00000357582.2:c.1519T>G p.Phe507Val p.F507V ENST00000357582 507 Ttc/Gtc 10/29 SUCCESS | |
| MAP3K6 9064 GRCh37 1 27688640 27688640 + missense_variant Missense_Mutation SNP C A OVMANA_OVARY ENST00000357582.2:c.1357G>T p.Asp453Tyr p.D453Y ENST00000357582 453 Gac/Tac 9/29 SUCCESS | |
| MAP3K6 9064 GRCh37 1 27689239 27689239 + missense_variant Missense_Mutation SNP C T rs750486175 G361_SKIN ENST00000357582.2:c.1148G>A p.Arg383His p.R383H ENST00000357582 383 cGc/cAc 8/29 SUCCESS | |
| MAP3K6 9064 GRCh37 1 27689239 27689239 + missense_variant Missense_Mutation SNP C T rs750486175 IGROV1_OVARY ENST00000357582.2:c.1148G>A p.Arg383His p.R383H ENST00000357582 383 cGc/cAc 8/29 SUCCESS | |
| MAP3K6 9064 GRCh37 1 27689384 27689384 + missense_variant Missense_Mutation SNP G A rs745531463 SNU1_STOMACH ENST00000357582.2:c.1100C>T p.Ser367Leu p.S367L ENST00000357582 367 tCg/tTg 7/29 SUCCESS | |
| MAP3K6 9064 GRCh37 1 27689421 27689421 + missense_variant Missense_Mutation SNP T G rs762095077 CORL95_LUNG ENST00000357582.2:c.1063A>C p.Met355Leu p.M355L ENST00000357582 355 Atg/Ctg 7/29 SUCCESS | |
| MAP3K6 9064 GRCh37 1 27689438 27689438 + missense_variant Missense_Mutation SNP G A rs141965929 NCIH841_LUNG ENST00000357582.2:c.1046C>T p.Ala349Val p.A349V ENST00000357582 349 gCg/gTg 7/29 SUCCESS | |
| MAP3K6 9064 GRCh37 1 27689466 27689466 + missense_variant Missense_Mutation SNP G A rs1165793785 REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000357582.2:c.1018C>T p.Pro340Ser p.P340S ENST00000357582 340 Ccg/Tcg 7/29 SUCCESS | |
| MAP3K6 9064 GRCh37 1 27689976 27689976 + missense_variant Missense_Mutation SNP C T rs751432601 NCIH1975_LUNG ENST00000357582.2:c.928G>A p.Glu310Lys p.E310K ENST00000357582 310 Gag/Aag 6/29 SUCCESS | |
| MAP3K6 9064 GRCh37 1 27690008 27690008 + missense_variant Missense_Mutation SNP G A rs747018492 HEC108_ENDOMETRIUM ENST00000357582.2:c.896C>T p.Thr299Met p.T299M ENST00000357582 299 aCg/aTg 6/29 SUCCESS | |
| MAP3K6 9064 GRCh37 1 27690491 27690491 + missense_variant Missense_Mutation SNP G A rs369006215 HCC366_LUNG ENST00000357582.2:c.781C>T p.Arg261Cys p.R261C ENST00000357582 261 Cgc/Tgc 5/29 SUCCESS | |
| MAP3K6 9064 GRCh37 1 27690491 27690491 + missense_variant Missense_Mutation SNP G A rs369006215 LS180_LARGE_INTESTINE ENST00000357582.2:c.781C>T p.Arg261Cys p.R261C ENST00000357582 261 Cgc/Tgc 5/29 SUCCESS | |
| MAP3K6 9064 GRCh37 1 27690515 27690515 + missense_variant Missense_Mutation SNP G A HEC108_ENDOMETRIUM ENST00000357582.2:c.757C>T p.Pro253Ser p.P253S ENST00000357582 253 Cca/Tca 5/29 SUCCESS | |
| MAP3K6 9064 GRCh37 1 27690526 27690526 + missense_variant Missense_Mutation SNP C A rs373435230 HCC1438_LUNG ENST00000357582.2:c.746G>T p.Arg249Leu p.R249L ENST00000357582 249 cGg/cTg 5/29 SUCCESS | |
| MAP3K6 9064 GRCh37 1 27690542 27690542 + missense_variant Missense_Mutation SNP G A rs931712271 CCK81_LARGE_INTESTINE ENST00000357582.2:c.730C>T p.Arg244Trp p.R244W ENST00000357582 244 Cgg/Tgg 5/29 SUCCESS | |
| MAP3K6 9064 GRCh37 1 27690725 27690725 + missense_variant Missense_Mutation SNP C T rs759996968 HCC1599_BREAST ENST00000357582.2:c.665G>A p.Arg222His p.R222H ENST00000357582 222 cGc/cAc 4/29 SUCCESS | |
| MAP3K6 9064 GRCh37 1 27690747 27690747 + missense_variant Missense_Mutation SNP G C rs1335896588 NCIH1930_LUNG ENST00000357582.2:c.643C>G p.Pro215Ala p.P215A ENST00000357582 215 Ccc/Gcc 4/29 SUCCESS | |
| MAP3K6 9064 GRCh37 1 27690803 27690803 + missense_variant Missense_Mutation SNP C T rs964759745 KM12_LARGE_INTESTINE ENST00000357582.2:c.587G>A p.Arg196Gln p.R196Q ENST00000357582 196 cGg/cAg 4/29 SUCCESS | |
| MAP3K6 9064 GRCh37 1 27690845 27690845 + missense_variant Missense_Mutation SNP G T RL952_ENDOMETRIUM ENST00000357582.2:c.545C>A p.Thr182Lys p.T182K ENST00000357582 182 aCg/aAg 4/29 SUCCESS | |
| FGR 2268 GRCh37 1 27939302 27939302 + 3_prime_UTR_variant 3'UTR SNP C A LNCAPCLONEFGC_PROSTATE ENST00000374003.3:c.*123G>T ENST00000374003 NM_001042729.1 13/13 SUCCESS | |
| FGR 2268 GRCh37 1 27939383 27939383 + 3_prime_UTR_variant 3'UTR SNP G A rs1277517384 MEWO_SKIN ENST00000374003.3:c.*42C>T ENST00000374003 NM_001042729.1 13/13 SUCCESS | |
| FGR 2268 GRCh37 1 27939442 27939442 + missense_variant Missense_Mutation SNP G A rs143850913 REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000374003.3:c.1573C>T p.Pro525Ser p.P525S ENST00000374003 NM_001042729.1 525 Ccc/Tcc 13/13 SUCCESS | |
| FGR 2268 GRCh37 1 27939526 27939526 + missense_variant Missense_Mutation SNP G T RERFLCAD2_LUNG ENST00000374003.3:c.1489C>A p.Leu497Met p.L497M ENST00000374003 NM_001042729.1 497 Ctg/Atg 13/13 SUCCESS | |
| FGR 2268 GRCh37 1 27939528 27939528 + missense_variant Missense_Mutation SNP C T rs141451773 SW1783_CENTRAL_NERVOUS_SYSTEM ENST00000374003.3:c.1487G>A p.Arg496His p.R496H ENST00000374003 NM_001042729.1 496 cGt/cAt 13/13 SUCCESS | |
| FGR 2268 GRCh37 1 27939552 27939552 + missense_variant Missense_Mutation SNP T C SNU1040_LARGE_INTESTINE ENST00000374003.3:c.1463A>G p.Tyr488Cys p.Y488C ENST00000374003 NM_001042729.1 488 tAc/tGc 13/13 SUCCESS | |
| FGR 2268 GRCh37 1 27939556 27939556 + missense_variant Missense_Mutation SNP G T HEC151_ENDOMETRIUM ENST00000374003.3:c.1459C>A p.Leu487Met p.L487M ENST00000374003 NM_001042729.1 487 Ctg/Atg 13/13 SUCCESS | |
| FGR 2268 GRCh37 1 27940979 27940979 + missense_variant Missense_Mutation SNP G A rs755738879 639V_URINARY_TRACT ENST00000374003.3:c.1211C>T p.Ala404Val p.A404V ENST00000374003 NM_001042729.1 404 gCg/gTg 11/13 SUCCESS | |
| FGR 2268 GRCh37 1 27941049 27941049 + missense_variant Missense_Mutation SNP G T LU65_LUNG ENST00000374003.3:c.1141C>A p.Arg381Ser p.R381S ENST00000374003 NM_001042729.1 381 Cgc/Agc 11/13 SUCCESS | |
| FGR 2268 GRCh37 1 27941415 27941415 + missense_variant Missense_Mutation SNP C A JHUEM7_ENDOMETRIUM ENST00000374003.3:c.1041G>T p.Lys347Asn p.K347N ENST00000374003 NM_001042729.1 347 aaG/aaT 10/13 SUCCESS | |
| FGR 2268 GRCh37 1 27941986 27941986 + missense_variant Missense_Mutation SNP G A JHUEM2_ENDOMETRIUM ENST00000374003.3:c.977C>T p.Ser326Leu p.S326L ENST00000374003 NM_001042729.1 326 tCg/tTg 9/13 SUCCESS | |
| FGR 2268 GRCh37 1 27942080 27942080 + missense_variant Missense_Mutation SNP G A HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000374003.3:c.883C>T p.Pro295Ser p.P295S ENST00000374003 NM_001042729.1 295 Ccg/Tcg 9/13 SUCCESS | |
| FGR 2268 GRCh37 1 27942174 27942174 + intron_variant Intron SNP C T rs1474528787 KYSE150_OESOPHAGUS ENST00000374003.3:c.838+26G>A p.*280* ENST00000374003 NM_001042729.1 SUCCESS | |
| FGR 2268 GRCh37 1 27942323 27942323 + missense_variant Missense_Mutation SNP C T HCC827_LUNG ENST00000374003.3:c.715G>A p.Ala239Thr p.A239T ENST00000374003 NM_001042729.1 239 Gcg/Acg 8/13 SUCCESS | |
| FGR 2268 GRCh37 1 27942346 27942346 + missense_variant Missense_Mutation SNP T A rs2231878 MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000374003.3:c.692A>T p.Asp231Val p.D231V ENST00000374003 NM_001042729.1 231 gAc/gTc 8/13 SUCCESS | |
| FGR 2268 GRCh37 1 27942346 27942346 + missense_variant Missense_Mutation SNP T A rs2231878 SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000374003.3:c.692A>T p.Asp231Val p.D231V ENST00000374003 NM_001042729.1 231 gAc/gTc 8/13 SUCCESS | |
| FGR 2268 GRCh37 1 27943413 27943413 + missense_variant Missense_Mutation SNP G A rs758448350 REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000374003.3:c.637C>T p.Arg213Trp p.R213W ENST00000374003 NM_001042729.1 213 Cgg/Tgg 7/13 SUCCESS | |
| FGR 2268 GRCh37 1 27943449 27943449 + missense_variant Missense_Mutation SNP G A rs777849644 HEC108_ENDOMETRIUM ENST00000374003.3:c.601C>T p.Arg201Cys p.R201C ENST00000374003 NM_001042729.1 201 Cgc/Tgc 7/13 SUCCESS | |
| FGR 2268 GRCh37 1 27948165 27948165 + missense_variant Missense_Mutation SNP T G HT115_LARGE_INTESTINE ENST00000374003.3:c.333A>C p.Glu111Asp p.E111D ENST00000374003 NM_001042729.1 111 gaA/gaC 5/13 SUCCESS | |
| FGR 2268 GRCh37 1 27949572 27949572 + missense_variant Missense_Mutation SNP A G HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000374003.3:c.310T>C p.Phe104Leu p.F104L ENST00000374003 NM_001042729.1 104 Ttc/Ctc 4/13 SUCCESS | |
| FGR 2268 GRCh37 1 27950249 27950249 + missense_variant Missense_Mutation SNP G A rs761114087 NCIH2110_LUNG ENST00000374003.3:c.179C>T p.Ala60Val p.A60V ENST00000374003 NM_001042729.1 60 gCc/gTc 3/13 SUCCESS | |
| FGR 2268 GRCh37 1 27950336 27950336 + missense_variant Missense_Mutation SNP G A CW2_LARGE_INTESTINE ENST00000374003.3:c.92C>T p.Ala31Val p.A31V ENST00000374003 NM_001042729.1 31 gCa/gTa 3/13 SUCCESS | |
| FGR 2268 GRCh37 1 27950343 27950343 + missense_variant Missense_Mutation SNP C T rs745374693 RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000374003.3:c.85G>A p.Gly29Arg p.G29R ENST00000374003 NM_001042729.1 29 Ggg/Agg 3/13 SUCCESS | |
| FGR 2268 GRCh37 1 27950407 27950407 + missense_variant Missense_Mutation SNP C A HEC251_ENDOMETRIUM ENST00000374003.3:c.21G>T p.Lys7Asn p.K7N ENST00000374003 NM_001042729.1 7 aaG/aaT 3/13 SUCCESS | |
| FGR 2268 GRCh37 1 27950536 27950536 + intron_variant Intron SNP C T rs531452938 P3HR1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000374003.3:c.-13-96G>A p.*5* ENST00000374003 NM_001042729.1 SUCCESS | |
| PTPRU 10076 GRCh37 1 29585960 29585960 + splice_acceptor_variant Splice_Site SNP G A DV90_LUNG ENST00000345512.3:c.560-1G>A p.X187_splice ENST00000345512 NM_005704.4 187 SUCCESS | |
| PTPRU 10076 GRCh37 1 29587124 29587124 + missense_variant,splice_region_variant Missense_Mutation SNP C T L33_PANCREAS ENST00000345512.3:c.853C>T p.Pro285Ser p.P285S ENST00000345512 NM_005704.4 285 Ccc/Tcc 7/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29587226 29587226 + missense_variant Missense_Mutation SNP C T HT1376_URINARY_TRACT ENST00000345512.3:c.955C>T p.Arg319Cys p.R319C ENST00000345512 NM_005704.4 319 Cgc/Tgc 7/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29587227 29587227 + missense_variant Missense_Mutation SNP G A rs1241477456 CL34_LARGE_INTESTINE ENST00000345512.3:c.956G>A p.Arg319His p.R319H ENST00000345512 NM_005704.4 319 cGc/cAc 7/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29587253 29587253 + missense_variant Missense_Mutation SNP C T GP2D_LARGE_INTESTINE ENST00000345512.3:c.982C>T p.Arg328Cys p.R328C ENST00000345512 NM_005704.4 328 Cgc/Tgc 7/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29587356 29587356 + missense_variant Missense_Mutation SNP C T KYSE270_OESOPHAGUS ENST00000345512.3:c.1085C>T p.Pro362Leu p.P362L ENST00000345512 NM_005704.4 362 cCc/cTc 7/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29602139 29602139 + stop_gained Nonsense_Mutation SNP G T DMS79_LUNG ENST00000345512.3:c.1324G>T p.Glu442Ter p.E442* ENST00000345512 NM_005704.4 442 Gag/Tag 8/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29602142 29602142 + stop_gained Nonsense_Mutation SNP C T NCIH2342_LUNG ENST00000345512.3:c.1327C>T p.Gln443Ter p.Q443* ENST00000345512 NM_005704.4 443 Caa/Taa 8/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29605966 29605966 + splice_acceptor_variant Splice_Site SNP A T NCIH446_LUNG ENST00000345512.3:c.1564-2A>T p.X522_splice ENST00000345512 NM_005704.4 522 SUCCESS | |
| PTPRU 10076 GRCh37 1 29605998 29605998 + missense_variant Missense_Mutation SNP C A CL14_LARGE_INTESTINE ENST00000345512.3:c.1594C>A p.Pro532Thr p.P532T ENST00000345512 NM_005704.4 532 Ccg/Acg 10/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29605999 29605999 + missense_variant Missense_Mutation SNP C T rs373947377 NCIH2030_LUNG ENST00000345512.3:c.1595C>T p.Pro532Leu p.P532L ENST00000345512 NM_005704.4 532 cCg/cTg 10/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29606025 29606025 + missense_variant Missense_Mutation SNP C T rs756818305 KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000345512.3:c.1621C>T p.Arg541Cys p.R541C ENST00000345512 NM_005704.4 541 Cgt/Tgt 10/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29606025 29606025 + missense_variant Missense_Mutation SNP C T rs756818305 TE14_OESOPHAGUS ENST00000345512.3:c.1621C>T p.Arg541Cys p.R541C ENST00000345512 NM_005704.4 541 Cgt/Tgt 10/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29606044 29606044 + missense_variant Missense_Mutation SNP G A rs370694990 GSU_STOMACH ENST00000345512.3:c.1640G>A p.Arg547His p.R547H ENST00000345512 NM_005704.4 547 cGc/cAc 10/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29606103 29606103 + missense_variant Missense_Mutation SNP G A rs375192977 KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000345512.3:c.1699G>A p.Val567Met p.V567M ENST00000345512 NM_005704.4 567 Gtg/Atg 10/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29606113 29606113 + missense_variant Missense_Mutation SNP G A rs775231191 SNUC2A_LARGE_INTESTINE ENST00000345512.3:c.1709G>A p.Arg570His p.R570H ENST00000345512 NM_005704.4 570 cGc/cAc 10/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29606121 29606121 + missense_variant Missense_Mutation SNP A G 2313287_STOMACH ENST00000345512.3:c.1717A>G p.Lys573Glu p.K573E ENST00000345512 NM_005704.4 573 Aaa/Gaa 10/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29606134 29606134 + missense_variant Missense_Mutation SNP A G JHH2_LIVER ENST00000345512.3:c.1730A>G p.Gln577Arg p.Q577R ENST00000345512 NM_005704.4 577 cAg/cGg 10/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29606613 29606613 + missense_variant Missense_Mutation SNP G A rs747973212 ISTMES1_PLEURA ENST00000345512.3:c.1828G>A p.Val610Met p.V610M ENST00000345512 NM_005704.4 610 Gtg/Atg 11/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29606626 29606626 + missense_variant Missense_Mutation SNP C A NCIH1339_LUNG ENST00000345512.3:c.1841C>A p.Pro614Gln p.P614Q ENST00000345512 NM_005704.4 614 cCg/cAg 11/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29606637 29606637 + missense_variant Missense_Mutation SNP C T rs369488427 EFM192A_BREAST ENST00000345512.3:c.1852C>T p.Arg618Cys p.R618C ENST00000345512 NM_005704.4 618 Cgc/Tgc 11/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29606644 29606644 + missense_variant Missense_Mutation SNP C T rs138353108 HEC108_ENDOMETRIUM ENST00000345512.3:c.1859C>T p.Ala620Val p.A620V ENST00000345512 NM_005704.4 620 gCg/gTg 11/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29606646 29606646 + missense_variant Missense_Mutation SNP C T CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000345512.3:c.1861C>T p.Pro621Ser p.P621S ENST00000345512 NM_005704.4 621 Ccc/Tcc 11/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29609198 29609198 + missense_variant Missense_Mutation SNP G T NCIH650_LUNG ENST00000345512.3:c.1879G>T p.Val627Leu p.V627L ENST00000345512 NM_005704.4 627 Gtg/Ttg 12/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29609222 29609222 + missense_variant Missense_Mutation SNP C T rs373382555 GRANTA519_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000345512.3:c.1903C>T p.Arg635Trp p.R635W ENST00000345512 NM_005704.4 635 Cgg/Tgg 12/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29609261 29609261 + missense_variant Missense_Mutation SNP C A rs1394004581 NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000345512.3:c.1942C>A p.Pro648Thr p.P648T ENST00000345512 NM_005704.4 648 Cca/Aca 12/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29610473 29610473 + missense_variant Missense_Mutation SNP C T rs749851774 HEC1A_ENDOMETRIUM ENST00000345512.3:c.2164C>T p.Arg722Cys p.R722C ENST00000345512 NM_005704.4 722 Cgc/Tgc 13/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29610474 29610474 + missense_variant Missense_Mutation SNP G A SNU324_PANCREAS ENST00000345512.3:c.2165G>A p.Arg722His p.R722H ENST00000345512 NM_005704.4 722 cGc/cAc 13/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29611356 29611356 + missense_variant Missense_Mutation SNP G T SW48_LARGE_INTESTINE ENST00000345512.3:c.2293G>T p.Ala765Ser p.A765S ENST00000345512 NM_005704.4 765 Gcc/Tcc 14/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29616206 29616206 + missense_variant Missense_Mutation SNP A G rs772032499 NCIH2081_LUNG ENST00000345512.3:c.2330A>G p.Tyr777Cys p.Y777C ENST00000345512 NM_005704.4 777 tAt/tGt 15/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29616225 29616225 + splice_donor_variant Splice_Site SNP G A rs760447683 MEWO_SKIN ENST00000345512.3:c.2348+1G>A p.X783_splice ENST00000345512 NM_005704.4 783 SUCCESS | |
| PTPRU 10076 GRCh37 1 29618407 29618407 + missense_variant Missense_Mutation SNP C T COLO792_SKIN ENST00000345512.3:c.2375C>T p.Thr792Ile p.T792I ENST00000345512 NM_005704.4 792 aCc/aTc 16/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29618417 29618417 + stop_gained Nonsense_Mutation SNP C A SKMES1_LUNG ENST00000345512.3:c.2385C>A p.Tyr795Ter p.Y795* ENST00000345512 NM_005704.4 795 taC/taA 16/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29618455 29618455 + missense_variant Missense_Mutation SNP G A SNU1040_LARGE_INTESTINE ENST00000345512.3:c.2423G>A p.Arg808His p.R808H ENST00000345512 NM_005704.4 808 cGc/cAc 16/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29618497 29618497 + missense_variant Missense_Mutation SNP T C MIAPACA2_PANCREAS ENST00000345512.3:c.2465T>C p.Leu822Pro p.L822P ENST00000345512 NM_005704.4 822 cTg/cCg 16/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29630483 29630483 + missense_variant Missense_Mutation SNP C T rs144662614 CAL51_BREAST ENST00000345512.3:c.2623C>T p.Arg875Cys p.R875C ENST00000345512 NM_005704.4 875 Cgt/Tgt 17/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29630483 29630483 + missense_variant Missense_Mutation SNP C T rs144662614 HEC6_ENDOMETRIUM ENST00000345512.3:c.2623C>T p.Arg875Cys p.R875C ENST00000345512 NM_005704.4 875 Cgt/Tgt 17/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29630483 29630483 + missense_variant Missense_Mutation SNP C T rs144662614 SNU216_STOMACH ENST00000345512.3:c.2623C>T p.Arg875Cys p.R875C ENST00000345512 NM_005704.4 875 Cgt/Tgt 17/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29630489 29630489 + missense_variant Missense_Mutation SNP G A rs145708690 SNU1040_LARGE_INTESTINE ENST00000345512.3:c.2629G>A p.Ala877Thr p.A877T ENST00000345512 NM_005704.4 877 Gca/Aca 17/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29630537 29630537 + missense_variant Missense_Mutation SNP G A rs765153873 OE21_OESOPHAGUS ENST00000345512.3:c.2677G>A p.Gly893Ser p.G893S ENST00000345512 NM_005704.4 893 Ggc/Agc 17/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29631305 29631305 + missense_variant Missense_Mutation SNP A G rs186476406 SNU216_STOMACH ENST00000345512.3:c.2717A>G p.Asp906Gly p.D906G ENST00000345512 NM_005704.4 906 gAc/gGc 18/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29631305 29631305 + missense_variant Missense_Mutation SNP A G rs186476406 SNU283_LARGE_INTESTINE ENST00000345512.3:c.2717A>G p.Asp906Gly p.D906G ENST00000345512 NM_005704.4 906 gAc/gGc 18/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29631305 29631305 + missense_variant Missense_Mutation SNP A G rs186476406 SNU761_LIVER ENST00000345512.3:c.2717A>G p.Asp906Gly p.D906G ENST00000345512 NM_005704.4 906 gAc/gGc 18/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29631866 29631866 + missense_variant,splice_region_variant Missense_Mutation SNP G A HEC1A_ENDOMETRIUM ENST00000345512.3:c.2776G>A p.Asp926Asn p.D926N ENST00000345512 NM_005704.4 926 Gat/Aat 19/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29631879 29631879 + missense_variant Missense_Mutation SNP T G SNU324_PANCREAS ENST00000345512.3:c.2789T>G p.Val930Gly p.V930G ENST00000345512 NM_005704.4 930 gTg/gGg 19/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29631891 29631891 + missense_variant Missense_Mutation SNP C A rs1384533750 LNCAPCLONEFGC_PROSTATE ENST00000345512.3:c.2801C>A p.Pro934Gln p.P934Q ENST00000345512 NM_005704.4 934 cCg/cAg 19/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29633645 29633645 + intron_variant Intron SNP G A rs1687427822 SNU1040_LARGE_INTESTINE ENST00000345512.3:c.2850+1705G>A p.*950* ENST00000345512 NM_005704.4 SUCCESS | |
| PTPRU 10076 GRCh37 1 29633651 29633651 + intron_variant Intron SNP A G rs764397731 REC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000345512.3:c.2850+1711A>G p.*950* ENST00000345512 NM_005704.4 SUCCESS | |
| PTPRU 10076 GRCh37 1 29637287 29637287 + missense_variant Missense_Mutation SNP C A SW1116_LARGE_INTESTINE ENST00000345512.3:c.2882C>A p.Thr961Asn p.T961N ENST00000345512 NM_005704.4 961 aCt/aAt 20/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29638033 29638033 + missense_variant Missense_Mutation SNP G A rs138769148 SKUT1_SOFT_TISSUE ENST00000345512.3:c.2953G>A p.Val985Ile p.V985I ENST00000345512 NM_005704.4 985 Gtc/Atc 21/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29638154 29638154 + splice_acceptor_variant Splice_Site SNP G A KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000345512.3:c.2986-1G>A p.X996_splice ENST00000345512 NM_005704.4 996 SUCCESS | |
| PTPRU 10076 GRCh37 1 29639127 29639128 + frameshift_variant Frame_Shift_Ins INS - C CW2_LARGE_INTESTINE ENST00000345512.3:c.3166_3167insC p.Val1056AlafsTer22 p.V1056Afs*22 ENST00000345512 NM_005704.4 1056 gtc/gCtc 23/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29641885 29641885 + missense_variant,splice_region_variant Missense_Mutation SNP G A rs753454967 HT115_LARGE_INTESTINE ENST00000345512.3:c.3259G>A p.Ala1087Thr p.A1087T ENST00000345512 NM_005704.4 1087 Gcg/Acg 24/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29641885 29641885 + missense_variant,splice_region_variant Missense_Mutation SNP G A rs753454967 KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000345512.3:c.3259G>A p.Ala1087Thr p.A1087T ENST00000345512 NM_005704.4 1087 Gcg/Acg 24/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29641997 29641997 + missense_variant Missense_Mutation SNP G A rs773283021 LOVO_LARGE_INTESTINE ENST00000345512.3:c.3371G>A p.Arg1124His p.R1124H ENST00000345512 NM_005704.4 1124 cGt/cAt 24/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29641997 29641997 + missense_variant Missense_Mutation SNP G T NCIH838_LUNG ENST00000345512.3:c.3371G>T p.Arg1124Leu p.R1124L ENST00000345512 NM_005704.4 1124 cGt/cTt 24/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29642520 29642520 + missense_variant Missense_Mutation SNP T C GP2D_LARGE_INTESTINE ENST00000345512.3:c.3400T>C p.Tyr1134His p.Y1134H ENST00000345512 NM_005704.4 1134 Tac/Cac 25/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29642614 29642614 + missense_variant Missense_Mutation SNP T G rs141267043 EFO21_OVARY ENST00000345512.3:c.3494T>G p.Ile1165Ser p.I1165S ENST00000345512 NM_005704.4 1165 aTc/aGc 25/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29644308 29644308 + missense_variant Missense_Mutation SNP G A KM12_LARGE_INTESTINE ENST00000345512.3:c.3592G>A p.Ala1198Thr p.A1198T ENST00000345512 NM_005704.4 1198 Gcc/Acc 26/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29647160 29647160 + intron_variant Intron SNP G A rs188609839 SKNMC_BONE ENST00000345512.3:c.3718-37G>A p.*1240* ENST00000345512 NM_005704.4 SUCCESS | |
| PTPRU 10076 GRCh37 1 29647206 29647206 + missense_variant Missense_Mutation SNP C T HEC108_ENDOMETRIUM ENST00000345512.3:c.3727C>T p.Arg1243Trp p.R1243W ENST00000345512 NM_005704.4 1243 Cgg/Tgg 27/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29649932 29649932 + missense_variant Missense_Mutation SNP T C HEC108_ENDOMETRIUM ENST00000345512.3:c.3908T>C p.Met1303Thr p.M1303T ENST00000345512 NM_005704.4 1303 aTg/aCg 28/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29650155 29650155 + missense_variant Missense_Mutation SNP C T rs371005244 HCT15_LARGE_INTESTINE ENST00000345512.3:c.3997C>T p.His1333Tyr p.H1333Y ENST00000345512 NM_005704.4 1333 Cac/Tac 29/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29650186 29650186 + missense_variant Missense_Mutation SNP G A rs778910187 GRANTA519_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000345512.3:c.4028G>A p.Arg1343His p.R1343H ENST00000345512 NM_005704.4 1343 cGc/cAc 29/31 SUCCESS | |
| PTPRU 10076 GRCh37 1 29652265 29652265 + downstream_gene_variant 3'Flank SNP A G HS729_SOFT_TISSUE ENST00000345512 NM_005704.4 SUCCESS | |
| PTPRU 10076 GRCh37 1 29652275 29652275 + downstream_gene_variant 3'Flank SNP C T SKMEL28_SKIN ENST00000345512 NM_005704.4 SUCCESS | |
| PTPRU 10076 GRCh37 1 29652282 29652282 + downstream_gene_variant 3'Flank SNP G A TGBC11TKB_STOMACH ENST00000345512 NM_005704.4 SUCCESS | |
| PTPRU 10076 GRCh37 1 29652320 29652320 + downstream_gene_variant 3'Flank SNP C T rs549940917 SKMEL5_SKIN ENST00000345512 NM_005704.4 SUCCESS | |
| LCK 3932 GRCh37 1 32739923 32739923 + splice_region_variant,intron_variant Splice_Region SNP C T NCIH1651_LUNG ENST00000336890.5:c.-5-3C>T p.X2_splice ENST00000336890 NM_005356.3 2 SUCCESS | |
| LCK 3932 GRCh37 1 32740365 32740365 + missense_variant Missense_Mutation SNP C T rs139649211 SNU1040_LARGE_INTESTINE ENST00000336890.5:c.133C>T p.Arg45Trp p.R45W ENST00000336890 NM_005356.3 45 Cgg/Tgg 3/13 SUCCESS | |
| LCK 3932 GRCh37 1 32740492 32740492 + intron_variant Intron SNP C G CORL95_LUNG ENST00000336890.5:c.187+73C>G p.*63* ENST00000336890 NM_005356.3 SUCCESS | |
| LCK 3932 GRCh37 1 32740633 32740633 + missense_variant Missense_Mutation SNP A G TCCPAN2_PANCREAS ENST00000336890.5:c.227A>G p.His76Arg p.H76R ENST00000336890 NM_005356.3 76 cAc/cGc 4/13 SUCCESS | |
| LCK 3932 GRCh37 1 32741208 32741208 + missense_variant Missense_Mutation SNP G A KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000336890.5:c.416G>A p.Arg139Gln p.R139Q ENST00000336890 NM_005356.3 139 cGg/cAg 6/13 SUCCESS | |
| LCK 3932 GRCh37 1 32741219 32741219 + missense_variant Missense_Mutation SNP G T LNCAPCLONEFGC_PROSTATE ENST00000336890.5:c.427G>T p.Ala143Ser p.A143S ENST00000336890 NM_005356.3 143 Gcg/Tcg 6/13 SUCCESS | |
| 1 32741225 32741225 G G TEN_ENDOMETRIUM FAILED | |
| LCK 3932 GRCh37 1 32741532 32741532 + missense_variant Missense_Mutation SNP G A SKNDZ_AUTONOMIC_GANGLIA ENST00000336890.5:c.499G>A p.Val167Ile p.V167I ENST00000336890 NM_005356.3 167 Gtc/Atc 7/13 SUCCESS | |
| LCK 3932 GRCh37 1 32742001 32742001 + missense_variant Missense_Mutation SNP C T JHUEM2_ENDOMETRIUM ENST00000336890.5:c.695C>T p.Pro232Leu p.P232L ENST00000336890 NM_005356.3 232 cCg/cTg 8/13 SUCCESS | |
| LCK 3932 GRCh37 1 32745200 32745200 + intron_variant Intron SNP A G SNUC5_LARGE_INTESTINE ENST00000336890.5:c.965-72A>G p.*322* ENST00000336890 NM_005356.3 SUCCESS | |
| LCK 3932 GRCh37 1 32745215 32745215 + intron_variant Intron SNP G A rs569757901 HEC108_ENDOMETRIUM ENST00000336890.5:c.965-57G>A p.*322* ENST00000336890 NM_005356.3 SUCCESS | |
| 1 32745227 32745227 C C RL952_ENDOMETRIUM FAILED | |
| LCK 3932 GRCh37 1 32745254 32745254 + intron_variant Intron SNP T C rs1188604871 HEC251_ENDOMETRIUM ENST00000336890.5:c.965-18T>C p.*322* ENST00000336890 NM_005356.3 SUCCESS | |
| LCK 3932 GRCh37 1 32745488 32745488 + missense_variant Missense_Mutation SNP G A KM12_LARGE_INTESTINE ENST00000336890.5:c.1088G>A p.Arg363His p.R363H ENST00000336890 NM_005356.3 363 cGt/cAt 11/13 SUCCESS | |
| LCK 3932 GRCh37 1 32745531 32745531 + missense_variant Missense_Mutation SNP C G MDAMB453_BREAST ENST00000336890.5:c.1131C>G p.Ser377Arg p.S377R ENST00000336890 NM_005356.3 377 agC/agG 11/13 SUCCESS | |
| LCK 3932 GRCh37 1 32745586 32745586 + missense_variant Missense_Mutation SNP G A REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000336890.5:c.1186G>A p.Ala396Thr p.A396T ENST00000336890 NM_005356.3 396 Gcc/Acc 11/13 SUCCESS | |
| LCK 3932 GRCh37 1 32745724 32745724 + missense_variant Missense_Mutation SNP T A HEC108_ENDOMETRIUM ENST00000336890.5:c.1240T>A p.Tyr414Asn p.Y414N ENST00000336890 NM_005356.3 414 Tac/Aac 12/13 SUCCESS | |
| LCK 3932 GRCh37 1 32745797 32745797 + missense_variant Missense_Mutation SNP G A HEC59_ENDOMETRIUM ENST00000336890.5:c.1313G>A p.Arg438His p.R438H ENST00000336890 NM_005356.3 438 cGc/cAc 12/13 SUCCESS | |
| LCK 3932 GRCh37 1 32745802 32745802 + missense_variant Missense_Mutation SNP C T rs1318678254 MORCPR_LUNG ENST00000336890.5:c.1318C>T p.Pro440Ser p.P440S ENST00000336890 NM_005356.3 440 Cct/Tct 12/13 SUCCESS | |
| LCK 3932 GRCh37 1 32751153 32751153 + missense_variant Missense_Mutation SNP G A NCIH2291_LUNG ENST00000336890.5:c.1366G>A p.Gly456Ser p.G456S ENST00000336890 NM_005356.3 456 Ggc/Agc 13/13 SUCCESS | |
| LCK 3932 GRCh37 1 32751231 32751231 + missense_variant Missense_Mutation SNP G C 647V_URINARY_TRACT ENST00000336890.5:c.1444G>C p.Glu482Gln p.E482Q ENST00000336890 NM_005356.3 482 Gag/Cag 13/13 SUCCESS | |
| LCK 3932 GRCh37 1 32751237 32751237 + missense_variant Missense_Mutation SNP C T HCT116_LARGE_INTESTINE ENST00000336890.5:c.1450C>T p.Arg484Trp p.R484W ENST00000336890 NM_005356.3 484 Cgg/Tgg 13/13 SUCCESS | |
| HDAC1 3065 GRCh37 1 32768253 32768253 + synonymous_variant Silent SNP C G BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000373548.3:c.81C>G p.Gly27= p.G27= ENST00000373548 NM_004964.2 27 ggC/ggG 2/14 SUCCESS | |
| HDAC1 3065 GRCh37 1 32768259 32768259 + synonymous_variant Silent SNP A C BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000373548.3:c.87A>C p.Pro29= p.P29= ENST00000373548 NM_004964.2 29 ccA/ccC 2/14 SUCCESS | |
| HDAC1 3065 GRCh37 1 32782302 32782302 + missense_variant Missense_Mutation SNP T C GP2D_LARGE_INTESTINE ENST00000373548.3:c.199T>C p.Tyr67His p.Y67H ENST00000373548 NM_004964.2 67 Tac/Cac 3/14 SUCCESS | |
| HDAC1 3065 GRCh37 1 32782335 32782335 + missense_variant Missense_Mutation SNP T C SW48_LARGE_INTESTINE ENST00000373548.3:c.232T>C p.Ser78Pro p.S78P ENST00000373548 NM_004964.2 78 Tcc/Ccc 3/14 SUCCESS | |
| HDAC1 3065 GRCh37 1 32782338 32782338 + missense_variant Missense_Mutation SNP A G HEC6_ENDOMETRIUM ENST00000373548.3:c.235A>G p.Ile79Val p.I79V ENST00000373548 NM_004964.2 79 Atc/Gtc 3/14 SUCCESS | |
| HDAC1 3065 GRCh37 1 32792539 32792539 + splice_acceptor_variant Splice_Site SNP G A TEN_ENDOMETRIUM ENST00000373548.3:c.356-1G>A p.X119_splice ENST00000373548 NM_004964.2 119 SUCCESS | |
| HDAC1 3065 GRCh37 1 32793136 32793136 + splice_acceptor_variant Splice_Site SNP G A DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000373548.3:c.495-1G>A p.X165_splice ENST00000373548 NM_004964.2 165 SUCCESS | |
| HDAC1 3065 GRCh37 1 32793249 32793249 + missense_variant Missense_Mutation SNP G A JHH5_LIVER ENST00000373548.3:c.607G>A p.Glu203Lys p.E203K ENST00000373548 NM_004964.2 203 Gag/Aag 6/14 SUCCESS | |
| HDAC1 3065 GRCh37 1 32793271 32793271 + missense_variant Missense_Mutation SNP A G HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000373548.3:c.629A>G p.Asp210Gly p.D210G ENST00000373548 NM_004964.2 210 gAc/gGc 6/14 SUCCESS | |
| HDAC1 3065 GRCh37 1 32793286 32793286 + splice_region_variant,intron_variant Splice_Region SNP C T rs766724433 MG63_BONE ENST00000373548.3:c.636+8C>T p.X212_splice ENST00000373548 NM_004964.2 212 SUCCESS | |
| HDAC1 3065 GRCh37 1 32793327 32793327 + intron_variant Intron SNP C G MEG01_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000373548.3:c.636+49C>G p.*212* ENST00000373548 NM_004964.2 SUCCESS | |
| HDAC1 3065 GRCh37 1 32793346 32793346 + intron_variant Intron SNP C G rs745794737 NCIH1437_LUNG ENST00000373548.3:c.636+68C>G p.*212* ENST00000373548 NM_004964.2 SUCCESS | |
| HDAC1 3065 GRCh37 1 32796029 32796029 + intron_variant Intron SNP C T rs1158005509 CW2_LARGE_INTESTINE ENST00000373548.3:c.730-150C>T p.*244* ENST00000373548 NM_004964.2 SUCCESS | |
| HDAC1 3065 GRCh37 1 32796087 32796087 + intron_variant Intron SNP G C JMSU1_URINARY_TRACT ENST00000373548.3:c.730-92G>C p.*244* ENST00000373548 NM_004964.2 SUCCESS | |
| HDAC1 3065 GRCh37 1 32796094 32796094 + intron_variant Intron SNP T C rs1570041089 KU812_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000373548.3:c.730-85T>C p.*244* ENST00000373548 NM_004964.2 SUCCESS | |
| HDAC1 3065 GRCh37 1 32796197 32796197 + missense_variant Missense_Mutation SNP G A SNU1040_LARGE_INTESTINE ENST00000373548.3:c.748G>A p.Glu250Lys p.E250K ENST00000373548 NM_004964.2 250 Gag/Aag 8/14 SUCCESS | |
| HDAC1 3065 GRCh37 1 32796374 32796374 + missense_variant Missense_Mutation SNP G A rs1265388078 SW48_LARGE_INTESTINE ENST00000373548.3:c.844G>A p.Ala282Thr p.A282T ENST00000373548 NM_004964.2 282 Gcc/Acc 9/14 SUCCESS | |
| HDAC1 3065 GRCh37 1 32796437 32796437 + missense_variant Missense_Mutation SNP T C CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000373548.3:c.907T>C p.Tyr303His p.Y303H ENST00000373548 NM_004964.2 303 Tac/Cac 9/14 SUCCESS | |
| HDAC1 3065 GRCh37 1 32797735 32797735 + missense_variant Missense_Mutation SNP G A SNU175_LARGE_INTESTINE ENST00000373548.3:c.1264G>A p.Asp422Asn p.D422N ENST00000373548 NM_004964.2 422 Gat/Aat 12/14 SUCCESS | |
| HDAC1 3065 GRCh37 1 32797763 32797763 + missense_variant Missense_Mutation SNP G A MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000373548.3:c.1292G>A p.Arg431His p.R431H ENST00000373548 NM_004964.2 431 cGc/cAc 12/14 SUCCESS | |
| HDAC1 3065 GRCh37 1 32797794 32797794 + missense_variant Missense_Mutation SNP G T CL34_LARGE_INTESTINE ENST00000373548.3:c.1323G>T p.Lys441Asn p.K441N ENST00000373548 NM_004964.2 441 aaG/aaT 12/14 SUCCESS | |
| 1 32797831 32797833 GAG GAG ISHIKAWAHERAKLIO02ER_ENDOMETRIUM FAILED | |
| 1 32797831 32797833 GAG GAG LNCAPCLONEFGC_PROSTATE FAILED | |
| HDAC1 3065 GRCh37 1 32798310 32798310 + missense_variant Missense_Mutation SNP G A rs756997212 KM12_LARGE_INTESTINE ENST00000373548.3:c.1381G>A p.Glu461Lys p.E461K ENST00000373548 NM_004964.2 461 Gaa/Aaa 13/14 SUCCESS | |
| HDAC1 3065 GRCh37 1 32798310 32798310 + missense_variant Missense_Mutation SNP G A rs756997212 SNU81_LARGE_INTESTINE ENST00000373548.3:c.1381G>A p.Glu461Lys p.E461K ENST00000373548 NM_004964.2 461 Gaa/Aaa 13/14 SUCCESS | |
| 1 32798326 32798328 AGG AGG GP2D_LARGE_INTESTINE FAILED | |
| 1 32798326 32798328 AGG AGG HEC151_ENDOMETRIUM FAILED | |
| HDAC1 3065 GRCh37 1 32798622 32798622 + missense_variant Missense_Mutation SNP A C SKMEL28_SKIN ENST00000373548.3:c.1426A>C p.Lys476Gln p.K476Q ENST00000373548 NM_004964.2 476 Aag/Cag 14/14 SUCCESS | |
| HDAC1 3065 GRCh37 1 32798678 32798678 + 3_prime_UTR_variant 3'UTR SNP T C HEC6_ENDOMETRIUM ENST00000373548.3:c.*33T>C ENST00000373548 NM_004964.2 14/14 SUCCESS | |
| HDAC1 3065 GRCh37 1 32798685 32798685 + 3_prime_UTR_variant 3'UTR SNP C T rs1170893162 HEC108_ENDOMETRIUM ENST00000373548.3:c.*40C>T ENST00000373548 NM_004964.2 14/14 SUCCESS | |
| HDAC1 3065 GRCh37 1 32798717 32798717 + 3_prime_UTR_variant 3'UTR SNP T C HEC59_ENDOMETRIUM ENST00000373548.3:c.*72T>C ENST00000373548 NM_004964.2 14/14 SUCCESS | |
| TSSK3 81629 GRCh37 1 32828148 32828148 + 5_prime_UTR_variant 5'UTR SNP C A A253_SALIVARY_GLAND ENST00000373534.3:c.-155C>A p.*52* ENST00000373534 NM_052841.3 1/2 SUCCESS | |
| 1 32828157 32828160 CAGA CAGA ACCMESO1_PLEURA FAILED | |
| 1 32828157 32828160 CAGA CAGA ECGI10_OESOPHAGUS FAILED | |
| 1 32828157 32828160 CAGA CAGA RERFLCAD2_LUNG FAILED | |
| 1 32828157 32828160 CAGA CAGA TE6_OESOPHAGUS FAILED | |
| 1 32828162 32828163 AG AG HCC1195_LUNG FAILED | |
| 1 32828162 32828163 AG AG NCIH2110_LUNG FAILED | |
| 1 32828162 32828163 AG AG P3HR1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 32828162 32828163 AG AG RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 32828162 32828163 AG AG SCABER_URINARY_TRACT FAILED | |
| 1 32828180 32828180 G G HLFA_LUNG FAILED | |
| TSSK3 81629 GRCh37 1 32828192 32828192 + 5_prime_UTR_variant 5'UTR SNP G A RT4_URINARY_TRACT ENST00000373534.3:c.-111G>A p.*37* ENST00000373534 NM_052841.3 1/2 SUCCESS | |
| 1 32828364 32828368 ACTCA ACTCA ONS76_CENTRAL_NERVOUS_SYSTEM FAILED | |
| TSSK3 81629 GRCh37 1 32828383 32828384 + frameshift_variant Frame_Shift_Ins INS - T rs762720203 KYSE180_OESOPHAGUS ENST00000373534.3:c.85dup p.Ser29PhefsTer11 p.S29Ffs*11 ENST00000373534 NM_052841.3 27 -/T 1/2 SUCCESS | |
| TSSK3 81629 GRCh37 1 32828426 32828426 + missense_variant Missense_Mutation SNP G C NCIH1341_LUNG ENST00000373534.3:c.124G>C p.Asp42His p.D42H ENST00000373534 NM_052841.3 42 Gac/Cac 1/2 SUCCESS | |
| TSSK3 81629 GRCh37 1 32829232 32829233 + missense_variant Missense_Mutation DNP TC CT NCIH810_LUNG ENST00000373534.3:c.182_183delinsCT p.Ile61Thr p.I61T ENST00000373534 NM_052841.3 61 aTC/aCT 2/2 SUCCESS | |
| TSSK3 81629 GRCh37 1 32829237 32829237 + missense_variant Missense_Mutation SNP C G rs184256666 HEC108_ENDOMETRIUM ENST00000373534.3:c.187C>G p.Arg63Gly p.R63G ENST00000373534 NM_052841.3 63 Cgt/Ggt 2/2 SUCCESS | |
| TSSK3 81629 GRCh37 1 32829237 32829237 + missense_variant Missense_Mutation SNP C G rs184256666 SNU489_CENTRAL_NERVOUS_SYSTEM ENST00000373534.3:c.187C>G p.Arg63Gly p.R63G ENST00000373534 NM_052841.3 63 Cgt/Ggt 2/2 SUCCESS | |
| TSSK3 81629 GRCh37 1 32829237 32829237 + missense_variant Missense_Mutation SNP C G rs184256666 SNUC5_LARGE_INTESTINE ENST00000373534.3:c.187C>G p.Arg63Gly p.R63G ENST00000373534 NM_052841.3 63 Cgt/Ggt 2/2 SUCCESS | |
| TSSK3 81629 GRCh37 1 32829277 32829277 + missense_variant Missense_Mutation SNP T C rs973886290 697_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000373534.3:c.227T>C p.Met76Thr p.M76T ENST00000373534 NM_052841.3 76 aTg/aCg 2/2 SUCCESS | |
| TSSK3 81629 GRCh37 1 32829321 32829321 + missense_variant Missense_Mutation SNP G A rs201115542 BICR16_UPPER_AERODIGESTIVE_TRACT ENST00000373534.3:c.271G>A p.Ala91Thr p.A91T ENST00000373534 NM_052841.3 91 Gct/Act 2/2 SUCCESS | |
| TSSK3 81629 GRCh37 1 32829328 32829328 + missense_variant Missense_Mutation SNP G A KYSE410_OESOPHAGUS ENST00000373534.3:c.278G>A p.Gly93Glu p.G93E ENST00000373534 NM_052841.3 93 gGa/gAa 2/2 SUCCESS | |
| TSSK3 81629 GRCh37 1 32829417 32829417 + missense_variant Missense_Mutation SNP C A HCT15_LARGE_INTESTINE ENST00000373534.3:c.367C>A p.Arg123Ser p.R123S ENST00000373534 NM_052841.3 123 Cgc/Agc 2/2 SUCCESS | |
| TSSK3 81629 GRCh37 1 32829676 32829676 + missense_variant Missense_Mutation SNP C T rs1304400391 HCC70_BREAST ENST00000373534.3:c.626C>T p.Pro209Leu p.P209L ENST00000373534 NM_052841.3 209 cCt/cTt 2/2 SUCCESS | |
| 1 32829677 32829677 T T LS411N_LARGE_INTESTINE FAILED | |
| TSSK3 81629 GRCh37 1 32829701 32829701 + missense_variant Missense_Mutation SNP G T HEC251_ENDOMETRIUM ENST00000373534.3:c.651G>T p.Lys217Asn p.K217N ENST00000373534 NM_052841.3 217 aaG/aaT 2/2 SUCCESS | |
| 1 32829722 32829722 G G 2313287_STOMACH FAILED | |
| TSSK3 81629 GRCh37 1 32829757 32829757 + missense_variant Missense_Mutation SNP C T AM38_CENTRAL_NERVOUS_SYSTEM ENST00000373534.3:c.707C>T p.Ala236Val p.A236V ENST00000373534 NM_052841.3 236 gCc/gTc 2/2 SUCCESS | |
| TSSK3 81629 GRCh37 1 32829807 32829807 + missense_variant Missense_Mutation SNP C T rs201078295 CAMA1_BREAST ENST00000373534.3:c.757C>T p.Arg253Trp p.R253W ENST00000373534 NM_052841.3 253 Cgg/Tgg 2/2 SUCCESS | |
| FAM229A 100128071 GRCh37 1 32829913 32829914 + upstream_gene_variant 5'Flank INS - C A204_SOFT_TISSUE ENST00000432622 NM_001167676.1 SUCCESS | |
| FAM229A 100128071 GRCh37 1 32829913 32829914 + upstream_gene_variant 5'Flank INS - C PK45H_PANCREAS ENST00000432622 NM_001167676.1 SUCCESS | |
| 1 35649936 35649936 A A RERFLCAD1_LUNG FAILED | |
| 1 35650019 35650022 AAAC AAAC SNU1272_KIDNEY FAILED | |
| 1 35650023 35650026 AAAA AAAA CORL279_LUNG FAILED | |
| SFPQ 6421 GRCh37 1 35650047 35650047 + 3_prime_UTR_variant 3'UTR SNP A T SKNMC_BONE ENST00000357214.5:c.*10T>A ENST00000357214 NM_005066.2 10/10 SUCCESS | |
| SFPQ 6421 GRCh37 1 35650064 35650064 + missense_variant Missense_Mutation SNP C T rs754019584 HEC251_ENDOMETRIUM ENST00000357214.5:c.2117G>A p.Arg706Gln p.R706Q ENST00000357214 NM_005066.2 706 cGa/cAa 10/10 SUCCESS | |
| SFPQ 6421 GRCh37 1 35653648 35653648 + missense_variant Missense_Mutation SNP G A rs1254190174 22RV1_PROSTATE ENST00000357214.5:c.1741C>T p.Arg581Cys p.R581C ENST00000357214 NM_005066.2 581 Cgt/Tgt 7/10 SUCCESS | |
| SFPQ 6421 GRCh37 1 35656149 35656149 + missense_variant Missense_Mutation SNP A T rs759923381 IALM_LUNG ENST00000357214.5:c.1365T>A p.Asp455Glu p.D455E ENST00000357214 NM_005066.2 455 gaT/gaA 4/10 SUCCESS | |
| SFPQ 6421 GRCh37 1 35656330 35656330 + missense_variant Missense_Mutation SNP A T HEC251_ENDOMETRIUM ENST00000357214.5:c.1284T>A p.Phe428Leu p.F428L ENST00000357214 NM_005066.2 428 ttT/ttA 3/10 SUCCESS | |
| SFPQ 6421 GRCh37 1 35656374 35656374 + missense_variant Missense_Mutation SNP C T NCIH1105_LUNG ENST00000357214.5:c.1240G>A p.Gly414Ser p.G414S ENST00000357214 NM_005066.2 414 Ggc/Agc 3/10 SUCCESS | |
| SFPQ 6421 GRCh37 1 35656415 35656415 + missense_variant Missense_Mutation SNP G A HT115_LARGE_INTESTINE ENST00000357214.5:c.1199C>T p.Ala400Val p.A400V ENST00000357214 NM_005066.2 400 gCt/gTt 3/10 SUCCESS | |
| SFPQ 6421 GRCh37 1 35656487 35656488 + missense_variant Missense_Mutation DNP CG AA NCIH2286_LUNG ENST00000357214.5:c.1126_1127delinsTT p.Arg376Phe p.R376F ENST00000357214 NM_005066.2 376 CGt/TTt 3/10 SUCCESS | |
| SFPQ 6421 GRCh37 1 35656563 35656563 + missense_variant Missense_Mutation SNP C G RT112_URINARY_TRACT ENST00000357214.5:c.1051G>C p.Glu351Gln p.E351Q ENST00000357214 NM_005066.2 351 Gaa/Caa 3/10 SUCCESS | |
| SFPQ 6421 GRCh37 1 35657020 35657020 + missense_variant Missense_Mutation SNP G C BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000357214.5:c.939C>G p.Phe313Leu p.F313L ENST00000357214 NM_005066.2 313 ttC/ttG 2/10 SUCCESS | |
| SFPQ 6421 GRCh37 1 35658683 35658683 + 5_prime_UTR_variant 5'UTR SNP G T BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000357214.5:c.-33C>A p.*11* ENST00000357214 NM_005066.2 1/10 SUCCESS | |
| THRAP3 9967 GRCh37 1 36748174 36748174 + missense_variant Missense_Mutation SNP A T CW2_LARGE_INTESTINE ENST00000354618.5:c.10A>T p.Thr4Ser p.T4S ENST00000354618 NM_005119.3 4 Aca/Tca 3/12 SUCCESS | |
| THRAP3 9967 GRCh37 1 36748178 36748178 + missense_variant Missense_Mutation SNP A T NCIH1436_LUNG ENST00000354618.5:c.14A>T p.Asn5Ile p.N5I ENST00000354618 NM_005119.3 5 aAc/aTc 3/12 SUCCESS | |
| THRAP3 9967 GRCh37 1 36748223 36748223 + stop_gained Nonsense_Mutation SNP C G DMS273_LUNG ENST00000354618.5:c.59C>G p.Ser20Ter p.S20* ENST00000354618 NM_005119.3 20 tCa/tGa 3/12 SUCCESS | |
| THRAP3 9967 GRCh37 1 36748268 36748268 + missense_variant Missense_Mutation SNP G A rs761639875 MFE319_ENDOMETRIUM ENST00000354618.5:c.104G>A p.Arg35Gln p.R35Q ENST00000354618 NM_005119.3 35 cGa/cAa 3/12 SUCCESS | |
| THRAP3 9967 GRCh37 1 36752021 36752021 + missense_variant Missense_Mutation SNP C T NCIH1651_LUNG ENST00000354618.5:c.190C>T p.His64Tyr p.H64Y ENST00000354618 NM_005119.3 64 Cac/Tac 4/12 SUCCESS | |
| THRAP3 9967 GRCh37 1 36752195 36752195 + stop_gained Nonsense_Mutation SNP C T SNUC5_LARGE_INTESTINE ENST00000354618.5:c.364C>T p.Arg122Ter p.R122* ENST00000354618 NM_005119.3 122 Cga/Tga 4/12 SUCCESS | |
| THRAP3 9967 GRCh37 1 36752288 36752288 + missense_variant Missense_Mutation SNP C T 22RV1_PROSTATE ENST00000354618.5:c.457C>T p.Arg153Trp p.R153W ENST00000354618 NM_005119.3 153 Cgg/Tgg 4/12 SUCCESS | |
| THRAP3 9967 GRCh37 1 36752298 36752298 + missense_variant Missense_Mutation SNP G T NCIH2342_LUNG ENST00000354618.5:c.467G>T p.Arg156Leu p.R156L ENST00000354618 NM_005119.3 156 cGc/cTc 4/12 SUCCESS | |
| THRAP3 9967 GRCh37 1 36752453 36752453 + missense_variant Missense_Mutation SNP G A rs376567312 MDAMB453_BREAST ENST00000354618.5:c.622G>A p.Gly208Arg p.G208R ENST00000354618 NM_005119.3 208 Gga/Aga 4/12 SUCCESS | |
| THRAP3 9967 GRCh37 1 36752844 36752844 + missense_variant Missense_Mutation SNP C T rs532099670 LNCAPCLONEFGC_PROSTATE ENST00000354618.5:c.1013C>T p.Ala338Val p.A338V ENST00000354618 NM_005119.3 338 gCt/gTt 4/12 SUCCESS | |
| THRAP3 9967 GRCh37 1 36754825 36754825 + missense_variant Missense_Mutation SNP C T MEWO_SKIN ENST00000354618.5:c.1205C>T p.Pro402Leu p.P402L ENST00000354618 NM_005119.3 402 cCt/cTt 5/12 SUCCESS | |
| THRAP3 9967 GRCh37 1 36754975 36754975 + missense_variant Missense_Mutation SNP T G JHUEM7_ENDOMETRIUM ENST00000354618.5:c.1355T>G p.Phe452Cys p.F452C ENST00000354618 NM_005119.3 452 tTt/tGt 5/12 SUCCESS | |
| THRAP3 9967 GRCh37 1 36755043 36755043 + missense_variant Missense_Mutation SNP G A rs774069228 SKUT1_SOFT_TISSUE ENST00000354618.5:c.1423G>A p.Val475Ile p.V475I ENST00000354618 NM_005119.3 475 Gta/Ata 5/12 SUCCESS | |
| THRAP3 9967 GRCh37 1 36755047 36755047 + missense_variant Missense_Mutation SNP A G CAL62_THYROID ENST00000354618.5:c.1427A>G p.Tyr476Cys p.Y476C ENST00000354618 NM_005119.3 476 tAt/tGt 5/12 SUCCESS | |
| THRAP3 9967 GRCh37 1 36755074 36755075 + frameshift_variant Frame_Shift_Ins INS - A EN_ENDOMETRIUM ENST00000354618.5:c.1459dup p.Thr487AsnfsTer32 p.T487Nfs*32 ENST00000354618 NM_005119.3 485 aga/agAa 5/12 SUCCESS | |
| THRAP3 9967 GRCh37 1 36755140 36755140 + missense_variant Missense_Mutation SNP G T JHUEM7_ENDOMETRIUM ENST00000354618.5:c.1520G>T p.Arg507Ile p.R507I ENST00000354618 NM_005119.3 507 aGa/aTa 5/12 SUCCESS | |
| THRAP3 9967 GRCh37 1 36755253 36755253 + stop_gained Nonsense_Mutation SNP C T NCIH810_LUNG ENST00000354618.5:c.1633C>T p.Arg545Ter p.R545* ENST00000354618 NM_005119.3 545 Cga/Tga 5/12 SUCCESS | |
| THRAP3 9967 GRCh37 1 36757063 36757063 + missense_variant Missense_Mutation SNP C G KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000354618.5:c.1834C>G p.Gln612Glu p.Q612E ENST00000354618 NM_005119.3 612 Cag/Gag 6/12 SUCCESS | |
| THRAP3 9967 GRCh37 1 36758200 36758200 + missense_variant,splice_region_variant Missense_Mutation SNP G T NCIH82_LUNG ENST00000354618.5:c.1920G>T p.Glu640Asp p.E640D ENST00000354618 NM_005119.3 640 gaG/gaT 7/12 SUCCESS | |
| THRAP3 9967 GRCh37 1 36758217 36758217 + stop_gained Nonsense_Mutation SNP C A KMBC2_URINARY_TRACT ENST00000354618.5:c.1937C>A p.Ser646Ter p.S646* ENST00000354618 NM_005119.3 646 tCa/tAa 7/12 SUCCESS | |
| THRAP3 9967 GRCh37 1 36758259 36758259 + missense_variant Missense_Mutation SNP G C rs758674917 NCIH1651_LUNG ENST00000354618.5:c.1979G>C p.Arg660Thr p.R660T ENST00000354618 NM_005119.3 660 aGa/aCa 7/12 SUCCESS | |
| THRAP3 9967 GRCh37 1 36758279 36758279 + missense_variant Missense_Mutation SNP G A HARA_LUNG ENST00000354618.5:c.1999G>A p.Ala667Thr p.A667T ENST00000354618 NM_005119.3 667 Gcc/Acc 7/12 SUCCESS | |
| THRAP3 9967 GRCh37 1 36759472 36759472 + missense_variant Missense_Mutation SNP G A HEC108_ENDOMETRIUM ENST00000354618.5:c.2051G>A p.Ser684Asn p.S684N ENST00000354618 NM_005119.3 684 aGt/aAt 8/12 SUCCESS | |
| THRAP3 9967 GRCh37 1 36759484 36759484 + missense_variant Missense_Mutation SNP A G rs754984838 OV90_OVARY ENST00000354618.5:c.2063A>G p.Lys688Arg p.K688R ENST00000354618 NM_005119.3 688 aAa/aGa 8/12 SUCCESS | |
| THRAP3 9967 GRCh37 1 36762269 36762269 + missense_variant Missense_Mutation SNP G A rs140506294 NCIH2172_LUNG ENST00000354618.5:c.2201G>A p.Arg734Gln p.R734Q ENST00000354618 NM_005119.3 734 cGa/cAa 9/12 SUCCESS | |
| THRAP3 9967 GRCh37 1 36762331 36762332 + frameshift_variant Frame_Shift_Ins INS - A rs1443424346 LOVO_LARGE_INTESTINE ENST00000354618.5:c.2269dup p.Thr757AsnfsTer6 p.T757Nfs*6 ENST00000354618 NM_005119.3 755 gaa/gAaa 9/12 SUCCESS | |
| THRAP3 9967 GRCh37 1 36766521 36766521 + missense_variant Missense_Mutation SNP T A HCT15_LARGE_INTESTINE ENST00000354618.5:c.2338T>A p.Ser780Thr p.S780T ENST00000354618 NM_005119.3 780 Tcc/Acc 10/12 SUCCESS | |
| THRAP3 9967 GRCh37 1 36766569 36766569 + missense_variant Missense_Mutation SNP A G rs1447772974 SNUC5_LARGE_INTESTINE ENST00000354618.5:c.2386A>G p.Thr796Ala p.T796A ENST00000354618 NM_005119.3 796 Act/Gct 10/12 SUCCESS | |
| THRAP3 9967 GRCh37 1 36767153 36767153 + splice_acceptor_variant Splice_Site SNP G A HT115_LARGE_INTESTINE ENST00000354618.5:c.2503-1G>A p.X835_splice ENST00000354618 NM_005119.3 835 SUCCESS | |
| THRAP3 9967 GRCh37 1 36769440 36769440 + missense_variant Missense_Mutation SNP G T LS123_LARGE_INTESTINE ENST00000354618.5:c.2690G>T p.Arg897Leu p.R897L ENST00000354618 NM_005119.3 897 cGg/cTg 12/12 SUCCESS | |
| THRAP3 9967 GRCh37 1 36769445 36769445 + missense_variant Missense_Mutation SNP C T rs201119618 SW1990_PANCREAS ENST00000354618.5:c.2695C>T p.Arg899Trp p.R899W ENST00000354618 NM_005119.3 899 Cgg/Tgg 12/12 SUCCESS | |
| THRAP3 9967 GRCh37 1 36769581 36769581 + missense_variant Missense_Mutation SNP G A rs1205189924 SNU520_STOMACH ENST00000354618.5:c.2831G>A p.Arg944Gln p.R944Q ENST00000354618 NM_005119.3 944 cGa/cAa 12/12 SUCCESS | |
| THRAP3 9967 GRCh37 1 36769611 36769611 + missense_variant Missense_Mutation SNP C T rs1350093196 SUPT11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000354618.5:c.2861C>T p.Thr954Ile p.T954I ENST00000354618 NM_005119.3 954 aCc/aTc 12/12 SUCCESS | |
| THRAP3 9967 GRCh37 1 36769624 36769624 + 3_prime_UTR_variant 3'UTR SNP A G RKO_LARGE_INTESTINE ENST00000354618.5:c.*6A>G ENST00000354618 NM_005119.3 12/12 SUCCESS | |
| STK40 83931 GRCh37 1 36807346 36807346 + 3_prime_UTR_variant 3'UTR SNP G A rs754177104 IM95_STOMACH ENST00000373129.3:c.*10C>T ENST00000373129 NM_032017.1 12/12 SUCCESS | |
| STK40 83931 GRCh37 1 36807378 36807378 + missense_variant Missense_Mutation SNP G A rs780818464 G361_SKIN ENST00000373129.3:c.1286C>T p.Ala429Val p.A429V ENST00000373129 NM_032017.1 429 gCg/gTg 12/12 SUCCESS | |
| STK40 83931 GRCh37 1 36807410 36807410 + missense_variant Missense_Mutation SNP C A LS411N_LARGE_INTESTINE ENST00000373129.3:c.1254G>T p.Gln418His p.Q418H ENST00000373129 NM_032017.1 418 caG/caT 12/12 SUCCESS | |
| STK40 83931 GRCh37 1 36807432 36807432 + missense_variant Missense_Mutation SNP C T rs758522274 DU4475_BREAST ENST00000373129.3:c.1232G>A p.Arg411Gln p.R411Q ENST00000373129 NM_032017.1 411 cGa/cAa 12/12 SUCCESS | |
| STK40 83931 GRCh37 1 36807564 36807564 + missense_variant Missense_Mutation SNP G A rs202225847 LOVO_LARGE_INTESTINE ENST00000373129.3:c.1100C>T p.Thr367Met p.T367M ENST00000373129 NM_032017.1 367 aCg/aTg 12/12 SUCCESS | |
| STK40 83931 GRCh37 1 36808931 36808931 + intron_variant Intron SNP C A DV90_LUNG ENST00000373129.3:c.1089+34G>T p.*363* ENST00000373129 NM_032017.1 SUCCESS | |
| STK40 83931 GRCh37 1 36809470 36809470 + missense_variant Missense_Mutation SNP A T SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000373129.3:c.995T>A p.Ile332Asn p.I332N ENST00000373129 NM_032017.1 332 aTt/aAt 10/12 SUCCESS | |
| STK40 83931 GRCh37 1 36809555 36809555 + missense_variant Missense_Mutation SNP C A NCIH1568_LUNG ENST00000373129.3:c.910G>T p.Val304Leu p.V304L ENST00000373129 NM_032017.1 304 Gtg/Ttg 10/12 SUCCESS | |
| STK40 83931 GRCh37 1 36809806 36809806 + missense_variant Missense_Mutation SNP T C rs572867841 GDM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000373129.3:c.799A>G p.Met267Val p.M267V ENST00000373129 NM_032017.1 267 Atg/Gtg 9/12 SUCCESS | |
| 1 36809835 36809836 AT AT SNU475_LIVER FAILED | |
| STK40 83931 GRCh37 1 36809854 36809854 + missense_variant Missense_Mutation SNP G A rs749198474 HEC59_ENDOMETRIUM ENST00000373129.3:c.751C>T p.Arg251Cys p.R251C ENST00000373129 NM_032017.1 251 Cgt/Tgt 9/12 SUCCESS | |
| STK40 83931 GRCh37 1 36809854 36809854 + missense_variant Missense_Mutation SNP G A rs749198474 HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000373129.3:c.751C>T p.Arg251Cys p.R251C ENST00000373129 NM_032017.1 251 Cgt/Tgt 9/12 SUCCESS | |
| STK40 83931 GRCh37 1 36809854 36809854 + missense_variant Missense_Mutation SNP G A rs749198474 MFE319_ENDOMETRIUM ENST00000373129.3:c.751C>T p.Arg251Cys p.R251C ENST00000373129 NM_032017.1 251 Cgt/Tgt 9/12 SUCCESS | |
| STK40 83931 GRCh37 1 36819967 36819967 + missense_variant,splice_region_variant Missense_Mutation SNP C G NCIH716_LARGE_INTESTINE ENST00000373129.3:c.621G>C p.Lys207Asn p.K207N ENST00000373129 NM_032017.1 207 aaG/aaC 7/12 SUCCESS | |
| STK40 83931 GRCh37 1 36819991 36819991 + missense_variant Missense_Mutation SNP C A SW48_LARGE_INTESTINE ENST00000373129.3:c.597G>T p.Lys199Asn p.K199N ENST00000373129 NM_032017.1 199 aaG/aaT 7/12 SUCCESS | |
| STK40 83931 GRCh37 1 36820812 36820812 + missense_variant Missense_Mutation SNP G A CAMA1_BREAST ENST00000373129.3:c.565C>T p.His189Tyr p.H189Y ENST00000373129 NM_032017.1 189 Cac/Tac 6/12 SUCCESS | |
| STK40 83931 GRCh37 1 36820892 36820892 + missense_variant Missense_Mutation SNP T C rs113611506 EN_ENDOMETRIUM ENST00000373129.3:c.485A>G p.Tyr162Cys p.Y162C ENST00000373129 NM_032017.1 162 tAc/tGc 6/12 SUCCESS | |
| STK40 83931 GRCh37 1 36820979 36820979 + missense_variant Missense_Mutation SNP A G rs755089893 ISHIKAWAHERAKLIO02ER_ENDOMETRIUM ENST00000373129.3:c.398T>C p.Met133Thr p.M133T ENST00000373129 NM_032017.1 133 aTg/aCg 6/12 SUCCESS | |
| STK40 83931 GRCh37 1 36823931 36823931 + missense_variant Missense_Mutation SNP C T rs747619342 HEC6_ENDOMETRIUM ENST00000373129.3:c.251G>A p.Arg84Gln p.R84Q ENST00000373129 NM_032017.1 84 cGg/cAg 5/12 SUCCESS | |
| STK40 83931 GRCh37 1 36824418 36824418 + missense_variant Missense_Mutation SNP G A rs767722663 RKO_LARGE_INTESTINE ENST00000373129.3:c.118C>T p.Arg40Cys p.R40C ENST00000373129 NM_032017.1 40 Cgt/Tgt 4/12 SUCCESS | |
| STK40 83931 GRCh37 1 36826924 36826924 + stop_gained Nonsense_Mutation SNP T A NCIH841_LUNG ENST00000373129.3:c.10A>T p.Arg4Ter p.R4* ENST00000373129 NM_032017.1 4 Aga/Tga 3/12 SUCCESS | |
| CSF3R 1441 GRCh37 1 36931724 36931724 + 3_prime_UTR_variant 3'UTR SNP G A HEC1A_ENDOMETRIUM ENST00000361632.4:c.*234C>T ENST00000361632 16/16 SUCCESS | |
| CSF3R 1441 GRCh37 1 36931724 36931724 + 3_prime_UTR_variant 3'UTR SNP G A HEC1B_ENDOMETRIUM ENST00000361632.4:c.*234C>T ENST00000361632 16/16 SUCCESS | |
| CSF3R 1441 GRCh37 1 36931785 36931785 + 3_prime_UTR_variant 3'UTR SNP C T rs777880216 CL34_LARGE_INTESTINE ENST00000361632.4:c.*173G>A ENST00000361632 16/16 SUCCESS | |
| CSF3R 1441 GRCh37 1 36931811 36931811 + 3_prime_UTR_variant 3'UTR SNP T C rs768258728 NCIH650_LUNG ENST00000361632.4:c.*147A>G ENST00000361632 16/16 SUCCESS | |
| CSF3R 1441 GRCh37 1 36931882 36931882 + 3_prime_UTR_variant 3'UTR SNP C T rs144368887 CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000361632.4:c.*76G>A ENST00000361632 16/16 SUCCESS | |
| CSF3R 1441 GRCh37 1 36931882 36931882 + 3_prime_UTR_variant 3'UTR SNP C T rs144368887 COLO680N_OESOPHAGUS ENST00000361632.4:c.*76G>A ENST00000361632 16/16 SUCCESS | |
| CSF3R 1441 GRCh37 1 36931941 36931941 + 3_prime_UTR_variant 3'UTR SNP G A MFE319_ENDOMETRIUM ENST00000361632.4:c.*17C>T ENST00000361632 16/16 SUCCESS | |
| CSF3R 1441 GRCh37 1 36931974 36931974 + missense_variant Missense_Mutation SNP G A rs372972496 SNU1040_LARGE_INTESTINE ENST00000361632.4:c.2495C>T p.Ala832Val p.A832V ENST00000361632 832 gCg/gTg 16/16 SUCCESS | |
| CSF3R 1441 GRCh37 1 36932081 36932081 + synonymous_variant Silent SNP G A rs199919618 JHOS2_OVARY ENST00000361632.4:c.2388C>T p.Pro796= p.P796= ENST00000361632 796 ccC/ccT 16/16 SUCCESS | |
| CSF3R 1441 GRCh37 1 36932081 36932081 + synonymous_variant Silent SNP G A rs199919618 KYSE520_OESOPHAGUS ENST00000361632.4:c.2388C>T p.Pro796= p.P796= ENST00000361632 796 ccC/ccT 16/16 SUCCESS | |
| CSF3R 1441 GRCh37 1 36932081 36932081 + synonymous_variant Silent SNP G A rs199919618 PK45H_PANCREAS ENST00000361632.4:c.2388C>T p.Pro796= p.P796= ENST00000361632 796 ccC/ccT 16/16 SUCCESS | |
| CSF3R 1441 GRCh37 1 36932164 36932164 + missense_variant Missense_Mutation SNP G A rs201556754 JHOS4_OVARY ENST00000361632.4:c.2305C>T p.Arg769Cys p.R769C ENST00000361632 769 Cgc/Tgc 16/16 SUCCESS | |
| CSF3R 1441 GRCh37 1 36932180 36932180 + synonymous_variant Silent SNP C T rs1481867581 A253_SALIVARY_GLAND ENST00000361632.4:c.2289G>A p.Gly763= p.G763= ENST00000361632 763 ggG/ggA 16/16 SUCCESS | |
| CSF3R 1441 GRCh37 1 36932354 36932354 + synonymous_variant Silent SNP C T rs373095416 NCIH510_LUNG ENST00000361632.4:c.2115G>A p.Lys705= p.K705= ENST00000361632 705 aaG/aaA 16/16 SUCCESS | |
| CSF3R 1441 GRCh37 1 36932364 36932364 + missense_variant Missense_Mutation SNP T C CW2_LARGE_INTESTINE ENST00000361632.4:c.2105A>G p.Asp702Gly p.D702G ENST00000361632 702 gAt/gGt 16/16 SUCCESS | |
| CSF3R 1441 GRCh37 1 36932399 36932399 + synonymous_variant Silent SNP C T rs761286829 SNU324_PANCREAS ENST00000361632.4:c.2070G>A p.Thr690= p.T690= ENST00000361632 690 acG/acA 16/16 SUCCESS | |
| CSF3R 1441 GRCh37 1 36932434 36932434 + splice_region_variant,intron_variant Splice_Region SNP C A JHH5_LIVER ENST00000361632.4:c.2041-6G>T p.X681_splice ENST00000361632 681 SUCCESS | |
| CSF3R 1441 GRCh37 1 36933493 36933493 + missense_variant Missense_Mutation SNP G C LC1F_LUNG ENST00000361632.4:c.1794C>G p.Ile598Met p.I598M ENST00000361632 598 atC/atG 13/16 SUCCESS | |
| CSF3R 1441 GRCh37 1 36933546 36933546 + missense_variant Missense_Mutation SNP A G DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000361632.4:c.1741T>C p.Ser581Pro p.S581P ENST00000361632 581 Tcc/Ccc 13/16 SUCCESS | |
| CSF3R 1441 GRCh37 1 36933579 36933579 + splice_polypyrimidine_tract_variant,intron_variant Splice_Region SNP G A rs1006744863 HEC6_ENDOMETRIUM ENST00000361632.4:c.1724-16C>T p.*575* ENST00000361632 SUCCESS | |
| CSF3R 1441 GRCh37 1 36933587 36933587 + intron_variant Intron SNP T C rs1365890372 PC3_PROSTATE ENST00000361632.4:c.1724-24A>G p.*575* ENST00000361632 SUCCESS | |
| CSF3R 1441 GRCh37 1 36933681 36933681 + missense_variant Missense_Mutation SNP G A rs752378580 NCIH1048_LUNG ENST00000361632.4:c.1718C>T p.Ser573Phe p.S573F ENST00000361632 573 tCc/tTc 12/16 SUCCESS | |
| CSF3R 1441 GRCh37 1 36933707 36933707 + synonymous_variant Silent SNP G T HEC251_ENDOMETRIUM ENST00000361632.4:c.1692C>A p.Ile564= p.I564= ENST00000361632 564 atC/atA 12/16 SUCCESS | |
| CSF3R 1441 GRCh37 1 36933742 36933742 + missense_variant Missense_Mutation SNP C T HCT15_LARGE_INTESTINE ENST00000361632.4:c.1657G>A p.Glu553Lys p.E553K ENST00000361632 553 Gag/Aag 12/16 SUCCESS | |
| CSF3R 1441 GRCh37 1 36934827 36934827 + synonymous_variant Silent SNP G A HEC59_ENDOMETRIUM ENST00000361632.4:c.1506C>T p.Ile502= p.I502= ENST00000361632 502 atC/atT 11/16 SUCCESS | |
| CSF3R 1441 GRCh37 1 36935276 36935276 + missense_variant Missense_Mutation SNP C G COLO679_SKIN ENST00000361632.4:c.1451G>C p.Arg484Thr p.R484T ENST00000361632 484 aGa/aCa 10/16 SUCCESS | |
| CSF3R 1441 GRCh37 1 36935322 36935323 + frameshift_variant Frame_Shift_Ins INS - G rs747437399 LNCAPCLONEFGC_PROSTATE ENST00000361632.4:c.1404dup p.Ser469GlnfsTer5 p.S469Qfs*5 ENST00000361632 468 -/C 10/16 SUCCESS | |
| CSF3R 1441 GRCh37 1 36937056 36937056 + synonymous_variant Silent SNP C T rs768308980 A4FUK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000361632.4:c.1263G>A p.Pro421= p.P421= ENST00000361632 421 ccG/ccA 9/16 SUCCESS | |
| CSF3R 1441 GRCh37 1 36937134 36937134 + synonymous_variant Silent SNP G A rs184980728 SNU213_PANCREAS ENST00000361632.4:c.1185C>T p.Cys395= p.C395= ENST00000361632 395 tgC/tgT 9/16 SUCCESS | |
| CSF3R 1441 GRCh37 1 36937134 36937134 + synonymous_variant Silent SNP G A rs184980728 SNU620_STOMACH ENST00000361632.4:c.1185C>T p.Cys395= p.C395= ENST00000361632 395 tgC/tgT 9/16 SUCCESS | |
| CSF3R 1441 GRCh37 1 36937170 36937170 + synonymous_variant Silent SNP G A rs1300070600 NCIH1930_LUNG ENST00000361632.4:c.1149C>T p.Ala383= p.A383= ENST00000361632 383 gcC/gcT 9/16 SUCCESS | |
| CSF3R 1441 GRCh37 1 36937223 36937223 + missense_variant Missense_Mutation SNP C T rs768170625 PC14_LUNG ENST00000361632.4:c.1096G>A p.Gly366Arg p.G366R ENST00000361632 366 Gga/Aga 9/16 SUCCESS | |
| CSF3R 1441 GRCh37 1 36937231 36937231 + missense_variant Missense_Mutation SNP T A MDST8_LARGE_INTESTINE ENST00000361632.4:c.1088A>T p.Glu363Val p.E363V ENST00000361632 363 gAa/gTa 9/16 SUCCESS | |
| CSF3R 1441 GRCh37 1 36938270 36938270 + missense_variant Missense_Mutation SNP T C OVK18_OVARY ENST00000361632.4:c.691A>G p.Met231Val p.M231V ENST00000361632 231 Atg/Gtg 6/16 SUCCESS | |
| CSF3R 1441 GRCh37 1 36941011 36941011 + stop_gained Nonsense_Mutation SNP G A RL952_ENDOMETRIUM ENST00000361632.4:c.328C>T p.Gln110Ter p.Q110* ENST00000361632 110 Cag/Tag 3/16 SUCCESS | |
| CSF3R 1441 GRCh37 1 36941026 36941026 + missense_variant Missense_Mutation SNP A T JHUEM7_ENDOMETRIUM ENST00000361632.4:c.313T>A p.Trp105Arg p.W105R ENST00000361632 105 Tgg/Agg 3/16 SUCCESS | |
| CSF3R 1441 GRCh37 1 36941103 36941103 + missense_variant Missense_Mutation SNP G A NCIH650_LUNG ENST00000361632.4:c.236C>T p.Ser79Phe p.S79F ENST00000361632 79 tCt/tTt 3/16 SUCCESS | |
| CSF3R 1441 GRCh37 1 36941185 36941185 + missense_variant Missense_Mutation SNP A C BCPAP_THYROID ENST00000361632.4:c.154T>G p.Cys52Gly p.C52G ENST00000361632 52 Tgc/Ggc 3/16 SUCCESS | |
| CSF3R 1441 GRCh37 1 36941221 36941221 + missense_variant Missense_Mutation SNP C T rs754120929 CMK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000361632.4:c.118G>A p.Asp40Asn p.D40N ENST00000361632 40 Gat/Aat 3/16 SUCCESS | |
| EPHA10 284656 GRCh37 1 38183965 38183965 + 3_prime_UTR_variant 3'UTR SNP C T rs544622181 MUTZ5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000373048.4:c.*79G>A ENST00000373048 NM_001099439.1 17/17 SUCCESS | |
| EPHA10 284656 GRCh37 1 38183974 38183974 + 3_prime_UTR_variant 3'UTR SNP C T MEWO_SKIN ENST00000373048.4:c.*70G>A ENST00000373048 NM_001099439.1 17/17 SUCCESS | |
| EPHA10 284656 GRCh37 1 38183994 38183994 + 3_prime_UTR_variant 3'UTR SNP T A NCIH1793_LUNG ENST00000373048.4:c.*50A>T ENST00000373048 NM_001099439.1 17/17 SUCCESS | |
| EPHA10 284656 GRCh37 1 38184012 38184012 + 3_prime_UTR_variant 3'UTR SNP C T LOVO_LARGE_INTESTINE ENST00000373048.4:c.*32G>A ENST00000373048 NM_001099439.1 17/17 SUCCESS | |
| EPHA10 284656 GRCh37 1 38184031 38184031 + 3_prime_UTR_variant 3'UTR SNP G A KYSE140_OESOPHAGUS ENST00000373048.4:c.*13C>T ENST00000373048 NM_001099439.1 17/17 SUCCESS | |
| EPHA10 284656 GRCh37 1 38184082 38184082 + stop_gained Nonsense_Mutation SNP G A rs769437580 HS578T_BREAST ENST00000373048.4:c.2989C>T p.Arg997Ter p.R997* ENST00000373048 NM_001099439.1 997 Cga/Tga 17/17 SUCCESS | |
| 1 38184441 38184443 AAG AAG DKMG_CENTRAL_NERVOUS_SYSTEM FAILED | |
| EPHA10 284656 GRCh37 1 38185171 38185171 + missense_variant Missense_Mutation SNP G A CCK81_LARGE_INTESTINE ENST00000373048.4:c.2671C>T p.Pro891Ser p.P891S ENST00000373048 NM_001099439.1 891 Ccc/Tcc 15/17 SUCCESS | |
| EPHA10 284656 GRCh37 1 38185174 38185174 + missense_variant Missense_Mutation SNP G A rs763878482 LS411N_LARGE_INTESTINE ENST00000373048.4:c.2668C>T p.Arg890Trp p.R890W ENST00000373048 NM_001099439.1 890 Cgg/Tgg 15/17 SUCCESS | |
| EPHA10 284656 GRCh37 1 38185213 38185213 + stop_gained Nonsense_Mutation SNP G A rs543219786 NCIH209_LUNG ENST00000373048.4:c.2629C>T p.Arg877Ter p.R877* ENST00000373048 NM_001099439.1 877 Cga/Tga 15/17 SUCCESS | |
| EPHA10 284656 GRCh37 1 38185594 38185594 + missense_variant Missense_Mutation SNP A G rs1273975115 NCIH82_LUNG ENST00000373048.4:c.2549T>C p.Met850Thr p.M850T ENST00000373048 NM_001099439.1 850 aTg/aCg 14/17 SUCCESS | |
| EPHA10 284656 GRCh37 1 38185637 38185637 + missense_variant Missense_Mutation SNP T G rs187414532 TE9_OESOPHAGUS ENST00000373048.4:c.2506A>C p.Met836Leu p.M836L ENST00000373048 NM_001099439.1 836 Atg/Ctg 14/17 SUCCESS | |
| EPHA10 284656 GRCh37 1 38186055 38186055 + missense_variant Missense_Mutation SNP G A rs763155424 MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000373048.4:c.2380C>T p.Arg794Trp p.R794W ENST00000373048 NM_001099439.1 794 Cgg/Tgg 13/17 SUCCESS | |
| 1 38186060 38186060 C C NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| EPHA10 284656 GRCh37 1 38186114 38186114 + missense_variant Missense_Mutation SNP C T rs201212979 HCC2218_BREAST ENST00000373048.4:c.2321G>A p.Arg774His p.R774H ENST00000373048 NM_001099439.1 774 cGc/cAc 13/17 SUCCESS | |
| EPHA10 284656 GRCh37 1 38186143 38186143 + missense_variant Missense_Mutation SNP C A KNS62_LUNG ENST00000373048.4:c.2292G>T p.Met764Ile p.M764I ENST00000373048 NM_001099439.1 764 atG/atT 13/17 SUCCESS | |
| EPHA10 284656 GRCh37 1 38186190 38186190 + missense_variant Missense_Mutation SNP C A NCIH358_LUNG ENST00000373048.4:c.2245G>T p.Gly749Trp p.G749W ENST00000373048 NM_001099439.1 749 Ggg/Tgg 13/17 SUCCESS | |
| EPHA10 284656 GRCh37 1 38186195 38186195 + missense_variant Missense_Mutation SNP A G RL952_ENDOMETRIUM ENST00000373048.4:c.2240T>C p.Leu747Pro p.L747P ENST00000373048 NM_001099439.1 747 cTg/cCg 13/17 SUCCESS | |
| EPHA10 284656 GRCh37 1 38187353 38187353 + missense_variant Missense_Mutation SNP G T HCC1395_BREAST ENST00000373048.4:c.2125C>A p.Leu709Met p.L709M ENST00000373048 NM_001099439.1 709 Ctg/Atg 11/17 SUCCESS | |
| EPHA10 284656 GRCh37 1 38187421 38187421 + stop_gained Nonsense_Mutation SNP G T TE1_OESOPHAGUS ENST00000373048.4:c.2057C>A p.Ser686Ter p.S686* ENST00000373048 NM_001099439.1 686 tCa/tAa 11/17 SUCCESS | |
| 1 38200950 38200950 G G KASUMI6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| EPHA10 284656 GRCh37 1 38200979 38200979 + missense_variant Missense_Mutation SNP C T G361_SKIN ENST00000373048.4:c.1441G>A p.Gly481Arg p.G481R ENST00000373048 NM_001099439.1 481 Gga/Aga 6/17 SUCCESS | |
| EPHA10 284656 GRCh37 1 38227290 38227290 + missense_variant Missense_Mutation SNP C T rs762339788 EFO27_OVARY ENST00000373048.4:c.637G>A p.Ala213Thr p.A213T ENST00000373048 NM_001099439.1 213 Gcc/Acc 3/17 SUCCESS | |
| EPHA10 284656 GRCh37 1 38227392 38227392 + missense_variant Missense_Mutation SNP C T rs1179124778 RI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000373048.4:c.535G>A p.Glu179Lys p.E179K ENST00000373048 NM_001099439.1 179 Gag/Aag 3/17 SUCCESS | |
| EPHA10 284656 GRCh37 1 38227447 38227447 + missense_variant Missense_Mutation SNP G T BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000373048.4:c.480C>A p.Ser160Arg p.S160R ENST00000373048 NM_001099439.1 160 agC/agA 3/17 SUCCESS | |
| EPHA10 284656 GRCh37 1 38227461 38227461 + missense_variant Missense_Mutation SNP C T NCIH1568_LUNG ENST00000373048.4:c.466G>A p.Ala156Thr p.A156T ENST00000373048 NM_001099439.1 156 Gcg/Acg 3/17 SUCCESS | |
| EPHA10 284656 GRCh37 1 38227575 38227575 + missense_variant Missense_Mutation SNP C T rs764288910 HCT15_LARGE_INTESTINE ENST00000373048.4:c.352G>A p.Ala118Thr p.A118T ENST00000373048 NM_001099439.1 118 Gcc/Acc 3/17 SUCCESS | |
| EPHA10 284656 GRCh37 1 38227635 38227635 + missense_variant Missense_Mutation SNP C T rs762731131 HCC1569_BREAST ENST00000373048.4:c.292G>A p.Gly98Arg p.G98R ENST00000373048 NM_001099439.1 98 Ggg/Agg 3/17 SUCCESS | |
| EPHA10 284656 GRCh37 1 38227641 38227641 + missense_variant Missense_Mutation SNP C A MORCPR_LUNG ENST00000373048.4:c.286G>T p.Gly96Cys p.G96C ENST00000373048 NM_001099439.1 96 Ggc/Tgc 3/17 SUCCESS | |
| EPHA10 284656 GRCh37 1 38228473 38228473 + missense_variant Missense_Mutation SNP G A SNU1040_LARGE_INTESTINE ENST00000373048.4:c.155C>T p.Ala52Val p.A52V ENST00000373048 NM_001099439.1 52 gCa/gTa 2/17 SUCCESS | |
| EPHA10 284656 GRCh37 1 38230675 38230675 + missense_variant Missense_Mutation SNP C T HT115_LARGE_INTESTINE ENST00000373048.4:c.64G>A p.Ala22Thr p.A22T ENST00000373048 NM_001099439.1 22 Gcg/Acg 1/17 SUCCESS | |
| MYCL 4610 GRCh37 1 40362792 40362792 + 3_prime_UTR_variant 3'UTR SNP C T SNU1105_CENTRAL_NERVOUS_SYSTEM ENST00000397332.2:c.*252G>A ENST00000397332 NM_001033082.2 3/3 SUCCESS | |
| MYCL 4610 GRCh37 1 40362895 40362895 + 3_prime_UTR_variant 3'UTR SNP T C rs188811133 SNU620_STOMACH ENST00000397332.2:c.*149A>G ENST00000397332 NM_001033082.2 3/3 SUCCESS | |
| MYCL 4610 GRCh37 1 40363017 40363017 + 3_prime_UTR_variant 3'UTR SNP G C rs1644491598 KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000397332.2:c.*27C>G ENST00000397332 NM_001033082.2 3/3 SUCCESS | |
| MYCL 4610 GRCh37 1 40363085 40363085 + missense_variant Missense_Mutation SNP G C rs747833878 HS822T_BONE ENST00000397332.2:c.1144C>G p.Gln382Glu p.Q382E ENST00000397332 NM_001033082.2 382 Cag/Gag 3/3 SUCCESS | |
| MYCL 4610 GRCh37 1 40363258 40363258 + missense_variant Missense_Mutation SNP C T rs199701756 HS739T_BREAST ENST00000397332.2:c.971G>A p.Arg324Gln p.R324Q ENST00000397332 NM_001033082.2 324 cGg/cAg 3/3 SUCCESS | |
| MYCL 4610 GRCh37 1 40363352 40363352 + stop_gained Nonsense_Mutation SNP C A SNUC5_LARGE_INTESTINE ENST00000397332.2:c.877G>T p.Glu293Ter p.E293* ENST00000397332 NM_001033082.2 293 Gag/Tag 3/3 SUCCESS | |
| MYCL 4610 GRCh37 1 40363363 40363363 + missense_variant Missense_Mutation SNP G T rs371912979 NCIH2405_LUNG ENST00000397332.2:c.866C>A p.Pro289His p.P289H ENST00000397332 NM_001033082.2 289 cCt/cAt 3/3 SUCCESS | |
| MYCL 4610 GRCh37 1 40363394 40363394 + stop_gained Nonsense_Mutation SNP C A DU145_PROSTATE ENST00000397332.2:c.835G>T p.Glu279Ter p.E279* ENST00000397332 NM_001033082.2 279 Gag/Tag 3/3 SUCCESS | |
| MYCL 4610 GRCh37 1 40363463 40363463 + missense_variant Missense_Mutation SNP C T rs751858236 MDAMB231_BREAST ENST00000397332.2:c.766G>A p.Glu256Lys p.E256K ENST00000397332 NM_001033082.2 256 Gaa/Aaa 3/3 SUCCESS | |
| MYCL 4610 GRCh37 1 40363514 40363514 + missense_variant Missense_Mutation SNP G T ONS76_CENTRAL_NERVOUS_SYSTEM ENST00000397332.2:c.715C>A p.Gln239Lys p.Q239K ENST00000397332 NM_001033082.2 239 Cag/Aag 3/3 SUCCESS | |
| MYCL 4610 GRCh37 1 40363518 40363518 + missense_variant Missense_Mutation SNP G C YKG1_CENTRAL_NERVOUS_SYSTEM ENST00000397332.2:c.711C>G p.Ile237Met p.I237M ENST00000397332 NM_001033082.2 237 atC/atG 3/3 SUCCESS | |
| MYCL 4610 GRCh37 1 40366352 40366352 + intron_variant Intron SNP C T rs185797836 KP2_PANCREAS ENST00000397332.2:c.586+259G>A p.*196* ENST00000397332 NM_001033082.2 SUCCESS | |
| MYCL 4610 GRCh37 1 40366352 40366352 + intron_variant Intron SNP C T rs185797836 SBC5_LUNG ENST00000397332.2:c.586+259G>A p.*196* ENST00000397332 NM_001033082.2 SUCCESS | |
| MYCL 4610 GRCh37 1 40366502 40366502 + intron_variant Intron SNP G A rs148276319 IM95_STOMACH ENST00000397332.2:c.586+109C>T p.*196* ENST00000397332 NM_001033082.2 SUCCESS | |
| MYCL 4610 GRCh37 1 40366557 40366557 + intron_variant Intron SNP G A rs1264022505 LNCAPCLONEFGC_PROSTATE ENST00000397332.2:c.586+54C>T p.*196* ENST00000397332 NM_001033082.2 SUCCESS | |
| MYCL 4610 GRCh37 1 40366734 40366734 + missense_variant Missense_Mutation SNP C A NCIH2110_LUNG ENST00000397332.2:c.463G>T p.Ala155Ser p.A155S ENST00000397332 NM_001033082.2 155 Gcg/Tcg 2/3 SUCCESS | |
| MYCL 4610 GRCh37 1 40366822 40366822 + missense_variant Missense_Mutation SNP C G NCIH650_LUNG ENST00000397332.2:c.375G>C p.Met125Ile p.M125I ENST00000397332 NM_001033082.2 125 atG/atC 2/3 SUCCESS | |
| MYCL 4610 GRCh37 1 40366937 40366937 + missense_variant Missense_Mutation SNP C T rs998906291 KMRC1_KIDNEY ENST00000397332.2:c.260G>A p.Gly87Glu p.G87E ENST00000397332 NM_001033082.2 87 gGg/gAg 2/3 SUCCESS | |
| MFSD2A 84879 GRCh37 1 40422828 40422828 + missense_variant Missense_Mutation SNP C T rs181094032 SNU1196_BILIARY_TRACT ENST00000372809.5:c.163C>T p.Pro55Ser p.P55S ENST00000372809 NM_001136493.1 55 Ccc/Tcc 2/14 SUCCESS | |
| MFSD2A 84879 GRCh37 1 40424388 40424388 + missense_variant Missense_Mutation SNP G A MFE319_ENDOMETRIUM ENST00000372809.5:c.283G>A p.Ala95Thr p.A95T ENST00000372809 NM_001136493.1 95 Gcc/Acc 3/14 SUCCESS | |
| MFSD2A 84879 GRCh37 1 40424469 40424469 + missense_variant Missense_Mutation SNP T C HEC59_ENDOMETRIUM ENST00000372809.5:c.364T>C p.Trp122Arg p.W122R ENST00000372809 NM_001136493.1 122 Tgg/Cgg 3/14 SUCCESS | |
| MFSD2A 84879 GRCh37 1 40432807 40432807 + missense_variant Missense_Mutation SNP G A rs776741331 GP2D_LARGE_INTESTINE ENST00000372809.5:c.1016G>A p.Arg339His p.R339H ENST00000372809 NM_001136493.1 339 cGc/cAc 9/14 SUCCESS | |
| MFSD2A 84879 GRCh37 1 40432807 40432807 + missense_variant Missense_Mutation SNP G A rs776741331 SNU1040_LARGE_INTESTINE ENST00000372809.5:c.1016G>A p.Arg339His p.R339H ENST00000372809 NM_001136493.1 339 cGc/cAc 9/14 SUCCESS | |
| MFSD2A 84879 GRCh37 1 40432833 40432833 + missense_variant Missense_Mutation SNP G A HMC18_BREAST ENST00000372809.5:c.1042G>A p.Ala348Thr p.A348T ENST00000372809 NM_001136493.1 348 Gcc/Acc 9/14 SUCCESS | |
| MFSD2A 84879 GRCh37 1 40433536 40433536 + missense_variant Missense_Mutation SNP G A rs777480950 SNU1040_LARGE_INTESTINE ENST00000372809.5:c.1195G>A p.Ala399Thr p.A399T ENST00000372809 NM_001136493.1 399 Gcg/Acg 11/14 SUCCESS | |
| MFSD2A 84879 GRCh37 1 40434035 40434036 + missense_variant Missense_Mutation DNP TC CT EFE184_ENDOMETRIUM ENST00000372809.5:c.1277_1278delinsCT p.Phe426Ser p.F426S ENST00000372809 NM_001136493.1 426 tTC/tCT 12/14 SUCCESS | |
| MFSD2A 84879 GRCh37 1 40434276 40434276 + missense_variant Missense_Mutation SNP C T rs779357389 HEC1A_ENDOMETRIUM ENST00000372809.5:c.1427C>T p.Pro476Leu p.P476L ENST00000372809 NM_001136493.1 476 cCg/cTg 13/14 SUCCESS | |
| MFSD2A 84879 GRCh37 1 40434276 40434276 + missense_variant Missense_Mutation SNP C T rs779357389 HEC1B_ENDOMETRIUM ENST00000372809.5:c.1427C>T p.Pro476Leu p.P476L ENST00000372809 NM_001136493.1 476 cCg/cTg 13/14 SUCCESS | |
| MFSD2A 84879 GRCh37 1 40435222 40435222 + missense_variant Missense_Mutation SNP G C LN229_CENTRAL_NERVOUS_SYSTEM ENST00000372809.5:c.1614G>C p.Glu538Asp p.E538D ENST00000372809 NM_001136493.1 538 gaG/gaC 14/14 SUCCESS | |
| MFSD2A 84879 GRCh37 1 40435258 40435258 + 3_prime_UTR_variant 3'UTR SNP G A rs556597027 SNU81_LARGE_INTESTINE ENST00000372809.5:c.*18G>A ENST00000372809 NM_001136493.1 14/14 SUCCESS | |
| MFSD2A 84879 GRCh37 1 40435304 40435304 + 3_prime_UTR_variant 3'UTR SNP C T rs371014536 NCIH716_LARGE_INTESTINE ENST00000372809.5:c.*64C>T ENST00000372809 NM_001136493.1 14/14 SUCCESS | |
| MFSD2A 84879 GRCh37 1 40435388 40435388 + 3_prime_UTR_variant 3'UTR SNP T C NUGC3_STOMACH ENST00000372809.5:c.*148T>C ENST00000372809 NM_001136493.1 14/14 SUCCESS | |
| 1 40435515 40435515 T T CAL12T_LUNG FAILED | |
| 1 40435515 40435515 T T CCK81_LARGE_INTESTINE FAILED | |
| 1 40435515 40435515 T T CORL47_LUNG FAILED | |
| 1 40435515 40435515 T T CORL88_LUNG FAILED | |
| 1 40435515 40435515 T T DMS273_LUNG FAILED | |
| 1 40435515 40435515 T T GSS_STOMACH FAILED | |
| 1 40435515 40435515 T T HCC33_LUNG FAILED | |
| 1 40435515 40435515 T T IPC298_SKIN FAILED | |
| 1 40435515 40435515 T T NCIH2029_LUNG FAILED | |
| 1 40435515 40435515 T T NCIH510_LUNG FAILED | |
| 1 40435515 40435515 T T VMRCRCZ_KIDNEY FAILED | |
| ZFP69B 65243 GRCh37 1 40922725 40922725 + missense_variant Missense_Mutation SNP G T SKCO1_LARGE_INTESTINE ENST00000361584.3:c.16G>T p.Gly6Trp p.G6W ENST00000361584 6 Ggg/Tgg 3/5 SUCCESS | |
| ZFP69B 65243 GRCh37 1 40928170 40928170 + missense_variant Missense_Mutation SNP A C ONS76_CENTRAL_NERVOUS_SYSTEM ENST00000361584.3:c.208A>C p.Met70Leu p.M70L ENST00000361584 70 Atg/Ctg 5/5 SUCCESS | |
| ZFP69B 65243 GRCh37 1 40928316 40928316 + missense_variant Missense_Mutation SNP G C NCIH1836_LUNG ENST00000361584.3:c.354G>C p.Glu118Asp p.E118D ENST00000361584 118 gaG/gaC 5/5 SUCCESS | |
| ZFP69B 65243 GRCh37 1 40928544 40928544 + missense_variant Missense_Mutation SNP A T HCC1428_BREAST ENST00000361584.3:c.582A>T p.Glu194Asp p.E194D ENST00000361584 194 gaA/gaT 5/5 SUCCESS | |
| ZFP69B 65243 GRCh37 1 40928632 40928632 + missense_variant Missense_Mutation SNP C G LS123_LARGE_INTESTINE ENST00000361584.3:c.670C>G p.Gln224Glu p.Q224E ENST00000361584 224 Cag/Gag 5/5 SUCCESS | |
| ZFP69B 65243 GRCh37 1 40928716 40928716 + missense_variant Missense_Mutation SNP G A RAJI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000361584.3:c.754G>A p.Val252Ile p.V252I ENST00000361584 252 Gtt/Att 5/5 SUCCESS | |
| ZFP69B 65243 GRCh37 1 40928893 40928893 + missense_variant Missense_Mutation SNP C A HEC251_ENDOMETRIUM ENST00000361584.3:c.931C>A p.His311Asn p.H311N ENST00000361584 311 Cat/Aat 5/5 SUCCESS | |
| ZFP69B 65243 GRCh37 1 40928918 40928918 + missense_variant Missense_Mutation SNP G A SNU1040_LARGE_INTESTINE ENST00000361584.3:c.956G>A p.Cys319Tyr p.C319Y ENST00000361584 319 tGt/tAt 5/5 SUCCESS | |
| ZFP69B 65243 GRCh37 1 40928972 40928972 + missense_variant Missense_Mutation SNP G T rs766986080 HT115_LARGE_INTESTINE ENST00000361584.3:c.1010G>T p.Arg337Ile p.R337I ENST00000361584 337 aGa/aTa 5/5 SUCCESS | |
| ZFP69B 65243 GRCh37 1 40929032 40929032 + missense_variant Missense_Mutation SNP G T SNU81_LARGE_INTESTINE ENST00000361584.3:c.1070G>T p.Arg357Ile p.R357I ENST00000361584 357 aGa/aTa 5/5 SUCCESS | |
| ZFP69B 65243 GRCh37 1 40929209 40929209 + missense_variant Missense_Mutation SNP T A JHOM2B_OVARY ENST00000361584.3:c.1247T>A p.Leu416His p.L416H ENST00000361584 416 cTt/cAt 5/5 SUCCESS | |
| ZFP69B 65243 GRCh37 1 40929280 40929280 + 3_prime_UTR_variant 3'UTR SNP G T HEC251_ENDOMETRIUM ENST00000361584.3:c.*19G>T ENST00000361584 5/5 SUCCESS | |
| TIE1 7075 GRCh37 1 43766664 43766665 + 5_prime_UTR_variant 5'UTR INS - A rs374659003 HS934T_SKIN ENST00000372476.3:c.-78dup p.*26* ENST00000372476 NM_005424.4 1/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43766731 43766731 + 5_prime_UTR_variant 5'UTR SNP G A rs745410504 SKUT1_SOFT_TISSUE ENST00000372476.3:c.-12G>A p.*4* ENST00000372476 NM_005424.4 1/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43766760 43766760 + synonymous_variant Silent SNP C T MEWO_SKIN ENST00000372476.3:c.18C>T p.Pro6= p.P6= ENST00000372476 NM_005424.4 6 ccC/ccT 1/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43770711 43770711 + missense_variant Missense_Mutation SNP A T rs1469641942 HEC265_ENDOMETRIUM ENST00000372476.3:c.248A>T p.Asn83Ile p.N83I ENST00000372476 NM_005424.4 83 aAc/aTc 2/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43770762 43770762 + missense_variant Missense_Mutation SNP T C rs769251998 HCT15_LARGE_INTESTINE ENST00000372476.3:c.299T>C p.Val100Ala p.V100A ENST00000372476 NM_005424.4 100 gTg/gCg 2/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43770804 43770804 + missense_variant Missense_Mutation SNP C T rs752564924 CORL279_LUNG ENST00000372476.3:c.341C>T p.Thr114Met p.T114M ENST00000372476 NM_005424.4 114 aCg/aTg 2/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43770805 43770806 + missense_variant Missense_Mutation DNP GC AA RERFLCAD1_LUNG ENST00000372476.3:c.342_343delinsAA p.Arg115Ser p.R115S ENST00000372476 NM_005424.4 114 acGCgc/acAAgc 2/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43770806 43770806 + missense_variant Missense_Mutation SNP C T TGBC11TKB_STOMACH ENST00000372476.3:c.343C>T p.Arg115Cys p.R115C ENST00000372476 NM_005424.4 115 Cgc/Tgc 2/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43770809 43770809 + missense_variant Missense_Mutation SNP G A rs763598937 SW1783_CENTRAL_NERVOUS_SYSTEM ENST00000372476.3:c.346G>A p.Val116Ile p.V116I ENST00000372476 NM_005424.4 116 Gtc/Atc 2/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43770851 43770852 + intron_variant Intron INS - G rs751929994 KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000372476.3:c.373+21dup p.*125* ENST00000372476 NM_005424.4 SUCCESS | |
| TIE1 7075 GRCh37 1 43770855 43770855 + intron_variant Intron SNP G A SNUC4_LARGE_INTESTINE ENST00000372476.3:c.373+19G>A p.*125* ENST00000372476 NM_005424.4 SUCCESS | |
| TIE1 7075 GRCh37 1 43770864 43770864 + intron_variant Intron SNP C T rs775290031 JHUEM1_ENDOMETRIUM ENST00000372476.3:c.373+28C>T p.*125* ENST00000372476 NM_005424.4 SUCCESS | |
| TIE1 7075 GRCh37 1 43770936 43770936 + missense_variant Missense_Mutation SNP G A rs144275350 GOS3_CENTRAL_NERVOUS_SYSTEM ENST00000372476.3:c.406G>A p.Val136Met p.V136M ENST00000372476 NM_005424.4 136 Gtg/Atg 3/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43770949 43770949 + missense_variant Missense_Mutation SNP A T rs756736943 KP4_PANCREAS ENST00000372476.3:c.419A>T p.Asp140Val p.D140V ENST00000372476 NM_005424.4 140 gAc/gTc 3/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43770949 43770949 + missense_variant Missense_Mutation SNP A T rs756736943 SNU620_STOMACH ENST00000372476.3:c.419A>T p.Asp140Val p.D140V ENST00000372476 NM_005424.4 140 gAc/gTc 3/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43770971 43770971 + synonymous_variant Silent SNP T C SNU175_LARGE_INTESTINE ENST00000372476.3:c.441T>C p.Arg147= p.R147= ENST00000372476 NM_005424.4 147 cgT/cgC 3/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43770983 43770983 + synonymous_variant Silent SNP G A rs746083875 LOUCY_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000372476.3:c.453G>A p.Glu151= p.E151= ENST00000372476 NM_005424.4 151 gaG/gaA 3/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43770995 43770995 + synonymous_variant Silent SNP C T rs768619519 HS852T_SKIN ENST00000372476.3:c.465C>T p.Asp155= p.D155= ENST00000372476 NM_005424.4 155 gaC/gaT 3/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43772540 43772540 + missense_variant Missense_Mutation SNP G A rs758499730 CORL279_LUNG ENST00000372476.3:c.514G>A p.Glu172Lys p.E172K ENST00000372476 NM_005424.4 172 Gaa/Aaa 4/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43772564 43772564 + synonymous_variant Silent SNP C T NCIH650_LUNG ENST00000372476.3:c.538C>T p.Leu180= p.L180= ENST00000372476 NM_005424.4 180 Ctg/Ttg 4/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43772656 43772656 + synonymous_variant Silent SNP C T rs1412456549 CL11_LARGE_INTESTINE ENST00000372476.3:c.630C>T p.Leu210= p.L210= ENST00000372476 NM_005424.4 210 ctC/ctT 4/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43772659 43772659 + synonymous_variant Silent SNP C T rs757103161 RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000372476.3:c.633C>T p.Ile211= p.I211= ENST00000372476 NM_005424.4 211 atC/atT 4/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43772663 43772663 + missense_variant Missense_Mutation SNP C T rs573341875 OVK18_OVARY ENST00000372476.3:c.637C>T p.Arg213Trp p.R213W ENST00000372476 NM_005424.4 213 Cgg/Tgg 4/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43772678 43772678 + intron_variant Intron SNP A T SNU1040_LARGE_INTESTINE ENST00000372476.3:c.640+12A>T p.*214* ENST00000372476 NM_005424.4 SUCCESS | |
| TIE1 7075 GRCh37 1 43772711 43772711 + intron_variant Intron SNP G C rs192263041 MKN1_STOMACH ENST00000372476.3:c.640+45G>C p.*214* ENST00000372476 NM_005424.4 SUCCESS | |
| TIE1 7075 GRCh37 1 43772822 43772822 + missense_variant Missense_Mutation SNP C T LNCAPCLONEFGC_PROSTATE ENST00000372476.3:c.650C>T p.Ala217Val p.A217V ENST00000372476 NM_005424.4 217 gCt/gTt 5/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43773539 43773539 + missense_variant Missense_Mutation SNP G A rs371384624 HCC1359_LUNG ENST00000372476.3:c.986G>A p.Arg329Gln p.R329Q ENST00000372476 NM_005424.4 329 cGg/cAg 7/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43773539 43773539 + missense_variant Missense_Mutation SNP G A rs371384624 SNU175_LARGE_INTESTINE ENST00000372476.3:c.986G>A p.Arg329Gln p.R329Q ENST00000372476 NM_005424.4 329 cGg/cAg 7/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43774777 43774777 + missense_variant Missense_Mutation SNP G A rs948966306 HCT15_LARGE_INTESTINE ENST00000372476.3:c.1163G>A p.Arg388His p.R388H ENST00000372476 NM_005424.4 388 cGc/cAc 8/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43774785 43774785 + missense_variant Missense_Mutation SNP G C LC1F_LUNG ENST00000372476.3:c.1171G>C p.Asp391His p.D391H ENST00000372476 NM_005424.4 391 Gac/Cac 8/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43774789 43774789 + missense_variant Missense_Mutation SNP G A CORL88_LUNG ENST00000372476.3:c.1175G>A p.Gly392Asp p.G392D ENST00000372476 NM_005424.4 392 gGc/gAc 8/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43775071 43775071 + missense_variant Missense_Mutation SNP A G TE10_OESOPHAGUS ENST00000372476.3:c.1201A>G p.Ile401Val p.I401V ENST00000372476 NM_005424.4 401 Att/Gtt 9/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43775103 43775103 + missense_variant Missense_Mutation SNP C G VMCUB1_URINARY_TRACT ENST00000372476.3:c.1233C>G p.Phe411Leu p.F411L ENST00000372476 NM_005424.4 411 ttC/ttG 9/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43775107 43775107 + missense_variant Missense_Mutation SNP G A rs202130715 OSRC2_KIDNEY ENST00000372476.3:c.1237G>A p.Val413Met p.V413M ENST00000372476 NM_005424.4 413 Gtg/Atg 9/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43775107 43775107 + missense_variant Missense_Mutation SNP G A rs202130715 RERFLCSQ1_LUNG ENST00000372476.3:c.1237G>A p.Val413Met p.V413M ENST00000372476 NM_005424.4 413 Gtg/Atg 9/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43775112 43775112 + synonymous_variant Silent SNP C T rs1406032935 TEN_ENDOMETRIUM ENST00000372476.3:c.1242C>T p.Pro414= p.P414= ENST00000372476 NM_005424.4 414 ccC/ccT 9/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43775182 43775182 + missense_variant Missense_Mutation SNP C T rs1370034785 HEC59_ENDOMETRIUM ENST00000372476.3:c.1312C>T p.Arg438Cys p.R438C ENST00000372476 NM_005424.4 438 Cgc/Tgc 9/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43775182 43775182 + missense_variant Missense_Mutation SNP C T rs1370034785 MFE319_ENDOMETRIUM ENST00000372476.3:c.1312C>T p.Arg438Cys p.R438C ENST00000372476 NM_005424.4 438 Cgc/Tgc 9/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43777782 43777782 + missense_variant Missense_Mutation SNP T C EN_ENDOMETRIUM ENST00000372476.3:c.1610T>C p.Leu537Pro p.L537P ENST00000372476 NM_005424.4 537 cTc/cCc 11/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43778053 43778053 + missense_variant Missense_Mutation SNP T A rs767238455 SW837_LARGE_INTESTINE ENST00000372476.3:c.1708T>A p.Leu570Met p.L570M ENST00000372476 NM_005424.4 570 Ttg/Atg 12/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43778060 43778060 + missense_variant Missense_Mutation SNP C T rs560023514 5637_URINARY_TRACT ENST00000372476.3:c.1715C>T p.Pro572Leu p.P572L ENST00000372476 NM_005424.4 572 cCc/cTc 12/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43778078 43778078 + missense_variant Missense_Mutation SNP A G HCC1569_BREAST ENST00000372476.3:c.1733A>G p.Asp578Gly p.D578G ENST00000372476 NM_005424.4 578 gAc/gGc 12/23 SUCCESS | |
| 1 43778141 43778141 C C LS180_LARGE_INTESTINE FAILED | |
| 1 43778141 43778141 C C SKUT1_SOFT_TISSUE FAILED | |
| TIE1 7075 GRCh37 1 43778152 43778152 + missense_variant Missense_Mutation SNP C T rs1245106473 SNU407_LARGE_INTESTINE ENST00000372476.3:c.1807C>T p.Arg603Cys p.R603C ENST00000372476 NM_005424.4 603 Cgc/Tgc 12/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43778254 43778254 + missense_variant Missense_Mutation SNP G A rs367890141 NCIH1618_LUNG ENST00000372476.3:c.1909G>A p.Val637Met p.V637M ENST00000372476 NM_005424.4 637 Gtg/Atg 12/23 SUCCESS | |
| 1 43778263 43778263 C C SKUT1_SOFT_TISSUE FAILED | |
| TIE1 7075 GRCh37 1 43778880 43778880 + missense_variant Missense_Mutation SNP G A COLO792_SKIN ENST00000372476.3:c.2002G>A p.Glu668Lys p.E668K ENST00000372476 NM_005424.4 668 Gag/Aag 13/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43779016 43779016 + missense_variant Missense_Mutation SNP G A rs918280682 SNU175_LARGE_INTESTINE ENST00000372476.3:c.2138G>A p.Arg713His p.R713H ENST00000372476 NM_005424.4 713 cGc/cAc 13/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43779027 43779027 + missense_variant Missense_Mutation SNP C T rs372719142 SUDHL8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000372476.3:c.2149C>T p.Arg717Cys p.R717C ENST00000372476 NM_005424.4 717 Cgc/Tgc 13/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43779118 43779118 + intron_variant Intron SNP G C CORL88_LUNG ENST00000372476.3:c.2218+22G>C p.*740* ENST00000372476 NM_005424.4 SUCCESS | |
| TIE1 7075 GRCh37 1 43779607 43779607 + missense_variant Missense_Mutation SNP C T rs761404235 HS936T_SKIN ENST00000372476.3:c.2377C>T p.Arg793Trp p.R793W ENST00000372476 NM_005424.4 793 Cgg/Tgg 14/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43779652 43779652 + intron_variant Intron SNP C T rs375129115 P3HR1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000372476.3:c.2409+13C>T p.*803* ENST00000372476 NM_005424.4 SUCCESS | |
| TIE1 7075 GRCh37 1 43779659 43779659 + intron_variant Intron SNP C T AGS_STOMACH ENST00000372476.3:c.2409+20C>T p.*803* ENST00000372476 NM_005424.4 SUCCESS | |
| TIE1 7075 GRCh37 1 43779662 43779662 + intron_variant Intron SNP G A NCIH1573_LUNG ENST00000372476.3:c.2409+23G>A p.*803* ENST00000372476 NM_005424.4 SUCCESS | |
| TIE1 7075 GRCh37 1 43779724 43779725 + intron_variant Intron INS - TG rs138876276 JJN3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000372476.3:c.2409+107_2409+108dup p.*803* ENST00000372476 NM_005424.4 SUCCESS | |
| TIE1 7075 GRCh37 1 43779724 43779725 + intron_variant Intron INS - TG rs138876276 MDAPCA2B_PROSTATE ENST00000372476.3:c.2409+107_2409+108dup p.*803* ENST00000372476 NM_005424.4 SUCCESS | |
| TIE1 7075 GRCh37 1 43779724 43779725 + intron_variant Intron INS - TG rs138876276 NB1_AUTONOMIC_GANGLIA ENST00000372476.3:c.2409+107_2409+108dup p.*803* ENST00000372476 NM_005424.4 SUCCESS | |
| TIE1 7075 GRCh37 1 43779724 43779725 + intron_variant Intron INS - TG rs138876276 NCIH2030_LUNG ENST00000372476.3:c.2409+107_2409+108dup p.*803* ENST00000372476 NM_005424.4 SUCCESS | |
| TIE1 7075 GRCh37 1 43779724 43779725 + intron_variant Intron INS - TG rs138876276 NCIH2347_LUNG ENST00000372476.3:c.2409+107_2409+108dup p.*803* ENST00000372476 NM_005424.4 SUCCESS | |
| 1 43779725 43779726 TG TG AN3CA_ENDOMETRIUM FAILED | |
| 1 43779725 43779726 TG TG ESS1_ENDOMETRIUM FAILED | |
| 1 43779725 43779726 TG TG GP2D_LARGE_INTESTINE FAILED | |
| 1 43779725 43779726 TG TG KASUMI6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 43779725 43779726 TG TG LXF289_LUNG FAILED | |
| 1 43779725 43779726 TG TG NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 43779725 43779726 TG TG U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| TIE1 7075 GRCh37 1 43783021 43783021 + missense_variant Missense_Mutation SNP T G rs143318072 CAOV4_OVARY ENST00000372476.3:c.2561T>G p.Ile854Ser p.I854S ENST00000372476 NM_005424.4 854 aTc/aGc 15/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43783021 43783021 + missense_variant Missense_Mutation SNP T G rs143318072 NCIH727_LUNG ENST00000372476.3:c.2561T>G p.Ile854Ser p.I854S ENST00000372476 NM_005424.4 854 aTc/aGc 15/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43783573 43783573 + stop_gained Nonsense_Mutation SNP G T SNU81_LARGE_INTESTINE ENST00000372476.3:c.2752G>T p.Glu918Ter p.E918* ENST00000372476 NM_005424.4 918 Gaa/Taa 17/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43783648 43783648 + stop_gained Nonsense_Mutation SNP C T SNU1196_BILIARY_TRACT ENST00000372476.3:c.2827C>T p.Arg943Ter p.R943* ENST00000372476 NM_005424.4 943 Cga/Tga 17/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43783658 43783658 + missense_variant Missense_Mutation SNP G A KYSE140_OESOPHAGUS ENST00000372476.3:c.2837G>A p.Gly946Glu p.G946E ENST00000372476 NM_005424.4 946 gGg/gAg 17/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43783694 43783694 + missense_variant Missense_Mutation SNP G A rs751919729 SNU899_UPPER_AERODIGESTIVE_TRACT ENST00000372476.3:c.2873G>A p.Arg958His p.R958H ENST00000372476 NM_005424.4 958 cGt/cAt 17/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43783699 43783699 + missense_variant Missense_Mutation SNP G A rs755542003 RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000372476.3:c.2878G>A p.Ala960Thr p.A960T ENST00000372476 NM_005424.4 960 Gcc/Acc 17/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43784905 43784905 + splice_acceptor_variant Splice_Site SNP G A rs1570452093 IGR37_SKIN ENST00000372476.3:c.2923-1G>A p.X975_splice ENST00000372476 NM_005424.4 975 SUCCESS | |
| TIE1 7075 GRCh37 1 43784945 43784945 + missense_variant Missense_Mutation SNP G A rs1459586373 SNUC5_LARGE_INTESTINE ENST00000372476.3:c.2962G>A p.Gly988Arg p.G988R ENST00000372476 NM_005424.4 988 Gga/Aga 18/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43785134 43785134 + missense_variant Missense_Mutation SNP G A rs146431314 CW2_LARGE_INTESTINE ENST00000372476.3:c.3041G>A p.Arg1014His p.R1014H ENST00000372476 NM_005424.4 1014 cGt/cAt 19/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43786964 43786964 + stop_gained Nonsense_Mutation SNP G A HCC1171_LUNG ENST00000372476.3:c.3132G>A p.Trp1044Ter p.W1044* ENST00000372476 NM_005424.4 1044 tgG/tgA 20/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43786969 43786969 + missense_variant Missense_Mutation SNP T A GP2D_LARGE_INTESTINE ENST00000372476.3:c.3137T>A p.Ile1046Lys p.I1046K ENST00000372476 NM_005424.4 1046 aTa/aAa 20/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43787121 43787121 + missense_variant Missense_Mutation SNP A G rs1570455635 2313287_STOMACH ENST00000372476.3:c.3203A>G p.Gln1068Arg p.Q1068R ENST00000372476 NM_005424.4 1068 cAg/cGg 21/23 SUCCESS | |
| 1 43787333 43787333 C C LOVO_LARGE_INTESTINE FAILED | |
| TIE1 7075 GRCh37 1 43788335 43788335 + missense_variant Missense_Mutation SNP T G rs748271354 ABC1_LUNG ENST00000372476.3:c.3359T>G p.Met1120Arg p.M1120R ENST00000372476 NM_005424.4 1120 aTg/aGg 23/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43788341 43788341 + missense_variant Missense_Mutation SNP T A ABC1_LUNG ENST00000372476.3:c.3365T>A p.Leu1122Gln p.L1122Q ENST00000372476 NM_005424.4 1122 cTg/cAg 23/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43788361 43788361 + missense_variant Missense_Mutation SNP G A SNU175_LARGE_INTESTINE ENST00000372476.3:c.3385G>A p.Ala1129Thr p.A1129T ENST00000372476 NM_005424.4 1129 Gcg/Acg 23/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43788402 43788402 + 3_prime_UTR_variant 3'UTR SNP C A NCIH810_LUNG ENST00000372476.3:c.*9C>A ENST00000372476 NM_005424.4 23/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43788456 43788456 + 3_prime_UTR_variant 3'UTR SNP C T HEC108_ENDOMETRIUM ENST00000372476.3:c.*63C>T ENST00000372476 NM_005424.4 23/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43788483 43788483 + 3_prime_UTR_variant 3'UTR SNP T C CAL120_BREAST ENST00000372476.3:c.*90T>C ENST00000372476 NM_005424.4 23/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43788491 43788491 + 3_prime_UTR_variant 3'UTR SNP C T rs767249698 BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000372476.3:c.*98C>T ENST00000372476 NM_005424.4 23/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43788493 43788493 + 3_prime_UTR_variant 3'UTR SNP C G BT474_BREAST ENST00000372476.3:c.*100C>G ENST00000372476 NM_005424.4 23/23 SUCCESS | |
| TIE1 7075 GRCh37 1 43788562 43788562 + 3_prime_UTR_variant 3'UTR SNP T A rs141458855 KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000372476.3:c.*169T>A ENST00000372476 NM_005424.4 23/23 SUCCESS | |
| MPL 4352 GRCh37 1 43803817 43803817 + stop_gained Nonsense_Mutation SNP C T rs148434485 COLO792_SKIN ENST00000372470.3:c.127C>T p.Arg43Ter p.R43* ENST00000372470 NM_005373.2 43 Cga/Tga 2/12 SUCCESS | |
| MPL 4352 GRCh37 1 43804313 43804313 + missense_variant Missense_Mutation SNP T C rs145313814 BICR56_UPPER_AERODIGESTIVE_TRACT ENST00000372470.3:c.313T>C p.Phe105Leu p.F105L ENST00000372470 NM_005373.2 105 Ttt/Ctt 3/12 SUCCESS | |
| 1 43804365 43804378 AGCGAGTCCTCTTT AGCGAGTCCTCTTT WM88_SKIN FAILED | |
| MPL 4352 GRCh37 1 43805191 43805191 + missense_variant Missense_Mutation SNP C T rs775165199 COLO792_SKIN ENST00000372470.3:c.641C>T p.Pro214Leu p.P214L ENST00000372470 NM_005373.2 214 cCc/cTc 4/12 SUCCESS | |
| MPL 4352 GRCh37 1 43805714 43805714 + missense_variant Missense_Mutation SNP G A rs993195285 LNCAPCLONEFGC_PROSTATE ENST00000372470.3:c.770G>A p.Arg257His p.R257H ENST00000372470 NM_005373.2 257 cGc/cAc 5/12 SUCCESS | |
| MPL 4352 GRCh37 1 43812237 43812237 + missense_variant Missense_Mutation SNP G T rs149810307 NCIH441_LUNG ENST00000372470.3:c.1102G>T p.Val368Leu p.V368L ENST00000372470 NM_005373.2 368 Gtg/Ttg 7/12 SUCCESS | |
| MPL 4352 GRCh37 1 43812246 43812246 + missense_variant Missense_Mutation SNP G A SNU175_LARGE_INTESTINE ENST00000372470.3:c.1111G>A p.Ala371Thr p.A371T ENST00000372470 NM_005373.2 371 Gcc/Acc 7/12 SUCCESS | |
| MPL 4352 GRCh37 1 43812465 43812465 + missense_variant,splice_region_variant Missense_Mutation SNP C T rs373621350 HT115_LARGE_INTESTINE ENST00000372470.3:c.1168C>T p.Arg390Cys p.R390C ENST00000372470 NM_005373.2 390 Cgc/Tgc 8/12 SUCCESS | |
| MPL 4352 GRCh37 1 43812580 43812580 + missense_variant Missense_Mutation SNP C T rs563996763 253JBV_URINARY_TRACT ENST00000372470.3:c.1283C>T p.Thr428Ile p.T428I ENST00000372470 NM_005373.2 428 aCa/aTa 8/12 SUCCESS | |
| MPL 4352 GRCh37 1 43812580 43812580 + missense_variant Missense_Mutation SNP C T rs563996763 253J_URINARY_TRACT ENST00000372470.3:c.1283C>T p.Thr428Ile p.T428I ENST00000372470 NM_005373.2 428 aCa/aTa 8/12 SUCCESS | |
| MPL 4352 GRCh37 1 43815045 43815045 + intron_variant Intron SNP A G ES2_OVARY ENST00000372470.3:c.1565+15A>G p.*522* ENST00000372470 NM_005373.2 SUCCESS | |
| MPL 4352 GRCh37 1 43815078 43815078 + intron_variant Intron SNP G A rs1462964383 AN3CA_ENDOMETRIUM ENST00000372470.3:c.1565+48G>A p.*522* ENST00000372470 NM_005373.2 SUCCESS | |
| MPL 4352 GRCh37 1 43815078 43815078 + intron_variant Intron SNP G A rs1462964383 NCIH2087_LUNG ENST00000372470.3:c.1565+48G>A p.*522* ENST00000372470 NM_005373.2 SUCCESS | |
| MPL 4352 GRCh37 1 43817930 43817930 + missense_variant Missense_Mutation SNP C T rs148784027 NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000372470.3:c.1609C>T p.Arg537Trp p.R537W ENST00000372470 NM_005373.2 537 Cgg/Tgg 11/12 SUCCESS | |
| MPL 4352 GRCh37 1 43817931 43817931 + missense_variant Missense_Mutation SNP G A rs3820551 RL952_ENDOMETRIUM ENST00000372470.3:c.1610G>A p.Arg537Gln p.R537Q ENST00000372470 NM_005373.2 537 cGg/cAg 11/12 SUCCESS | |
| 1 43818248 43818248 C C NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| MPL 4352 GRCh37 1 43818443 43818443 + stop_lost Nonstop_Mutation SNP A G rs756235478 KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000372470.3:c.1908A>G p.Ter636TrpextTer? p.*636Wext*? ENST00000372470 NM_005373.2 636 tgA/tgG 12/12 SUCCESS | |
| MPL 4352 GRCh37 1 43818443 43818443 + stop_lost Nonstop_Mutation SNP A G rs756235478 RERFLCSQ1_LUNG ENST00000372470.3:c.1908A>G p.Ter636TrpextTer? p.*636Wext*? ENST00000372470 NM_005373.2 636 tgA/tgG 12/12 SUCCESS | |
| MPL 4352 GRCh37 1 43818443 43818443 + stop_lost Nonstop_Mutation SNP A G rs756235478 T3M4_PANCREAS ENST00000372470.3:c.1908A>G p.Ter636TrpextTer? p.*636Wext*? ENST00000372470 NM_005373.2 636 tgA/tgG 12/12 SUCCESS | |
| MPL 4352 GRCh37 1 43818522 43818522 + downstream_gene_variant 3'Flank SNP C T rs1647103017 DANG_PANCREAS ENST00000372470 NM_005373.2 SUCCESS | |
| MPL 4352 GRCh37 1 43818522 43818522 + downstream_gene_variant 3'Flank SNP C A JHH7_LIVER ENST00000372470 NM_005373.2 SUCCESS | |
| MPL 4352 GRCh37 1 43818554 43818554 + downstream_gene_variant 3'Flank SNP C G rs186807040 DMS79_LUNG ENST00000372470 NM_005373.2 SUCCESS | |
| MPL 4352 GRCh37 1 43818578 43818578 + downstream_gene_variant 3'Flank SNP A G HEC108_ENDOMETRIUM ENST00000372470 NM_005373.2 SUCCESS | |
| MPL 4352 GRCh37 1 43818667 43818667 + downstream_gene_variant 3'Flank SNP C A CW2_LARGE_INTESTINE ENST00000372470 NM_005373.2 SUCCESS | |
| PLK3 1263 GRCh37 1 45266602 45266602 + missense_variant Missense_Mutation SNP C T KM12_LARGE_INTESTINE ENST00000372201.4:c.301C>T p.Pro101Ser p.P101S ENST00000372201 NM_004073.2 101 Ccg/Tcg 2/15 SUCCESS | |
| PLK3 1263 GRCh37 1 45266608 45266608 + missense_variant Missense_Mutation SNP C G BT483_BREAST ENST00000372201.4:c.307C>G p.Gln103Glu p.Q103E ENST00000372201 NM_004073.2 103 Cag/Gag 2/15 SUCCESS | |
| PLK3 1263 GRCh37 1 45266759 45266759 + missense_variant Missense_Mutation SNP C T rs758824217 HEC108_ENDOMETRIUM ENST00000372201.4:c.370C>T p.Arg124Cys p.R124C ENST00000372201 NM_004073.2 124 Cgt/Tgt 3/15 SUCCESS | |
| 1 45266761 45266761 T T IM95_STOMACH FAILED | |
| PLK3 1263 GRCh37 1 45266826 45266826 + splice_donor_variant Splice_Site SNP T G SNUC5_LARGE_INTESTINE ENST00000372201.4:c.435+2T>G p.X145_splice ENST00000372201 NM_004073.2 145 SUCCESS | |
| PLK3 1263 GRCh37 1 45266826 45266827 + splice_region_variant,intron_variant Splice_Region INS - A rs1280470409 SNU685_ENDOMETRIUM ENST00000372201.4:c.435+2_435+3insA p.X145_splice ENST00000372201 NM_004073.2 145 SUCCESS | |
| PLK3 1263 GRCh37 1 45267345 45267345 + missense_variant Missense_Mutation SNP C T rs373341543 MDAPCA2B_PROSTATE ENST00000372201.4:c.487C>T p.Arg163Cys p.R163C ENST00000372201 NM_004073.2 163 Cgc/Tgc 4/15 SUCCESS | |
| PLK3 1263 GRCh37 1 45267394 45267394 + missense_variant Missense_Mutation SNP G T rs544406648 SNU1033_LARGE_INTESTINE ENST00000372201.4:c.536G>T p.Arg179Leu p.R179L ENST00000372201 NM_004073.2 179 cGc/cTc 4/15 SUCCESS | |
| PLK3 1263 GRCh37 1 45267424 45267424 + splice_donor_variant Splice_Site SNP G T ECC10_STOMACH ENST00000372201.4:c.565+1G>T p.X189_splice ENST00000372201 NM_004073.2 189 SUCCESS | |
| PLK3 1263 GRCh37 1 45267585 45267585 + missense_variant Missense_Mutation SNP C A MORCPR_LUNG ENST00000372201.4:c.634C>A p.Pro212Thr p.P212T ENST00000372201 NM_004073.2 212 Cct/Act 5/15 SUCCESS | |
| 1 45267606 45267612 TGAGTTT TGAGTTT UACC812_BREAST FAILED | |
| PLK3 1263 GRCh37 1 45268644 45268644 + missense_variant Missense_Mutation SNP G A HDMYZ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000372201.4:c.767G>A p.Gly256Glu p.G256E ENST00000372201 NM_004073.2 256 gGg/gAg 7/15 SUCCESS | |
| PLK3 1263 GRCh37 1 45268667 45268667 + missense_variant Missense_Mutation SNP G A rs778121410 CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000372201.4:c.790G>A p.Asp264Asn p.D264N ENST00000372201 NM_004073.2 264 Gac/Aac 7/15 SUCCESS | |
| PLK3 1263 GRCh37 1 45268667 45268667 + missense_variant Missense_Mutation SNP G A rs778121410 SNU626_CENTRAL_NERVOUS_SYSTEM ENST00000372201.4:c.790G>A p.Asp264Asn p.D264N ENST00000372201 NM_004073.2 264 Gac/Aac 7/15 SUCCESS | |
| PLK3 1263 GRCh37 1 45268680 45268680 + missense_variant Missense_Mutation SNP C T rs372956892 PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000372201.4:c.803C>T p.Thr268Met p.T268M ENST00000372201 NM_004073.2 268 aCg/aTg 7/15 SUCCESS | |
| PLK3 1263 GRCh37 1 45268724 45268724 + missense_variant Missense_Mutation SNP C T rs17880471 SNU520_STOMACH ENST00000372201.4:c.847C>T p.Leu283Phe p.L283F ENST00000372201 NM_004073.2 283 Ctc/Ttc 7/15 SUCCESS | |
| 1 45268997 45268997 C C EFO27_OVARY FAILED | |
| 1 45268997 45268997 C C HEC151_ENDOMETRIUM FAILED | |
| 1 45268997 45268997 C C SNU1_STOMACH FAILED | |
| PLK3 1263 GRCh37 1 45269855 45269855 + missense_variant Missense_Mutation SNP G C DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000372201.4:c.1279G>C p.Val427Leu p.V427L ENST00000372201 NM_004073.2 427 Gtg/Ctg 11/15 SUCCESS | |
| PLK3 1263 GRCh37 1 45270010 45270010 + splice_acceptor_variant Splice_Site SNP G A KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000372201.4:c.1343-1G>A p.X448_splice ENST00000372201 NM_004073.2 448 SUCCESS | |
| 1 45270026 45270026 C C HEC6_ENDOMETRIUM FAILED | |
| 1 45270026 45270026 C C SNUC4_LARGE_INTESTINE FAILED | |
| PLK3 1263 GRCh37 1 45270057 45270057 + stop_gained Nonsense_Mutation SNP G A AN3CA_ENDOMETRIUM ENST00000372201.4:c.1389G>A p.Trp463Ter p.W463* ENST00000372201 NM_004073.2 463 tgG/tgA 12/15 SUCCESS | |
| PLK3 1263 GRCh37 1 45270069 45270069 + missense_variant Missense_Mutation SNP G T 639V_URINARY_TRACT ENST00000372201.4:c.1401G>T p.Trp467Cys p.W467C ENST00000372201 NM_004073.2 467 tgG/tgT 12/15 SUCCESS | |
| PLK3 1263 GRCh37 1 45270104 45270104 + missense_variant Missense_Mutation SNP A G A2780_OVARY ENST00000372201.4:c.1436A>G p.Gln479Arg p.Q479R ENST00000372201 NM_004073.2 479 cAa/cGa 12/15 SUCCESS | |
| PLK3 1263 GRCh37 1 45270125 45270125 + missense_variant Missense_Mutation SNP C A EN_ENDOMETRIUM ENST00000372201.4:c.1457C>A p.Ala486Asp p.A486D ENST00000372201 NM_004073.2 486 gCt/gAt 12/15 SUCCESS | |
| PLK3 1263 GRCh37 1 45270336 45270336 + missense_variant Missense_Mutation SNP A G rs1468979391 BDCM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000372201.4:c.1520A>G p.Asn507Ser p.N507S ENST00000372201 NM_004073.2 507 aAt/aGt 13/15 SUCCESS | |
| PLK3 1263 GRCh37 1 45271238 45271238 + missense_variant Missense_Mutation SNP G A rs55654497 SNU5_STOMACH ENST00000372201.4:c.1829G>A p.Arg610His p.R610H ENST00000372201 NM_004073.2 610 cGt/cAt 15/15 SUCCESS | |
| PLK3 1263 GRCh37 1 45271240 45271240 + missense_variant Missense_Mutation SNP A G HEC108_ENDOMETRIUM ENST00000372201.4:c.1831A>G p.Ser611Gly p.S611G ENST00000372201 NM_004073.2 611 Agt/Ggt 15/15 SUCCESS | |
| PLK3 1263 GRCh37 1 45271421 45271421 + 3_prime_UTR_variant 3'UTR SNP C T KYSE270_OESOPHAGUS ENST00000372201.4:c.*71C>T ENST00000372201 NM_004073.2 15/15 SUCCESS | |
| PLK3 1263 GRCh37 1 45271449 45271449 + 3_prime_UTR_variant 3'UTR SNP C A HDMYZ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000372201.4:c.*99C>A ENST00000372201 NM_004073.2 15/15 SUCCESS | |
| PLK3 1263 GRCh37 1 45271466 45271466 + 3_prime_UTR_variant 3'UTR SNP T G SNGM_ENDOMETRIUM ENST00000372201.4:c.*116T>G ENST00000372201 NM_004073.2 15/15 SUCCESS | |
| PLK3 1263 GRCh37 1 45271473 45271473 + 3_prime_UTR_variant 3'UTR SNP C T rs185367591 HUH6_LIVER ENST00000372201.4:c.*123C>T ENST00000372201 NM_004073.2 15/15 SUCCESS | |
| PLK3 1263 GRCh37 1 45271483 45271483 + 3_prime_UTR_variant 3'UTR SNP T C rs2148857460 KM12_LARGE_INTESTINE ENST00000372201.4:c.*133T>C ENST00000372201 NM_004073.2 15/15 SUCCESS | |
| PLK3 1263 GRCh37 1 45271509 45271509 + 3_prime_UTR_variant 3'UTR SNP T C rs563454044 DBTRG05MG_CENTRAL_NERVOUS_SYSTEM ENST00000372201.4:c.*159T>C ENST00000372201 NM_004073.2 15/15 SUCCESS | |
| PLK3 1263 GRCh37 1 45271509 45271509 + 3_prime_UTR_variant 3'UTR SNP T C rs563454044 LOUNH91_LUNG ENST00000372201.4:c.*159T>C ENST00000372201 NM_004073.2 15/15 SUCCESS | |
| PTCH2 8643 GRCh37 1 45288325 45288325 + missense_variant Missense_Mutation SNP T C HEC265_ENDOMETRIUM ENST00000372192.3:c.3374A>G p.Lys1125Arg p.K1125R ENST00000372192 NM_003738.4 1125 aAg/aGg 22/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45288748 45288748 + missense_variant Missense_Mutation SNP G A rs751731603 UACC893_BREAST ENST00000372192.3:c.3350C>T p.Pro1117Leu p.P1117L ENST00000372192 NM_003738.4 1117 cCg/cTg 21/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45288949 45288949 + missense_variant Missense_Mutation SNP T C TO175T_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000372192.3:c.3223A>G p.Met1075Val p.M1075V ENST00000372192 NM_003738.4 1075 Atg/Gtg 20/22 SUCCESS | |
| 1 45288989 45288989 G G HEC59_ENDOMETRIUM FAILED | |
| PTCH2 8643 GRCh37 1 45289032 45289032 + missense_variant Missense_Mutation SNP C T rs750281691 RKO_LARGE_INTESTINE ENST00000372192.3:c.3140G>A p.Arg1047Gln p.R1047Q ENST00000372192 NM_003738.4 1047 cGg/cAg 20/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45291981 45291981 + missense_variant Missense_Mutation SNP C T rs11573591 HS600T_SKIN ENST00000372192.3:c.3055G>A p.Val1019Met p.V1019M ENST00000372192 NM_003738.4 1019 Gtg/Atg 19/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45291981 45291981 + missense_variant Missense_Mutation SNP C T rs11573591 NCIH69_LUNG ENST00000372192.3:c.3055G>A p.Val1019Met p.V1019M ENST00000372192 NM_003738.4 1019 Gtg/Atg 19/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45292018 45292018 + missense_variant Missense_Mutation SNP G C rs767257214 SNUC2A_LARGE_INTESTINE ENST00000372192.3:c.3018C>G p.Ile1006Met p.I1006M ENST00000372192 NM_003738.4 1006 atC/atG 19/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45292326 45292326 + missense_variant Missense_Mutation SNP G A rs776549275 SNUC4_LARGE_INTESTINE ENST00000372192.3:c.2810C>T p.Ala937Val p.A937V ENST00000372192 NM_003738.4 937 gCc/gTc 18/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45292344 45292344 + missense_variant Missense_Mutation SNP C A rs369993325 NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000372192.3:c.2792G>T p.Arg931Leu p.R931L ENST00000372192 NM_003738.4 931 cGg/cTg 18/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45292344 45292344 + missense_variant Missense_Mutation SNP C T rs369993325 SW48_LARGE_INTESTINE ENST00000372192.3:c.2792G>A p.Arg931Gln p.R931Q ENST00000372192 NM_003738.4 931 cGg/cAg 18/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45292393 45292393 + missense_variant Missense_Mutation SNP G A rs758477982 HEC265_ENDOMETRIUM ENST00000372192.3:c.2743C>T p.Arg915Cys p.R915C ENST00000372192 NM_003738.4 915 Cgt/Tgt 18/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45292393 45292393 + missense_variant Missense_Mutation SNP G A rs758477982 SNU1040_LARGE_INTESTINE ENST00000372192.3:c.2743C>T p.Arg915Cys p.R915C ENST00000372192 NM_003738.4 915 Cgt/Tgt 18/22 SUCCESS | |
| 1 45292627 45292627 G G KM12_LARGE_INTESTINE FAILED | |
| 1 45292627 45292627 G G SNUC2A_LARGE_INTESTINE FAILED | |
| PTCH2 8643 GRCh37 1 45292628 45292628 + missense_variant Missense_Mutation SNP G A rs1309925795 TEN_ENDOMETRIUM ENST00000372192.3:c.2641C>T p.Pro881Ser p.P881S ENST00000372192 NM_003738.4 881 Cca/Tca 17/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45292934 45292934 + missense_variant Missense_Mutation SNP G A rs376171572 SNU1040_LARGE_INTESTINE ENST00000372192.3:c.2419C>T p.Arg807Cys p.R807C ENST00000372192 NM_003738.4 807 Cgc/Tgc 16/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45292943 45292943 + missense_variant Missense_Mutation SNP G A rs146570996 HEC59_ENDOMETRIUM ENST00000372192.3:c.2410C>T p.Arg804Cys p.R804C ENST00000372192 NM_003738.4 804 Cgc/Tgc 16/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45293190 45293190 + missense_variant Missense_Mutation SNP G A IGR37_SKIN ENST00000372192.3:c.2255C>T p.Ser752Phe p.S752F ENST00000372192 NM_003738.4 752 tCc/tTc 15/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45293260 45293260 + missense_variant Missense_Mutation SNP C T rs765415578 SNU175_LARGE_INTESTINE ENST00000372192.3:c.2185G>A p.Ala729Thr p.A729T ENST00000372192 NM_003738.4 729 Gcc/Acc 15/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45293338 45293338 + stop_gained Nonsense_Mutation SNP C A HCC1438_LUNG ENST00000372192.3:c.2107G>T p.Gly703Ter p.G703* ENST00000372192 NM_003738.4 703 Gga/Tga 15/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45293555 45293555 + missense_variant Missense_Mutation SNP C A rs760548568 NALM19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000372192.3:c.2018G>T p.Arg673Leu p.R673L ENST00000372192 NM_003738.4 673 cGc/cTc 14/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45293555 45293555 + missense_variant Missense_Mutation SNP C A rs760548568 OVISE_OVARY ENST00000372192.3:c.2018G>T p.Arg673Leu p.R673L ENST00000372192 NM_003738.4 673 cGc/cTc 14/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45293555 45293555 + missense_variant Missense_Mutation SNP C A rs760548568 RCM1_LARGE_INTESTINE ENST00000372192.3:c.2018G>T p.Arg673Leu p.R673L ENST00000372192 NM_003738.4 673 cGc/cTc 14/22 SUCCESS | |
| 1 45293620 45293622 CTC CTC A2780_OVARY FAILED | |
| PTCH2 8643 GRCh37 1 45293660 45293660 + missense_variant Missense_Mutation SNP G C rs753624626 SNUC4_LARGE_INTESTINE ENST00000372192.3:c.1913C>G p.Pro638Arg p.P638R ENST00000372192 NM_003738.4 638 cCt/cGt 14/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45293709 45293709 + missense_variant Missense_Mutation SNP G T rs11573586 C32_SKIN ENST00000372192.3:c.1864C>A p.His622Asn p.H622N ENST00000372192 NM_003738.4 622 Cac/Aac 14/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45293709 45293709 + missense_variant Missense_Mutation SNP G T rs11573586 HCC366_LUNG ENST00000372192.3:c.1864C>A p.His622Asn p.H622N ENST00000372192 NM_003738.4 622 Cac/Aac 14/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45293709 45293709 + missense_variant Missense_Mutation SNP G T rs11573586 KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000372192.3:c.1864C>A p.His622Asn p.H622N ENST00000372192 NM_003738.4 622 Cac/Aac 14/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45293709 45293709 + missense_variant Missense_Mutation SNP G T rs11573586 MFE280_ENDOMETRIUM ENST00000372192.3:c.1864C>A p.His622Asn p.H622N ENST00000372192 NM_003738.4 622 Cac/Aac 14/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45293709 45293709 + missense_variant Missense_Mutation SNP G T rs11573586 NCIH1339_LUNG ENST00000372192.3:c.1864C>A p.His622Asn p.H622N ENST00000372192 NM_003738.4 622 Cac/Aac 14/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45293709 45293709 + missense_variant Missense_Mutation SNP G T rs11573586 TT2609C02_THYROID ENST00000372192.3:c.1864C>A p.His622Asn p.H622N ENST00000372192 NM_003738.4 622 Cac/Aac 14/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45293995 45293995 + missense_variant Missense_Mutation SNP C A NCIH1355_LUNG ENST00000372192.3:c.1682G>T p.Arg561Leu p.R561L ENST00000372192 NM_003738.4 561 cGc/cTc 13/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45294079 45294079 + missense_variant Missense_Mutation SNP A G rs61751010 HCC1187_BREAST ENST00000372192.3:c.1598T>C p.Ile533Thr p.I533T ENST00000372192 NM_003738.4 533 aTa/aCa 13/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45294293 45294293 + missense_variant Missense_Mutation SNP C T HT115_LARGE_INTESTINE ENST00000372192.3:c.1475G>A p.Gly492Asp p.G492D ENST00000372192 NM_003738.4 492 gGc/gAc 12/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45295119 45295119 + missense_variant Missense_Mutation SNP G T SNU81_LARGE_INTESTINE ENST00000372192.3:c.1170C>A p.Phe390Leu p.F390L ENST00000372192 NM_003738.4 390 ttC/ttA 9/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45295169 45295169 + stop_gained Nonsense_Mutation SNP G A rs1268989490 KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000372192.3:c.1120C>T p.Gln374Ter p.Q374* ENST00000372192 NM_003738.4 374 Cag/Tag 9/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45295429 45295429 + missense_variant Missense_Mutation SNP C G rs1330528019 UMUC3_URINARY_TRACT ENST00000372192.3:c.940G>C p.Glu314Gln p.E314Q ENST00000372192 NM_003738.4 314 Gag/Cag 8/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45295593 45295593 + missense_variant Missense_Mutation SNP C T MEWO_SKIN ENST00000372192.3:c.923G>A p.Gly308Glu p.G308E ENST00000372192 NM_003738.4 308 gGa/gAa 7/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45295624 45295624 + missense_variant Missense_Mutation SNP G T HEC251_ENDOMETRIUM ENST00000372192.3:c.892C>A p.Leu298Met p.L298M ENST00000372192 NM_003738.4 298 Ctg/Atg 7/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45295684 45295684 + missense_variant Missense_Mutation SNP C T rs749103409 BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000372192.3:c.832G>A p.Glu278Lys p.E278K ENST00000372192 NM_003738.4 278 Gag/Aag 7/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45295685 45295685 + synonymous_variant Silent SNP G A rs909568880 CL34_LARGE_INTESTINE ENST00000372192.3:c.831C>T p.His277= p.H277= ENST00000372192 NM_003738.4 277 caC/caT 7/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45296543 45296543 + missense_variant Missense_Mutation SNP C T SNUC2A_LARGE_INTESTINE ENST00000372192.3:c.790G>A p.Ala264Thr p.A264T ENST00000372192 NM_003738.4 264 Gcc/Acc 6/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45297396 45297396 + missense_variant Missense_Mutation SNP C A SW48_LARGE_INTESTINE ENST00000372192.3:c.599G>T p.Gly200Val p.G200V ENST00000372192 NM_003738.4 200 gGg/gTg 5/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45297447 45297447 + missense_variant Missense_Mutation SNP C T SNU520_STOMACH ENST00000372192.3:c.548G>A p.Cys183Tyr p.C183Y ENST00000372192 NM_003738.4 183 tGc/tAc 5/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45297648 45297648 + missense_variant,splice_region_variant Missense_Mutation SNP C A rs745322399 MOLM16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000372192.3:c.524G>T p.Arg175Leu p.R175L ENST00000372192 NM_003738.4 175 cGg/cTg 4/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45297838 45297838 + synonymous_variant Silent SNP T C rs758091595 SH10TC_STOMACH ENST00000372192.3:c.441A>G p.Val147= p.V147= ENST00000372192 NM_003738.4 147 gtA/gtG 3/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45297944 45297944 + missense_variant Missense_Mutation SNP G A rs780551626 JEKO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000372192.3:c.335C>T p.Ser112Phe p.S112F ENST00000372192 NM_003738.4 112 tCt/tTt 3/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45297968 45297968 + missense_variant Missense_Mutation SNP A G rs80168454 MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000372192.3:c.311T>C p.Leu104Pro p.L104P ENST00000372192 NM_003738.4 104 cTg/cCg 3/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45297968 45297968 + missense_variant Missense_Mutation SNP A G rs80168454 PC14_LUNG ENST00000372192.3:c.311T>C p.Leu104Pro p.L104P ENST00000372192 NM_003738.4 104 cTg/cCg 3/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45297968 45297968 + missense_variant Missense_Mutation SNP A G rs80168454 PK59_PANCREAS ENST00000372192.3:c.311T>C p.Leu104Pro p.L104P ENST00000372192 NM_003738.4 104 cTg/cCg 3/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45297968 45297968 + missense_variant Missense_Mutation SNP A G rs80168454 QGP1_PANCREAS ENST00000372192.3:c.311T>C p.Leu104Pro p.L104P ENST00000372192 NM_003738.4 104 cTg/cCg 3/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45297968 45297968 + missense_variant Missense_Mutation SNP A G rs80168454 SNU407_LARGE_INTESTINE ENST00000372192.3:c.311T>C p.Leu104Pro p.L104P ENST00000372192 NM_003738.4 104 cTg/cCg 3/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45297982 45297982 + stop_gained Nonsense_Mutation SNP G T NCIH510_LUNG ENST00000372192.3:c.297C>A p.Tyr99Ter p.Y99* ENST00000372192 NM_003738.4 99 taC/taA 3/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45307547 45307547 + missense_variant Missense_Mutation SNP C G L428_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000372192.3:c.237G>C p.Glu79Asp p.E79D ENST00000372192 NM_003738.4 79 gaG/gaC 2/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45307556 45307556 + synonymous_variant Silent SNP G A rs1471832432 MEWO_SKIN ENST00000372192.3:c.228C>T p.Ala76= p.A76= ENST00000372192 NM_003738.4 76 gcC/gcT 2/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45307557 45307557 + missense_variant Missense_Mutation SNP G A HEC1B_ENDOMETRIUM ENST00000372192.3:c.227C>T p.Ala76Val p.A76V ENST00000372192 NM_003738.4 76 gCc/gTc 2/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45307563 45307563 + missense_variant Missense_Mutation SNP C T rs771760736 MOLM16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000372192.3:c.221G>A p.Arg74His p.R74H ENST00000372192 NM_003738.4 74 cGc/cAc 2/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45307668 45307668 + missense_variant Missense_Mutation SNP T A rs746706971 KP4_PANCREAS ENST00000372192.3:c.116A>T p.Tyr39Phe p.Y39F ENST00000372192 NM_003738.4 39 tAc/tTc 2/22 SUCCESS | |
| PTCH2 8643 GRCh37 1 45307685 45307685 + synonymous_variant Silent SNP T C HEC151_ENDOMETRIUM ENST00000372192.3:c.99A>G p.Pro33= p.P33= ENST00000372192 NM_003738.4 33 ccA/ccG 2/22 SUCCESS | |
| 1 45794921 45794921 A A RKO_LARGE_INTESTINE FAILED | |
| 1 45794939 45794941 AAC AAC RERFLCAD2_LUNG FAILED | |
| 1 45794939 45794941 AAC AAC SKM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 45794939 45794941 AAC AAC SNU5_STOMACH FAILED | |
| MUTYH 4595 GRCh37 1 45794955 45794955 + 3_prime_UTR_variant 3'UTR SNP G T HEC1A_ENDOMETRIUM ENST00000372115.3:c.*23C>A ENST00000372115 NM_001048171.1 16/16 SUCCESS | |
| MUTYH 4595 GRCh37 1 45795019 45795019 + missense_variant Missense_Mutation SNP T G KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000372115.3:c.1567A>C p.Ile523Leu p.I523L ENST00000372115 NM_001048171.1 523 Atc/Ctc 16/16 SUCCESS | |
| MUTYH 4595 GRCh37 1 45796913 45796913 + missense_variant Missense_Mutation SNP C T rs192816572 UMUC3_URINARY_TRACT ENST00000372115.3:c.1375G>A p.Ala459Thr p.A459T ENST00000372115 NM_001048171.1 459 Gct/Act 14/16 SUCCESS | |
| MUTYH 4595 GRCh37 1 45797135 45797135 + missense_variant Missense_Mutation SNP C A rs876658787 BT549_BREAST ENST00000372115.3:c.1238G>T p.Trp413Leu p.W413L ENST00000372115 NM_001048171.1 413 tGg/tTg 13/16 SUCCESS | |
| MUTYH 4595 GRCh37 1 45797746 45797746 + missense_variant Missense_Mutation SNP G T NCIH1930_LUNG ENST00000372115.3:c.904C>A p.Gln302Lys p.Q302K ENST00000372115 NM_001048171.1 302 Cag/Aag 11/16 SUCCESS | |
| MUTYH 4595 GRCh37 1 45798247 45798247 + missense_variant,splice_region_variant Missense_Mutation SNP T A NCIH1573_LUNG ENST00000372115.3:c.647A>T p.Gln216Leu p.Q216L ENST00000372115 NM_001048171.1 216 cAg/cTg 8/16 SUCCESS | |
| MUTYH 4595 GRCh37 1 45798449 45798449 + missense_variant Missense_Mutation SNP C T rs1428261191 MDAPCA2B_PROSTATE ENST00000372115.3:c.520G>A p.Glu174Lys p.E174K ENST00000372115 NM_001048171.1 174 Gag/Aag 7/16 SUCCESS | |
| MUTYH 4595 GRCh37 1 45798478 45798478 + missense_variant Missense_Mutation SNP C T HEC6_ENDOMETRIUM ENST00000372115.3:c.491G>A p.Gly164Asp p.G164D ENST00000372115 NM_001048171.1 164 gGc/gAc 7/16 SUCCESS | |
| MUTYH 4595 GRCh37 1 45798500 45798500 + missense_variant Missense_Mutation SNP T G AGS_STOMACH ENST00000372115.3:c.469A>C p.Asn157His p.N157H ENST00000372115 NM_001048171.1 157 Aat/Cat 7/16 SUCCESS | |
| MUTYH 4595 GRCh37 1 45798833 45798833 + missense_variant Missense_Mutation SNP G A NCIH1623_LUNG ENST00000372115.3:c.356C>T p.Ser119Leu p.S119L ENST00000372115 NM_001048171.1 119 tCa/tTa 5/16 SUCCESS | |
| MUTYH 4595 GRCh37 1 45798844 45798845 + splice_region_variant,intron_variant Splice_Region INS - G CW2_LARGE_INTESTINE ENST00000372115.3:c.347-3dup p.X116_splice ENST00000372115 NM_001048171.1 116 SUCCESS | |
| MUTYH 4595 GRCh37 1 45798981 45798981 + missense_variant Missense_Mutation SNP C A NCIH358_LUNG ENST00000372115.3:c.322G>T p.Asp108Tyr p.D108Y ENST00000372115 NM_001048171.1 108 Gac/Tac 4/16 SUCCESS | |
| MUTYH 4595 GRCh37 1 45799143 45799143 + missense_variant Missense_Mutation SNP C T rs755653922 LS513_LARGE_INTESTINE ENST00000372115.3:c.248G>A p.Arg83Gln p.R83Q ENST00000372115 NM_001048171.1 83 cGa/cAa 3/16 SUCCESS | |
| MUTYH 4595 GRCh37 1 45799143 45799143 + missense_variant Missense_Mutation SNP C T rs755653922 NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000372115.3:c.248G>A p.Arg83Gln p.R83Q ENST00000372115 NM_001048171.1 83 cGa/cAa 3/16 SUCCESS | |
| MUTYH 4595 GRCh37 1 45799189 45799189 + missense_variant Missense_Mutation SNP A T NCIH2106_LUNG ENST00000372115.3:c.202T>A p.Ser68Thr p.S68T ENST00000372115 NM_001048171.1 68 Tcc/Acc 3/16 SUCCESS | |
| MUTYH 4595 GRCh37 1 45799243 45799243 + intron_variant Intron SNP C A NCIH2110_LUNG ENST00000372115.3:c.158-10G>T p.*53* ENST00000372115 NM_001048171.1 SUCCESS | |
| MUTYH 4595 GRCh37 1 45800115 45800115 + synonymous_variant Silent SNP C T HEC6_ENDOMETRIUM ENST00000372115.3:c.105G>A p.Gly35= p.G35= ENST00000372115 NM_001048171.1 35 ggG/ggA 2/16 SUCCESS | |
| TOE1 114034 GRCh37 1 45805779 45805779 + 5_prime_UTR_variant 5'UTR SNP G C SNU520_STOMACH ENST00000372090.5:c.-146G>C p.*49* ENST00000372090 NM_025077.3 1/8 SUCCESS | |
| TOE1 114034 GRCh37 1 45805788 45805788 + 5_prime_UTR_variant 5'UTR SNP C T rs531082101 U937_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000372090.5:c.-137C>T p.*46* ENST00000372090 NM_025077.3 1/8 SUCCESS | |
| TOE1 114034 GRCh37 1 45805789 45805789 + 5_prime_UTR_variant 5'UTR SNP G C rs1646782056 JM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000372090.5:c.-136G>C p.*46* ENST00000372090 NM_025077.3 1/8 SUCCESS | |
| TOE1 114034 GRCh37 1 45805816 45805816 + 5_prime_UTR_variant 5'UTR SNP G C rs3219467 SUDHL10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000372090.5:c.-109G>C p.*37* ENST00000372090 NM_025077.3 1/8 SUCCESS | |
| TOE1 114034 GRCh37 1 45805816 45805816 + 5_prime_UTR_variant 5'UTR SNP G C rs3219467 SUDHL5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000372090.5:c.-109G>C p.*37* ENST00000372090 NM_025077.3 1/8 SUCCESS | |
| TOE1 114034 GRCh37 1 45805929 45805929 + missense_variant Missense_Mutation SNP C T rs748689064 639V_URINARY_TRACT ENST00000372090.5:c.5C>T p.Ala2Val p.A2V ENST00000372090 NM_025077.3 2 gCc/gTc 1/8 SUCCESS | |
| TOE1 114034 GRCh37 1 45805930 45805930 + synonymous_variant Silent SNP C T rs876659248 NCIH647_LUNG ENST00000372090.5:c.6C>T p.Ala2= p.A2= ENST00000372090 NM_025077.3 2 gcC/gcT 1/8 SUCCESS | |
| MUTYH 4595 GRCh37 1 45806023 45806023 + 5_prime_UTR_variant 5'UTR SNP A T SNGM_ENDOMETRIUM ENST00000372115.3:c.-97T>A p.*33* ENST00000372115 NM_001048171.1 1/16 SUCCESS | |
| MUTYH 4595 GRCh37 1 45806041 45806041 + 5_prime_UTR_variant 5'UTR SNP C A SW403_LARGE_INTESTINE ENST00000372115.3:c.-115G>T p.*39* ENST00000372115 NM_001048171.1 1/16 SUCCESS | |
| TESK2 10420 GRCh37 1 45810378 45810378 + 3_prime_UTR_variant 3'UTR SNP C A rs1647112633 CAL33_UPPER_AERODIGESTIVE_TRACT ENST00000372086.3:c.*134G>T ENST00000372086 NM_007170.2 11/11 SUCCESS | |
| TESK2 10420 GRCh37 1 45810380 45810380 + 3_prime_UTR_variant 3'UTR SNP A G rs1647112664 CAL33_UPPER_AERODIGESTIVE_TRACT ENST00000372086.3:c.*132T>C ENST00000372086 NM_007170.2 11/11 SUCCESS | |
| TESK2 10420 GRCh37 1 45810453 45810453 + 3_prime_UTR_variant 3'UTR SNP G T rs1570628302 RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000372086.3:c.*59C>A ENST00000372086 NM_007170.2 11/11 SUCCESS | |
| TESK2 10420 GRCh37 1 45810488 45810488 + 3_prime_UTR_variant 3'UTR SNP A G rs750517058 JHH7_LIVER ENST00000372086.3:c.*24T>C ENST00000372086 NM_007170.2 11/11 SUCCESS | |
| TESK2 10420 GRCh37 1 45810488 45810488 + 3_prime_UTR_variant 3'UTR SNP A G rs750517058 KU1919_URINARY_TRACT ENST00000372086.3:c.*24T>C ENST00000372086 NM_007170.2 11/11 SUCCESS | |
| TESK2 10420 GRCh37 1 45810531 45810531 + missense_variant Missense_Mutation SNP T C rs201686349 HS742T_BREAST ENST00000372086.3:c.1697A>G p.Gln566Arg p.Q566R ENST00000372086 NM_007170.2 566 cAg/cGg 11/11 SUCCESS | |
| TESK2 10420 GRCh37 1 45810532 45810532 + stop_gained Nonsense_Mutation SNP G A BICR16_UPPER_AERODIGESTIVE_TRACT ENST00000372086.3:c.1696C>T p.Gln566Ter p.Q566* ENST00000372086 NM_007170.2 566 Cag/Tag 11/11 SUCCESS | |
| TESK2 10420 GRCh37 1 45810775 45810775 + missense_variant Missense_Mutation SNP G A rs754978881 TT_OESOPHAGUS ENST00000372086.3:c.1453C>T p.Arg485Cys p.R485C ENST00000372086 NM_007170.2 485 Cgc/Tgc 11/11 SUCCESS | |
| TESK2 10420 GRCh37 1 45810870 45810870 + missense_variant Missense_Mutation SNP C T rs753719830 SNUC4_LARGE_INTESTINE ENST00000372086.3:c.1358G>A p.Arg453Gln p.R453Q ENST00000372086 NM_007170.2 453 cGg/cAg 11/11 SUCCESS | |
| TESK2 10420 GRCh37 1 45810952 45810952 + missense_variant Missense_Mutation SNP G C KMBC2_URINARY_TRACT ENST00000372086.3:c.1276C>G p.Leu426Val p.L426V ENST00000372086 NM_007170.2 426 Ctg/Gtg 11/11 SUCCESS | |
| TESK2 10420 GRCh37 1 45811014 45811014 + missense_variant Missense_Mutation SNP C T rs1469428926 SNUC5_LARGE_INTESTINE ENST00000372086.3:c.1214G>A p.Arg405His p.R405H ENST00000372086 NM_007170.2 405 cGc/cAc 11/11 SUCCESS | |
| TESK2 10420 GRCh37 1 45811038 45811038 + missense_variant Missense_Mutation SNP G A SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000372086.3:c.1190C>T p.Pro397Leu p.P397L ENST00000372086 NM_007170.2 397 cCc/cTc 11/11 SUCCESS | |
| TESK2 10420 GRCh37 1 45811131 45811131 + missense_variant Missense_Mutation SNP C T rs770863608 SNU520_STOMACH ENST00000372086.3:c.1097G>A p.Arg366Gln p.R366Q ENST00000372086 NM_007170.2 366 cGa/cAa 11/11 SUCCESS | |
| TESK2 10420 GRCh37 1 45811650 45811650 + missense_variant Missense_Mutation SNP C T rs201222735 2313287_STOMACH ENST00000372086.3:c.896G>A p.Arg299His p.R299H ENST00000372086 NM_007170.2 299 cGc/cAc 10/11 SUCCESS | |
| TESK2 10420 GRCh37 1 45811651 45811651 + missense_variant Missense_Mutation SNP G A rs748751819 SNU1040_LARGE_INTESTINE ENST00000372086.3:c.895C>T p.Arg299Cys p.R299C ENST00000372086 NM_007170.2 299 Cgc/Tgc 10/11 SUCCESS | |
| TESK2 10420 GRCh37 1 45812692 45812692 + missense_variant Missense_Mutation SNP C T rs374778347 PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000372086.3:c.751G>A p.Ala251Thr p.A251T ENST00000372086 NM_007170.2 251 Gcc/Acc 8/11 SUCCESS | |
| TESK2 10420 GRCh37 1 45820996 45820996 + synonymous_variant Silent SNP A G BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000372086.3:c.519T>C p.Phe173= p.F173= ENST00000372086 NM_007170.2 173 ttT/ttC 5/11 SUCCESS | |
| TESK2 10420 GRCh37 1 45887400 45887400 + missense_variant Missense_Mutation SNP A G HEC265_ENDOMETRIUM ENST00000372086.3:c.341T>C p.Leu114Pro p.L114P ENST00000372086 NM_007170.2 114 cTt/cCt 3/11 SUCCESS | |
| TESK2 10420 GRCh37 1 45887458 45887458 + missense_variant Missense_Mutation SNP G A rs372388070 SNGM_ENDOMETRIUM ENST00000372086.3:c.283C>T p.Arg95Trp p.R95W ENST00000372086 NM_007170.2 95 Cgg/Tgg 3/11 SUCCESS | |
| TESK2 10420 GRCh37 1 45887471 45887471 + synonymous_variant Silent SNP T A NCIH2023_LUNG ENST00000372086.3:c.270A>T p.Thr90= p.T90= ENST00000372086 NM_007170.2 90 acA/acT 3/11 SUCCESS | |
| TESK2 10420 GRCh37 1 45887508 45887508 + missense_variant Missense_Mutation SNP C T rs748458464 ESS1_ENDOMETRIUM ENST00000372086.3:c.233G>A p.Arg78Gln p.R78Q ENST00000372086 NM_007170.2 78 cGa/cAa 3/11 SUCCESS | |
| TESK2 10420 GRCh37 1 45887508 45887508 + missense_variant Missense_Mutation SNP C T rs748458464 WM88_SKIN ENST00000372086.3:c.233G>A p.Arg78Gln p.R78Q ENST00000372086 NM_007170.2 78 cGa/cAa 3/11 SUCCESS | |
| TESK2 10420 GRCh37 1 45887515 45887515 + stop_gained Nonsense_Mutation SNP G A rs201108031 LOVO_LARGE_INTESTINE ENST00000372086.3:c.226C>T p.Arg76Ter p.R76* ENST00000372086 NM_007170.2 76 Cga/Tga 3/11 SUCCESS | |
| TESK2 10420 GRCh37 1 45887515 45887515 + synonymous_variant Silent SNP G T TE1_OESOPHAGUS ENST00000372086.3:c.226C>A p.Arg76= p.R76= ENST00000372086 NM_007170.2 76 Cga/Aga 3/11 SUCCESS | |
| TESK2 10420 GRCh37 1 45923296 45923296 + synonymous_variant Silent SNP C T rs1265936469 GP2D_LARGE_INTESTINE ENST00000372086.3:c.162G>A p.Thr54= p.T54= ENST00000372086 NM_007170.2 54 acG/acA 2/11 SUCCESS | |
| TESK2 10420 GRCh37 1 45923311 45923311 + synonymous_variant Silent SNP G T HEC108_ENDOMETRIUM ENST00000372086.3:c.147C>A p.Ala49= p.A49= ENST00000372086 NM_007170.2 49 gcC/gcA 2/11 SUCCESS | |
| TESK2 10420 GRCh37 1 45923406 45923406 + missense_variant Missense_Mutation SNP G A rs1038580098 OVK18_OVARY ENST00000372086.3:c.52C>T p.Arg18Cys p.R18C ENST00000372086 NM_007170.2 18 Cgt/Tgt 2/11 SUCCESS | |
| TESK2 10420 GRCh37 1 45923426 45923426 + missense_variant Missense_Mutation SNP C G rs1428512439 HCC1599_BREAST ENST00000372086.3:c.32G>C p.Gly11Ala p.G11A ENST00000372086 NM_007170.2 11 gGa/gCa 2/11 SUCCESS | |
| TESK2 10420 GRCh37 1 45923458 45923458 + 5_prime_UTR_variant 5'UTR SNP A G EN_ENDOMETRIUM ENST00000372086.3:c.-1T>C p.*1* ENST00000372086 NM_007170.2 2/11 SUCCESS | |
| 1 45923480 45923484 TTCTT TTCTT JK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| TESK2 10420 GRCh37 1 45923498 45923498 + 5_prime_UTR_variant 5'UTR SNP C G rs780016167 TE4_OESOPHAGUS ENST00000372086.3:c.-41G>C p.*14* ENST00000372086 NM_007170.2 2/11 SUCCESS | |
| TESK2 10420 GRCh37 1 45923525 45923525 + 5_prime_UTR_variant 5'UTR SNP C A JHUEM7_ENDOMETRIUM ENST00000372086.3:c.-68G>T p.*23* ENST00000372086 NM_007170.2 2/11 SUCCESS | |
| TESK2 10420 GRCh37 1 45923545 45923545 + splice_acceptor_variant Splice_Site SNP T C MFE319_ENDOMETRIUM ENST00000372086.3:c.-86-2A>G p.X29_splice ENST00000372086 NM_007170.2 29 SUCCESS | |
| MAST2 23139 GRCh37 1 46290214 46290214 + missense_variant Missense_Mutation SNP G T rs770280032 SNU1033_LARGE_INTESTINE ENST00000361297.2:c.287G>T p.Cys96Phe p.C96F ENST00000361297 NM_015112.2 96 tGt/tTt 2/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46295147 46295147 + missense_variant Missense_Mutation SNP G C rs202109232 DMS114_LUNG ENST00000361297.2:c.362G>C p.Ser121Thr p.S121T ENST00000361297 NM_015112.2 121 aGc/aCc 3/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46295147 46295147 + missense_variant Missense_Mutation SNP G C rs202109232 MG63_BONE ENST00000361297.2:c.362G>C p.Ser121Thr p.S121T ENST00000361297 NM_015112.2 121 aGc/aCc 3/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46295200 46295200 + stop_gained Nonsense_Mutation SNP C T rs1557811871 K029AX_SKIN ENST00000361297.2:c.415C>T p.Arg139Ter p.R139* ENST00000361297 NM_015112.2 139 Cga/Tga 3/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46295210 46295210 + missense_variant Missense_Mutation SNP A G HEC265_ENDOMETRIUM ENST00000361297.2:c.425A>G p.Asn142Ser p.N142S ENST00000361297 NM_015112.2 142 aAc/aGc 3/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46295233 46295233 + missense_variant Missense_Mutation SNP C T MFE319_ENDOMETRIUM ENST00000361297.2:c.448C>T p.Pro150Ser p.P150S ENST00000361297 NM_015112.2 150 Cct/Tct 3/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46295251 46295252 + missense_variant,splice_region_variant Missense_Mutation DNP CT GA MFE296_ENDOMETRIUM ENST00000361297.2:c.466_467delinsGA p.Leu156Glu p.L156E ENST00000361297 NM_015112.2 156 CTg/GAg 3/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46348035 46348035 + splice_acceptor_variant Splice_Site SNP G T LNCAPCLONEFGC_PROSTATE ENST00000361297.2:c.469-1G>T p.X157_splice ENST00000361297 NM_015112.2 157 SUCCESS | |
| MAST2 23139 GRCh37 1 46425063 46425063 + missense_variant Missense_Mutation SNP G A rs959178314 NALM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000361297.2:c.506G>A p.Arg169Gln p.R169Q ENST00000361297 NM_015112.2 169 cGg/cAg 5/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46425074 46425074 + missense_variant Missense_Mutation SNP C T rs1156982941 SNU175_LARGE_INTESTINE ENST00000361297.2:c.517C>T p.Arg173Cys p.R173C ENST00000361297 NM_015112.2 173 Cgc/Tgc 5/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46425079 46425079 + missense_variant Missense_Mutation SNP G C MDAMB453_BREAST ENST00000361297.2:c.522G>C p.Lys174Asn p.K174N ENST00000361297 NM_015112.2 174 aaG/aaC 5/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46425122 46425122 + missense_variant Missense_Mutation SNP C T HEC108_ENDOMETRIUM ENST00000361297.2:c.565C>T p.Pro189Ser p.P189S ENST00000361297 NM_015112.2 189 Cca/Tca 5/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46463395 46463395 + splice_acceptor_variant Splice_Site SNP G T EN_ENDOMETRIUM ENST00000361297.2:c.593-1G>T p.X198_splice ENST00000361297 NM_015112.2 198 SUCCESS | |
| MAST2 23139 GRCh37 1 46463405 46463405 + missense_variant Missense_Mutation SNP C A CW2_LARGE_INTESTINE ENST00000361297.2:c.602C>A p.Pro201His p.P201H ENST00000361297 NM_015112.2 201 cCt/cAt 6/29 SUCCESS | |
| 1 46463406 46463406 T T SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| MAST2 23139 GRCh37 1 46463427 46463427 + synonymous_variant Silent SNP C T 639V_URINARY_TRACT ENST00000361297.2:c.624C>T p.Phe208= p.F208= ENST00000361297 NM_015112.2 208 ttC/ttT 6/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46471935 46471935 + missense_variant Missense_Mutation SNP A C LOVO_LARGE_INTESTINE ENST00000361297.2:c.770A>C p.Lys257Thr p.K257T ENST00000361297 NM_015112.2 257 aAg/aCg 8/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46471986 46471986 + missense_variant Missense_Mutation SNP C T rs762739884 A673_BONE ENST00000361297.2:c.821C>T p.Thr274Met p.T274M ENST00000361297 NM_015112.2 274 aCg/aTg 8/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46473981 46473981 + missense_variant Missense_Mutation SNP C T 22RV1_PROSTATE ENST00000361297.2:c.916C>T p.Pro306Ser p.P306S ENST00000361297 NM_015112.2 306 Cca/Tca 9/29 SUCCESS | |
| 1 46476453 46476453 C C SNU1196_BILIARY_TRACT FAILED | |
| MAST2 23139 GRCh37 1 46476462 46476462 + missense_variant Missense_Mutation SNP G A rs888773992 HS618T_LUNG ENST00000361297.2:c.1039G>A p.Val347Met p.V347M ENST00000361297 NM_015112.2 347 Gtg/Atg 10/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46476489 46476489 + missense_variant Missense_Mutation SNP A G PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000361297.2:c.1066A>G p.Ser356Gly p.S356G ENST00000361297 NM_015112.2 356 Agc/Ggc 10/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46476489 46476489 + missense_variant Missense_Mutation SNP A C SNU175_LARGE_INTESTINE ENST00000361297.2:c.1066A>C p.Ser356Arg p.S356R ENST00000361297 NM_015112.2 356 Agc/Cgc 10/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46485290 46485290 + stop_gained Nonsense_Mutation SNP C G rs763061120 G402_SOFT_TISSUE ENST00000361297.2:c.1211C>G p.Ser404Ter p.S404* ENST00000361297 NM_015112.2 404 tCa/tGa 11/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46487631 46487631 + missense_variant Missense_Mutation SNP C T KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000361297.2:c.1300C>T p.Pro434Ser p.P434S ENST00000361297 NM_015112.2 434 Cct/Tct 12/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46487673 46487673 + missense_variant Missense_Mutation SNP G A rs749684141 HEC59_ENDOMETRIUM ENST00000361297.2:c.1342G>A p.Ala448Thr p.A448T ENST00000361297 NM_015112.2 448 Gcc/Acc 12/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46489476 46489476 + missense_variant Missense_Mutation SNP G A rs778637041 CAL851_BREAST ENST00000361297.2:c.1604G>A p.Arg535Gln p.R535Q ENST00000361297 NM_015112.2 535 cGg/cAg 15/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46489701 46489701 + intron_variant Intron SNP A G rs769138023 HCT116_LARGE_INTESTINE ENST00000361297.2:c.1780+49A>G p.*594* ENST00000361297 NM_015112.2 SUCCESS | |
| MAST2 23139 GRCh37 1 46489704 46489704 + intron_variant Intron SNP T C RKO_LARGE_INTESTINE ENST00000361297.2:c.1780+52T>C p.*594* ENST00000361297 NM_015112.2 SUCCESS | |
| MAST2 23139 GRCh37 1 46489767 46489767 + intron_variant Intron SNP C T PL21_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000361297.2:c.1780+115C>T p.*594* ENST00000361297 NM_015112.2 SUCCESS | |
| MAST2 23139 GRCh37 1 46489812 46489812 + intron_variant Intron SNP G T KYSE450_OESOPHAGUS ENST00000361297.2:c.1780+160G>T p.*594* ENST00000361297 NM_015112.2 SUCCESS | |
| MAST2 23139 GRCh37 1 46491405 46491405 + missense_variant Missense_Mutation SNP C T rs1324682611 SNUC2A_LARGE_INTESTINE ENST00000361297.2:c.1837C>T p.Arg613Cys p.R613C ENST00000361297 NM_015112.2 613 Cgt/Tgt 16/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46491477 46491477 + missense_variant Missense_Mutation SNP A G JHUEM1_ENDOMETRIUM ENST00000361297.2:c.1909A>G p.Lys637Glu p.K637E ENST00000361297 NM_015112.2 637 Aag/Gag 16/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46493479 46493479 + missense_variant Missense_Mutation SNP A T HS683_CENTRAL_NERVOUS_SYSTEM ENST00000361297.2:c.1996A>T p.Thr666Ser p.T666S ENST00000361297 NM_015112.2 666 Acg/Tcg 17/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46493500 46493500 + missense_variant Missense_Mutation SNP A C KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000361297.2:c.2017A>C p.Ile673Leu p.I673L ENST00000361297 NM_015112.2 673 Att/Ctt 17/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46494482 46494482 + missense_variant Missense_Mutation SNP C T rs749580795 SNU1040_LARGE_INTESTINE ENST00000361297.2:c.2095C>T p.Arg699Cys p.R699C ENST00000361297 NM_015112.2 699 Cgc/Tgc 18/29 SUCCESS | |
| 1 46494559 46494559 T T LS180_LARGE_INTESTINE FAILED | |
| MAST2 23139 GRCh37 1 46494569 46494569 + missense_variant Missense_Mutation SNP G T KM12_LARGE_INTESTINE ENST00000361297.2:c.2182G>T p.Asp728Tyr p.D728Y ENST00000361297 NM_015112.2 728 Gat/Tat 18/29 SUCCESS | |
| 1 46495173 46495173 C C REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| MAST2 23139 GRCh37 1 46495565 46495565 + missense_variant Missense_Mutation SNP C T rs745570300 MEWO_SKIN ENST00000361297.2:c.2383C>T p.Arg795Cys p.R795C ENST00000361297 NM_015112.2 795 Cgc/Tgc 20/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46496708 46496709 + missense_variant Missense_Mutation DNP CA TG WM88_SKIN ENST00000361297.2:c.2738_2739inv p.Ser913Leu p.S913L ENST00000361297 NM_015112.2 913 tCA/tTG 23/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46496749 46496749 + stop_gained Nonsense_Mutation SNP C T rs765514830 SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000361297.2:c.2779C>T p.Arg927Ter p.R927* ENST00000361297 NM_015112.2 927 Cga/Tga 23/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46496758 46496758 + missense_variant Missense_Mutation SNP T C rs200095545 KMS12BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000361297.2:c.2788T>C p.Cys930Arg p.C930R ENST00000361297 NM_015112.2 930 Tgc/Cgc 23/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46496888 46496888 + missense_variant Missense_Mutation SNP T G SNU81_LARGE_INTESTINE ENST00000361297.2:c.2918T>G p.Val973Gly p.V973G ENST00000361297 NM_015112.2 973 gTc/gGc 23/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46497150 46497151 + missense_variant Missense_Mutation DNP GC AT HEC108_ENDOMETRIUM ENST00000361297.2:c.3080_3081delinsAT p.Arg1027His p.R1027H ENST00000361297 NM_015112.2 1027 cGC/cAT 24/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46497156 46497156 + missense_variant Missense_Mutation SNP G A rs552987688 SNU520_STOMACH ENST00000361297.2:c.3086G>A p.Arg1029Gln p.R1029Q ENST00000361297 NM_015112.2 1029 cGg/cAg 24/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46497185 46497185 + missense_variant Missense_Mutation SNP C A SNU1040_LARGE_INTESTINE ENST00000361297.2:c.3115C>A p.Arg1039Ser p.R1039S ENST00000361297 NM_015112.2 1039 Cgc/Agc 24/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46497930 46497930 + missense_variant Missense_Mutation SNP C T VMCUB1_URINARY_TRACT ENST00000361297.2:c.3268C>T p.Pro1090Ser p.P1090S ENST00000361297 NM_015112.2 1090 Cca/Tca 25/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46497939 46497939 + missense_variant Missense_Mutation SNP G C rs751984188 SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000361297.2:c.3277G>C p.Asp1093His p.D1093H ENST00000361297 NM_015112.2 1093 Gac/Cac 25/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46498017 46498017 + missense_variant Missense_Mutation SNP C T rs768117856 RERFLCAD2_LUNG ENST00000361297.2:c.3355C>T p.Arg1119Trp p.R1119W ENST00000361297 NM_015112.2 1119 Cgg/Tgg 25/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46499504 46499504 + missense_variant Missense_Mutation SNP C T MDST8_LARGE_INTESTINE ENST00000361297.2:c.3568C>T p.Pro1190Ser p.P1190S ENST00000361297 NM_015112.2 1190 Ccc/Tcc 27/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46499610 46499610 + missense_variant,splice_region_variant Missense_Mutation SNP G C VMRCRCW_KIDNEY ENST00000361297.2:c.3674G>C p.Ser1225Thr p.S1225T ENST00000361297 NM_015112.2 1225 aGc/aCc 27/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46499768 46499768 + missense_variant Missense_Mutation SNP G A rs372374723 NCIH661_LUNG ENST00000361297.2:c.3698G>A p.Arg1233His p.R1233H ENST00000361297 NM_015112.2 1233 cGc/cAc 28/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46499771 46499771 + missense_variant Missense_Mutation SNP A G rs202082116 OAW42_OVARY ENST00000361297.2:c.3701A>G p.Lys1234Arg p.K1234R ENST00000361297 NM_015112.2 1234 aAg/aGg 28/29 SUCCESS | |
| 1 46499885 46499885 C C HEC265_ENDOMETRIUM FAILED | |
| 1 46499885 46499885 C C KM12_LARGE_INTESTINE FAILED | |
| MAST2 23139 GRCh37 1 46499923 46499923 + missense_variant Missense_Mutation SNP G A rs1427036573 KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000361297.2:c.3853G>A p.Asp1285Asn p.D1285N ENST00000361297 NM_015112.2 1285 Gat/Aat 28/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46500302 46500302 + missense_variant Missense_Mutation SNP G A rs777818551 SNU407_LARGE_INTESTINE ENST00000361297.2:c.3961G>A p.Gly1321Ser p.G1321S ENST00000361297 NM_015112.2 1321 Ggt/Agt 29/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46500333 46500333 + missense_variant Missense_Mutation SNP G A rs377110475 SNUC2A_LARGE_INTESTINE ENST00000361297.2:c.3992G>A p.Arg1331His p.R1331H ENST00000361297 NM_015112.2 1331 cGc/cAc 29/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46500336 46500336 + missense_variant Missense_Mutation SNP C T TT_OESOPHAGUS ENST00000361297.2:c.3995C>T p.Ser1332Phe p.S1332F ENST00000361297 NM_015112.2 1332 tCt/tTt 29/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46500509 46500509 + missense_variant Missense_Mutation SNP C T rs369480412 FTC238_THYROID ENST00000361297.2:c.4168C>T p.Arg1390Trp p.R1390W ENST00000361297 NM_015112.2 1390 Cgg/Tgg 29/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46500573 46500573 + missense_variant Missense_Mutation SNP T G SAOS2_BONE ENST00000361297.2:c.4232T>G p.Leu1411Arg p.L1411R ENST00000361297 NM_015112.2 1411 cTg/cGg 29/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46500579 46500579 + missense_variant Missense_Mutation SNP C G rs200868679 D341MED_CENTRAL_NERVOUS_SYSTEM ENST00000361297.2:c.4238C>G p.Ala1413Gly p.A1413G ENST00000361297 NM_015112.2 1413 gCa/gGa 29/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46500870 46500870 + missense_variant Missense_Mutation SNP A G MFE319_ENDOMETRIUM ENST00000361297.2:c.4529A>G p.Glu1510Gly p.E1510G ENST00000361297 NM_015112.2 1510 gAa/gGa 29/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46501206 46501206 + missense_variant Missense_Mutation SNP T A SAOS2_BONE ENST00000361297.2:c.4865T>A p.Leu1622His p.L1622H ENST00000361297 NM_015112.2 1622 cTc/cAc 29/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46501323 46501323 + missense_variant Missense_Mutation SNP T G JHUEM7_ENDOMETRIUM ENST00000361297.2:c.4982T>G p.Leu1661Arg p.L1661R ENST00000361297 NM_015112.2 1661 cTt/cGt 29/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46501328 46501328 + stop_gained Nonsense_Mutation SNP G T HCC202_BREAST ENST00000361297.2:c.4987G>T p.Glu1663Ter p.E1663* ENST00000361297 NM_015112.2 1663 Gag/Tag 29/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46501376 46501376 + missense_variant Missense_Mutation SNP G A rs1342100436 SKNFI_AUTONOMIC_GANGLIA ENST00000361297.2:c.5035G>A p.Gly1679Arg p.G1679R ENST00000361297 NM_015112.2 1679 Ggg/Agg 29/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46501477 46501477 + missense_variant Missense_Mutation SNP A T rs780861903 GOS3_CENTRAL_NERVOUS_SYSTEM ENST00000361297.2:c.5136A>T p.Arg1712Ser p.R1712S ENST00000361297 NM_015112.2 1712 agA/agT 29/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46501541 46501541 + missense_variant Missense_Mutation SNP G A rs751340393 KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000361297.2:c.5200G>A p.Ala1734Thr p.A1734T ENST00000361297 NM_015112.2 1734 Gca/Aca 29/29 SUCCESS | |
| MAST2 23139 GRCh37 1 46501617 46501617 + missense_variant Missense_Mutation SNP G A SNU1040_LARGE_INTESTINE ENST00000361297.2:c.5276G>A p.Cys1759Tyr p.C1759Y ENST00000361297 NM_015112.2 1759 tGc/tAc 29/29 SUCCESS | |
| MKNK1 8569 GRCh37 1 47023951 47023951 + 3_prime_UTR_variant 3'UTR SNP C G rs191133307 CAL78_BONE ENST00000371946.4:c.*296G>C ENST00000371946 NM_003684.5 14/14 SUCCESS | |
| MKNK1 8569 GRCh37 1 47024300 47024300 + missense_variant Missense_Mutation SNP C A NCIH1573_LUNG ENST00000371946.4:c.1345G>T p.Ala449Ser p.A449S ENST00000371946 NM_003684.5 449 Gcc/Tcc 14/14 SUCCESS | |
| MKNK1 8569 GRCh37 1 47024303 47024303 + missense_variant Missense_Mutation SNP G A rs144775684 FTC238_THYROID ENST00000371946.4:c.1342C>T p.Arg448Trp p.R448W ENST00000371946 NM_003684.5 448 Cgg/Tgg 14/14 SUCCESS | |
| MKNK1 8569 GRCh37 1 47024305 47024305 + missense_variant Missense_Mutation SNP C T rs1569960550 HSC4_UPPER_AERODIGESTIVE_TRACT ENST00000371946.4:c.1340G>A p.Arg447Lys p.R447K ENST00000371946 NM_003684.5 447 aGa/aAa 14/14 SUCCESS | |
| MKNK1 8569 GRCh37 1 47024326 47024326 + missense_variant Missense_Mutation SNP C A NCIH1573_LUNG ENST00000371946.4:c.1319G>T p.Cys440Phe p.C440F ENST00000371946 NM_003684.5 440 tGc/tTc 14/14 SUCCESS | |
| MKNK1 8569 GRCh37 1 47037172 47037172 + missense_variant Missense_Mutation SNP G A rs977377697 SNGM_ENDOMETRIUM ENST00000371946.4:c.533C>T p.Ala178Val p.A178V ENST00000371946 NM_003684.5 178 gCg/gTg 8/14 SUCCESS | |
| MKNK1 8569 GRCh37 1 47040533 47040533 + intron_variant Intron SNP G A rs761382598 BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000371946.4:c.388+86C>T p.*130* ENST00000371946 NM_003684.5 SUCCESS | |
| MKNK1 8569 GRCh37 1 47040539 47040539 + intron_variant Intron SNP G C NCIH1734_LUNG ENST00000371946.4:c.388+80C>G p.*130* ENST00000371946 NM_003684.5 SUCCESS | |
| MKNK1 8569 GRCh37 1 47040583 47040583 + intron_variant Intron SNP A C MDAMB435S_SKIN ENST00000371946.4:c.388+36T>G p.*130* ENST00000371946 NM_003684.5 SUCCESS | |
| MKNK1 8569 GRCh37 1 47040634 47040634 + missense_variant Missense_Mutation SNP C G MDAMB453_BREAST ENST00000371946.4:c.373G>C p.Glu125Gln p.E125Q ENST00000371946 NM_003684.5 125 Gag/Cag 6/14 SUCCESS | |
| MKNK1 8569 GRCh37 1 47040636 47040636 + missense_variant Missense_Mutation SNP A T HCC44_LUNG ENST00000371946.4:c.371T>A p.Phe124Tyr p.F124Y ENST00000371946 NM_003684.5 124 tTt/tAt 6/14 SUCCESS | |
| MKNK1 8569 GRCh37 1 47040641 47040641 + missense_variant Missense_Mutation SNP C A HT55_LARGE_INTESTINE ENST00000371946.4:c.366G>T p.Leu122Phe p.L122F ENST00000371946 NM_003684.5 122 ttG/ttT 6/14 SUCCESS | |
| MKNK1 8569 GRCh37 1 47046207 47046207 + missense_variant Missense_Mutation SNP C T rs760939517 EFO27_OVARY ENST00000371946.4:c.229G>A p.Val77Ile p.V77I ENST00000371946 NM_003684.5 77 Gtc/Atc 4/14 SUCCESS | |
| MKNK1 8569 GRCh37 1 47048941 47048941 + missense_variant Missense_Mutation SNP C T rs200310287 BHY_UPPER_AERODIGESTIVE_TRACT ENST00000371946.4:c.95G>A p.Arg32Gln p.R32Q ENST00000371946 NM_003684.5 32 cGg/cAg 3/14 SUCCESS | |
| MKNK1 8569 GRCh37 1 47048941 47048941 + missense_variant Missense_Mutation SNP C T rs200310287 KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000371946.4:c.95G>A p.Arg32Gln p.R32Q ENST00000371946 NM_003684.5 32 cGg/cAg 3/14 SUCCESS | |
| MKNK1 8569 GRCh37 1 47059883 47059883 + 5_prime_UTR_variant 5'UTR SNP C A NCIH2342_LUNG ENST00000371946.4:c.-65G>T p.*22* ENST00000371946 NM_003684.5 2/14 SUCCESS | |
| MKNK1 8569 GRCh37 1 47059883 47059883 + 5_prime_UTR_variant 5'UTR SNP C T rs770540608 PANC0813_PANCREAS ENST00000371946.4:c.-65G>A p.*22* ENST00000371946 NM_003684.5 2/14 SUCCESS | |
| MKNK1 8569 GRCh37 1 47059893 47059893 + 5_prime_UTR_variant 5'UTR SNP C G BT483_BREAST ENST00000371946.4:c.-75G>C p.*25* ENST00000371946 NM_003684.5 2/14 SUCCESS | |
| TAL1 6886 GRCh37 1 47685532 47685532 + missense_variant Missense_Mutation SNP A C NCIH841_LUNG ENST00000294339.3:c.856T>G p.Ser286Ala p.S286A ENST00000294339 NM_003189.2 286 Tcc/Gcc 4/4 SUCCESS | |
| TAL1 6886 GRCh37 1 47685559 47685559 + missense_variant Missense_Mutation SNP G A rs776499780 QGP1_PANCREAS ENST00000294339.3:c.829C>T p.Pro277Ser p.P277S ENST00000294339 NM_003189.2 277 Cca/Tca 4/4 SUCCESS | |
| TAL1 6886 GRCh37 1 47685582 47685582 + missense_variant Missense_Mutation SNP C T OE21_OESOPHAGUS ENST00000294339.3:c.806G>A p.Gly269Asp p.G269D ENST00000294339 NM_003189.2 269 gGt/gAt 4/4 SUCCESS | |
| TAL1 6886 GRCh37 1 47685638 47685638 + synonymous_variant Silent SNP G A HEC59_ENDOMETRIUM ENST00000294339.3:c.750C>T p.Gly250= p.G250= ENST00000294339 NM_003189.2 250 ggC/ggT 4/4 SUCCESS | |
| TAL1 6886 GRCh37 1 47685649 47685649 + missense_variant Missense_Mutation SNP C T rs761940297 MALME3M_SKIN ENST00000294339.3:c.739G>A p.Glu247Lys p.E247K ENST00000294339 NM_003189.2 247 Gag/Aag 4/4 SUCCESS | |
| TAL1 6886 GRCh37 1 47685701 47685701 + synonymous_variant Silent SNP G T KMBC2_URINARY_TRACT ENST00000294339.3:c.687C>A p.Leu229= p.L229= ENST00000294339 NM_003189.2 229 ctC/ctA 4/4 SUCCESS | |
| TAL1 6886 GRCh37 1 47685767 47685767 + synonymous_variant Silent SNP A G RKO_LARGE_INTESTINE ENST00000294339.3:c.621T>C p.Phe207= p.F207= ENST00000294339 NM_003189.2 207 ttT/ttC 4/4 SUCCESS | |
| TAL1 6886 GRCh37 1 47685776 47685777 + frameshift_variant Frame_Shift_Ins INS - T 22RV1_PROSTATE ENST00000294339.3:c.611dup p.Asn204LysfsTer24 p.N204Kfs*24 ENST00000294339 NM_003189.2 204 aac/aaAc 4/4 SUCCESS | |
| TAL1 6886 GRCh37 1 47685805 47685805 + missense_variant Missense_Mutation SNP G A WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000294339.3:c.583C>T p.Arg195Trp p.R195W ENST00000294339 NM_003189.2 195 Cgg/Tgg 4/4 SUCCESS | |
| TAL1 6886 GRCh37 1 47685839 47685839 + missense_variant Missense_Mutation SNP G C NCIH650_LUNG ENST00000294339.3:c.549C>G p.His183Gln p.H183Q ENST00000294339 NM_003189.2 183 caC/caG 4/4 SUCCESS | |
| 1 47689726 47689726 T T HS934T_SKIN FAILED | |
| STIL 6491 GRCh37 1 47716647 47716647 + 3_prime_UTR_variant 3'UTR SNP T C rs191737587 NCIH1648_LUNG ENST00000360380.3:c.*161A>G ENST00000360380 NM_001282936.1 18/18 SUCCESS | |
| STIL 6491 GRCh37 1 47716793 47716793 + 3_prime_UTR_variant 3'UTR SNP C A HCC2279_LUNG ENST00000360380.3:c.*15G>T ENST00000360380 NM_001282936.1 18/18 SUCCESS | |
| STIL 6491 GRCh37 1 47716817 47716817 + missense_variant Missense_Mutation SNP T A SNUC5_LARGE_INTESTINE ENST00000360380.3:c.3855A>T p.Lys1285Asn p.K1285N ENST00000360380 NM_001282936.1 1285 aaA/aaT 18/18 SUCCESS | |
| STIL 6491 GRCh37 1 47716946 47716946 + missense_variant Missense_Mutation SNP C A SNU81_LARGE_INTESTINE ENST00000360380.3:c.3726G>T p.Glu1242Asp p.E1242D ENST00000360380 NM_001282936.1 1242 gaG/gaT 18/18 SUCCESS | |
| STIL 6491 GRCh37 1 47716953 47716953 + missense_variant Missense_Mutation SNP T A TE4_OESOPHAGUS ENST00000360380.3:c.3719A>T p.His1240Leu p.H1240L ENST00000360380 NM_001282936.1 1240 cAt/cTt 18/18 SUCCESS | |
| STIL 6491 GRCh37 1 47716969 47716969 + missense_variant Missense_Mutation SNP C G CMK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000360380.3:c.3703G>C p.Ala1235Pro p.A1235P ENST00000360380 NM_001282936.1 1235 Gca/Cca 18/18 SUCCESS | |
| STIL 6491 GRCh37 1 47717077 47717077 + missense_variant Missense_Mutation SNP T C rs200980713 OCILY3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000360380.3:c.3595A>G p.Thr1199Ala p.T1199A ENST00000360380 NM_001282936.1 1199 Aca/Gca 18/18 SUCCESS | |
| STIL 6491 GRCh37 1 47717112 47717112 + missense_variant Missense_Mutation SNP C A SBC5_LUNG ENST00000360380.3:c.3560G>T p.Gly1187Val p.G1187V ENST00000360380 NM_001282936.1 1187 gGg/gTg 18/18 SUCCESS | |
| STIL 6491 GRCh37 1 47717139 47717139 + missense_variant Missense_Mutation SNP A C HEC251_ENDOMETRIUM ENST00000360380.3:c.3533T>G p.Ile1178Ser p.I1178S ENST00000360380 NM_001282936.1 1178 aTt/aGt 18/18 SUCCESS | |
| STIL 6491 GRCh37 1 47717303 47717303 + missense_variant Missense_Mutation SNP C A JHUEM7_ENDOMETRIUM ENST00000360380.3:c.3369G>T p.Met1123Ile p.M1123I ENST00000360380 NM_001282936.1 1123 atG/atT 18/18 SUCCESS | |
| 1 47717309 47717309 T T HCT116_LARGE_INTESTINE FAILED | |
| STIL 6491 GRCh37 1 47717386 47717386 + missense_variant Missense_Mutation SNP G A CAPAN1_PANCREAS ENST00000360380.3:c.3286C>T p.Leu1096Phe p.L1096F ENST00000360380 NM_001282936.1 1096 Ctc/Ttc 18/18 SUCCESS | |
| STIL 6491 GRCh37 1 47717418 47717418 + missense_variant Missense_Mutation SNP G C NCIH1355_LUNG ENST00000360380.3:c.3254C>G p.Ser1085Trp p.S1085W ENST00000360380 NM_001282936.1 1085 tCg/tGg 18/18 SUCCESS | |
| STIL 6491 GRCh37 1 47717427 47717427 + missense_variant Missense_Mutation SNP A G rs766160562 OVK18_OVARY ENST00000360380.3:c.3245T>C p.Val1082Ala p.V1082A ENST00000360380 NM_001282936.1 1082 gTc/gCc 18/18 SUCCESS | |
| STIL 6491 GRCh37 1 47717469 47717469 + missense_variant Missense_Mutation SNP G C SH10TC_STOMACH ENST00000360380.3:c.3203C>G p.Ala1068Gly p.A1068G ENST00000360380 NM_001282936.1 1068 gCt/gGt 18/18 SUCCESS | |
| STIL 6491 GRCh37 1 47725971 47725971 + missense_variant Missense_Mutation SNP C G KMBC2_URINARY_TRACT ENST00000360380.3:c.3067G>C p.Asp1023His p.D1023H ENST00000360380 NM_001282936.1 1023 Gat/Cat 17/18 SUCCESS | |
| STIL 6491 GRCh37 1 47725980 47725980 + missense_variant Missense_Mutation SNP G A rs199558457 MKN74_STOMACH ENST00000360380.3:c.3058C>T p.His1020Tyr p.H1020Y ENST00000360380 NM_001282936.1 1020 Cat/Tat 17/18 SUCCESS | |
| STIL 6491 GRCh37 1 47728639 47728639 + missense_variant Missense_Mutation SNP T C HCC1569_BREAST ENST00000360380.3:c.2762A>G p.Glu921Gly p.E921G ENST00000360380 NM_001282936.1 921 gAg/gGg 16/18 SUCCESS | |
| 1 47728681 47728681 C C SNUC2A_LARGE_INTESTINE FAILED | |
| STIL 6491 GRCh37 1 47735314 47735314 + missense_variant Missense_Mutation SNP C G REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000360380.3:c.2608G>C p.Val870Leu p.V870L ENST00000360380 NM_001282936.1 870 Gta/Cta 15/18 SUCCESS | |
| STIL 6491 GRCh37 1 47735370 47735370 + missense_variant Missense_Mutation SNP G A KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000360380.3:c.2552C>T p.Pro851Leu p.P851L ENST00000360380 NM_001282936.1 851 cCc/cTc 15/18 SUCCESS | |
| STIL 6491 GRCh37 1 47735466 47735466 + missense_variant Missense_Mutation SNP T C rs142290334 LS411N_LARGE_INTESTINE ENST00000360380.3:c.2456A>G p.Lys819Arg p.K819R ENST00000360380 NM_001282936.1 819 aAa/aGa 15/18 SUCCESS | |
| STIL 6491 GRCh37 1 47735517 47735517 + missense_variant Missense_Mutation SNP G T MINO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000360380.3:c.2405C>A p.Ala802Glu p.A802E ENST00000360380 NM_001282936.1 802 gCa/gAa 15/18 SUCCESS | |
| STIL 6491 GRCh37 1 47737774 47737774 + missense_variant Missense_Mutation SNP T C rs147955048 LS180_LARGE_INTESTINE ENST00000360380.3:c.2357A>G p.Lys786Arg p.K786R ENST00000360380 NM_001282936.1 786 aAa/aGa 14/18 SUCCESS | |
| STIL 6491 GRCh37 1 47737895 47737895 + missense_variant Missense_Mutation SNP C T SNGM_ENDOMETRIUM ENST00000360380.3:c.2236G>A p.Ala746Thr p.A746T ENST00000360380 NM_001282936.1 746 Gca/Aca 14/18 SUCCESS | |
| STIL 6491 GRCh37 1 47746016 47746016 + missense_variant Missense_Mutation SNP T C SNUC5_LARGE_INTESTINE ENST00000360380.3:c.2114A>G p.His705Arg p.H705R ENST00000360380 NM_001282936.1 705 cAc/cGc 13/18 SUCCESS | |
| STIL 6491 GRCh37 1 47746083 47746083 + missense_variant Missense_Mutation SNP A G HEC6_ENDOMETRIUM ENST00000360380.3:c.2047T>C p.Ser683Pro p.S683P ENST00000360380 NM_001282936.1 683 Tcg/Ccg 13/18 SUCCESS | |
| STIL 6491 GRCh37 1 47746157 47746157 + missense_variant Missense_Mutation SNP G T JHUEM7_ENDOMETRIUM ENST00000360380.3:c.1973C>A p.Ser658Tyr p.S658Y ENST00000360380 NM_001282936.1 658 tCt/tAt 13/18 SUCCESS | |
| STIL 6491 GRCh37 1 47746334 47746334 + missense_variant Missense_Mutation SNP G A HEC6_ENDOMETRIUM ENST00000360380.3:c.1796C>T p.Ser599Phe p.S599F ENST00000360380 NM_001282936.1 599 tCc/tTc 13/18 SUCCESS | |
| STIL 6491 GRCh37 1 47746374 47746374 + missense_variant Missense_Mutation SNP C T SW48_LARGE_INTESTINE ENST00000360380.3:c.1756G>A p.Glu586Lys p.E586K ENST00000360380 NM_001282936.1 586 Gaa/Aaa 13/18 SUCCESS | |
| STIL 6491 GRCh37 1 47746457 47746457 + missense_variant Missense_Mutation SNP A G HCT15_LARGE_INTESTINE ENST00000360380.3:c.1673T>C p.Leu558Pro p.L558P ENST00000360380 NM_001282936.1 558 cTt/cCt 13/18 SUCCESS | |
| STIL 6491 GRCh37 1 47746502 47746502 + missense_variant Missense_Mutation SNP G A rs746094772 CAL51_BREAST ENST00000360380.3:c.1628C>T p.Ala543Val p.A543V ENST00000360380 NM_001282936.1 543 gCt/gTt 13/18 SUCCESS | |
| STIL 6491 GRCh37 1 47746767 47746767 + missense_variant Missense_Mutation SNP A C rs545798346 CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000360380.3:c.1363T>G p.Leu455Val p.L455V ENST00000360380 NM_001282936.1 455 Ttg/Gtg 13/18 SUCCESS | |
| STIL 6491 GRCh37 1 47748125 47748125 + synonymous_variant Silent SNP G A rs183263043 SNU899_UPPER_AERODIGESTIVE_TRACT ENST00000360380.3:c.1140C>T p.Ser380= p.S380= ENST00000360380 NM_001282936.1 380 tcC/tcT 12/18 SUCCESS | |
| STIL 6491 GRCh37 1 47748152 47748152 + intron_variant Intron SNP C G rs187106603 SNU520_STOMACH ENST00000360380.3:c.1134-21G>C p.*378* ENST00000360380 NM_001282936.1 SUCCESS | |
| STIL 6491 GRCh37 1 47748185 47748185 + intron_variant Intron SNP T C SNU449_LIVER ENST00000360380.3:c.1134-54A>G p.*378* ENST00000360380 NM_001282936.1 SUCCESS | |
| STIL 6491 GRCh37 1 47753240 47753240 + missense_variant Missense_Mutation SNP C A rs1265612895 JHUEM7_ENDOMETRIUM ENST00000360380.3:c.1116G>T p.Lys372Asn p.K372N ENST00000360380 NM_001282936.1 372 aaG/aaT 11/18 SUCCESS | |
| STIL 6491 GRCh37 1 47753248 47753248 + missense_variant Missense_Mutation SNP C A HEC108_ENDOMETRIUM ENST00000360380.3:c.1108G>T p.Ala370Ser p.A370S ENST00000360380 NM_001282936.1 370 Gct/Tct 11/18 SUCCESS | |
| STIL 6491 GRCh37 1 47753255 47753255 + missense_variant Missense_Mutation SNP G T TE9_OESOPHAGUS ENST00000360380.3:c.1101C>A p.Phe367Leu p.F367L ENST00000360380 NM_001282936.1 367 ttC/ttA 11/18 SUCCESS | |
| STIL 6491 GRCh37 1 47753284 47753284 + missense_variant Missense_Mutation SNP C T LP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000360380.3:c.1072G>A p.Glu358Lys p.E358K ENST00000360380 NM_001282936.1 358 Gaa/Aaa 11/18 SUCCESS | |
| STIL 6491 GRCh37 1 47755110 47755110 + missense_variant Missense_Mutation SNP G T NCIH358_LUNG ENST00000360380.3:c.1020C>A p.Phe340Leu p.F340L ENST00000360380 NM_001282936.1 340 ttC/ttA 10/18 SUCCESS | |
| STIL 6491 GRCh37 1 47755115 47755115 + missense_variant Missense_Mutation SNP G C KMBC2_URINARY_TRACT ENST00000360380.3:c.1015C>G p.Leu339Val p.L339V ENST00000360380 NM_001282936.1 339 Ctt/Gtt 10/18 SUCCESS | |
| STIL 6491 GRCh37 1 47755204 47755204 + missense_variant Missense_Mutation SNP T G JJN3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000360380.3:c.926A>C p.Lys309Thr p.K309T ENST00000360380 NM_001282936.1 309 aAg/aCg 10/18 SUCCESS | |
| STIL 6491 GRCh37 1 47759173 47759173 + missense_variant Missense_Mutation SNP C T rs776118379 HCT15_LARGE_INTESTINE ENST00000360380.3:c.829G>A p.Ala277Thr p.A277T ENST00000360380 NM_001282936.1 277 Gct/Act 9/18 SUCCESS | |
| STIL 6491 GRCh37 1 47759218 47759218 + splice_acceptor_variant Splice_Site SNP T A rs763975257 AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000360380.3:c.786-2A>T p.X262_splice ENST00000360380 NM_001282936.1 262 SUCCESS | |
| STIL 6491 GRCh37 1 47759218 47759218 + splice_acceptor_variant Splice_Site SNP T A rs763975257 HUPT3_PANCREAS ENST00000360380.3:c.786-2A>T p.X262_splice ENST00000360380 NM_001282936.1 262 SUCCESS | |
| STIL 6491 GRCh37 1 47767907 47767907 + missense_variant,splice_region_variant Missense_Mutation SNP T A 647V_URINARY_TRACT ENST00000360380.3:c.264A>T p.Glu88Asp p.E88D ENST00000360380 NM_001282936.1 88 gaA/gaT 5/18 SUCCESS | |
| STIL 6491 GRCh37 1 47767971 47767971 + missense_variant Missense_Mutation SNP C T rs373640812 HUPT4_PANCREAS ENST00000360380.3:c.200G>A p.Arg67His p.R67H ENST00000360380 NM_001282936.1 67 cGt/cAt 5/18 SUCCESS | |
| STIL 6491 GRCh37 1 47770571 47770572 + frameshift_variant Frame_Shift_Ins INS - GA HEC1A_ENDOMETRIUM ENST00000360380.3:c.140_141dup p.Tyr49ValfsTer10 p.Y49Vfs*10 ENST00000360380 NM_001282936.1 47 -/TC 4/18 SUCCESS | |
| STIL 6491 GRCh37 1 47775989 47775989 + start_lost Translation_Start_Site SNP C T OCILY3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000360380.3:c.3G>A p.Met1? p.M1? ENST00000360380 NM_001282936.1 1 atG/atA 3/18 SUCCESS | |
| STIL 6491 GRCh37 1 47776013 47776013 + 5_prime_UTR_variant 5'UTR SNP T C rs373165246 HCC4006_LUNG ENST00000360380.3:c.-22A>G p.*8* ENST00000360380 NM_001282936.1 3/18 SUCCESS | |
| CDKN2C 1031 GRCh37 1 51435783 51435783 + intron_variant Intron SNP T C rs3176454 SNU81_LARGE_INTESTINE ENST00000262662.1:c.-12+212T>C p.*4* ENST00000262662 SUCCESS | |
| CDKN2C 1031 GRCh37 1 51435891 51435891 + intron_variant Intron SNP T C rs1645372091 HEC108_ENDOMETRIUM ENST00000262662.1:c.-11-139T>C p.*4* ENST00000262662 SUCCESS | |
| CDKN2C 1031 GRCh37 1 51435945 51435945 + intron_variant Intron SNP T C BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000262662.1:c.-11-85T>C p.*4* ENST00000262662 SUCCESS | |
| CDKN2C 1031 GRCh37 1 51435977 51435977 + intron_variant Intron SNP C T rs139867286 NCIH1581_LUNG ENST00000262662.1:c.-11-53C>T p.*4* ENST00000262662 SUCCESS | |
| CDKN2C 1031 GRCh37 1 51435977 51435977 + intron_variant Intron SNP C T rs139867286 SKMEL28_SKIN ENST00000262662.1:c.-11-53C>T p.*4* ENST00000262662 SUCCESS | |
| CDKN2C 1031 GRCh37 1 51435980 51435980 + intron_variant Intron SNP A G HEC59_ENDOMETRIUM ENST00000262662.1:c.-11-50A>G p.*4* ENST00000262662 SUCCESS | |
| 1 51435990 51435990 A A 22RV1_PROSTATE FAILED | |
| CDKN2C 1031 GRCh37 1 51436000 51436000 + intron_variant Intron SNP A G rs772460653 HARA_LUNG ENST00000262662.1:c.-11-30A>G p.*4* ENST00000262662 SUCCESS | |
| CDKN2C 1031 GRCh37 1 51436013 51436013 + intron_variant Intron SNP C A rs1188274704 MDAMB468_BREAST ENST00000262662.1:c.-11-17C>A p.*4* ENST00000262662 SUCCESS | |
| CDKN2C 1031 GRCh37 1 51436020 51436020 + intron_variant Intron SNP T C rs774945900 BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000262662.1:c.-11-10T>C p.*4* ENST00000262662 SUCCESS | |
| CDKN2C 1031 GRCh37 1 51436083 51436084 + frameshift_variant Frame_Shift_Ins INS - G EN_ENDOMETRIUM ENST00000262662.1:c.49dup p.Asp17GlyfsTer7 p.D17Gfs*7 ENST00000262662 15 agg/aGgg 3/4 SUCCESS | |
| CDKN2C 1031 GRCh37 1 51436097 51436097 + missense_variant Missense_Mutation SNP G T IGROV1_OVARY ENST00000262662.1:c.57G>T p.Glu19Asp p.E19D ENST00000262662 19 gaG/gaT 3/4 SUCCESS | |
| 1 51436102 51436103 TT TT KMS12BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| CDKN2C 1031 GRCh37 1 51436170 51436170 + splice_donor_variant Splice_Site SNP G T SNU201_CENTRAL_NERVOUS_SYSTEM ENST00000262662.1:c.129+1G>T p.X43_splice ENST00000262662 43 SUCCESS | |
| CDKN2C 1031 GRCh37 1 51439617 51439617 + missense_variant Missense_Mutation SNP C T 5637_URINARY_TRACT ENST00000262662.1:c.182C>T p.Ala61Val p.A61V ENST00000262662 61 gCt/gTt 4/4 SUCCESS | |
| CDKN2C 1031 GRCh37 1 51439617 51439617 + missense_variant Missense_Mutation SNP C A KNS60_CENTRAL_NERVOUS_SYSTEM ENST00000262662.1:c.182C>A p.Ala61Asp p.A61D ENST00000262662 61 gCt/gAt 4/4 SUCCESS | |
| CDKN2C 1031 GRCh37 1 51439636 51439636 + missense_variant Missense_Mutation SNP C A SNU475_LIVER ENST00000262662.1:c.201C>A p.Asp67Glu p.D67E ENST00000262662 67 gaC/gaA 4/4 SUCCESS | |
| CDKN2C 1031 GRCh37 1 51439649 51439649 + missense_variant Missense_Mutation SNP G C rs771853517 BT20_BREAST ENST00000262662.1:c.214G>C p.Ala72Pro p.A72P ENST00000262662 72 Gct/Cct 4/4 SUCCESS | |
| CDKN2C 1031 GRCh37 1 51439754 51439754 + missense_variant Missense_Mutation SNP T G rs199638281 SH4_SKIN ENST00000262662.1:c.319T>G p.Leu107Val p.L107V ENST00000262662 107 Ttg/Gtg 4/4 SUCCESS | |
| CDKN2C 1031 GRCh37 1 51439767 51439767 + missense_variant Missense_Mutation SNP C T HEC108_ENDOMETRIUM ENST00000262662.1:c.332C>T p.Ala111Val p.A111V ENST00000262662 111 gCc/gTc 4/4 SUCCESS | |
| CDKN2C 1031 GRCh37 1 51439824 51439824 + missense_variant Missense_Mutation SNP T C rs375985277 MHHNB11_AUTONOMIC_GANGLIA ENST00000262662.1:c.389T>C p.Val130Ala p.V130A ENST00000262662 130 gTg/gCg 4/4 SUCCESS | |
| CDKN2C 1031 GRCh37 1 51439905 51439905 + missense_variant Missense_Mutation SNP A C KALS1_CENTRAL_NERVOUS_SYSTEM ENST00000262662.1:c.470A>C p.Gln157Pro p.Q157P ENST00000262662 157 cAg/cCg 4/4 SUCCESS | |
| CDKN2C 1031 GRCh37 1 51439944 51439944 + 3_prime_UTR_variant 3'UTR SNP C T rs745533110 NCIH1975_LUNG ENST00000262662.1:c.*2C>T ENST00000262662 4/4 SUCCESS | |
| CDKN2C 1031 GRCh37 1 51439954 51439954 + 3_prime_UTR_variant 3'UTR SNP G T CADOES1_BONE ENST00000262662.1:c.*12G>T ENST00000262662 4/4 SUCCESS | |
| CDKN2C 1031 GRCh37 1 51439982 51439982 + 3_prime_UTR_variant 3'UTR SNP A G rs1448146903 SNU761_LIVER ENST00000262662.1:c.*40A>G ENST00000262662 4/4 SUCCESS | |
| CDKN2C 1031 GRCh37 1 51440060 51440060 + 3_prime_UTR_variant 3'UTR SNP C T SNU1040_LARGE_INTESTINE ENST00000262662.1:c.*118C>T ENST00000262662 4/4 SUCCESS | |
| CDKN2C 1031 GRCh37 1 51440157 51440157 + 3_prime_UTR_variant 3'UTR SNP A G LMSU_STOMACH ENST00000262662.1:c.*215A>G ENST00000262662 4/4 SUCCESS | |
| CDKN2C 1031 GRCh37 1 51440223 51440223 + 3_prime_UTR_variant 3'UTR SNP A G rs2147958946 SNU216_STOMACH ENST00000262662.1:c.*281A>G ENST00000262662 4/4 SUCCESS | |
| EPS15 2060 GRCh37 1 51822176 51822176 + 3_prime_UTR_variant 3'UTR SNP C T rs1394923098 LOVO_LARGE_INTESTINE ENST00000371733.3:c.*196G>A ENST00000371733 NM_001981.2 25/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51822188 51822189 + 3_prime_UTR_variant 3'UTR INS - A rs878936060 LOXIMVI_SKIN ENST00000371733.3:c.*183_*184insT ENST00000371733 NM_001981.2 25/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51822188 51822189 + 3_prime_UTR_variant 3'UTR INS - A rs878936060 SNU182_LIVER ENST00000371733.3:c.*183_*184insT ENST00000371733 NM_001981.2 25/25 SUCCESS | |
| 1 51822189 51822189 A A A2780_OVARY FAILED | |
| 1 51822189 51822189 A A BV173_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 51822189 51822189 A A HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 51822189 51822189 A A JHUEM2_ENDOMETRIUM FAILED | |
| 1 51822189 51822189 A A KMS12BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 51822189 51822189 A A LOUNH91_LUNG FAILED | |
| 1 51822189 51822189 A A NCIH2444_LUNG FAILED | |
| 1 51822189 51822189 A A NCIH3255_LUNG FAILED | |
| 1 51822189 51822189 A A SNU8_OVARY FAILED | |
| 1 51822189 51822189 A A SW1573_LUNG FAILED | |
| 1 51822189 51822191 AAA AAA CCK81_LARGE_INTESTINE FAILED | |
| 1 51822189 51822191 AAA AAA IM95_STOMACH FAILED | |
| EPS15 2060 GRCh37 1 51822205 51822205 + 3_prime_UTR_variant 3'UTR SNP G A rs1468442173 HCC366_LUNG ENST00000371733.3:c.*167C>T ENST00000371733 NM_001981.2 25/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51822219 51822220 + 3_prime_UTR_variant 3'UTR INS - A rs111272942 A253_SALIVARY_GLAND ENST00000371733.3:c.*152_*153insT ENST00000371733 NM_001981.2 25/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51822219 51822220 + 3_prime_UTR_variant 3'UTR INS - A rs111272942 CAOV4_OVARY ENST00000371733.3:c.*152_*153insT ENST00000371733 NM_001981.2 25/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51822219 51822220 + 3_prime_UTR_variant 3'UTR INS - A rs111272942 EOL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000371733.3:c.*152_*153insT ENST00000371733 NM_001981.2 25/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51822219 51822220 + 3_prime_UTR_variant 3'UTR INS - A rs111272942 HCC1395_BREAST ENST00000371733.3:c.*152_*153insT ENST00000371733 NM_001981.2 25/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51822219 51822220 + 3_prime_UTR_variant 3'UTR INS - A rs111272942 ISTMES1_PLEURA ENST00000371733.3:c.*152_*153insT ENST00000371733 NM_001981.2 25/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51822219 51822220 + 3_prime_UTR_variant 3'UTR INS - A rs111272942 JHH5_LIVER ENST00000371733.3:c.*152_*153insT ENST00000371733 NM_001981.2 25/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51822219 51822220 + 3_prime_UTR_variant 3'UTR INS - A rs111272942 MG63_BONE ENST00000371733.3:c.*152_*153insT ENST00000371733 NM_001981.2 25/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51822219 51822220 + 3_prime_UTR_variant 3'UTR INS - A rs111272942 MHHCALL3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000371733.3:c.*152_*153insT ENST00000371733 NM_001981.2 25/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51822219 51822220 + 3_prime_UTR_variant 3'UTR INS - A rs111272942 NCIH1648_LUNG ENST00000371733.3:c.*152_*153insT ENST00000371733 NM_001981.2 25/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51822219 51822220 + 3_prime_UTR_variant 3'UTR INS - A rs111272942 SKMEL24_SKIN ENST00000371733.3:c.*152_*153insT ENST00000371733 NM_001981.2 25/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51822219 51822220 + 3_prime_UTR_variant 3'UTR INS - A rs111272942 SNU1105_CENTRAL_NERVOUS_SYSTEM ENST00000371733.3:c.*152_*153insT ENST00000371733 NM_001981.2 25/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51822219 51822220 + 3_prime_UTR_variant 3'UTR INS - A rs111272942 SNU308_BILIARY_TRACT ENST00000371733.3:c.*152_*153insT ENST00000371733 NM_001981.2 25/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51822219 51822220 + 3_prime_UTR_variant 3'UTR INS - A rs111272942 SNU719_STOMACH ENST00000371733.3:c.*152_*153insT ENST00000371733 NM_001981.2 25/25 SUCCESS | |
| 1 51822220 51822220 A A 786O_KIDNEY FAILED | |
| 1 51822220 51822220 A A A2780_OVARY FAILED | |
| 1 51822220 51822220 A A BT20_BREAST FAILED | |
| 1 51822220 51822220 A A CAL54_KIDNEY FAILED | |
| 1 51822220 51822220 A A CCK81_LARGE_INTESTINE FAILED | |
| 1 51822220 51822220 A A CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 51822220 51822220 A A DOHH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 51822220 51822220 A A HCC1419_BREAST FAILED | |
| 1 51822220 51822220 A A HCC78_LUNG FAILED | |
| 1 51822220 51822220 A A HCC827_LUNG FAILED | |
| 1 51822220 51822220 A A HEPG2_LIVER FAILED | |
| 1 51822220 51822220 A A HS698T_LARGE_INTESTINE FAILED | |
| 1 51822220 51822220 A A JHUEM2_ENDOMETRIUM FAILED | |
| 1 51822220 51822220 A A KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 51822220 51822220 A A KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 51822220 51822220 A A KM12_LARGE_INTESTINE FAILED | |
| 1 51822220 51822220 A A MFE296_ENDOMETRIUM FAILED | |
| 1 51822220 51822220 A A NCIH1048_LUNG FAILED | |
| 1 51822220 51822220 A A NCIH1694_LUNG FAILED | |
| 1 51822220 51822220 A A NCIH2066_LUNG FAILED | |
| 1 51822220 51822220 A A NCIH522_LUNG FAILED | |
| 1 51822220 51822220 A A NCIH716_LARGE_INTESTINE FAILED | |
| 1 51822220 51822220 A A NCIH810_LUNG FAILED | |
| 1 51822220 51822220 A A OCUM1_STOMACH FAILED | |
| 1 51822220 51822220 A A OVK18_OVARY FAILED | |
| 1 51822220 51822220 A A OVMANA_OVARY FAILED | |
| 1 51822220 51822220 A A P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 51822220 51822220 A A SNU175_LARGE_INTESTINE FAILED | |
| 1 51822220 51822220 A A SNU324_PANCREAS FAILED | |
| 1 51822220 51822220 A A SNU349_KIDNEY FAILED | |
| 1 51822220 51822220 A A SW780_URINARY_TRACT FAILED | |
| 1 51822220 51822221 AA AA HEC108_ENDOMETRIUM FAILED | |
| 1 51822220 51822221 AA AA LOVO_LARGE_INTESTINE FAILED | |
| 1 51822220 51822221 AA AA LS180_LARGE_INTESTINE FAILED | |
| 1 51822220 51822221 AA AA SNU1040_LARGE_INTESTINE FAILED | |
| 1 51822220 51822221 AA AA SNU520_STOMACH FAILED | |
| EPS15 2060 GRCh37 1 51822335 51822335 + 3_prime_UTR_variant 3'UTR SNP A C SNU1040_LARGE_INTESTINE ENST00000371733.3:c.*37T>G ENST00000371733 NM_001981.2 25/25 SUCCESS | |
| 1 51822362 51822363 AG AG MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 51822362 51822363 AG AG RS5_PLEURA FAILED | |
| EPS15 2060 GRCh37 1 51822369 51822369 + 3_prime_UTR_variant 3'UTR SNP T G OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000371733.3:c.*3A>C ENST00000371733 NM_001981.2 25/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51822518 51822518 + missense_variant,splice_region_variant Missense_Mutation SNP A G DV90_LUNG ENST00000371733.3:c.2545T>C p.Tyr849His p.Y849H ENST00000371733 NM_001981.2 849 Tat/Cat 25/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51826939 51826939 + missense_variant Missense_Mutation SNP T G MFE319_ENDOMETRIUM ENST00000371733.3:c.2448A>C p.Lys816Asn p.K816N ENST00000371733 NM_001981.2 816 aaA/aaC 24/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51829601 51829601 + missense_variant Missense_Mutation SNP C T rs759321260 DMS273_LUNG ENST00000371733.3:c.2296G>A p.Asp766Asn p.D766N ENST00000371733 NM_001981.2 766 Gat/Aat 23/25 SUCCESS | |
| 1 51829633 51829633 T T MFE319_ENDOMETRIUM FAILED | |
| EPS15 2060 GRCh37 1 51860059 51860059 + missense_variant Missense_Mutation SNP C T rs183838419 EN_ENDOMETRIUM ENST00000371733.3:c.2113G>A p.Asp705Asn p.D705N ENST00000371733 NM_001981.2 705 Gat/Aat 21/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51860059 51860059 + missense_variant Missense_Mutation SNP C T rs183838419 KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000371733.3:c.2113G>A p.Asp705Asn p.D705N ENST00000371733 NM_001981.2 705 Gat/Aat 21/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51860059 51860059 + missense_variant Missense_Mutation SNP C T rs183838419 SNU869_BILIARY_TRACT ENST00000371733.3:c.2113G>A p.Asp705Asn p.D705N ENST00000371733 NM_001981.2 705 Gat/Aat 21/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51860112 51860112 + missense_variant Missense_Mutation SNP G A rs145211070 T173_BONE ENST00000371733.3:c.2060C>T p.Thr687Met p.T687M ENST00000371733 NM_001981.2 687 aCg/aTg 21/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51868122 51868122 + missense_variant Missense_Mutation SNP C T HEC6_ENDOMETRIUM ENST00000371733.3:c.1867G>A p.Asp623Asn p.D623N ENST00000371733 NM_001981.2 623 Gat/Aat 18/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51871683 51871683 + missense_variant Missense_Mutation SNP G A rs769489540 DMS153_LUNG ENST00000371733.3:c.1571C>T p.Thr524Ile p.T524I ENST00000371733 NM_001981.2 524 aCa/aTa 16/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51871689 51871689 + missense_variant Missense_Mutation SNP C T BT474_BREAST ENST00000371733.3:c.1565G>A p.Gly522Glu p.G522E ENST00000371733 NM_001981.2 522 gGa/gAa 16/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51873898 51873898 + missense_variant Missense_Mutation SNP G T HCC1588_LUNG ENST00000371733.3:c.1382C>A p.Thr461Lys p.T461K ENST00000371733 NM_001981.2 461 aCa/aAa 15/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51873898 51873898 + missense_variant Missense_Mutation SNP G T LS513_LARGE_INTESTINE ENST00000371733.3:c.1382C>A p.Thr461Lys p.T461K ENST00000371733 NM_001981.2 461 aCa/aAa 15/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51873994 51873994 + missense_variant Missense_Mutation SNP A G rs200517268 HCT15_LARGE_INTESTINE ENST00000371733.3:c.1286T>C p.Leu429Pro p.L429P ENST00000371733 NM_001981.2 429 cTg/cCg 15/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51875214 51875214 + missense_variant Missense_Mutation SNP G C CW2_LARGE_INTESTINE ENST00000371733.3:c.1268C>G p.Ala423Gly p.A423G ENST00000371733 NM_001981.2 423 gCc/gGc 14/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51875266 51875266 + missense_variant Missense_Mutation SNP C T HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000371733.3:c.1216G>A p.Ala406Thr p.A406T ENST00000371733 NM_001981.2 406 Gcc/Acc 14/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51887469 51887469 + missense_variant Missense_Mutation SNP T C SNU1040_LARGE_INTESTINE ENST00000371733.3:c.1102A>G p.Ser368Gly p.S368G ENST00000371733 NM_001981.2 368 Agt/Ggt 13/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51887524 51887524 + missense_variant Missense_Mutation SNP C A HEC251_ENDOMETRIUM ENST00000371733.3:c.1047G>T p.Lys349Asn p.K349N ENST00000371733 NM_001981.2 349 aaG/aaT 13/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51887589 51887589 + intron_variant Intron SNP T C BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000371733.3:c.1041-59A>G p.*347* ENST00000371733 NM_001981.2 SUCCESS | |
| EPS15 2060 GRCh37 1 51887614 51887614 + intron_variant Intron SNP G C NCIH2106_LUNG ENST00000371733.3:c.1041-84C>G p.*347* ENST00000371733 NM_001981.2 SUCCESS | |
| EPS15 2060 GRCh37 1 51887629 51887630 + intron_variant Intron DNP AG GT BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000371733.3:c.1041-100_1041-99delinsAC p.*347* ENST00000371733 NM_001981.2 SUCCESS | |
| EPS15 2060 GRCh37 1 51887651 51887651 + intron_variant Intron SNP T C rs768170556 RERFLCMS_LUNG ENST00000371733.3:c.1041-121A>G p.*347* ENST00000371733 NM_001981.2 SUCCESS | |
| EPS15 2060 GRCh37 1 51887678 51887678 + intron_variant Intron SNP C A BT474_BREAST ENST00000371733.3:c.1041-148G>T p.*347* ENST00000371733 NM_001981.2 SUCCESS | |
| 1 51887719 51887719 A A GCT_SOFT_TISSUE FAILED | |
| 1 51887719 51887719 A A LS411N_LARGE_INTESTINE FAILED | |
| 1 51887719 51887719 A A MFE319_ENDOMETRIUM FAILED | |
| 1 51887719 51887719 A A NALM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 51887719 51887719 A A SNU1_STOMACH FAILED | |
| 1 51887719 51887719 A A SW620_LARGE_INTESTINE FAILED | |
| 1 51887719 51887719 A A T47D_BREAST FAILED | |
| 1 51887719 51887719 A A ZR7530_BREAST FAILED | |
| EPS15 2060 GRCh37 1 51906097 51906097 + missense_variant Missense_Mutation SNP A G BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000371733.3:c.962T>C p.Ile321Thr p.I321T ENST00000371733 NM_001981.2 321 aTa/aCa 12/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51910709 51910709 + missense_variant Missense_Mutation SNP C T NCIH1694_LUNG ENST00000371733.3:c.806G>A p.Cys269Tyr p.C269Y ENST00000371733 NM_001981.2 269 tGc/tAc 11/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51912735 51912735 + missense_variant Missense_Mutation SNP A G rs1323063057 GP2D_LARGE_INTESTINE ENST00000371733.3:c.694T>C p.Phe232Leu p.F232L ENST00000371733 NM_001981.2 232 Ttc/Ctc 10/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51913747 51913747 + missense_variant Missense_Mutation SNP C A rs776439762 NCIH2172_LUNG ENST00000371733.3:c.622G>T p.Ala208Ser p.A208S ENST00000371733 NM_001981.2 208 Gcc/Tcc 9/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51926803 51926803 + missense_variant Missense_Mutation SNP A G rs749026326 CAL78_BONE ENST00000371733.3:c.521T>C p.Ile174Thr p.I174T ENST00000371733 NM_001981.2 174 aTt/aCt 8/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51929409 51929409 + missense_variant Missense_Mutation SNP A C SW480_LARGE_INTESTINE ENST00000371733.3:c.437T>G p.Leu146Arg p.L146R ENST00000371733 NM_001981.2 146 cTg/cGg 7/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51929462 51929462 + missense_variant Missense_Mutation SNP A T NCIH2286_LUNG ENST00000371733.3:c.384T>A p.Asp128Glu p.D128E ENST00000371733 NM_001981.2 128 gaT/gaA 7/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51934164 51934164 + missense_variant Missense_Mutation SNP G A HEC108_ENDOMETRIUM ENST00000371733.3:c.290C>T p.Ala97Val p.A97V ENST00000371733 NM_001981.2 97 gCt/gTt 5/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51934235 51934235 + missense_variant Missense_Mutation SNP G T HT115_LARGE_INTESTINE ENST00000371733.3:c.219C>A p.Phe73Leu p.F73L ENST00000371733 NM_001981.2 73 ttC/ttA 5/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51946949 51946949 + missense_variant Missense_Mutation SNP C G NCIH2342_LUNG ENST00000371733.3:c.71G>C p.Arg24Thr p.R24T ENST00000371733 NM_001981.2 24 aGa/aCa 2/25 SUCCESS | |
| EPS15 2060 GRCh37 1 51946962 51946962 + missense_variant Missense_Mutation SNP C G NCIH2342_LUNG ENST00000371733.3:c.58G>C p.Glu20Gln p.E20Q ENST00000371733 NM_001981.2 20 Gaa/Caa 2/25 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52698913 52698913 + missense_variant Missense_Mutation SNP T C MFE319_ENDOMETRIUM ENST00000287727.3:c.35T>C p.Leu12Pro p.L12P ENST00000287727 NM_004799.3 12 cTg/cCg 3/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52698945 52698945 + missense_variant Missense_Mutation SNP G A rs769555613 JHUEM7_ENDOMETRIUM ENST00000287727.3:c.67G>A p.Glu23Lys p.E23K ENST00000287727 NM_004799.3 23 Gaa/Aaa 3/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52703507 52703507 + missense_variant Missense_Mutation SNP G T CALU6_LUNG ENST00000287727.3:c.418G>T p.Ala140Ser p.A140S ENST00000287727 NM_004799.3 140 Gct/Tct 4/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52703658 52703658 + missense_variant Missense_Mutation SNP G T SNU175_LARGE_INTESTINE ENST00000287727.3:c.569G>T p.Arg190Ile p.R190I ENST00000287727 NM_004799.3 190 aGa/aTa 4/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52704147 52704147 + missense_variant Missense_Mutation SNP A G rs140384851 NCIH1568_LUNG ENST00000287727.3:c.1058A>G p.Asn353Ser p.N353S ENST00000287727 NM_004799.3 353 aAt/aGt 4/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52704290 52704290 + missense_variant Missense_Mutation SNP A G rs550767835 HUCCT1_BILIARY_TRACT ENST00000287727.3:c.1201A>G p.Asn401Asp p.N401D ENST00000287727 NM_004799.3 401 Aat/Gat 4/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52704290 52704290 + missense_variant Missense_Mutation SNP A G rs550767835 YD15_SALIVARY_GLAND ENST00000287727.3:c.1201A>G p.Asn401Asp p.N401D ENST00000287727 NM_004799.3 401 Aat/Gat 4/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52704415 52704415 + missense_variant Missense_Mutation SNP G T NCIH1651_LUNG ENST00000287727.3:c.1326G>T p.Leu442Phe p.L442F ENST00000287727 NM_004799.3 442 ttG/ttT 4/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52704492 52704492 + missense_variant Missense_Mutation SNP C T rs770244344 SNU1077_ENDOMETRIUM ENST00000287727.3:c.1403C>T p.Thr468Ile p.T468I ENST00000287727 NM_004799.3 468 aCa/aTa 4/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52704526 52704526 + missense_variant Missense_Mutation SNP T G NCIH2087_LUNG ENST00000287727.3:c.1437T>G p.Asp479Glu p.D479E ENST00000287727 NM_004799.3 479 gaT/gaG 4/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52704542 52704542 + missense_variant Missense_Mutation SNP G T SNU81_LARGE_INTESTINE ENST00000287727.3:c.1453G>T p.Asp485Tyr p.D485Y ENST00000287727 NM_004799.3 485 Gac/Tac 4/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52704581 52704581 + stop_gained Nonsense_Mutation SNP A T DMS53_LUNG ENST00000287727.3:c.1492A>T p.Lys498Ter p.K498* ENST00000287727 NM_004799.3 498 Aaa/Taa 4/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52705106 52705106 + missense_variant Missense_Mutation SNP C T rs922679050 DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000287727.3:c.2017C>T p.Leu673Phe p.L673F ENST00000287727 NM_004799.3 673 Ctc/Ttc 4/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52705221 52705221 + missense_variant Missense_Mutation SNP G T NCIH1963_LUNG ENST00000287727.3:c.2132G>T p.Arg711Met p.R711M ENST00000287727 NM_004799.3 711 aGg/aTg 4/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52729454 52729454 + missense_variant Missense_Mutation SNP G A NCIH1573_LUNG ENST00000287727.3:c.2188G>A p.Ala730Thr p.A730T ENST00000287727 NM_004799.3 730 Gct/Act 5/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52729540 52729540 + missense_variant Missense_Mutation SNP G T JHUEM7_ENDOMETRIUM ENST00000287727.3:c.2274G>T p.Met758Ile p.M758I ENST00000287727 NM_004799.3 758 atG/atT 5/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52729542 52729542 + missense_variant,splice_region_variant Missense_Mutation SNP A G rs565040324 HS895T_SKIN ENST00000287727.3:c.2276A>G p.Asn759Ser p.N759S ENST00000287727 NM_004799.3 759 aAt/aGt 5/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52729599 52729599 + intron_variant Intron SNP C T rs760783113 KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000287727.3:c.2278+55C>T p.*760* ENST00000287727 NM_004799.3 SUCCESS | |
| 1 52729611 52729611 T T SNU520_STOMACH FAILED | |
| ZFYVE9 9372 GRCh37 1 52729616 52729616 + intron_variant Intron SNP T C rs1234010884 HEL9217_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000287727.3:c.2278+72T>C p.*760* ENST00000287727 NM_004799.3 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52729616 52729616 + intron_variant Intron SNP T C rs1234010884 HEL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000287727.3:c.2278+72T>C p.*760* ENST00000287727 NM_004799.3 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52729677 52729677 + intron_variant Intron SNP A G NCIH82_LUNG ENST00000287727.3:c.2278+133A>G p.*760* ENST00000287727 NM_004799.3 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52732438 52732438 + missense_variant Missense_Mutation SNP C A HCT15_LARGE_INTESTINE ENST00000287727.3:c.2390C>A p.Ala797Asp p.A797D ENST00000287727 NM_004799.3 797 gCt/gAt 6/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52734150 52734150 + missense_variant Missense_Mutation SNP A G rs768984610 CW2_LARGE_INTESTINE ENST00000287727.3:c.2471A>G p.Glu824Gly p.E824G ENST00000287727 NM_004799.3 824 gAg/gGg 7/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52740137 52740137 + missense_variant,splice_region_variant Missense_Mutation SNP C A HDMYZ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000287727.3:c.2627C>A p.Thr876Lys p.T876K ENST00000287727 NM_004799.3 876 aCg/aAg 8/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52740158 52740158 + missense_variant Missense_Mutation SNP G T MHHNB11_AUTONOMIC_GANGLIA ENST00000287727.3:c.2648G>T p.Gly883Val p.G883V ENST00000287727 NM_004799.3 883 gGg/gTg 8/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52740227 52740227 + missense_variant Missense_Mutation SNP C T KYSE150_OESOPHAGUS ENST00000287727.3:c.2717C>T p.Pro906Leu p.P906L ENST00000287727 NM_004799.3 906 cCc/cTc 8/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52744180 52744180 + missense_variant Missense_Mutation SNP G T JHUEM7_ENDOMETRIUM ENST00000287727.3:c.2763G>T p.Glu921Asp p.E921D ENST00000287727 NM_004799.3 921 gaG/gaT 9/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52744239 52744239 + missense_variant Missense_Mutation SNP T C HEC265_ENDOMETRIUM ENST00000287727.3:c.2822T>C p.Val941Ala p.V941A ENST00000287727 NM_004799.3 941 gTa/gCa 9/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52747407 52747407 + missense_variant Missense_Mutation SNP C A rs747256286 HCT15_LARGE_INTESTINE ENST00000287727.3:c.2944C>A p.Leu982Ile p.L982I ENST00000287727 NM_004799.3 982 Cta/Ata 10/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52747486 52747486 + missense_variant,splice_region_variant Missense_Mutation SNP C A CORL88_LUNG ENST00000287727.3:c.3023C>A p.Ala1008Glu p.A1008E ENST00000287727 NM_004799.3 1008 gCa/gAa 10/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52759178 52759178 + missense_variant Missense_Mutation SNP A C LK2_LUNG ENST00000287727.3:c.3079A>C p.Ser1027Arg p.S1027R ENST00000287727 NM_004799.3 1027 Agt/Cgt 11/19 SUCCESS | |
| 1 52759261 52759261 G G NCIH1573_LUNG FAILED | |
| ZFYVE9 9372 GRCh37 1 52759279 52759279 + missense_variant Missense_Mutation SNP G T rs777897262 COLO679_SKIN ENST00000287727.3:c.3180G>T p.Gln1060His p.Q1060H ENST00000287727 NM_004799.3 1060 caG/caT 11/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52759283 52759283 + missense_variant Missense_Mutation SNP T C GP2D_LARGE_INTESTINE ENST00000287727.3:c.3184T>C p.Trp1062Arg p.W1062R ENST00000287727 NM_004799.3 1062 Tgg/Cgg 11/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52759349 52759349 + missense_variant,splice_region_variant Missense_Mutation SNP C T rs770518828 HEC6_ENDOMETRIUM ENST00000287727.3:c.3250C>T p.Leu1084Phe p.L1084F ENST00000287727 NM_004799.3 1084 Ctt/Ttt 11/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52759349 52759349 + missense_variant,splice_region_variant Missense_Mutation SNP C T rs770518828 SNU46_UPPER_AERODIGESTIVE_TRACT ENST00000287727.3:c.3250C>T p.Leu1084Phe p.L1084F ENST00000287727 NM_004799.3 1084 Ctt/Ttt 11/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52761586 52761586 + missense_variant Missense_Mutation SNP C G MDAMB468_BREAST ENST00000287727.3:c.3270C>G p.Phe1090Leu p.F1090L ENST00000287727 NM_004799.3 1090 ttC/ttG 12/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52761599 52761599 + missense_variant Missense_Mutation SNP C T SNU175_LARGE_INTESTINE ENST00000287727.3:c.3283C>T p.Arg1095Trp p.R1095W ENST00000287727 NM_004799.3 1095 Cgg/Tgg 12/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52769592 52769592 + missense_variant Missense_Mutation SNP A G F36P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000287727.3:c.3433A>G p.Asn1145Asp p.N1145D ENST00000287727 NM_004799.3 1145 Aat/Gat 13/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52798566 52798566 + missense_variant Missense_Mutation SNP A G NCIH2009_LUNG ENST00000287727.3:c.3565A>G p.Ser1189Gly p.S1189G ENST00000287727 NM_004799.3 1189 Agt/Ggt 14/19 SUCCESS | |
| 1 52803517 52803519 CAC CAC EPLC272H_LUNG FAILED | |
| ZFYVE9 9372 GRCh37 1 52803543 52803543 + missense_variant Missense_Mutation SNP C T rs775082321 FTC238_THYROID ENST00000287727.3:c.3770C>T p.Ala1257Val p.A1257V ENST00000287727 NM_004799.3 1257 gCg/gTg 16/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52803543 52803543 + missense_variant Missense_Mutation SNP C T rs775082321 HEC108_ENDOMETRIUM ENST00000287727.3:c.3770C>T p.Ala1257Val p.A1257V ENST00000287727 NM_004799.3 1257 gCg/gTg 16/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52805797 52805797 + splice_acceptor_variant Splice_Site SNP G A PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000287727.3:c.3834-1G>A p.X1278_splice ENST00000287727 NM_004799.3 1278 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52810442 52810443 + frameshift_variant Frame_Shift_Ins INS - T MFE319_ENDOMETRIUM ENST00000287727.3:c.3947dup p.Leu1317ProfsTer5 p.L1317Pfs*5 ENST00000287727 NM_004799.3 1314 -/T 18/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52811808 52811808 + missense_variant Missense_Mutation SNP C T rs1276115132 CL40_LARGE_INTESTINE ENST00000287727.3:c.4193C>T p.Pro1398Leu p.P1398L ENST00000287727 NM_004799.3 1398 cCg/cTg 19/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52811808 52811808 + missense_variant Missense_Mutation SNP C T rs1276115132 NCIH1435_LUNG ENST00000287727.3:c.4193C>T p.Pro1398Leu p.P1398L ENST00000287727 NM_004799.3 1398 cCg/cTg 19/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52811855 52811855 + missense_variant Missense_Mutation SNP A G NCIH1694_LUNG ENST00000287727.3:c.4240A>G p.Met1414Val p.M1414V ENST00000287727 NM_004799.3 1414 Atg/Gtg 19/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52811908 52811908 + 3_prime_UTR_variant 3'UTR SNP A T JVM3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000287727.3:c.*15A>T ENST00000287727 NM_004799.3 19/19 SUCCESS | |
| 1 52811909 52811909 T T CAL51_BREAST FAILED | |
| ZFYVE9 9372 GRCh37 1 52812059 52812059 + 3_prime_UTR_variant 3'UTR SNP G T rs190773395 NCIH2126_LUNG ENST00000287727.3:c.*166G>T ENST00000287727 NM_004799.3 19/19 SUCCESS | |
| ZFYVE9 9372 GRCh37 1 52812194 52812194 + 3_prime_UTR_variant 3'UTR SNP C T rs137955237 TE11_OESOPHAGUS ENST00000287727.3:c.*301C>T ENST00000287727 NM_004799.3 19/19 SUCCESS | |
| FAM159A GRCh37 1 53108570 53108570 + missense_variant Missense_Mutation SNP T C HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000517870.1:c.218T>C p.Val73Ala p.V73A ENST00000517870 NM_001042693.1 73 gTg/gCg 2/3 SUCCESS | |
| FAM159A GRCh37 1 53122564 53122564 + missense_variant Missense_Mutation SNP C T rs779836276 HS688AT_SKIN ENST00000517870.1:c.425C>T p.Pro142Leu p.P142L ENST00000517870 NM_001042693.1 142 cCg/cTg 3/3 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57111042 57111042 + 5_prime_UTR_variant 5'UTR SNP G A TT2609C02_THYROID ENST00000371244.4:c.-19G>A p.*7* ENST00000371244 NM_006252.3 1/9 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57140052 57140052 + splice_acceptor_variant Splice_Site SNP A T rs748974186 A4FUK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000371244.4:c.95-2A>T p.X32_splice ENST00000371244 NM_006252.3 32 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57140052 57140052 + splice_acceptor_variant Splice_Site SNP A T rs748974186 ALLSIL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000371244.4:c.95-2A>T p.X32_splice ENST00000371244 NM_006252.3 32 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57140052 57140052 + splice_acceptor_variant Splice_Site SNP A T rs748974186 AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000371244.4:c.95-2A>T p.X32_splice ENST00000371244 NM_006252.3 32 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57140052 57140052 + splice_acceptor_variant Splice_Site SNP A T rs748974186 CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000371244.4:c.95-2A>T p.X32_splice ENST00000371244 NM_006252.3 32 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57140052 57140052 + splice_acceptor_variant Splice_Site SNP A T rs748974186 DMS114_LUNG ENST00000371244.4:c.95-2A>T p.X32_splice ENST00000371244 NM_006252.3 32 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57140052 57140052 + splice_acceptor_variant Splice_Site SNP A T rs748974186 HEC50B_ENDOMETRIUM ENST00000371244.4:c.95-2A>T p.X32_splice ENST00000371244 NM_006252.3 32 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57140052 57140052 + splice_acceptor_variant Splice_Site SNP A T rs748974186 HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000371244.4:c.95-2A>T p.X32_splice ENST00000371244 NM_006252.3 32 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57140052 57140052 + splice_acceptor_variant Splice_Site SNP A T rs748974186 LS180_LARGE_INTESTINE ENST00000371244.4:c.95-2A>T p.X32_splice ENST00000371244 NM_006252.3 32 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57140052 57140052 + splice_acceptor_variant Splice_Site SNP A T rs748974186 MDAMB134VI_BREAST ENST00000371244.4:c.95-2A>T p.X32_splice ENST00000371244 NM_006252.3 32 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57140052 57140052 + splice_acceptor_variant Splice_Site SNP A T rs748974186 MHHCALL3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000371244.4:c.95-2A>T p.X32_splice ENST00000371244 NM_006252.3 32 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57140052 57140052 + splice_acceptor_variant Splice_Site SNP A T rs748974186 NALM19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000371244.4:c.95-2A>T p.X32_splice ENST00000371244 NM_006252.3 32 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57140052 57140052 + splice_acceptor_variant Splice_Site SNP A T rs748974186 NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000371244.4:c.95-2A>T p.X32_splice ENST00000371244 NM_006252.3 32 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57140052 57140052 + splice_acceptor_variant Splice_Site SNP A T rs748974186 NCIH596_LUNG ENST00000371244.4:c.95-2A>T p.X32_splice ENST00000371244 NM_006252.3 32 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57140052 57140052 + splice_acceptor_variant Splice_Site SNP A T rs748974186 NCIH929_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000371244.4:c.95-2A>T p.X32_splice ENST00000371244 NM_006252.3 32 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57140052 57140052 + splice_acceptor_variant Splice_Site SNP A T rs748974186 OCIAML2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000371244.4:c.95-2A>T p.X32_splice ENST00000371244 NM_006252.3 32 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57140052 57140052 + splice_acceptor_variant Splice_Site SNP A T rs748974186 P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000371244.4:c.95-2A>T p.X32_splice ENST00000371244 NM_006252.3 32 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57140052 57140052 + splice_acceptor_variant Splice_Site SNP A T rs748974186 PL21_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000371244.4:c.95-2A>T p.X32_splice ENST00000371244 NM_006252.3 32 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57140052 57140052 + splice_acceptor_variant Splice_Site SNP A T rs748974186 SUDHL5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000371244.4:c.95-2A>T p.X32_splice ENST00000371244 NM_006252.3 32 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57140182 57140182 + missense_variant Missense_Mutation SNP C T RKO_LARGE_INTESTINE ENST00000371244.4:c.223C>T p.His75Tyr p.H75Y ENST00000371244 NM_006252.3 75 Cat/Tat 2/9 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57157066 57157066 + splice_acceptor_variant Splice_Site SNP G A HT115_LARGE_INTESTINE ENST00000371244.4:c.237-1G>A p.X79_splice ENST00000371244 NM_006252.3 79 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57157093 57157094 + frameshift_variant Frame_Shift_Ins INS - T rs776405656 KMS12BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000371244.4:c.270dup p.Met91TyrfsTer10 p.M91Yfs*10 ENST00000371244 NM_006252.3 88 gat/gaTt 3/9 SUCCESS | |
| 1 57157094 57157094 T T COLO684_ENDOMETRIUM FAILED | |
| 1 57157094 57157094 T T HEC151_ENDOMETRIUM FAILED | |
| PRKAA2 5563 GRCh37 1 57157141 57157141 + missense_variant Missense_Mutation SNP A G EN_ENDOMETRIUM ENST00000371244.4:c.311A>G p.Tyr104Cys p.Y104C ENST00000371244 NM_006252.3 104 tAc/tGc 3/9 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57157147 57157147 + missense_variant Missense_Mutation SNP G A NCIH889_LUNG ENST00000371244.4:c.317G>A p.Cys106Tyr p.C106Y ENST00000371244 NM_006252.3 106 tGt/tAt 3/9 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57158085 57158085 + missense_variant Missense_Mutation SNP T C EFO27_OVARY ENST00000371244.4:c.385T>C p.Tyr129His p.Y129H ENST00000371244 NM_006252.3 129 Tac/Cac 4/9 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57158094 57158094 + missense_variant Missense_Mutation SNP A G HEC59_ENDOMETRIUM ENST00000371244.4:c.394A>G p.Arg132Gly p.R132G ENST00000371244 NM_006252.3 132 Agg/Ggg 4/9 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57159454 57159454 + missense_variant Missense_Mutation SNP G A NCIH1975_LUNG ENST00000371244.4:c.492G>A p.Met164Ile p.M164I ENST00000371244 NM_006252.3 164 atG/atA 5/9 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57159474 57159474 + missense_variant Missense_Mutation SNP G T HEC251_ENDOMETRIUM ENST00000371244.4:c.512G>T p.Arg171Ile p.R171I ENST00000371244 NM_006252.3 171 aGa/aTa 5/9 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57161616 57161616 + missense_variant Missense_Mutation SNP C T rs1557560303 CAOV4_OVARY ENST00000371244.4:c.572C>T p.Ala191Val p.A191V ENST00000371244 NM_006252.3 191 gCa/gTa 6/9 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57161661 57161661 + missense_variant Missense_Mutation SNP C T HT115_LARGE_INTESTINE ENST00000371244.4:c.617C>T p.Ala206Val p.A206V ENST00000371244 NM_006252.3 206 gCt/gTt 6/9 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57161706 57161706 + missense_variant Missense_Mutation SNP C T rs748011810 NCIH508_LARGE_INTESTINE ENST00000371244.4:c.662C>T p.Thr221Met p.T221M ENST00000371244 NM_006252.3 221 aCg/aTg 6/9 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57161724 57161724 + missense_variant Missense_Mutation SNP G T NCIH1876_LUNG ENST00000371244.4:c.680G>T p.Arg227Leu p.R227L ENST00000371244 NM_006252.3 227 cGa/cTa 6/9 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57161760 57161760 + missense_variant Missense_Mutation SNP G A rs755095917 HH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000371244.4:c.716G>A p.Arg239His p.R239H ENST00000371244 NM_006252.3 239 cGt/cAt 6/9 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57161790 57161790 + missense_variant Missense_Mutation SNP T C EN_ENDOMETRIUM ENST00000371244.4:c.746T>C p.Leu249Pro p.L249P ENST00000371244 NM_006252.3 249 cTg/cCg 6/9 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57161810 57161810 + stop_gained Nonsense_Mutation SNP C T rs778254708 HEC6_ENDOMETRIUM ENST00000371244.4:c.766C>T p.Arg256Ter p.R256* ENST00000371244 NM_006252.3 256 Cga/Tga 6/9 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57169675 57169675 + missense_variant Missense_Mutation SNP A G HEC251_ENDOMETRIUM ENST00000371244.4:c.820A>G p.Ser274Gly p.S274G ENST00000371244 NM_006252.3 274 Agt/Ggt 7/9 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57169705 57169705 + missense_variant Missense_Mutation SNP G A COLO792_SKIN ENST00000371244.4:c.850G>A p.Asp284Asn p.D284N ENST00000371244 NM_006252.3 284 Gat/Aat 7/9 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57169805 57169805 + missense_variant Missense_Mutation SNP A G HCT15_LARGE_INTESTINE ENST00000371244.4:c.950A>G p.Gln317Arg p.Q317R ENST00000371244 NM_006252.3 317 cAa/cGa 7/9 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57169957 57169957 + stop_gained Nonsense_Mutation SNP G T CW2_LARGE_INTESTINE ENST00000371244.4:c.1102G>T p.Glu368Ter p.E368* ENST00000371244 NM_006252.3 368 Gaa/Taa 7/9 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57169962 57169962 + missense_variant Missense_Mutation SNP G T NCIH23_LUNG ENST00000371244.4:c.1107G>T p.Arg369Ser p.R369S ENST00000371244 NM_006252.3 369 agG/agT 7/9 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57169966 57169966 + missense_variant Missense_Mutation SNP C A HCC1187_BREAST ENST00000371244.4:c.1111C>A p.Pro371Thr p.P371T ENST00000371244 NM_006252.3 371 Cca/Aca 7/9 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57170044 57170044 + missense_variant Missense_Mutation SNP G A CW2_LARGE_INTESTINE ENST00000371244.4:c.1189G>A p.Val397Met p.V397M ENST00000371244 NM_006252.3 397 Gtg/Atg 7/9 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57171805 57171805 + missense_variant Missense_Mutation SNP C A 22RV1_PROSTATE ENST00000371244.4:c.1334C>A p.Pro445Gln p.P445Q ENST00000371244 NM_006252.3 445 cCa/cAa 8/9 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57171811 57171811 + missense_variant Missense_Mutation SNP C T CAL51_BREAST ENST00000371244.4:c.1340C>T p.Thr447Ile p.T447I ENST00000371244 NM_006252.3 447 aCt/aTt 8/9 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57173180 57173180 + missense_variant Missense_Mutation SNP A G rs368958705 SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000371244.4:c.1453A>G p.Thr485Ala p.T485A ENST00000371244 NM_006252.3 485 Aca/Gca 9/9 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57173205 57173205 + missense_variant Missense_Mutation SNP C T TOV21G_OVARY ENST00000371244.4:c.1478C>T p.Ala493Val p.A493V ENST00000371244 NM_006252.3 493 gCt/gTt 9/9 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57173283 57173283 + missense_variant Missense_Mutation SNP C T rs1557565795 SW1463_LARGE_INTESTINE ENST00000371244.4:c.1556C>T p.Ser519Phe p.S519F ENST00000371244 NM_006252.3 519 tCt/tTt 9/9 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57173294 57173294 + missense_variant Missense_Mutation SNP A G HCC2157_BREAST ENST00000371244.4:c.1567A>G p.Ser523Gly p.S523G ENST00000371244 NM_006252.3 523 Agc/Ggc 9/9 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57173352 57173352 + missense_variant Missense_Mutation SNP T C rs200621520 RL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000371244.4:c.1625T>C p.Met542Thr p.M542T ENST00000371244 NM_006252.3 542 aTg/aCg 9/9 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57173373 57173373 + missense_variant Missense_Mutation SNP C G rs766345818 HEC151_ENDOMETRIUM ENST00000371244.4:c.1646C>G p.Thr549Ser p.T549S ENST00000371244 NM_006252.3 549 aCt/aGt 9/9 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57173373 57173373 + missense_variant Missense_Mutation SNP C G rs766345818 KE97_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000371244.4:c.1646C>G p.Thr549Ser p.T549S ENST00000371244 NM_006252.3 549 aCt/aGt 9/9 SUCCESS | |
| PRKAA2 5563 GRCh37 1 57173427 57173427 + 3_prime_UTR_variant 3'UTR SNP A G HCC1195_LUNG ENST00000371244.4:c.*41A>G ENST00000371244 NM_006252.3 9/9 SUCCESS | |
| DAB1 1600 GRCh37 1 57476356 57476356 + downstream_gene_variant 3'Flank SNP G T VMCUB1_URINARY_TRACT ENST00000371231 SUCCESS | |
| DAB1 1600 GRCh37 1 57476358 57476358 + downstream_gene_variant 3'Flank SNP C A NCIH1666_LUNG ENST00000371231 SUCCESS | |
| DAB1 1600 GRCh37 1 57476362 57476362 + downstream_gene_variant 3'Flank SNP C T rs369711925 DMS114_LUNG ENST00000371231 SUCCESS | |
| DAB1 1600 GRCh37 1 57476429 57476429 + missense_variant Missense_Mutation SNP G A WM88_SKIN ENST00000371231.1:c.1706C>T p.Pro569Leu p.P569L ENST00000371231 569 cCa/cTa 15/15 SUCCESS | |
| DAB1 1600 GRCh37 1 57476845 57476845 + missense_variant Missense_Mutation SNP A C SNU81_LARGE_INTESTINE ENST00000371231.1:c.1644T>G p.Ser548Arg p.S548R ENST00000371231 548 agT/agG 14/15 SUCCESS | |
| DAB1 1600 GRCh37 1 57476931 57476931 + missense_variant Missense_Mutation SNP G T NCIH1437_LUNG ENST00000371231.1:c.1558C>A p.Pro520Thr p.P520T ENST00000371231 520 Cct/Act 14/15 SUCCESS | |
| DAB1 1600 GRCh37 1 57480606 57480606 + missense_variant Missense_Mutation SNP G T HCC1438_LUNG ENST00000371231.1:c.1493C>A p.Ser498Tyr p.S498Y ENST00000371231 498 tCc/tAc 13/15 SUCCESS | |
| DAB1 1600 GRCh37 1 57480631 57480631 + missense_variant Missense_Mutation SNP C A HEC1B_ENDOMETRIUM ENST00000371231.1:c.1468G>T p.Asp490Tyr p.D490Y ENST00000371231 490 Gac/Tac 13/15 SUCCESS | |
| DAB1 1600 GRCh37 1 57480654 57480654 + missense_variant Missense_Mutation SNP T C rs752070568 DV90_LUNG ENST00000371231.1:c.1445A>G p.Lys482Arg p.K482R ENST00000371231 482 aAa/aGa 13/15 SUCCESS | |
| DAB1 1600 GRCh37 1 57480667 57480667 + missense_variant Missense_Mutation SNP T C SNU407_LARGE_INTESTINE ENST00000371231.1:c.1432A>G p.Ser478Gly p.S478G ENST00000371231 478 Agt/Ggt 13/15 SUCCESS | |
| DAB1 1600 GRCh37 1 57480729 57480729 + missense_variant Missense_Mutation SNP G A rs768694523 SNU1040_LARGE_INTESTINE ENST00000371231.1:c.1370C>T p.Pro457Leu p.P457L ENST00000371231 457 cCg/cTg 13/15 SUCCESS | |
| DAB1 1600 GRCh37 1 57480763 57480763 + stop_gained Nonsense_Mutation SNP C A HEC251_ENDOMETRIUM ENST00000371231.1:c.1336G>T p.Glu446Ter p.E446* ENST00000371231 446 Gaa/Taa 13/15 SUCCESS | |
| DAB1 1600 GRCh37 1 57480822 57480822 + missense_variant Missense_Mutation SNP G A rs143039428 RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000371231.1:c.1277C>T p.Thr426Met p.T426M ENST00000371231 426 aCg/aTg 13/15 SUCCESS | |
| DAB1 1600 GRCh37 1 57480835 57480835 + missense_variant Missense_Mutation SNP T C ISTMES1_PLEURA ENST00000371231.1:c.1264A>G p.Thr422Ala p.T422A ENST00000371231 422 Acc/Gcc 13/15 SUCCESS | |
| DAB1 1600 GRCh37 1 57480868 57480868 + missense_variant Missense_Mutation SNP C T rs1557545876 CAL29_URINARY_TRACT ENST00000371231.1:c.1231G>A p.Ala411Thr p.A411T ENST00000371231 411 Gcc/Acc 13/15 SUCCESS | |
| DAB1 1600 GRCh37 1 57480868 57480868 + missense_variant Missense_Mutation SNP C A MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000371231.1:c.1231G>T p.Ala411Ser p.A411S ENST00000371231 411 Gcc/Tcc 13/15 SUCCESS | |
| DAB1 1600 GRCh37 1 57480898 57480898 + missense_variant Missense_Mutation SNP G C rs754773594 SNU878_LIVER ENST00000371231.1:c.1201C>G p.Pro401Ala p.P401A ENST00000371231 401 Ccc/Gcc 13/15 SUCCESS | |
| DAB1 1600 GRCh37 1 57480944 57480944 + missense_variant Missense_Mutation SNP C A rs1338290521 JJN3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000371231.1:c.1155G>T p.Gln385His p.Q385H ENST00000371231 385 caG/caT 13/15 SUCCESS | |
| DAB1 1600 GRCh37 1 57480990 57480990 + missense_variant Missense_Mutation SNP T C MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000371231.1:c.1109A>G p.Gln370Arg p.Q370R ENST00000371231 370 cAg/cGg 13/15 SUCCESS | |
| DAB1 1600 GRCh37 1 57481012 57481012 + missense_variant Missense_Mutation SNP C T rs199793708 REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000371231.1:c.1087G>A p.Ala363Thr p.A363T ENST00000371231 363 Gct/Act 13/15 SUCCESS | |
| DAB1 1600 GRCh37 1 57489218 57489218 + missense_variant Missense_Mutation SNP G T rs754457394 HCC827_LUNG ENST00000371231.1:c.980C>A p.Ala327Asp p.A327D ENST00000371231 327 gCt/gAt 12/15 SUCCESS | |
| DAB1 1600 GRCh37 1 57489218 57489218 + missense_variant Missense_Mutation SNP G T rs754457394 JHUEM7_ENDOMETRIUM ENST00000371231.1:c.980C>A p.Ala327Asp p.A327D ENST00000371231 327 gCt/gAt 12/15 SUCCESS | |
| DAB1 1600 GRCh37 1 57489275 57489275 + stop_gained Nonsense_Mutation SNP G T MDAMB361_BREAST ENST00000371231.1:c.923C>A p.Ser308Ter p.S308* ENST00000371231 308 tCa/tAa 12/15 SUCCESS | |
| DAB1 1600 GRCh37 1 57489306 57489306 + missense_variant Missense_Mutation SNP C T rs532864586 SNU175_LARGE_INTESTINE ENST00000371231.1:c.892G>A p.Ala298Thr p.A298T ENST00000371231 298 Gca/Aca 12/15 SUCCESS | |
| DAB1 1600 GRCh37 1 57491673 57491673 + missense_variant Missense_Mutation SNP G A rs776895180 GP2D_LARGE_INTESTINE ENST00000371231.1:c.866C>T p.Pro289Leu p.P289L ENST00000371231 289 cCt/cTt 11/15 SUCCESS | |
| 1 57491693 57491693 A A HEC265_ENDOMETRIUM FAILED | |
| DAB1 1600 GRCh37 1 57536716 57536716 + missense_variant Missense_Mutation SNP C T rs371998081 HCT116_LARGE_INTESTINE ENST00000371231.1:c.577G>A p.Val193Ile p.V193I ENST00000371231 193 Gtt/Att 6/15 SUCCESS | |
| DAB1 1600 GRCh37 1 57537241 57537241 + missense_variant Missense_Mutation SNP T C DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000371231.1:c.512A>G p.Glu171Gly p.E171G ENST00000371231 171 gAa/gGa 5/15 SUCCESS | |
| DAB1 1600 GRCh37 1 57537310 57537310 + missense_variant Missense_Mutation SNP T C SNU324_PANCREAS ENST00000371231.1:c.443A>G p.Glu148Gly p.E148G ENST00000371231 148 gAa/gGa 5/15 SUCCESS | |
| DAB1 1600 GRCh37 1 57537957 57537957 + missense_variant,splice_region_variant Missense_Mutation SNP G A rs377691560 SNU1040_LARGE_INTESTINE ENST00000371231.1:c.437C>T p.Ala146Val p.A146V ENST00000371231 146 gCg/gTg 4/15 SUCCESS | |
| DAB1 1600 GRCh37 1 57537997 57537997 + missense_variant Missense_Mutation SNP C T COLO679_SKIN ENST00000371231.1:c.397G>A p.Glu133Lys p.E133K ENST00000371231 133 Gaa/Aaa 4/15 SUCCESS | |
| DAB1 1600 GRCh37 1 57538009 57538009 + missense_variant Missense_Mutation SNP C T rs755758685 RERFLCMS_LUNG ENST00000371231.1:c.385G>A p.Val129Ile p.V129I ENST00000371231 129 Gtt/Att 4/15 SUCCESS | |
| DAB1 1600 GRCh37 1 57538038 57538038 + missense_variant Missense_Mutation SNP T C MFE319_ENDOMETRIUM ENST00000371231.1:c.356A>G p.Asp119Gly p.D119G ENST00000371231 119 gAc/gGc 4/15 SUCCESS | |
| DAB1 1600 GRCh37 1 57611003 57611003 + missense_variant Missense_Mutation SNP C A DMS454_LUNG ENST00000371231.1:c.167G>T p.Arg56Leu p.R56L ENST00000371231 56 cGg/cTg 2/15 SUCCESS | |
| DAB1 1600 GRCh37 1 57611003 57611003 + missense_variant Missense_Mutation SNP C T HEC265_ENDOMETRIUM ENST00000371231.1:c.167G>A p.Arg56Gln p.R56Q ENST00000371231 56 cGg/cAg 2/15 SUCCESS | |
| DAB1 1600 GRCh37 1 57611003 57611003 + missense_variant Missense_Mutation SNP C A YD38_UPPER_AERODIGESTIVE_TRACT ENST00000371231.1:c.167G>T p.Arg56Leu p.R56L ENST00000371231 56 cGg/cTg 2/15 SUCCESS | |
| DAB1 1600 GRCh37 1 57611010 57611010 + missense_variant Missense_Mutation SNP C T rs774969457 22RV1_PROSTATE ENST00000371231.1:c.160G>A p.Ala54Thr p.A54T ENST00000371231 54 Gca/Aca 2/15 SUCCESS | |
| DAB1 1600 GRCh37 1 57611045 57611045 + missense_variant Missense_Mutation SNP T C SNU1040_LARGE_INTESTINE ENST00000371231.1:c.125A>G p.Tyr42Cys p.Y42C ENST00000371231 42 tAc/tGc 2/15 SUCCESS | |
| DAB1 1600 GRCh37 1 57611049 57611050 + missense_variant Missense_Mutation DNP GG AA KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000371231.1:c.120_121delinsTT p.Arg41Trp p.R41W ENST00000371231 40 gtCCgg/gtTTgg 2/15 SUCCESS | |
| DAB1 1600 GRCh37 1 57756704 57756704 + 5_prime_UTR_variant 5'UTR SNP C T NCIH1436_LUNG ENST00000371231.1:c.-2G>A p.*1* ENST00000371231 1/15 SUCCESS | |
| DAB1 1600 GRCh37 1 57756722 57756722 + 5_prime_UTR_variant 5'UTR SNP A T BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000371231.1:c.-20T>A p.*7* ENST00000371231 1/15 SUCCESS | |
| DAB1 1600 GRCh37 1 57756734 57756734 + 5_prime_UTR_variant 5'UTR SNP T C BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000371231.1:c.-32A>G p.*11* ENST00000371231 1/15 SUCCESS | |
| DAB1 1600 GRCh37 1 57756756 57756756 + upstream_gene_variant 5'Flank SNP T C rs1198470643 PC3_PROSTATE ENST00000371231 SUCCESS | |
| DAB1 1600 GRCh37 1 57756765 57756765 + upstream_gene_variant 5'Flank SNP C T MDST8_LARGE_INTESTINE ENST00000371231 SUCCESS | |
| DAB1 1600 GRCh37 1 57756798 57756798 + upstream_gene_variant 5'Flank SNP T A rs559207427 A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000371231 SUCCESS | |
| DAB1 1600 GRCh37 1 57756798 57756798 + upstream_gene_variant 5'Flank SNP T A rs559207427 HUPT3_PANCREAS ENST00000371231 SUCCESS | |
| DAB1 1600 GRCh37 1 57756828 57756828 + upstream_gene_variant 5'Flank SNP C A rs758072721 HCC4006_LUNG ENST00000371231 SUCCESS | |
| DAB1 1600 GRCh37 1 57756828 57756828 + upstream_gene_variant 5'Flank SNP C A rs758072721 NCIH684_LIVER ENST00000371231 SUCCESS | |
| JUN 3725 GRCh37 1 59247577 59247577 + 3_prime_UTR_variant 3'UTR SNP C G rs1336018523 OVTOKO_OVARY ENST00000371222.2:c.*170G>C ENST00000371222 NM_002228.3 1/1 SUCCESS | |
| JUN 3725 GRCh37 1 59247584 59247584 + 3_prime_UTR_variant 3'UTR SNP A C rs1048597646 MCAS_OVARY ENST00000371222.2:c.*163T>G ENST00000371222 NM_002228.3 1/1 SUCCESS | |
| JUN 3725 GRCh37 1 59247598 59247598 + 3_prime_UTR_variant 3'UTR SNP C T rs1645577475 RL952_ENDOMETRIUM ENST00000371222.2:c.*149G>A ENST00000371222 NM_002228.3 1/1 SUCCESS | |
| 1 59247653 59247653 T T SNUC5_LARGE_INTESTINE FAILED | |
| 1 59247706 59247706 T T LS411N_LARGE_INTESTINE FAILED | |
| 1 59247730 59247730 C C SNGM_ENDOMETRIUM FAILED | |
| JUN 3725 GRCh37 1 59247737 59247737 + 3_prime_UTR_variant 3'UTR SNP C T rs747129731 ML1_THYROID ENST00000371222.2:c.*10G>A ENST00000371222 NM_002228.3 1/1 SUCCESS | |
| JUN 3725 GRCh37 1 59247784 59247784 + missense_variant Missense_Mutation SNP C T NCIH684_LIVER ENST00000371222.2:c.959G>A p.Cys320Tyr p.C320Y ENST00000371222 NM_002228.3 320 tGc/tAc 1/1 SUCCESS | |
| JUN 3725 GRCh37 1 59247797 59247797 + missense_variant Missense_Mutation SNP C T HEC59_ENDOMETRIUM ENST00000371222.2:c.946G>A p.Val316Ile p.V316I ENST00000371222 NM_002228.3 316 Gtt/Att 1/1 SUCCESS | |
| JUN 3725 GRCh37 1 59248070 59248070 + missense_variant Missense_Mutation SNP G T CW2_LARGE_INTESTINE ENST00000371222.2:c.673C>A p.Leu225Met p.L225M ENST00000371222 NM_002228.3 225 Ctg/Atg 1/1 SUCCESS | |
| JUN 3725 GRCh37 1 59248138 59248138 + missense_variant Missense_Mutation SNP T G rs559705593 KG1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000371222.2:c.605A>C p.Gln202Pro p.Q202P ENST00000371222 NM_002228.3 202 cAg/cCg 1/1 SUCCESS | |
| JUN 3725 GRCh37 1 59248592 59248592 + missense_variant Missense_Mutation SNP G T rs757826090 NCIH1373_LUNG ENST00000371222.2:c.151C>A p.Pro51Thr p.P51T ENST00000371222 NM_002228.3 51 Ccg/Acg 1/1 SUCCESS | |
| NFIA 4774 GRCh37 1 61548466 61548467 + inframe_insertion In_Frame_Ins INS - TAT NCIH1666_LUNG ENST00000403491.3:c.5_7dup p.Tyr2dup p.Y2dup ENST00000403491 NM_001134673.3 2 -/TAT 1/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61553899 61553899 + stop_gained Nonsense_Mutation SNP C T HEC59_ENDOMETRIUM ENST00000403491.3:c.106C>T p.Arg36Ter p.R36* ENST00000403491 NM_001134673.3 36 Cga/Tga 2/11 SUCCESS | |
| 1 61553917 61553917 A A MDAPCA2B_PROSTATE FAILED | |
| NFIA 4774 GRCh37 1 61553987 61553987 + missense_variant Missense_Mutation SNP C T rs201450663 HS934T_SKIN ENST00000403491.3:c.194C>T p.Pro65Leu p.P65L ENST00000403491 NM_001134673.3 65 cCa/cTa 2/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61554029 61554029 + missense_variant Missense_Mutation SNP T C IPC298_SKIN ENST00000403491.3:c.236T>C p.Leu79Ser p.L79S ENST00000403491 NM_001134673.3 79 tTg/tCg 2/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61554094 61554094 + missense_variant Missense_Mutation SNP C T rs1204944742 SW620_LARGE_INTESTINE ENST00000403491.3:c.301C>T p.Pro101Ser p.P101S ENST00000403491 NM_001134673.3 101 Cca/Tca 2/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61554215 61554215 + missense_variant Missense_Mutation SNP C T rs1309732498 OVISE_OVARY ENST00000403491.3:c.422C>T p.Pro141Leu p.P141L ENST00000403491 NM_001134673.3 141 cCg/cTg 2/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61554236 61554236 + missense_variant Missense_Mutation SNP A T CHAGOK1_LUNG ENST00000403491.3:c.443A>T p.Glu148Val p.E148V ENST00000403491 NM_001134673.3 148 gAg/gTg 2/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61554254 61554254 + missense_variant Missense_Mutation SNP C T OUMS23_LARGE_INTESTINE ENST00000403491.3:c.461C>T p.Pro154Leu p.P154L ENST00000403491 NM_001134673.3 154 cCa/cTa 2/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61554319 61554319 + missense_variant Missense_Mutation SNP G A HEC251_ENDOMETRIUM ENST00000403491.3:c.526G>A p.Asp176Asn p.D176N ENST00000403491 NM_001134673.3 176 Gat/Aat 2/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61554319 61554319 + missense_variant Missense_Mutation SNP G A HT115_LARGE_INTESTINE ENST00000403491.3:c.526G>A p.Asp176Asn p.D176N ENST00000403491 NM_001134673.3 176 Gat/Aat 2/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61798217 61798217 + stop_gained Nonsense_Mutation SNP C G CMK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.659C>G p.Ser220Ter p.S220* ENST00000403491 NM_001134673.3 220 tCa/tGa 4/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61798217 61798217 + missense_variant Missense_Mutation SNP C T RPMI7951_SKIN ENST00000403491.3:c.659C>T p.Ser220Leu p.S220L ENST00000403491 NM_001134673.3 220 tCa/tTa 4/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61824898 61824899 + frameshift_variant Frame_Shift_Ins INS - C SNU1_STOMACH ENST00000403491.3:c.902dup p.Gly302ArgfsTer11 p.G302Rfs*11 ENST00000403491 NM_001134673.3 300 tcc/tCcc 6/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61869770 61869770 + splice_region_variant,intron_variant Splice_Region SNP C T rs182288368 HEC50B_ENDOMETRIUM ENST00000403491.3:c.1076-6C>T p.X359_splice ENST00000403491 NM_001134673.3 359 SUCCESS | |
| NFIA 4774 GRCh37 1 61869770 61869770 + splice_region_variant,intron_variant Splice_Region SNP C T rs182288368 HS739T_BREAST ENST00000403491.3:c.1076-6C>T p.X359_splice ENST00000403491 NM_001134673.3 359 SUCCESS | |
| NFIA 4774 GRCh37 1 61869770 61869770 + splice_region_variant,intron_variant Splice_Region SNP C T rs182288368 HSC3_UPPER_AERODIGESTIVE_TRACT ENST00000403491.3:c.1076-6C>T p.X359_splice ENST00000403491 NM_001134673.3 359 SUCCESS | |
| NFIA 4774 GRCh37 1 61869770 61869770 + splice_region_variant,intron_variant Splice_Region SNP C T rs182288368 KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.1076-6C>T p.X359_splice ENST00000403491 NM_001134673.3 359 SUCCESS | |
| NFIA 4774 GRCh37 1 61869770 61869770 + splice_region_variant,intron_variant Splice_Region SNP C T rs182288368 KNS60_CENTRAL_NERVOUS_SYSTEM ENST00000403491.3:c.1076-6C>T p.X359_splice ENST00000403491 NM_001134673.3 359 SUCCESS | |
| NFIA 4774 GRCh37 1 61869770 61869770 + splice_region_variant,intron_variant Splice_Region SNP C T rs182288368 KYSE30_OESOPHAGUS ENST00000403491.3:c.1076-6C>T p.X359_splice ENST00000403491 NM_001134673.3 359 SUCCESS | |
| NFIA 4774 GRCh37 1 61869770 61869770 + splice_region_variant,intron_variant Splice_Region SNP C T rs182288368 KYSE520_OESOPHAGUS ENST00000403491.3:c.1076-6C>T p.X359_splice ENST00000403491 NM_001134673.3 359 SUCCESS | |
| NFIA 4774 GRCh37 1 61869770 61869770 + splice_region_variant,intron_variant Splice_Region SNP C T rs182288368 OUMS23_LARGE_INTESTINE ENST00000403491.3:c.1076-6C>T p.X359_splice ENST00000403491 NM_001134673.3 359 SUCCESS | |
| NFIA 4774 GRCh37 1 61869770 61869770 + splice_region_variant,intron_variant Splice_Region SNP C T rs182288368 PSN1_PANCREAS ENST00000403491.3:c.1076-6C>T p.X359_splice ENST00000403491 NM_001134673.3 359 SUCCESS | |
| NFIA 4774 GRCh37 1 61869869 61869869 + missense_variant Missense_Mutation SNP A G TE11_OESOPHAGUS ENST00000403491.3:c.1169A>G p.Tyr390Cys p.Y390C ENST00000403491 NM_001134673.3 390 tAt/tGt 8/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61872334 61872334 + missense_variant Missense_Mutation SNP C T rs533067936 KALS1_CENTRAL_NERVOUS_SYSTEM ENST00000403491.3:c.1355C>T p.Pro452Leu p.P452L ENST00000403491 NM_001134673.3 452 cCg/cTg 9/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921015 61921015 + 3_prime_UTR_variant 3'UTR SNP A T BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000403491.3:c.*23A>T ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921034 61921034 + 3_prime_UTR_variant 3'UTR SNP C T rs114023473 GSS_STOMACH ENST00000403491.3:c.*42C>T ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921034 61921034 + 3_prime_UTR_variant 3'UTR SNP C T rs114023473 OUMS23_LARGE_INTESTINE ENST00000403491.3:c.*42C>T ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921034 61921034 + 3_prime_UTR_variant 3'UTR SNP C T rs114023473 SNU466_CENTRAL_NERVOUS_SYSTEM ENST00000403491.3:c.*42C>T ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921072 61921072 + 3_prime_UTR_variant 3'UTR SNP A G BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000403491.3:c.*80A>G ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921090 61921090 + 3_prime_UTR_variant 3'UTR SNP C G rs369861162 ZR751_BREAST ENST00000403491.3:c.*98C>G ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921120 61921120 + 3_prime_UTR_variant 3'UTR SNP A T KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*128A>T ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 253JBV_URINARY_TRACT ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 253J_URINARY_TRACT ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 42MGBA_CENTRAL_NERVOUS_SYSTEM ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 59M_OVARY ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 697_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 8305C_THYROID ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 A204_SOFT_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 A2058_SKIN ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 A253_SALIVARY_GLAND ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 A375_SKIN ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 A498_KIDNEY ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 A4FUK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 A673_BONE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 ACHN_KIDNEY ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 AGS_STOMACH ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 AM38_CENTRAL_NERVOUS_SYSTEM ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 ASPC1_PANCREAS ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 AU565_BREAST ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 BDCM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 BT474_BREAST ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 BT483_BREAST ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 BT549_BREAST ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 BV173_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 C2BBE1_LARGE_INTESTINE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 CAL148_BREAST ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 CAL27_UPPER_AERODIGESTIVE_TRACT ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 CAL62_THYROID ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 CAL78_BONE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 CAL851_BREAST ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 CAOV4_OVARY ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 CAPAN1_PANCREAS ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 CFPAC1_PANCREAS ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 CJM_SKIN ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 CL14_LARGE_INTESTINE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 CL40_LARGE_INTESTINE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 COLO320_LARGE_INTESTINE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 COLO741_SKIN ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 COLO783_SKIN ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 COLO792_SKIN ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 CORL24_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 CORL47_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 COV318_OVARY ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 COV362_OVARY ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 DETROIT562_UPPER_AERODIGESTIVE_TRACT ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 DM3_PLEURA ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 DMS114_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 DMS273_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 DMS454_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 DMS79_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 DOHH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 DU4475_BREAST ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 EBC1_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 ECC10_STOMACH ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 ECGI10_OESOPHAGUS ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 EFM19_BREAST ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 EHEB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 EOL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 EPLC272H_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 ES2_OVARY ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 FADU_UPPER_AERODIGESTIVE_TRACT ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 FTC133_THYROID ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 FU97_STOMACH ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 FUOV1_OVARY ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 G361_SKIN ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 G401_SOFT_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 GCIY_STOMACH ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 GDM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 GOS3_CENTRAL_NERVOUS_SYSTEM ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 GRANTA519_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 GSS_STOMACH ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HCC1187_BREAST ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HCC1395_BREAST ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HCC1588_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HCC2218_BREAST ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HCC2279_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HCC2935_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HCC33_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HCC366_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HCC4006_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HCC56_LARGE_INTESTINE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HCC70_BREAST ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HCC78_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HCC827_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HCC95_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HDMYZ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HEC50B_ENDOMETRIUM ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HLF_LIVER ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HMC18_BREAST ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HPAFII_PANCREAS ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HS172T_URINARY_TRACT ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HS343T_BREAST ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HS578T_BREAST ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HS600T_SKIN ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HS683_CENTRAL_NERVOUS_SYSTEM ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HS688AT_SKIN ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HS695T_SKIN ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HS706T_BONE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HS746T_STOMACH ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HS819T_BONE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HS852T_SKIN ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HS888T_BONE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HS934T_SKIN ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HS936T_SKIN ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HS940T_SKIN ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HSC2_UPPER_AERODIGESTIVE_TRACT ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HSC4_UPPER_AERODIGESTIVE_TRACT ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HT144_SKIN ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HUH28_BILIARY_TRACT ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HUH6_LIVER ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 HUPT4_PANCREAS ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 IPC298_SKIN ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 ISTMES1_PLEURA ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 J82_URINARY_TRACT ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 JHOC5_OVARY ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 JHOM1_OVARY ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 JHOM2B_OVARY ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 JHOS2_OVARY ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 JHOS4_OVARY ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 JIMT1_BREAST ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 JJN3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 JK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 JL1_PLEURA ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 JM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 JVM3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 KE39_STOMACH ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 KLE_ENDOMETRIUM ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 KMBC2_URINARY_TRACT ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 KMRC1_KIDNEY ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 KMRC2_KIDNEY ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 KMS12BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 KNS42_CENTRAL_NERVOUS_SYSTEM ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 KNS62_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 KP2_PANCREAS ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 KP3_PANCREAS ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 KP4_PANCREAS ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 KPL1_BREAST ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 KU1919_URINARY_TRACT ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 KYSE150_OESOPHAGUS ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 KYSE180_OESOPHAGUS ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 KYSE30_OESOPHAGUS ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 KYSE510_OESOPHAGUS ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 KYSE70_OESOPHAGUS ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 L33_PANCREAS ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 LCLC97TM1_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 LMSU_STOMACH ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 LN18_CENTRAL_NERVOUS_SYSTEM ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 LOUNH91_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 LS123_LARGE_INTESTINE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 LU65_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 MDAMB361_BREAST ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 MDAMB415_BREAST ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 MDAMB436_BREAST ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 ME1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 MEC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 MEG01_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 MFE280_ENDOMETRIUM ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 MINO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 MJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 MKN7_STOMACH ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 MOLP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 MONOMAC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 MSTO211H_PLEURA ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 MUTZ5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 MV411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NALM19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NCCSTCK140_STOMACH ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NCIH1092_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NCIH1105_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NCIH1184_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NCIH1339_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NCIH1341_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NCIH1437_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NCIH146_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NCIH1563_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NCIH1573_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NCIH1650_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NCIH1651_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NCIH1666_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NCIH1693_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NCIH1734_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NCIH1781_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NCIH1793_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NCIH1838_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NCIH1869_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NCIH1944_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NCIH2029_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NCIH2066_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NCIH2081_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NCIH2126_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NCIH2196_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NCIH2286_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NCIH23_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NCIH2444_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NCIH3255_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NCIH524_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NCIH526_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NCIH650_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NCIH661_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NCIH69_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NCIH841_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NCO2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NH6_AUTONOMIC_GANGLIA ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NIHOVCAR3_OVARY ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NUDUL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 NUGC4_STOMACH ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 OAW28_OVARY ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 OCIM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 ONCODG1_OVARY ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 OUMS23_LARGE_INTESTINE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 OV56_OVARY ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 OV90_OVARY ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 OVISE_OVARY ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 OVMANA_OVARY ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 OVTOKO_OVARY ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 PANC0813_PANCREAS ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 PANC1005_PANCREAS ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 PATU8902_PANCREAS ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 PECAPJ49_UPPER_AERODIGESTIVE_TRACT ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 PEER_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 PFEIFFER_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 PK45H_PANCREAS ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 PK59_PANCREAS ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 PL21_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 RCC10RGB_KIDNEY ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 RCM1_LARGE_INTESTINE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 RD_SOFT_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 RERFLCAI_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 RERFLCKJ_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 RERFLCMS_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 RERFLCSQ1_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 RH41_SOFT_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 RKN_SOFT_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 RMUGS_OVARY ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 RS5_PLEURA ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 RT4_URINARY_TRACT ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 S117_SOFT_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 SAOS2_BONE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 SCC15_UPPER_AERODIGESTIVE_TRACT ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 SCC9_UPPER_AERODIGESTIVE_TRACT ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 SCLC21H_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 SET2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 SF295_CENTRAL_NERVOUS_SYSTEM ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 SH4_SKIN ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 SHP77_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 SKBR3_BREAST ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 SKES1_BONE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 SKLMS1_SOFT_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 SKM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 SKMEL24_SKIN ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 SKMEL5_SKIN ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 SNU1041_UPPER_AERODIGESTIVE_TRACT ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 SNU1079_BILIARY_TRACT ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 SNU1105_CENTRAL_NERVOUS_SYSTEM ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 SNU1214_UPPER_AERODIGESTIVE_TRACT ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 SNU1272_KIDNEY ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 SNU182_LIVER ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 SNU213_PANCREAS ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 SNU245_BILIARY_TRACT ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 SNU308_BILIARY_TRACT ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 SNU387_LIVER ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 SNU466_CENTRAL_NERVOUS_SYSTEM ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 SNU489_CENTRAL_NERVOUS_SYSTEM ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 SNU620_STOMACH ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 SNU626_CENTRAL_NERVOUS_SYSTEM ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 SNU81_LARGE_INTESTINE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 SNU840_OVARY ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - TT rs11423561 SNU878_LIVER ENST00000403491.3:c.*205_*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 ST486_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 SUDHL5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 SW1417_LARGE_INTESTINE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 SW1783_CENTRAL_NERVOUS_SYSTEM ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 SW403_LARGE_INTESTINE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 SW480_LARGE_INTESTINE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 SW780_URINARY_TRACT ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 SW837_LARGE_INTESTINE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 SW900_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 T173_BONE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 T3M10_LUNG ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 T3M4_PANCREAS ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 T84_LARGE_INTESTINE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 TE11_OESOPHAGUS ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 TE14_OESOPHAGUS ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 TE1_OESOPHAGUS ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 TE441T_SOFT_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 TE4_OESOPHAGUS ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 TE5_OESOPHAGUS ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 TE8_OESOPHAGUS ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 TE9_OESOPHAGUS ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 TOV21G_OVARY ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 TT_OESOPHAGUS ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 TUHR4TKB_KIDNEY ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 U2OS_BONE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 UACC257_SKIN ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 UACC893_BREAST ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 UBLC1_URINARY_TRACT ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 UMUC3_URINARY_TRACT ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 VMCUB1_URINARY_TRACT ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 WM1799_SKIN ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 WM793_SKIN ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 WM88_SKIN ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 YD15_SALIVARY_GLAND ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 YD38_UPPER_AERODIGESTIVE_TRACT ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 YH13_CENTRAL_NERVOUS_SYSTEM ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 YKG1_CENTRAL_NERVOUS_SYSTEM ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 ZR751_BREAST ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921185 61921186 + 3_prime_UTR_variant 3'UTR INS - T rs11423561 ZR7530_BREAST ENST00000403491.3:c.*206dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| 1 61921186 61921186 T T AN3CA_ENDOMETRIUM FAILED | |
| 1 61921186 61921186 T T CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 61921186 61921186 T T EFO27_OVARY FAILED | |
| 1 61921186 61921186 T T EN_ENDOMETRIUM FAILED | |
| 1 61921186 61921186 T T HEC151_ENDOMETRIUM FAILED | |
| 1 61921186 61921186 T T HT115_LARGE_INTESTINE FAILED | |
| 1 61921186 61921186 T T ISHIKAWAHERAKLIO02ER_ENDOMETRIUM FAILED | |
| 1 61921186 61921186 T T KPNRTBM1_AUTONOMIC_GANGLIA FAILED | |
| 1 61921186 61921186 T T LNCAPCLONEFGC_PROSTATE FAILED | |
| 1 61921186 61921186 T T LS411N_LARGE_INTESTINE FAILED | |
| 1 61921186 61921186 T T SNGM_ENDOMETRIUM FAILED | |
| 1 61921186 61921187 TT TT 2313287_STOMACH FAILED | |
| 1 61921186 61921187 TT TT CCK81_LARGE_INTESTINE FAILED | |
| 1 61921186 61921187 TT TT COLO684_ENDOMETRIUM FAILED | |
| 1 61921186 61921187 TT TT DV90_LUNG FAILED | |
| 1 61921186 61921187 TT TT HEC108_ENDOMETRIUM FAILED | |
| 1 61921186 61921187 TT TT OVK18_OVARY FAILED | |
| 1 61921186 61921187 TT TT SNU520_STOMACH FAILED | |
| 1 61921186 61921187 TT TT SNUC4_LARGE_INTESTINE FAILED | |
| NFIA 4774 GRCh37 1 61921198 61921198 + 3_prime_UTR_variant 3'UTR SNP T A rs193301002 HEC151_ENDOMETRIUM ENST00000403491.3:c.*206T>A ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921198 61921198 + 3_prime_UTR_variant 3'UTR SNP T A rs193301002 KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000403491.3:c.*206T>A ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921198 61921199 + 3_prime_UTR_variant 3'UTR INS - A rs1553123822 COV644_OVARY ENST00000403491.3:c.*210dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| NFIA 4774 GRCh37 1 61921198 61921199 + 3_prime_UTR_variant 3'UTR INS - A rs1553123822 RERFGC1B_STOMACH ENST00000403491.3:c.*210dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| 1 61921198 61921199 TA TA SNU1_STOMACH FAILED | |
| NFIA 4774 GRCh37 1 61921198 61921199 + 3_prime_UTR_variant 3'UTR INS - A rs1553123822 TE6_OESOPHAGUS ENST00000403491.3:c.*210dup ENST00000403491 NM_001134673.3 11/11 SUCCESS | |
| 1 61921199 61921199 A A LOVO_LARGE_INTESTINE FAILED | |
| ROR1 4919 GRCh37 1 64515389 64515389 + missense_variant Missense_Mutation SNP A G rs184990049 ISHIKAWAHERAKLIO02ER_ENDOMETRIUM ENST00000371079.1:c.190A>G p.Met64Val p.M64V ENST00000371079 NM_005012.3 64 Atg/Gtg 3/9 SUCCESS | |
| ROR1 4919 GRCh37 1 64515389 64515389 + missense_variant Missense_Mutation SNP A G rs184990049 OVISE_OVARY ENST00000371079.1:c.190A>G p.Met64Val p.M64V ENST00000371079 NM_005012.3 64 Atg/Gtg 3/9 SUCCESS | |
| ROR1 4919 GRCh37 1 64515389 64515389 + missense_variant Missense_Mutation SNP A G rs184990049 OVK18_OVARY ENST00000371079.1:c.190A>G p.Met64Val p.M64V ENST00000371079 NM_005012.3 64 Atg/Gtg 3/9 SUCCESS | |
| ROR1 4919 GRCh37 1 64515471 64515471 + stop_gained Nonsense_Mutation SNP G A PECAPJ15_UPPER_AERODIGESTIVE_TRACT ENST00000371079.1:c.272G>A p.Trp91Ter p.W91* ENST00000371079 NM_005012.3 91 tGg/tAg 3/9 SUCCESS | |
| ROR1 4919 GRCh37 1 64515548 64515548 + missense_variant Missense_Mutation SNP C T rs199925889 IGROV1_OVARY ENST00000371079.1:c.349C>T p.Arg117Trp p.R117W ENST00000371079 NM_005012.3 117 Cgg/Tgg 3/9 SUCCESS | |
| ROR1 4919 GRCh37 1 64515576 64515576 + missense_variant Missense_Mutation SNP C T SNU1_STOMACH ENST00000371079.1:c.377C>T p.Thr126Ile p.T126I ENST00000371079 NM_005012.3 126 aCa/aTa 3/9 SUCCESS | |
| ROR1 4919 GRCh37 1 64603056 64603056 + missense_variant Missense_Mutation SNP G A SNU1214_UPPER_AERODIGESTIVE_TRACT ENST00000371079.1:c.487G>A p.Glu163Lys p.E163K ENST00000371079 NM_005012.3 163 Gag/Aag 5/9 SUCCESS | |
| ROR1 4919 GRCh37 1 64603123 64603123 + missense_variant Missense_Mutation SNP G A rs760676948 LS180_LARGE_INTESTINE ENST00000371079.1:c.554G>A p.Arg185His p.R185H ENST00000371079 NM_005012.3 185 cGc/cAc 5/9 SUCCESS | |
| ROR1 4919 GRCh37 1 64605849 64605849 + missense_variant Missense_Mutation SNP C T rs1230166581 SNU1040_LARGE_INTESTINE ENST00000371079.1:c.668C>T p.Ala223Val p.A223V ENST00000371079 NM_005012.3 223 gCc/gTc 6/9 SUCCESS | |
| ROR1 4919 GRCh37 1 64606019 64606019 + missense_variant Missense_Mutation SNP C T 639V_URINARY_TRACT ENST00000371079.1:c.838C>T p.Pro280Ser p.P280S ENST00000371079 NM_005012.3 280 Cca/Tca 6/9 SUCCESS | |
| ROR1 4919 GRCh37 1 64606020 64606021 + frameshift_variant Frame_Shift_Ins INS - A NCIH2286_LUNG ENST00000371079.1:c.842dup p.Asn281LysfsTer3 p.N281Kfs*3 ENST00000371079 NM_005012.3 280 cca/ccAa 6/9 SUCCESS | |
| ROR1 4919 GRCh37 1 64608111 64608111 + missense_variant Missense_Mutation SNP G T SNGM_ENDOMETRIUM ENST00000371079.1:c.952G>T p.Gly318Cys p.G318C ENST00000371079 NM_005012.3 318 Ggt/Tgt 7/9 SUCCESS | |
| ROR1 4919 GRCh37 1 64608232 64608232 + missense_variant Missense_Mutation SNP G A LS513_LARGE_INTESTINE ENST00000371079.1:c.1073G>A p.Gly358Asp p.G358D ENST00000371079 NM_005012.3 358 gGc/gAc 7/9 SUCCESS | |
| ROR1 4919 GRCh37 1 64608294 64608294 + missense_variant Missense_Mutation SNP G A rs1414634654 ISHIKAWAHERAKLIO02ER_ENDOMETRIUM ENST00000371079.1:c.1135G>A p.Glu379Lys p.E379K ENST00000371079 NM_005012.3 379 Gaa/Aaa 7/9 SUCCESS | |
| ROR1 4919 GRCh37 1 64608324 64608324 + missense_variant Missense_Mutation SNP C T rs928677318 KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000371079.1:c.1165C>T p.Pro389Ser p.P389S ENST00000371079 NM_005012.3 389 Cca/Tca 7/9 SUCCESS | |
| ROR1 4919 GRCh37 1 64608371 64608371 + intron_variant Intron SNP C A HEC251_ENDOMETRIUM ENST00000371079.1:c.1174+38C>A p.*392* ENST00000371079 NM_005012.3 SUCCESS | |
| ROR1 4919 GRCh37 1 64608393 64608393 + intron_variant Intron SNP C A rs780474380 NCIH524_LUNG ENST00000371079.1:c.1174+60C>A p.*392* ENST00000371079 NM_005012.3 SUCCESS | |
| ROR1 4919 GRCh37 1 64608464 64608464 + intron_variant Intron SNP T C rs193095463 U2OS_BONE ENST00000371079.1:c.1174+131T>C p.*392* ENST00000371079 NM_005012.3 SUCCESS | |
| ROR1 4919 GRCh37 1 64608518 64608518 + intron_variant Intron SNP G A rs150638763 HCC1195_LUNG ENST00000371079.1:c.1174+185G>A p.*392* ENST00000371079 NM_005012.3 SUCCESS | |
| ROR1 4919 GRCh37 1 64624697 64624697 + missense_variant Missense_Mutation SNP A G HT115_LARGE_INTESTINE ENST00000371079.1:c.1208A>G p.Glu403Gly p.E403G ENST00000371079 NM_005012.3 403 gAa/gGa 8/9 SUCCESS | |
| ROR1 4919 GRCh37 1 64624772 64624772 + missense_variant Missense_Mutation SNP G T NCIH1623_LUNG ENST00000371079.1:c.1283G>T p.Cys428Phe p.C428F ENST00000371079 NM_005012.3 428 tGt/tTt 8/9 SUCCESS | |
| ROR1 4919 GRCh37 1 64624775 64624775 + missense_variant Missense_Mutation SNP G A rs771229553 IGROV1_OVARY ENST00000371079.1:c.1286G>A p.Arg429Gln p.R429Q ENST00000371079 NM_005012.3 429 cGg/cAg 8/9 SUCCESS | |
| ROR1 4919 GRCh37 1 64624861 64624861 + missense_variant Missense_Mutation SNP G A AN3CA_ENDOMETRIUM ENST00000371079.1:c.1372G>A p.Ala458Thr p.A458T ENST00000371079 NM_005012.3 458 Gca/Aca 8/9 SUCCESS | |
| ROR1 4919 GRCh37 1 64643248 64643248 + missense_variant Missense_Mutation SNP G C NCIH1573_LUNG ENST00000371079.1:c.1524G>C p.Leu508Phe p.L508F ENST00000371079 NM_005012.3 508 ttG/ttC 9/9 SUCCESS | |
| ROR1 4919 GRCh37 1 64643327 64643327 + missense_variant Missense_Mutation SNP A G GP2D_LARGE_INTESTINE ENST00000371079.1:c.1603A>G p.Ile535Val p.I535V ENST00000371079 NM_005012.3 535 Att/Gtt 9/9 SUCCESS | |
| ROR1 4919 GRCh37 1 64643434 64643434 + missense_variant Missense_Mutation SNP C G DEL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000371079.1:c.1710C>G p.His570Gln p.H570Q ENST00000371079 NM_005012.3 570 caC/caG 9/9 SUCCESS | |
| ROR1 4919 GRCh37 1 64643534 64643534 + missense_variant Missense_Mutation SNP G A HSC3_UPPER_AERODIGESTIVE_TRACT ENST00000371079.1:c.1810G>A p.Glu604Lys p.E604K ENST00000371079 NM_005012.3 604 Gaa/Aaa 9/9 SUCCESS | |
| ROR1 4919 GRCh37 1 64643997 64643997 + missense_variant Missense_Mutation SNP C T WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000371079.1:c.2273C>T p.Ser758Phe p.S758F ENST00000371079 NM_005012.3 758 tCt/tTt 9/9 SUCCESS | |
| ROR1 4919 GRCh37 1 64644017 64644017 + missense_variant Missense_Mutation SNP A C rs959492533 K562_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000371079.1:c.2293A>C p.Asn765His p.N765H ENST00000371079 NM_005012.3 765 Aat/Cat 9/9 SUCCESS | |
| ROR1 4919 GRCh37 1 64644121 64644121 + missense_variant Missense_Mutation SNP G T SNUC5_LARGE_INTESTINE ENST00000371079.1:c.2397G>T p.Gln799His p.Q799H ENST00000371079 NM_005012.3 799 caG/caT 9/9 SUCCESS | |
| ROR1 4919 GRCh37 1 64644203 64644203 + stop_gained Nonsense_Mutation SNP G T CORL47_LUNG ENST00000371079.1:c.2479G>T p.Gly827Ter p.G827* ENST00000371079 NM_005012.3 827 Gga/Tga 9/9 SUCCESS | |
| ROR1 4919 GRCh37 1 64644333 64644333 + missense_variant Missense_Mutation SNP G T HCT15_LARGE_INTESTINE ENST00000371079.1:c.2609G>T p.Ser870Ile p.S870I ENST00000371079 NM_005012.3 870 aGc/aTc 9/9 SUCCESS | |
| ROR1 4919 GRCh37 1 64644342 64644342 + stop_gained Nonsense_Mutation SNP C A NCIH1435_LUNG ENST00000371079.1:c.2618C>A p.Ser873Ter p.S873* ENST00000371079 NM_005012.3 873 tCa/tAa 9/9 SUCCESS | |
| ROR1 4919 GRCh37 1 64644361 64644361 + missense_variant Missense_Mutation SNP A C SNU719_STOMACH ENST00000371079.1:c.2637A>C p.Glu879Asp p.E879D ENST00000371079 NM_005012.3 879 gaA/gaC 9/9 SUCCESS | |
| ROR1 4919 GRCh37 1 64644438 64644438 + missense_variant Missense_Mutation SNP A C JHUEM7_ENDOMETRIUM ENST00000371079.1:c.2714A>C p.Lys905Thr p.K905T ENST00000371079 NM_005012.3 905 aAa/aCa 9/9 SUCCESS | |
| ROR1 4919 GRCh37 1 64644491 64644491 + missense_variant Missense_Mutation SNP G A rs751628611 ECC12_STOMACH ENST00000371079.1:c.2767G>A p.Ala923Thr p.A923T ENST00000371079 NM_005012.3 923 Gcc/Acc 9/9 SUCCESS | |
| ROR1 4919 GRCh37 1 64644574 64644574 + 3_prime_UTR_variant 3'UTR SNP A G RI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000371079.1:c.*36A>G ENST00000371079 NM_005012.3 9/9 SUCCESS | |
| ROR1 4919 GRCh37 1 64644595 64644595 + 3_prime_UTR_variant 3'UTR SNP A G NCIH196_LUNG ENST00000371079.1:c.*57A>G ENST00000371079 NM_005012.3 9/9 SUCCESS | |
| ROR1 4919 GRCh37 1 64644625 64644625 + 3_prime_UTR_variant 3'UTR SNP G T NCIH1573_LUNG ENST00000371079.1:c.*87G>T ENST00000371079 NM_005012.3 9/9 SUCCESS | |
| ROR1 4919 GRCh37 1 64644641 64644641 + 3_prime_UTR_variant 3'UTR SNP A G SNU1040_LARGE_INTESTINE ENST00000371079.1:c.*103A>G ENST00000371079 NM_005012.3 9/9 SUCCESS | |
| 1 64644707 64644707 G G A549_LUNG FAILED | |
| JAK1 3716 GRCh37 1 65300158 65300158 + 3_prime_UTR_variant 3'UTR SNP C G TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000342505.4:c.*87G>C ENST00000342505 NM_002227.2 25/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65300162 65300162 + 3_prime_UTR_variant 3'UTR SNP A C JHUEM7_ENDOMETRIUM ENST00000342505.4:c.*83T>G ENST00000342505 NM_002227.2 25/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65301110 65301110 + missense_variant Missense_Mutation SNP C T rs774820863 639V_URINARY_TRACT ENST00000342505.4:c.3338G>A p.Arg1113His p.R1113H ENST00000342505 NM_002227.2 1113 cGc/cAc 24/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65301888 65301888 + missense_variant Missense_Mutation SNP C G HT55_LARGE_INTESTINE ENST00000342505.4:c.3151G>C p.Glu1051Gln p.E1051Q ENST00000342505 NM_002227.2 1051 Gaa/Caa 23/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65303789 65303789 + splice_acceptor_variant Splice_Site SNP T C MFE319_ENDOMETRIUM ENST00000342505.4:c.2968-2A>G p.X990_splice ENST00000342505 NM_002227.2 990 SUCCESS | |
| JAK1 3716 GRCh37 1 65304170 65304170 + missense_variant Missense_Mutation SNP T G EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000342505.4:c.2945A>C p.Lys982Thr p.K982T ENST00000342505 NM_002227.2 982 aAa/aCa 21/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65304218 65304218 + missense_variant Missense_Mutation SNP T A HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000342505.4:c.2897A>T p.Glu966Val p.E966V ENST00000342505 NM_002227.2 966 gAa/gTa 21/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65305286 65305286 + missense_variant,splice_region_variant Missense_Mutation SNP C T SW1116_LARGE_INTESTINE ENST00000342505.4:c.2842G>A p.Gly948Arg p.G948R ENST00000342505 NM_002227.2 948 Gga/Aga 20/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65305300 65305300 + missense_variant Missense_Mutation SNP A T CW2_LARGE_INTESTINE ENST00000342505.4:c.2828T>A p.Ile943Asn p.I943N ENST00000342505 NM_002227.2 943 aTc/aAc 20/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65305313 65305313 + missense_variant Missense_Mutation SNP T C CAL51_BREAST ENST00000342505.4:c.2815A>G p.Lys939Glu p.K939E ENST00000342505 NM_002227.2 939 Aag/Gag 20/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65305315 65305315 + missense_variant Missense_Mutation SNP A G CCK81_LARGE_INTESTINE ENST00000342505.4:c.2813T>C p.Val938Ala p.V938A ENST00000342505 NM_002227.2 938 gTg/gCg 20/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65305345 65305345 + missense_variant Missense_Mutation SNP A G KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000342505.4:c.2783T>C p.Ile928Thr p.I928T ENST00000342505 NM_002227.2 928 aTc/aCc 20/25 SUCCESS | |
| 1 65305357 65305357 T T RL952_ENDOMETRIUM FAILED | |
| JAK1 3716 GRCh37 1 65305405 65305405 + missense_variant Missense_Mutation SNP T G HEC251_ENDOMETRIUM ENST00000342505.4:c.2723A>C p.Lys908Thr p.K908T ENST00000342505 NM_002227.2 908 aAa/aCa 20/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65305411 65305411 + missense_variant Missense_Mutation SNP G A SNU1040_LARGE_INTESTINE ENST00000342505.4:c.2717C>T p.Ala906Val p.A906V ENST00000342505 NM_002227.2 906 gCt/gTt 20/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65306942 65306942 + missense_variant Missense_Mutation SNP G A rs776082057 MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000342505.4:c.2635C>T p.Arg879Cys p.R879C ENST00000342505 NM_002227.2 879 Cgt/Tgt 19/25 SUCCESS | |
| 1 65306997 65306997 T T CAL51_BREAST FAILED | |
| 1 65306997 65306997 T T HEC108_ENDOMETRIUM FAILED | |
| 1 65306997 65306997 T T HEC265_ENDOMETRIUM FAILED | |
| 1 65306997 65306997 T T IGROV1_OVARY FAILED | |
| 1 65306997 65306997 T T ISHIKAWAHERAKLIO02ER_ENDOMETRIUM FAILED | |
| 1 65306997 65306997 T T JHUEM1_ENDOMETRIUM FAILED | |
| 1 65306997 65306997 T T MFE296_ENDOMETRIUM FAILED | |
| 1 65306997 65306997 T T RL952_ENDOMETRIUM FAILED | |
| 1 65306997 65306997 T T SNU1_STOMACH FAILED | |
| 1 65306997 65306997 T T TOV21G_OVARY FAILED | |
| JAK1 3716 GRCh37 1 65307190 65307190 + missense_variant Missense_Mutation SNP T C rs187043211 HCC95_LUNG ENST00000342505.4:c.2498A>G p.Asn833Ser p.N833S ENST00000342505 NM_002227.2 833 aAt/aGt 18/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65309754 65309754 + missense_variant Missense_Mutation SNP A G EN_ENDOMETRIUM ENST00000342505.4:c.2396T>C p.Leu799Pro p.L799P ENST00000342505 NM_002227.2 799 cTg/cCg 17/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65309855 65309855 + synonymous_variant Silent SNP C T BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000342505.4:c.2295G>A p.Glu765= p.E765= ENST00000342505 NM_002227.2 765 gaG/gaA 17/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65310437 65310437 + missense_variant,splice_region_variant Missense_Mutation SNP C T rs1185371179 HEC251_ENDOMETRIUM ENST00000342505.4:c.2251G>A p.Glu751Lys p.E751K ENST00000342505 NM_002227.2 751 Gaa/Aaa 16/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65311270 65311270 + missense_variant Missense_Mutation SNP G A LS180_LARGE_INTESTINE ENST00000342505.4:c.2041C>T p.Arg681Trp p.R681W ENST00000342505 NM_002227.2 681 Cgg/Tgg 15/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65312347 65312347 + missense_variant Missense_Mutation SNP C A rs1057519753 OCIM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000342505.4:c.1972G>T p.Val658Phe p.V658F ENST00000342505 NM_002227.2 658 Gtc/Ttc 14/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65312350 65312350 + missense_variant Missense_Mutation SNP A G EN_ENDOMETRIUM ENST00000342505.4:c.1969T>C p.Cys657Arg p.C657R ENST00000342505 NM_002227.2 657 Tgt/Cgt 14/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65312358 65312358 + missense_variant Missense_Mutation SNP T A HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000342505.4:c.1961A>T p.Tyr654Phe p.Y654F ENST00000342505 NM_002227.2 654 tAt/tTt 14/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65313286 65313286 + stop_gained Nonsense_Mutation SNP C A HEC251_ENDOMETRIUM ENST00000342505.4:c.1828G>T p.Gly610Ter p.G610* ENST00000342505 NM_002227.2 610 Gga/Tga 13/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65316512 65316512 + missense_variant Missense_Mutation SNP C T HEC6_ENDOMETRIUM ENST00000342505.4:c.1730G>A p.Arg577Gln p.R577Q ENST00000342505 NM_002227.2 577 cGg/cAg 12/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65321242 65321242 + missense_variant Missense_Mutation SNP G A rs761801070 MDAPCA2B_PROSTATE ENST00000342505.4:c.1598C>T p.Thr533Met p.T533M ENST00000342505 NM_002227.2 533 aCg/aTg 11/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65321267 65321267 + missense_variant Missense_Mutation SNP G A NCIH1793_LUNG ENST00000342505.4:c.1573C>T p.His525Tyr p.H525Y ENST00000342505 NM_002227.2 525 Cac/Tac 11/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65321308 65321308 + missense_variant Missense_Mutation SNP C T HEC151_ENDOMETRIUM ENST00000342505.4:c.1532G>A p.Gly511Asp p.G511D ENST00000342505 NM_002227.2 511 gGt/gAt 11/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65325786 65325786 + splice_donor_variant Splice_Site SNP A G PK45H_PANCREAS ENST00000342505.4:c.1334+2T>C p.X445_splice ENST00000342505 NM_002227.2 445 SUCCESS | |
| JAK1 3716 GRCh37 1 65325832 65325833 + frameshift_variant Frame_Shift_Ins INS - G rs755650243 HEC265_ENDOMETRIUM ENST00000342505.4:c.1289dup p.Leu431ValfsTer22 p.L431Vfs*22 ENST00000342505 NM_002227.2 430 ccg/ccCg 9/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65325832 65325833 + frameshift_variant Frame_Shift_Ins INS - G rs755650243 LNCAPCLONEFGC_PROSTATE ENST00000342505.4:c.1289dup p.Leu431ValfsTer22 p.L431Vfs*22 ENST00000342505 NM_002227.2 430 ccg/ccCg 9/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65325832 65325833 + frameshift_variant Frame_Shift_Ins INS - G rs755650243 MFE319_ENDOMETRIUM ENST00000342505.4:c.1289dup p.Leu431ValfsTer22 p.L431Vfs*22 ENST00000342505 NM_002227.2 430 ccg/ccCg 9/25 SUCCESS | |
| 1 65325833 65325833 G G HEC1B_ENDOMETRIUM FAILED | |
| JAK1 3716 GRCh37 1 65325840 65325840 + missense_variant Missense_Mutation SNP C G CW2_LARGE_INTESTINE ENST00000342505.4:c.1282G>C p.Ala428Pro p.A428P ENST00000342505 NM_002227.2 428 Gcc/Ccc 9/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65325855 65325855 + missense_variant Missense_Mutation SNP G C NCIH2066_LUNG ENST00000342505.4:c.1267C>G p.Leu423Val p.L423V ENST00000342505 NM_002227.2 423 Ctc/Gtc 9/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65330499 65330499 + missense_variant Missense_Mutation SNP T C rs201432491 HCC4006_LUNG ENST00000342505.4:c.1147A>G p.Ser383Gly p.S383G ENST00000342505 NM_002227.2 383 Agc/Ggc 8/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65330610 65330611 + frameshift_variant Frame_Shift_Ins INS - T JHUEM1_ENDOMETRIUM ENST00000342505.4:c.1035dup p.Leu346ThrfsTer4 p.L346Tfs*4 ENST00000342505 NM_002227.2 345 -/A 8/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65330618 65330618 + missense_variant Missense_Mutation SNP C T rs958983466 SW1417_LARGE_INTESTINE ENST00000342505.4:c.1028G>A p.Arg343Gln p.R343Q ENST00000342505 NM_002227.2 343 cGg/cAg 8/25 SUCCESS | |
| 1 65330630 65330630 T T TOV21G_OVARY FAILED | |
| JAK1 3716 GRCh37 1 65332695 65332695 + missense_variant Missense_Mutation SNP C A CW2_LARGE_INTESTINE ENST00000342505.4:c.844G>T p.Gly282Cys p.G282C ENST00000342505 NM_002227.2 282 Ggt/Tgt 7/25 SUCCESS | |
| 1 65332803 65332803 C C SNUC2A_LARGE_INTESTINE FAILED | |
| JAK1 3716 GRCh37 1 65332836 65332836 + missense_variant Missense_Mutation SNP G C KNS60_CENTRAL_NERVOUS_SYSTEM ENST00000342505.4:c.703C>G p.Leu235Val p.L235V ENST00000342505 NM_002227.2 235 Ctc/Gtc 7/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65332856 65332856 + missense_variant Missense_Mutation SNP G C RS5_PLEURA ENST00000342505.4:c.683C>G p.Ser228Cys p.S228C ENST00000342505 NM_002227.2 228 tCc/tGc 7/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65332862 65332862 + missense_variant Missense_Mutation SNP T C rs759274901 SNU1105_CENTRAL_NERVOUS_SYSTEM ENST00000342505.4:c.677A>G p.Asn226Ser p.N226S ENST00000342505 NM_002227.2 226 aAt/aGt 7/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65332862 65332862 + missense_variant Missense_Mutation SNP T C rs759274901 SQ1_LUNG ENST00000342505.4:c.677A>G p.Asn226Ser p.N226S ENST00000342505 NM_002227.2 226 aAt/aGt 7/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65335144 65335144 + missense_variant Missense_Mutation SNP A G SNU1040_LARGE_INTESTINE ENST00000342505.4:c.497T>C p.Leu166Ser p.L166S ENST00000342505 NM_002227.2 166 tTg/tCg 6/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65339055 65339055 + stop_gained,splice_region_variant Nonsense_Mutation SNP G A NCIH1563_LUNG ENST00000342505.4:c.481C>T p.Gln161Ter p.Q161* ENST00000342505 NM_002227.2 161 Cag/Tag 5/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65339110 65339111 + frameshift_variant Frame_Shift_Ins INS - T EN_ENDOMETRIUM ENST00000342505.4:c.425dup p.Ile143AspfsTer9 p.I143Dfs*9 ENST00000342505 NM_002227.2 142 aag/aaAg 5/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65339110 65339111 + frameshift_variant Frame_Shift_Ins INS - T MFE319_ENDOMETRIUM ENST00000342505.4:c.425dup p.Ile143AspfsTer9 p.I143Dfs*9 ENST00000342505 NM_002227.2 142 aag/aaAg 5/25 SUCCESS | |
| 1 65339111 65339111 T T 22RV1_PROSTATE FAILED | |
| 1 65339111 65339111 T T HEC151_ENDOMETRIUM FAILED | |
| 1 65339111 65339111 T T LNCAPCLONEFGC_PROSTATE FAILED | |
| JAK1 3716 GRCh37 1 65344792 65344792 + missense_variant Missense_Mutation SNP T G EN_ENDOMETRIUM ENST00000342505.4:c.245A>C p.Asp82Ala p.D82A ENST00000342505 NM_002227.2 82 gAc/gCc 4/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65348981 65348981 + missense_variant Missense_Mutation SNP T C rs202021264 NCIH1915_LUNG ENST00000342505.4:c.184A>G p.Ile62Val p.I62V ENST00000342505 NM_002227.2 62 Atc/Gtc 3/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65351955 65351955 + 5_prime_UTR_variant 5'UTR SNP G T HGC27_STOMACH ENST00000342505.4:c.-8C>A p.*3* ENST00000342505 NM_002227.2 2/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65351985 65351985 + 5_prime_UTR_variant 5'UTR SNP G A COLO783_SKIN ENST00000342505.4:c.-38C>T p.*13* ENST00000342505 NM_002227.2 2/25 SUCCESS | |
| JAK1 3716 GRCh37 1 65352024 65352024 + splice_region_variant,5_prime_UTR_variant Splice_Region SNP G A rs377245647 SNU1040_LARGE_INTESTINE ENST00000342505.4:c.-77C>T p.X26_splice ENST00000342505 NM_002227.2 26 2/25 SUCCESS | |
| GADD45A 1647 GRCh37 1 68151073 68151073 + 5_prime_UTR_variant 5'UTR SNP A T EFO27_OVARY ENST00000370986.4:c.-105A>T p.*35* ENST00000370986 NM_001924.3 1/4 SUCCESS | |
| GADD45A 1647 GRCh37 1 68151118 68151118 + 5_prime_UTR_variant 5'UTR SNP G A MDAPCA2B_PROSTATE ENST00000370986.4:c.-60G>A p.*20* ENST00000370986 NM_001924.3 1/4 SUCCESS | |
| GADD45A 1647 GRCh37 1 68151740 68151740 + missense_variant Missense_Mutation SNP T C HEC59_ENDOMETRIUM ENST00000370986.4:c.77T>C p.Val26Ala p.V26A ENST00000370986 NM_001924.3 26 gTg/gCg 2/4 SUCCESS | |
| GADD45A 1647 GRCh37 1 68151760 68151760 + missense_variant Missense_Mutation SNP C G rs776252488 NCIH2029_LUNG ENST00000370986.4:c.97C>G p.Gln33Glu p.Q33E ENST00000370986 NM_001924.3 33 Cag/Gag 2/4 SUCCESS | |
| GADD45A 1647 GRCh37 1 68153350 68153350 + missense_variant Missense_Mutation SNP C T SW48_LARGE_INTESTINE ENST00000370986.4:c.391C>T p.His131Tyr p.H131Y ENST00000370986 NM_001924.3 131 Cat/Tat 4/4 SUCCESS | |
| GADD45A 1647 GRCh37 1 68153471 68153471 + 3_prime_UTR_variant 3'UTR SNP A G BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000370986.4:c.*14A>G ENST00000370986 NM_001924.3 4/4 SUCCESS | |
| GADD45A 1647 GRCh37 1 68153536 68153536 + 3_prime_UTR_variant 3'UTR SNP C T NMCG1_CENTRAL_NERVOUS_SYSTEM ENST00000370986.4:c.*79C>T ENST00000370986 NM_001924.3 4/4 SUCCESS | |
| GNG12-AS1 100289178 GRCh37 1 68564192 68564192 + intron_variant,non_coding_transcript_variant Intron SNP C A HUH28_BILIARY_TRACT ENST00000420587.1:n.326-134C>A p.*109* ENST00000420587 SUCCESS | |
| GNG12-AS1 100289178 GRCh37 1 68564216 68564216 + intron_variant,non_coding_transcript_variant Intron SNP A C RKO_LARGE_INTESTINE ENST00000420587.1:n.326-110A>C p.*109* ENST00000420587 SUCCESS | |
| GNG12-AS1 100289178 GRCh37 1 68564392 68564392 + non_coding_transcript_exon_variant RNA SNP C G rs183122334 CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000420587.1:n.392C>G p.*131* ENST00000420587 4/10 SUCCESS | |
| GNG12-AS1 100289178 GRCh37 1 68564392 68564392 + non_coding_transcript_exon_variant RNA SNP C G rs183122334 SBC5_LUNG ENST00000420587.1:n.392C>G p.*131* ENST00000420587 4/10 SUCCESS | |
| GNG12-AS1 100289178 GRCh37 1 68564392 68564392 + non_coding_transcript_exon_variant RNA SNP C G rs183122334 SNU283_LARGE_INTESTINE ENST00000420587.1:n.392C>G p.*131* ENST00000420587 4/10 SUCCESS | |
| GNG12-AS1 100289178 GRCh37 1 68564392 68564392 + non_coding_transcript_exon_variant RNA SNP C G rs183122334 SNU520_STOMACH ENST00000420587.1:n.392C>G p.*131* ENST00000420587 4/10 SUCCESS | |
| GNG12-AS1 100289178 GRCh37 1 68564412 68564412 + non_coding_transcript_exon_variant RNA SNP C A HEC265_ENDOMETRIUM ENST00000420587.1:n.412C>A p.*138* ENST00000420587 4/10 SUCCESS | |
| WLS 79971 GRCh37 1 68591775 68591775 + 3_prime_UTR_variant 3'UTR SNP C A LNCAPCLONEFGC_PROSTATE ENST00000262348.4:c.*134G>T ENST00000262348 NM_024911.6 12/12 SUCCESS | |
| WLS 79971 GRCh37 1 68592001 68592001 + missense_variant Missense_Mutation SNP T C NCIH526_LUNG ENST00000262348.4:c.1534A>G p.Ser512Gly p.S512G ENST00000262348 NM_024911.6 512 Agt/Ggt 12/12 SUCCESS | |
| WLS 79971 GRCh37 1 68603574 68603574 + missense_variant Missense_Mutation SNP C T rs754765677 SNU201_CENTRAL_NERVOUS_SYSTEM ENST00000262348.4:c.1405G>A p.Val469Met p.V469M ENST00000262348 NM_024911.6 469 Gtg/Atg 11/12 SUCCESS | |
| WLS 79971 GRCh37 1 68603580 68603580 + missense_variant Missense_Mutation SNP C A NCIH2110_LUNG ENST00000262348.4:c.1399G>T p.Val467Phe p.V467F ENST00000262348 NM_024911.6 467 Gtc/Ttc 11/12 SUCCESS | |
| WLS 79971 GRCh37 1 68610314 68610314 + missense_variant Missense_Mutation SNP A G DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000262348.4:c.1300T>C p.Phe434Leu p.F434L ENST00000262348 NM_024911.6 434 Ttc/Ctc 10/12 SUCCESS | |
| WLS 79971 GRCh37 1 68611617 68611617 + missense_variant Missense_Mutation SNP G C NCIH929_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000262348.4:c.1213C>G p.Arg405Gly p.R405G ENST00000262348 NM_024911.6 405 Cgg/Ggg 9/12 SUCCESS | |
| WLS 79971 GRCh37 1 68613835 68613835 + missense_variant Missense_Mutation SNP A G rs746256483 IPC298_SKIN ENST00000262348.4:c.1118T>C p.Ile373Thr p.I373T ENST00000262348 NM_024911.6 373 aTt/aCt 8/12 SUCCESS | |
| WLS 79971 GRCh37 1 68614271 68614271 + missense_variant Missense_Mutation SNP G C JM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000262348.4:c.1045C>G p.Leu349Val p.L349V ENST00000262348 NM_024911.6 349 Ctc/Gtc 7/12 SUCCESS | |
| WLS 79971 GRCh37 1 68614279 68614279 + missense_variant Missense_Mutation SNP G A rs761809939 SNU601_STOMACH ENST00000262348.4:c.1037C>T p.Ser346Phe p.S346F ENST00000262348 NM_024911.6 346 tCc/tTc 7/12 SUCCESS | |
| WLS 79971 GRCh37 1 68619216 68619216 + missense_variant Missense_Mutation SNP G C NCIH661_LUNG ENST00000262348.4:c.787C>G p.Pro263Ala p.P263A ENST00000262348 NM_024911.6 263 Cca/Gca 5/12 SUCCESS | |
| WLS 79971 GRCh37 1 68619297 68619297 + missense_variant Missense_Mutation SNP C A HCC202_BREAST ENST00000262348.4:c.706G>T p.Ala236Ser p.A236S ENST00000262348 NM_024911.6 236 Gcc/Tcc 5/12 SUCCESS | |
| WLS 79971 GRCh37 1 68619301 68619301 + missense_variant Missense_Mutation SNP C G rs566622107 NCIH1836_LUNG ENST00000262348.4:c.702G>C p.Trp234Cys p.W234C ENST00000262348 NM_024911.6 234 tgG/tgC 5/12 SUCCESS | |
| WLS 79971 GRCh37 1 68620850 68620850 + missense_variant Missense_Mutation SNP G A rs775625231 SW48_LARGE_INTESTINE ENST00000262348.4:c.598C>T p.Arg200Trp p.R200W ENST00000262348 NM_024911.6 200 Cgg/Tgg 4/12 SUCCESS | |
| WLS 79971 GRCh37 1 68624819 68624819 + missense_variant Missense_Mutation SNP A G MDAPCA2B_PROSTATE ENST00000262348.4:c.491T>C p.Phe164Ser p.F164S ENST00000262348 NM_024911.6 164 tTc/tCc 3/12 SUCCESS | |
| WLS 79971 GRCh37 1 68624837 68624837 + missense_variant Missense_Mutation SNP C T rs370140589 2313287_STOMACH ENST00000262348.4:c.473G>A p.Arg158Gln p.R158Q ENST00000262348 NM_024911.6 158 cGg/cAg 3/12 SUCCESS | |
| WLS 79971 GRCh37 1 68624841 68624841 + missense_variant Missense_Mutation SNP G C LS411N_LARGE_INTESTINE ENST00000262348.4:c.469C>G p.Pro157Ala p.P157A ENST00000262348 NM_024911.6 157 Cca/Gca 3/12 SUCCESS | |
| WLS 79971 GRCh37 1 68624859 68624859 + missense_variant Missense_Mutation SNP T C TGBC11TKB_STOMACH ENST00000262348.4:c.451A>G p.Met151Val p.M151V ENST00000262348 NM_024911.6 151 Atg/Gtg 3/12 SUCCESS | |
| WLS 79971 GRCh37 1 68624862 68624862 + missense_variant Missense_Mutation SNP C G NCIH1563_LUNG ENST00000262348.4:c.448G>C p.Glu150Gln p.E150Q ENST00000262348 NM_024911.6 150 Gaa/Caa 3/12 SUCCESS | |
| WLS 79971 GRCh37 1 68659579 68659579 + intron_variant Intron SNP G T JHUEM7_ENDOMETRIUM ENST00000262348.4:c.379+59C>A p.*127* ENST00000262348 NM_024911.6 SUCCESS | |
| WLS 79971 GRCh37 1 68697989 68697990 + 5_prime_UTR_variant 5'UTR INS - C rs564442210 MDAMB134VI_BREAST ENST00000262348.4:c.-8dup p.*3* ENST00000262348 NM_024911.6 1/12 SUCCESS | |
| WLS 79971 GRCh37 1 68697989 68697990 + 5_prime_UTR_variant 5'UTR INS - C rs564442210 RKO_LARGE_INTESTINE ENST00000262348.4:c.-8dup p.*3* ENST00000262348 NM_024911.6 1/12 SUCCESS | |
| 1 68697990 68697990 C C OVK18_OVARY FAILED | |
| WLS 79971 GRCh37 1 68697996 68697996 + 5_prime_UTR_variant 5'UTR SNP C T DU145_PROSTATE ENST00000262348.4:c.-14G>A p.*5* ENST00000262348 NM_024911.6 1/12 SUCCESS | |
| 1 68698043 68698043 T T HUT102_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| WLS 79971 GRCh37 1 68698045 68698045 + 5_prime_UTR_variant 5'UTR SNP C T rs186920207 SNU886_LIVER ENST00000262348.4:c.-63G>A p.*21* ENST00000262348 NM_024911.6 1/12 SUCCESS | |
| 1 68698078 68698081 CTTT CTTT DM3_PLEURA FAILED | |
| WLS 79971 GRCh37 1 68698080 68698080 + 5_prime_UTR_variant 5'UTR SNP T C rs923956037 OE33_OESOPHAGUS ENST00000262348.4:c.-98A>G p.*33* ENST00000262348 NM_024911.6 1/12 SUCCESS | |
| WLS 79971 GRCh37 1 68698151 68698151 + 5_prime_UTR_variant 5'UTR SNP C A rs533877091 HLFA_LUNG ENST00000262348.4:c.-169G>T p.*57* ENST00000262348 NM_024911.6 1/12 SUCCESS | |
| LRRC7 57554 GRCh37 1 70225900 70225900 + missense_variant Missense_Mutation SNP C T rs150507629 HCC4006_LUNG ENST00000035383.5:c.13C>T p.Arg5Trp p.R5W ENST00000035383 NM_020794.2 5 Cgg/Tgg 1/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70225950 70225950 + missense_variant Missense_Mutation SNP A C NCIH1963_LUNG ENST00000035383.5:c.63A>C p.Glu21Asp p.E21D ENST00000035383 NM_020794.2 21 gaA/gaC 1/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70225978 70225978 + missense_variant Missense_Mutation SNP C A MALME3M_SKIN ENST00000035383.5:c.91C>A p.His31Asn p.H31N ENST00000035383 NM_020794.2 31 Cac/Aac 1/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70226019 70226019 + synonymous_variant Silent SNP C T rs200701056 HEC251_ENDOMETRIUM ENST00000035383.5:c.132C>T p.Phe44= p.F44= ENST00000035383 NM_020794.2 44 ttC/ttT 1/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70226020 70226020 + missense_variant Missense_Mutation SNP G A HCC2279_LUNG ENST00000035383.5:c.133G>A p.Glu45Lys p.E45K ENST00000035383 NM_020794.2 45 Gaa/Aaa 1/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70257743 70257743 + synonymous_variant Silent SNP A G CCK81_LARGE_INTESTINE ENST00000035383.5:c.207A>G p.Gln69= p.Q69= ENST00000035383 NM_020794.2 69 caA/caG 2/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70257774 70257774 + missense_variant Missense_Mutation SNP G C NCIH2126_LUNG ENST00000035383.5:c.238G>C p.Asp80His p.D80H ENST00000035383 NM_020794.2 80 Gac/Cac 2/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70257805 70257805 + missense_variant Missense_Mutation SNP G A SJSA1_BONE ENST00000035383.5:c.269G>A p.Ser90Asn p.S90N ENST00000035383 NM_020794.2 90 aGt/aAt 2/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70257818 70257818 + synonymous_variant Silent SNP T C SNU81_LARGE_INTESTINE ENST00000035383.5:c.282T>C p.Leu94= p.L94= ENST00000035383 NM_020794.2 94 ctT/ctC 2/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70257822 70257822 + stop_gained Nonsense_Mutation SNP G T NCIH510_LUNG ENST00000035383.5:c.286G>T p.Glu96Ter p.E96* ENST00000035383 NM_020794.2 96 Gaa/Taa 2/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70291477 70291477 + synonymous_variant Silent SNP A C BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000035383.5:c.354A>C p.Thr118= p.T118= ENST00000035383 NM_020794.2 118 acA/acC 3/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70291480 70291480 + synonymous_variant Silent SNP T A BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000035383.5:c.357T>A p.Ile119= p.I119= ENST00000035383 NM_020794.2 119 atT/atA 3/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70291496 70291496 + missense_variant Missense_Mutation SNP A G TGBC11TKB_STOMACH ENST00000035383.5:c.373A>G p.Asn125Asp p.N125D ENST00000035383 NM_020794.2 125 Aat/Gat 3/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70291500 70291500 + missense_variant Missense_Mutation SNP C T KYSE140_OESOPHAGUS ENST00000035383.5:c.377C>T p.Pro126Leu p.P126L ENST00000035383 NM_020794.2 126 cCc/cTc 3/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70291506 70291506 + missense_variant Missense_Mutation SNP C A SNU81_LARGE_INTESTINE ENST00000035383.5:c.383C>A p.Ser128Tyr p.S128Y ENST00000035383 NM_020794.2 128 tCt/tAt 3/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70300466 70300466 + synonymous_variant Silent SNP A G GP2D_LARGE_INTESTINE ENST00000035383.5:c.390A>G p.Leu130= p.L130= ENST00000035383 NM_020794.2 130 ctA/ctG 4/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70300472 70300472 + synonymous_variant Silent SNP T C rs775717375 A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000035383.5:c.396T>C p.Asp132= p.D132= ENST00000035383 NM_020794.2 132 gaT/gaC 4/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70300490 70300490 + synonymous_variant Silent SNP A G HEC59_ENDOMETRIUM ENST00000035383.5:c.414A>G p.Leu138= p.L138= ENST00000035383 NM_020794.2 138 ctA/ctG 4/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70300497 70300497 + missense_variant Missense_Mutation SNP A G RKO_LARGE_INTESTINE ENST00000035383.5:c.421A>G p.Thr141Ala p.T141A ENST00000035383 NM_020794.2 141 Acc/Gcc 4/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70303916 70303916 + synonymous_variant Silent SNP C A GCT_SOFT_TISSUE ENST00000035383.5:c.483C>A p.Val161= p.V161= ENST00000035383 NM_020794.2 161 gtC/gtA 5/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70303923 70303923 + synonymous_variant Silent SNP C A rs375015731 NCIH446_LUNG ENST00000035383.5:c.490C>A p.Arg164= p.R164= ENST00000035383 NM_020794.2 164 Cgg/Agg 5/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70303924 70303924 + missense_variant Missense_Mutation SNP G A rs202175098 SNU1040_LARGE_INTESTINE ENST00000035383.5:c.491G>A p.Arg164Gln p.R164Q ENST00000035383 NM_020794.2 164 cGg/cAg 5/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70397206 70397206 + missense_variant Missense_Mutation SNP G A rs754394114 HEC1A_ENDOMETRIUM ENST00000035383.5:c.550G>A p.Ala184Thr p.A184T ENST00000035383 NM_020794.2 184 Gcc/Acc 6/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70397206 70397206 + missense_variant Missense_Mutation SNP G A rs754394114 HEC1B_ENDOMETRIUM ENST00000035383.5:c.550G>A p.Ala184Thr p.A184T ENST00000035383 NM_020794.2 184 Gcc/Acc 6/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70397239 70397239 + missense_variant Missense_Mutation SNP G A SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000035383.5:c.583G>A p.Glu195Lys p.E195K ENST00000035383 NM_020794.2 195 Gaa/Aaa 6/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70397244 70397244 + synonymous_variant Silent SNP C T rs752776916 HS840T_UPPER_AERODIGESTIVE_TRACT ENST00000035383.5:c.588C>T p.Phe196= p.F196= ENST00000035383 NM_020794.2 196 ttC/ttT 6/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70451933 70451933 + synonymous_variant Silent SNP G A HEC251_ENDOMETRIUM ENST00000035383.5:c.681G>A p.Gly227= p.G227= ENST00000035383 NM_020794.2 227 ggG/ggA 8/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70451934 70451934 + missense_variant Missense_Mutation SNP A G HEC1B_ENDOMETRIUM ENST00000035383.5:c.682A>G p.Lys228Glu p.K228E ENST00000035383 NM_020794.2 228 Aag/Gag 8/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70451960 70451960 + missense_variant Missense_Mutation SNP T A NCIH1944_LUNG ENST00000035383.5:c.708T>A p.Asp236Glu p.D236E ENST00000035383 NM_020794.2 236 gaT/gaA 8/25 SUCCESS | |
| 1 70451966 70451966 A A HCT116_LARGE_INTESTINE FAILED | |
| LRRC7 57554 GRCh37 1 70452014 70452014 + synonymous_variant Silent SNP C A rs763343740 NCIH1618_LUNG ENST00000035383.5:c.762C>A p.Ala254= p.A254= ENST00000035383 NM_020794.2 254 gcC/gcA 8/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70460264 70460264 + missense_variant Missense_Mutation SNP A T EN_ENDOMETRIUM ENST00000035383.5:c.838A>T p.Thr280Ser p.T280S ENST00000035383 NM_020794.2 280 Act/Tct 9/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70477487 70477487 + missense_variant Missense_Mutation SNP T G HEC251_ENDOMETRIUM ENST00000035383.5:c.898T>G p.Leu300Val p.L300V ENST00000035383 NM_020794.2 300 Tta/Gta 10/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70477572 70477572 + missense_variant Missense_Mutation SNP C A NCIH1651_LUNG ENST00000035383.5:c.983C>A p.Ala328Glu p.A328E ENST00000035383 NM_020794.2 328 gCa/gAa 10/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70477595 70477595 + stop_gained Nonsense_Mutation SNP G T RCM1_LARGE_INTESTINE ENST00000035383.5:c.1006G>T p.Glu336Ter p.E336* ENST00000035383 NM_020794.2 336 Gaa/Taa 10/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70477602 70477602 + missense_variant Missense_Mutation SNP C G NCIH1573_LUNG ENST00000035383.5:c.1013C>G p.Pro338Arg p.P338R ENST00000035383 NM_020794.2 338 cCc/cGc 10/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70482166 70482166 + synonymous_variant Silent SNP C T NCIH2110_LUNG ENST00000035383.5:c.1155C>T p.Phe385= p.F385= ENST00000035383 NM_020794.2 385 ttC/ttT 12/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70482217 70482217 + missense_variant,splice_region_variant Missense_Mutation SNP G T NCIH650_LUNG ENST00000035383.5:c.1206G>T p.Gln402His p.Q402H ENST00000035383 NM_020794.2 402 caG/caT 12/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70484438 70484438 + missense_variant Missense_Mutation SNP C T NCIH1435_LUNG ENST00000035383.5:c.1243C>T p.Pro415Ser p.P415S ENST00000035383 NM_020794.2 415 Cca/Tca 13/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70484483 70484483 + missense_variant Missense_Mutation SNP C A DMS273_LUNG ENST00000035383.5:c.1288C>A p.Gln430Lys p.Q430K ENST00000035383 NM_020794.2 430 Cag/Aag 13/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70486720 70486720 + missense_variant Missense_Mutation SNP A G CORL24_LUNG ENST00000035383.5:c.1339A>G p.Thr447Ala p.T447A ENST00000035383 NM_020794.2 447 Aca/Gca 14/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70486761 70486761 + synonymous_variant Silent SNP C A SW780_URINARY_TRACT ENST00000035383.5:c.1380C>A p.Ala460= p.A460= ENST00000035383 NM_020794.2 460 gcC/gcA 14/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70486792 70486792 + missense_variant Missense_Mutation SNP G A rs1318855534 HT29_LARGE_INTESTINE ENST00000035383.5:c.1411G>A p.Glu471Lys p.E471K ENST00000035383 NM_020794.2 471 Gaa/Aaa 14/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70486799 70486799 + missense_variant Missense_Mutation SNP C T SNU175_LARGE_INTESTINE ENST00000035383.5:c.1418C>T p.Ala473Val p.A473V ENST00000035383 NM_020794.2 473 gCt/gTt 14/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70486803 70486803 + synonymous_variant Silent SNP G T HEC251_ENDOMETRIUM ENST00000035383.5:c.1422G>T p.Gly474= p.G474= ENST00000035383 NM_020794.2 474 ggG/ggT 14/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70488812 70488812 + missense_variant Missense_Mutation SNP C A PK1_PANCREAS ENST00000035383.5:c.1435C>A p.Leu479Ile p.L479I ENST00000035383 NM_020794.2 479 Ctc/Atc 15/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70488935 70488935 + missense_variant Missense_Mutation SNP C T HS944T_SKIN ENST00000035383.5:c.1558C>T p.Pro520Ser p.P520S ENST00000035383 NM_020794.2 520 Ccc/Tcc 15/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70493872 70493872 + stop_gained Nonsense_Mutation SNP C T PANC0203_PANCREAS ENST00000035383.5:c.1699C>T p.Arg567Ter p.R567* ENST00000035383 NM_020794.2 567 Cga/Tga 16/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70493873 70493873 + missense_variant Missense_Mutation SNP G A rs763720419 MELJUSO_SKIN ENST00000035383.5:c.1700G>A p.Arg567Gln p.R567Q ENST00000035383 NM_020794.2 567 cGa/cAa 16/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70493956 70493956 + missense_variant Missense_Mutation SNP C T rs201500873 BV173_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000035383.5:c.1783C>T p.Arg595Cys p.R595C ENST00000035383 NM_020794.2 595 Cgt/Tgt 16/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70501888 70501888 + missense_variant Missense_Mutation SNP C T SNU81_LARGE_INTESTINE ENST00000035383.5:c.1966C>T p.Leu656Phe p.L656F ENST00000035383 NM_020794.2 656 Ctt/Ttt 17/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70502144 70502144 + stop_gained Nonsense_Mutation SNP G T NCIH1944_LUNG ENST00000035383.5:c.2011G>T p.Glu671Ter p.E671* ENST00000035383 NM_020794.2 671 Gaa/Taa 18/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70502179 70502179 + synonymous_variant Silent SNP T C BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000035383.5:c.2046T>C p.Val682= p.V682= ENST00000035383 NM_020794.2 682 gtT/gtC 18/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70502191 70502191 + synonymous_variant Silent SNP T C BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000035383.5:c.2058T>C p.Thr686= p.T686= ENST00000035383 NM_020794.2 686 acT/acC 18/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70502203 70502203 + stop_gained Nonsense_Mutation SNP C G CORL279_LUNG ENST00000035383.5:c.2070C>G p.Tyr690Ter p.Y690* ENST00000035383 NM_020794.2 690 taC/taG 18/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70502215 70502215 + missense_variant Missense_Mutation SNP G T NCIH1435_LUNG ENST00000035383.5:c.2082G>T p.Gln694His p.Q694H ENST00000035383 NM_020794.2 694 caG/caT 18/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70502276 70502276 + missense_variant Missense_Mutation SNP G A NCIH1373_LUNG ENST00000035383.5:c.2143G>A p.Asp715Asn p.D715N ENST00000035383 NM_020794.2 715 Gat/Aat 18/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70502279 70502279 + missense_variant Missense_Mutation SNP G A rs1423965467 KP3_PANCREAS ENST00000035383.5:c.2146G>A p.Ala716Thr p.A716T ENST00000035383 NM_020794.2 716 Gca/Aca 18/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70503803 70503803 + missense_variant Missense_Mutation SNP C A rs770865664 K562_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000035383.5:c.2182C>A p.Pro728Thr p.P728T ENST00000035383 NM_020794.2 728 Cca/Aca 19/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70503815 70503815 + stop_gained Nonsense_Mutation SNP C T CW2_LARGE_INTESTINE ENST00000035383.5:c.2194C>T p.Gln732Ter p.Q732* ENST00000035383 NM_020794.2 732 Cag/Tag 19/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70503882 70503882 + missense_variant Missense_Mutation SNP G T NCIH23_LUNG ENST00000035383.5:c.2261G>T p.Arg754Leu p.R754L ENST00000035383 NM_020794.2 754 cGt/cTt 19/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70503884 70503884 + missense_variant Missense_Mutation SNP C T rs555212671 HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000035383.5:c.2263C>T p.Pro755Ser p.P755S ENST00000035383 NM_020794.2 755 Cct/Tct 19/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70503980 70503980 + missense_variant Missense_Mutation SNP G A rs773827039 CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000035383.5:c.2359G>A p.Glu787Lys p.E787K ENST00000035383 NM_020794.2 787 Gag/Aag 19/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70503987 70503987 + missense_variant Missense_Mutation SNP C G rs144821920 MC116_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000035383.5:c.2366C>G p.Ala789Gly p.A789G ENST00000035383 NM_020794.2 789 gCc/gGc 19/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70504032 70504032 + missense_variant Missense_Mutation SNP C T rs1246459421 HEC251_ENDOMETRIUM ENST00000035383.5:c.2411C>T p.Ser804Leu p.S804L ENST00000035383 NM_020794.2 804 tCg/tTg 19/25 SUCCESS | |
| 1 70504079 70504079 C C KM12_LARGE_INTESTINE FAILED | |
| LRRC7 57554 GRCh37 1 70504119 70504119 + missense_variant Missense_Mutation SNP A G UACC62_SKIN ENST00000035383.5:c.2498A>G p.Glu833Gly p.E833G ENST00000035383 NM_020794.2 833 gAa/gGa 19/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70504221 70504221 + missense_variant Missense_Mutation SNP C T SNU738_CENTRAL_NERVOUS_SYSTEM ENST00000035383.5:c.2600C>T p.Thr867Ile p.T867I ENST00000035383 NM_020794.2 867 aCt/aTt 19/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70504229 70504229 + missense_variant Missense_Mutation SNP C T rs1231845003 HEC108_ENDOMETRIUM ENST00000035383.5:c.2608C>T p.Pro870Ser p.P870S ENST00000035383 NM_020794.2 870 Cca/Tca 19/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70504281 70504281 + missense_variant Missense_Mutation SNP C A HEC251_ENDOMETRIUM ENST00000035383.5:c.2660C>A p.Pro887His p.P887H ENST00000035383 NM_020794.2 887 cCt/cAt 19/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70504303 70504303 + stop_gained Nonsense_Mutation SNP G A NCIH1048_LUNG ENST00000035383.5:c.2682G>A p.Trp894Ter p.W894* ENST00000035383 NM_020794.2 894 tgG/tgA 19/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70504306 70504306 + missense_variant Missense_Mutation SNP G T rs757614153 JHH7_LIVER ENST00000035383.5:c.2685G>T p.Glu895Asp p.E895D ENST00000035383 NM_020794.2 895 gaG/gaT 19/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70504323 70504323 + missense_variant Missense_Mutation SNP C T rs1571130480 FADU_UPPER_AERODIGESTIVE_TRACT ENST00000035383.5:c.2702C>T p.Pro901Leu p.P901L ENST00000035383 NM_020794.2 901 cCc/cTc 19/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70504326 70504326 + missense_variant Missense_Mutation SNP A T HCC202_BREAST ENST00000035383.5:c.2705A>T p.Asn902Ile p.N902I ENST00000035383 NM_020794.2 902 aAc/aTc 19/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70504364 70504364 + missense_variant Missense_Mutation SNP C T rs560442756 ALLSIL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000035383.5:c.2743C>T p.Arg915Cys p.R915C ENST00000035383 NM_020794.2 915 Cgc/Tgc 19/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70504368 70504368 + missense_variant Missense_Mutation SNP C T rs764421124 OVSAHO_OVARY ENST00000035383.5:c.2747C>T p.Pro916Leu p.P916L ENST00000035383 NM_020794.2 916 cCg/cTg 19/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70504368 70504368 + missense_variant Missense_Mutation SNP C T rs764421124 YD15_SALIVARY_GLAND ENST00000035383.5:c.2747C>T p.Pro916Leu p.P916L ENST00000035383 NM_020794.2 916 cCg/cTg 19/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70504409 70504409 + missense_variant Missense_Mutation SNP G A HEC6_ENDOMETRIUM ENST00000035383.5:c.2788G>A p.Glu930Lys p.E930K ENST00000035383 NM_020794.2 930 Gag/Aag 19/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70504469 70504469 + missense_variant Missense_Mutation SNP A G NCIH727_LUNG ENST00000035383.5:c.2848A>G p.Ile950Val p.I950V ENST00000035383 NM_020794.2 950 Atc/Gtc 19/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70504477 70504477 + missense_variant Missense_Mutation SNP G T JHUEM7_ENDOMETRIUM ENST00000035383.5:c.2856G>T p.Glu952Asp p.E952D ENST00000035383 NM_020794.2 952 gaG/gaT 19/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70504527 70504527 + missense_variant Missense_Mutation SNP C T rs374705442 NCIH2029_LUNG ENST00000035383.5:c.2906C>T p.Ala969Val p.A969V ENST00000035383 NM_020794.2 969 gCt/gTt 19/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70504583 70504583 + stop_gained Nonsense_Mutation SNP G T NCIH1930_LUNG ENST00000035383.5:c.2962G>T p.Glu988Ter p.E988* ENST00000035383 NM_020794.2 988 Gag/Tag 19/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70504931 70504931 + missense_variant Missense_Mutation SNP G C rs772640586 NCIH838_LUNG ENST00000035383.5:c.3310G>C p.Ala1104Pro p.A1104P ENST00000035383 NM_020794.2 1104 Gca/Cca 19/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70504998 70504998 + missense_variant Missense_Mutation SNP C T SNUC4_LARGE_INTESTINE ENST00000035383.5:c.3377C>T p.Ala1126Val p.A1126V ENST00000035383 NM_020794.2 1126 gCc/gTc 19/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70505001 70505001 + missense_variant Missense_Mutation SNP T A KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000035383.5:c.3380T>A p.Met1127Lys p.M1127K ENST00000035383 NM_020794.2 1127 aTg/aAg 19/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70505022 70505022 + missense_variant Missense_Mutation SNP C A NCIH510_LUNG ENST00000035383.5:c.3401C>A p.Pro1134His p.P1134H ENST00000035383 NM_020794.2 1134 cCt/cAt 19/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70505072 70505072 + missense_variant Missense_Mutation SNP G T NCIH2286_LUNG ENST00000035383.5:c.3451G>T p.Gly1151Trp p.G1151W ENST00000035383 NM_020794.2 1151 Ggg/Tgg 19/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70505149 70505149 + missense_variant Missense_Mutation SNP C A CORL279_LUNG ENST00000035383.5:c.3528C>A p.His1176Gln p.H1176Q ENST00000035383 NM_020794.2 1176 caC/caA 19/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70505180 70505180 + stop_gained Nonsense_Mutation SNP G T NCIH1573_LUNG ENST00000035383.5:c.3559G>T p.Gly1187Ter p.G1187* ENST00000035383 NM_020794.2 1187 Gga/Tga 19/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70505207 70505207 + missense_variant Missense_Mutation SNP C G PC14_LUNG ENST00000035383.5:c.3586C>G p.Gln1196Glu p.Q1196E ENST00000035383 NM_020794.2 1196 Caa/Gaa 19/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70505225 70505225 + missense_variant Missense_Mutation SNP G A SNU899_UPPER_AERODIGESTIVE_TRACT ENST00000035383.5:c.3604G>A p.Ala1202Thr p.A1202T ENST00000035383 NM_020794.2 1202 Gcg/Acg 19/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70505364 70505364 + missense_variant Missense_Mutation SNP G T NCIH441_LUNG ENST00000035383.5:c.3743G>T p.Ser1248Ile p.S1248I ENST00000035383 NM_020794.2 1248 aGt/aTt 19/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70509702 70509702 + missense_variant Missense_Mutation SNP G A EN_ENDOMETRIUM ENST00000035383.5:c.3921G>A p.Met1307Ile p.M1307I ENST00000035383 NM_020794.2 1307 atG/atA 20/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70509769 70509769 + missense_variant Missense_Mutation SNP C T RKO_LARGE_INTESTINE ENST00000035383.5:c.3988C>T p.Leu1330Phe p.L1330F ENST00000035383 NM_020794.2 1330 Ctt/Ttt 20/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70518776 70518776 + missense_variant Missense_Mutation SNP A G HEC108_ENDOMETRIUM ENST00000035383.5:c.4064A>G p.Asn1355Ser p.N1355S ENST00000035383 NM_020794.2 1355 aAt/aGt 21/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70518796 70518796 + missense_variant Missense_Mutation SNP C T rs763509973 HEC59_ENDOMETRIUM ENST00000035383.5:c.4084C>T p.Arg1362Trp p.R1362W ENST00000035383 NM_020794.2 1362 Cgg/Tgg 21/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70541763 70541763 + missense_variant Missense_Mutation SNP G A rs761981927 SNU1066_UPPER_AERODIGESTIVE_TRACT ENST00000035383.5:c.4120G>A p.Gly1374Ser p.G1374S ENST00000035383 NM_020794.2 1374 Ggc/Agc 22/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70541827 70541827 + missense_variant Missense_Mutation SNP C T rs1376546849 HEC251_ENDOMETRIUM ENST00000035383.5:c.4184C>T p.Pro1395Leu p.P1395L ENST00000035383 NM_020794.2 1395 cCg/cTg 22/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70541881 70541881 + missense_variant Missense_Mutation SNP C A NCIH1105_LUNG ENST00000035383.5:c.4238C>A p.Pro1413His p.P1413H ENST00000035383 NM_020794.2 1413 cCt/cAt 22/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70541892 70541892 + missense_variant Missense_Mutation SNP C T COLO792_SKIN ENST00000035383.5:c.4249C>T p.Pro1417Ser p.P1417S ENST00000035383 NM_020794.2 1417 Ccc/Tcc 22/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70555423 70555423 + missense_variant Missense_Mutation SNP T A NCIH1963_LUNG ENST00000035383.5:c.4352T>A p.Ile1451Lys p.I1451K ENST00000035383 NM_020794.2 1451 aTa/aAa 23/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70555425 70555425 + missense_variant Missense_Mutation SNP G C L428_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000035383.5:c.4354G>C p.Glu1452Gln p.E1452Q ENST00000035383 NM_020794.2 1452 Gaa/Caa 23/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70555461 70555461 + missense_variant Missense_Mutation SNP G A RT4_URINARY_TRACT ENST00000035383.5:c.4390G>A p.Gly1464Arg p.G1464R ENST00000035383 NM_020794.2 1464 Gga/Aga 23/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70573454 70573454 + missense_variant Missense_Mutation SNP T C HT55_LARGE_INTESTINE ENST00000035383.5:c.4451T>C p.Val1484Ala p.V1484A ENST00000035383 NM_020794.2 1484 gTt/gCt 24/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70573508 70573508 + missense_variant,splice_region_variant Missense_Mutation SNP A G CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000035383.5:c.4505A>G p.Gln1502Arg p.Q1502R ENST00000035383 NM_020794.2 1502 cAg/cGg 24/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70587469 70587469 + missense_variant Missense_Mutation SNP G A UACC257_SKIN ENST00000035383.5:c.4513G>A p.Gly1505Arg p.G1505R ENST00000035383 NM_020794.2 1505 Gga/Aga 25/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70587573 70587573 + 3_prime_UTR_variant 3'UTR SNP A G BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000035383.5:c.*3A>G ENST00000035383 NM_020794.2 25/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70587596 70587596 + 3_prime_UTR_variant 3'UTR SNP C A rs200827006 HCC1438_LUNG ENST00000035383.5:c.*26C>A ENST00000035383 NM_020794.2 25/25 SUCCESS | |
| LRRC7 57554 GRCh37 1 70587626 70587626 + 3_prime_UTR_variant 3'UTR SNP A T SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000035383.5:c.*56A>T ENST00000035383 NM_020794.2 25/25 SUCCESS | |
| LRRIQ3 127255 GRCh37 1 74663759 74663759 + 5_prime_UTR_variant 5'UTR SNP G A RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000354431.4:c.-80C>T p.*27* ENST00000354431 NM_001105659.1 1/8 SUCCESS | |
| FPGT-TNNI3K 100526835 GRCh37 1 74663942 74663942 + missense_variant Missense_Mutation SNP G A rs780744071 CORL23_LUNG ENST00000557284.2:c.19G>A p.Gly7Ser p.G7S ENST00000557284 7 Ggt/Agt 1/27 SUCCESS | |
| FPGT-TNNI3K 100526835 GRCh37 1 74665363 74665363 + missense_variant Missense_Mutation SNP G A rs780370068 SNU407_LARGE_INTESTINE ENST00000557284.2:c.137G>A p.Arg46His p.R46H ENST00000557284 46 cGt/cAt 2/27 SUCCESS | |
| FPGT-TNNI3K 100526835 GRCh37 1 74667015 74667015 + synonymous_variant Silent SNP A G rs1369591782 MFE319_ENDOMETRIUM ENST00000557284.2:c.303A>G p.Ser101= p.S101= ENST00000557284 101 tcA/tcG 3/27 SUCCESS | |
| FPGT-TNNI3K 100526835 GRCh37 1 74667018 74667018 + synonymous_variant Silent SNP A G rs556786628 SNUC4_LARGE_INTESTINE ENST00000557284.2:c.306A>G p.Thr102= p.T102= ENST00000557284 102 acA/acG 3/27 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74701090 74701090 + 5_prime_UTR_variant 5'UTR SNP T C rs201494849 VMCUB1_URINARY_TRACT ENST00000326637.3:c.-46T>C p.*16* ENST00000326637 NM_015978.2 1/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74701100 74701100 + 5_prime_UTR_variant 5'UTR SNP A G LK2_LUNG ENST00000326637.3:c.-36A>G p.*12* ENST00000326637 NM_015978.2 1/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74701135 74701135 + 5_prime_UTR_variant 5'UTR SNP A G EN_ENDOMETRIUM ENST00000326637.3:c.-1A>G p.*1* ENST00000326637 NM_015978.2 1/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74701145 74701145 + missense_variant Missense_Mutation SNP T G BT474_BREAST ENST00000326637.3:c.10T>G p.Tyr4Asp p.Y4D ENST00000326637 NM_015978.2 4 Tat/Gat 1/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74701150 74701150 + missense_variant Missense_Mutation SNP A T MIAPACA2_PANCREAS ENST00000326637.3:c.15A>T p.Lys5Asn p.K5N ENST00000326637 NM_015978.2 5 aaA/aaT 1/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74701154 74701154 + stop_gained Nonsense_Mutation SNP A T L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000326637.3:c.19A>T p.Arg7Ter p.R7* ENST00000326637 NM_015978.2 7 Aga/Tga 1/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74701835 74701835 + missense_variant Missense_Mutation SNP A T LNCAPCLONEFGC_PROSTATE ENST00000326637.3:c.90A>T p.Arg30Ser p.R30S ENST00000326637 NM_015978.2 30 agA/agT 2/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74715198 74715198 + missense_variant Missense_Mutation SNP T C HCC1569_BREAST ENST00000326637.3:c.205T>C p.Ser69Pro p.S69P ENST00000326637 NM_015978.2 69 Tct/Cct 3/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74716356 74716356 + missense_variant,splice_region_variant Missense_Mutation SNP G A SNU1040_LARGE_INTESTINE ENST00000326637.3:c.236G>A p.Gly79Asp p.G79D ENST00000326637 NM_015978.2 79 gGc/gAc 4/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74716394 74716394 + missense_variant Missense_Mutation SNP C T SNU1040_LARGE_INTESTINE ENST00000326637.3:c.274C>T p.Leu92Phe p.L92F ENST00000326637 NM_015978.2 92 Ctc/Ttc 4/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74716413 74716413 + missense_variant Missense_Mutation SNP C A rs192894824 KMRC3_KIDNEY ENST00000326637.3:c.293C>A p.Thr98Lys p.T98K ENST00000326637 NM_015978.2 98 aCa/aAa 4/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74716413 74716413 + missense_variant Missense_Mutation SNP C A rs192894824 SNU869_BILIARY_TRACT ENST00000326637.3:c.293C>A p.Thr98Lys p.T98K ENST00000326637 NM_015978.2 98 aCa/aAa 4/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74737390 74737390 + missense_variant,splice_region_variant Missense_Mutation SNP G A NCIH1568_LUNG ENST00000326637.3:c.442G>A p.Glu148Lys p.E148K ENST00000326637 NM_015978.2 148 Gag/Aag 5/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74797140 74797140 + missense_variant Missense_Mutation SNP G C rs34874695 SNU387_LIVER ENST00000326637.3:c.451G>C p.Asp151His p.D151H ENST00000326637 NM_015978.2 151 Gat/Cat 6/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74797140 74797140 + missense_variant Missense_Mutation SNP G C rs34874695 SNU668_STOMACH ENST00000326637.3:c.451G>C p.Asp151His p.D151H ENST00000326637 NM_015978.2 151 Gat/Cat 6/25 SUCCESS | |
| 1 74797186 74797186 T T SNUC5_LARGE_INTESTINE FAILED | |
| TNNI3K 51086 GRCh37 1 74797215 74797215 + missense_variant Missense_Mutation SNP T C SNU1040_LARGE_INTESTINE ENST00000326637.3:c.526T>C p.Tyr176His p.Y176H ENST00000326637 NM_015978.2 176 Tac/Cac 6/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74801693 74801693 + splice_acceptor_variant Splice_Site SNP A G MFE319_ENDOMETRIUM ENST00000326637.3:c.544-2A>G p.X182_splice ENST00000326637 NM_015978.2 182 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74801792 74801792 + missense_variant Missense_Mutation SNP A G rs1178939945 HS766T_PANCREAS ENST00000326637.3:c.641A>G p.Asn214Ser p.N214S ENST00000326637 NM_015978.2 214 aAt/aGt 7/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74801815 74801815 + missense_variant Missense_Mutation SNP G C ZR7530_BREAST ENST00000326637.3:c.664G>C p.Glu222Gln p.E222Q ENST00000326637 NM_015978.2 222 Gaa/Caa 7/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74808538 74808538 + missense_variant Missense_Mutation SNP A G ONS76_CENTRAL_NERVOUS_SYSTEM ENST00000326637.3:c.695A>G p.Asp232Gly p.D232G ENST00000326637 NM_015978.2 232 gAt/gGt 8/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74808574 74808574 + missense_variant Missense_Mutation SNP G A rs779542189 SNU407_LARGE_INTESTINE ENST00000326637.3:c.731G>A p.Arg244Gln p.R244Q ENST00000326637 NM_015978.2 244 cGa/cAa 8/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74808645 74808645 + missense_variant Missense_Mutation SNP A G HEC251_ENDOMETRIUM ENST00000326637.3:c.802A>G p.Ile268Val p.I268V ENST00000326637 NM_015978.2 268 Atc/Gtc 8/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74808790 74808790 + missense_variant Missense_Mutation SNP A C rs200307603 KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000326637.3:c.859A>C p.Lys287Gln p.K287Q ENST00000326637 NM_015978.2 287 Aag/Cag 9/25 SUCCESS | |
| 1 74808813 74808813 A A HPAFII_PANCREAS FAILED | |
| TNNI3K 51086 GRCh37 1 74808847 74808847 + stop_gained Nonsense_Mutation SNP G T JHUEM7_ENDOMETRIUM ENST00000326637.3:c.916G>T p.Glu306Ter p.E306* ENST00000326637 NM_015978.2 306 Gaa/Taa 9/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74818997 74818997 + missense_variant Missense_Mutation SNP A T SUDHL10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000326637.3:c.980A>T p.Asp327Val p.D327V ENST00000326637 NM_015978.2 327 gAt/gTt 10/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74819012 74819012 + missense_variant Missense_Mutation SNP A T rs200084712 HEC251_ENDOMETRIUM ENST00000326637.3:c.995A>T p.Asn332Ile p.N332I ENST00000326637 NM_015978.2 332 aAc/aTc 10/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74819023 74819023 + missense_variant Missense_Mutation SNP C A A2058_SKIN ENST00000326637.3:c.1006C>A p.Gln336Lys p.Q336K ENST00000326637 NM_015978.2 336 Caa/Aaa 10/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74819035 74819035 + missense_variant Missense_Mutation SNP G T TE4_OESOPHAGUS ENST00000326637.3:c.1018G>T p.Gly340Trp p.G340W ENST00000326637 NM_015978.2 340 Ggg/Tgg 10/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74819038 74819038 + missense_variant Missense_Mutation SNP C T rs1304788443 OUMS23_LARGE_INTESTINE ENST00000326637.3:c.1021C>T p.His341Tyr p.H341Y ENST00000326637 NM_015978.2 341 Cac/Tac 10/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74819729 74819729 + missense_variant Missense_Mutation SNP G T HT55_LARGE_INTESTINE ENST00000326637.3:c.1093G>T p.Asp365Tyr p.D365Y ENST00000326637 NM_015978.2 365 Gat/Tat 11/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74819802 74819802 + missense_variant Missense_Mutation SNP C T MFE319_ENDOMETRIUM ENST00000326637.3:c.1166C>T p.Ala389Val p.A389V ENST00000326637 NM_015978.2 389 gCt/gTt 11/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74832979 74832979 + missense_variant Missense_Mutation SNP G T rs200432313 CMK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000326637.3:c.1217G>T p.Arg406Ile p.R406I ENST00000326637 NM_015978.2 406 aGa/aTa 12/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74832979 74832979 + missense_variant Missense_Mutation SNP G T rs200432313 ECGI10_OESOPHAGUS ENST00000326637.3:c.1217G>T p.Arg406Ile p.R406I ENST00000326637 NM_015978.2 406 aGa/aTa 12/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74832979 74832979 + missense_variant Missense_Mutation SNP G T rs200432313 HEC251_ENDOMETRIUM ENST00000326637.3:c.1217G>T p.Arg406Ile p.R406I ENST00000326637 NM_015978.2 406 aGa/aTa 12/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74832979 74832979 + missense_variant Missense_Mutation SNP G T rs200432313 OVTOKO_OVARY ENST00000326637.3:c.1217G>T p.Arg406Ile p.R406I ENST00000326637 NM_015978.2 406 aGa/aTa 12/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74833010 74833010 + stop_gained Nonsense_Mutation SNP T A LNCAPCLONEFGC_PROSTATE ENST00000326637.3:c.1248T>A p.Tyr416Ter p.Y416* ENST00000326637 NM_015978.2 416 taT/taA 12/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74833595 74833595 + missense_variant Missense_Mutation SNP G T HCC1195_LUNG ENST00000326637.3:c.1268G>T p.Gly423Val p.G423V ENST00000326637 NM_015978.2 423 gGc/gTc 13/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74833624 74833624 + missense_variant Missense_Mutation SNP G T IGROV1_OVARY ENST00000326637.3:c.1297G>T p.Gly433Trp p.G433W ENST00000326637 NM_015978.2 433 Ggg/Tgg 13/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74833645 74833645 + missense_variant Missense_Mutation SNP A C rs201637938 NCIH647_LUNG ENST00000326637.3:c.1318A>C p.Lys440Gln p.K440Q ENST00000326637 NM_015978.2 440 Aaa/Caa 13/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74833650 74833650 + splice_donor_variant Splice_Site SNP T C rs764867357 SNU1040_LARGE_INTESTINE ENST00000326637.3:c.1321+2T>C p.X441_splice ENST00000326637 NM_015978.2 441 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74834761 74834761 + missense_variant Missense_Mutation SNP G C rs1454843033 NCIH2172_LUNG ENST00000326637.3:c.1377G>C p.Gln459His p.Q459H ENST00000326637 NM_015978.2 459 caG/caC 14/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74834889 74834889 + splice_acceptor_variant Splice_Site SNP A T NCIH2196_LUNG ENST00000326637.3:c.1415-2A>T p.X472_splice ENST00000326637 NM_015978.2 472 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74834917 74834917 + stop_gained Nonsense_Mutation SNP C T rs757261707 RT4_URINARY_TRACT ENST00000326637.3:c.1441C>T p.Arg481Ter p.R481* ENST00000326637 NM_015978.2 481 Cga/Tga 15/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74834920 74834920 + missense_variant Missense_Mutation SNP T C HCC95_LUNG ENST00000326637.3:c.1444T>C p.Cys482Arg p.C482R ENST00000326637 NM_015978.2 482 Tgc/Cgc 15/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74834948 74834948 + missense_variant,splice_region_variant Missense_Mutation SNP G A rs192259069 ISTMES1_PLEURA ENST00000326637.3:c.1472G>A p.Arg491His p.R491H ENST00000326637 NM_015978.2 491 cGt/cAt 15/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74835083 74835083 + missense_variant Missense_Mutation SNP C T HEC108_ENDOMETRIUM ENST00000326637.3:c.1481C>T p.Ala494Val p.A494V ENST00000326637 NM_015978.2 494 gCc/gTc 16/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74835178 74835178 + missense_variant Missense_Mutation SNP G A GP2D_LARGE_INTESTINE ENST00000326637.3:c.1576G>A p.Gly526Ser p.G526S ENST00000326637 NM_015978.2 526 Ggt/Agt 16/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74835248 74835248 + missense_variant Missense_Mutation SNP C T NCIH2106_LUNG ENST00000326637.3:c.1646C>T p.Ser549Phe p.S549F ENST00000326637 NM_015978.2 549 tCc/tTc 16/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74836073 74836073 + missense_variant Missense_Mutation SNP A G LS180_LARGE_INTESTINE ENST00000326637.3:c.1769A>G p.Asn590Ser p.N590S ENST00000326637 NM_015978.2 590 aAc/aGc 17/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74836079 74836080 + splice_region_variant,intron_variant Splice_Region INS - T rs1478724361 LS180_LARGE_INTESTINE ENST00000326637.3:c.1772+10dup p.X591_splice ENST00000326637 NM_015978.2 591 SUCCESS | |
| 1 74836080 74836080 T T KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| TNNI3K 51086 GRCh37 1 74836174 74836174 + intron_variant Intron SNP G T SNUC5_LARGE_INTESTINE ENST00000326637.3:c.1772+98G>T p.*591* ENST00000326637 NM_015978.2 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74836216 74836216 + intron_variant Intron SNP C T rs372841622 NCIH661_LUNG ENST00000326637.3:c.1772+140C>T p.*591* ENST00000326637 NM_015978.2 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74836220 74836220 + intron_variant Intron SNP A G rs1570535506 SNU349_KIDNEY ENST00000326637.3:c.1772+144A>G p.*591* ENST00000326637 NM_015978.2 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74836279 74836279 + intron_variant Intron SNP C T COLO680N_OESOPHAGUS ENST00000326637.3:c.1772+203C>T p.*591* ENST00000326637 NM_015978.2 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74902164 74902164 + missense_variant Missense_Mutation SNP G C NCIH650_LUNG ENST00000326637.3:c.1832G>C p.Arg611Thr p.R611T ENST00000326637 NM_015978.2 611 aGa/aCa 19/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74902200 74902200 + missense_variant Missense_Mutation SNP A G RL952_ENDOMETRIUM ENST00000326637.3:c.1868A>G p.Lys623Arg p.K623R ENST00000326637 NM_015978.2 623 aAa/aGa 19/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74905185 74905185 + missense_variant Missense_Mutation SNP G T NCIH650_LUNG ENST00000326637.3:c.1890G>T p.Trp630Cys p.W630C ENST00000326637 NM_015978.2 630 tgG/tgT 20/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74905185 74905185 + missense_variant Missense_Mutation SNP G C rs779354276 PEER_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000326637.3:c.1890G>C p.Trp630Cys p.W630C ENST00000326637 NM_015978.2 630 tgG/tgC 20/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74905204 74905204 + missense_variant Missense_Mutation SNP A T rs776948756 HLF_LIVER ENST00000326637.3:c.1909A>T p.Thr637Ser p.T637S ENST00000326637 NM_015978.2 637 Acg/Tcg 20/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74905204 74905204 + missense_variant Missense_Mutation SNP A T rs776948756 T3M10_LUNG ENST00000326637.3:c.1909A>T p.Thr637Ser p.T637S ENST00000326637 NM_015978.2 637 Acg/Tcg 20/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74905217 74905217 + missense_variant Missense_Mutation SNP G A rs200171980 RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000326637.3:c.1922G>A p.Arg641Gln p.R641Q ENST00000326637 NM_015978.2 641 cGg/cAg 20/25 SUCCESS | |
| 1 74905217 74905217 G G RERFLCAD2_LUNG FAILED | |
| TNNI3K 51086 GRCh37 1 74905230 74905230 + missense_variant Missense_Mutation SNP A C rs1454896314 HEC50B_ENDOMETRIUM ENST00000326637.3:c.1935A>C p.Lys645Asn p.K645N ENST00000326637 NM_015978.2 645 aaA/aaC 20/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74905274 74905274 + missense_variant Missense_Mutation SNP C A NCIH1573_LUNG ENST00000326637.3:c.1979C>A p.Thr660Asn p.T660N ENST00000326637 NM_015978.2 660 aCt/aAt 20/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74905277 74905277 + missense_variant Missense_Mutation SNP G T KYSE30_OESOPHAGUS ENST00000326637.3:c.1982G>T p.Gly661Val p.G661V ENST00000326637 NM_015978.2 661 gGc/gTc 20/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74929131 74929131 + missense_variant Missense_Mutation SNP C T rs140963906 HEC6_ENDOMETRIUM ENST00000326637.3:c.2018C>T p.Ala673Val p.A673V ENST00000326637 NM_015978.2 673 gCg/gTg 21/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74929131 74929131 + missense_variant Missense_Mutation SNP C T rs140963906 NCIH1355_LUNG ENST00000326637.3:c.2018C>T p.Ala673Val p.A673V ENST00000326637 NM_015978.2 673 gCg/gTg 21/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74929164 74929164 + missense_variant Missense_Mutation SNP C T rs200093821 NALM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000326637.3:c.2051C>T p.Pro684Leu p.P684L ENST00000326637 NM_015978.2 684 cCt/cTt 21/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74929220 74929220 + missense_variant Missense_Mutation SNP A G NCIH526_LUNG ENST00000326637.3:c.2107A>G p.Asn703Asp p.N703D ENST00000326637 NM_015978.2 703 Aac/Gac 21/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74957812 74957812 + missense_variant Missense_Mutation SNP G C EBC1_LUNG ENST00000326637.3:c.2213G>C p.Gly738Ala p.G738A ENST00000326637 NM_015978.2 738 gGg/gCg 23/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74957900 74957900 + missense_variant Missense_Mutation SNP C A rs761994983 MORCPR_LUNG ENST00000326637.3:c.2301C>A p.Phe767Leu p.F767L ENST00000326637 NM_015978.2 767 ttC/ttA 23/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74957913 74957913 + missense_variant Missense_Mutation SNP G T KYSE180_OESOPHAGUS ENST00000326637.3:c.2314G>T p.Ala772Ser p.A772S ENST00000326637 NM_015978.2 772 Gct/Tct 23/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 74957931 74957931 + missense_variant Missense_Mutation SNP T A NCIH1838_LUNG ENST00000326637.3:c.2332T>A p.Tyr778Asn p.Y778N ENST00000326637 NM_015978.2 778 Tat/Aat 23/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 75005953 75005953 + missense_variant Missense_Mutation SNP A G MFE319_ENDOMETRIUM ENST00000326637.3:c.2387A>G p.Glu796Gly p.E796G ENST00000326637 NM_015978.2 796 gAg/gGg 24/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 75009599 75009599 + missense_variant Missense_Mutation SNP C G SCC4_UPPER_AERODIGESTIVE_TRACT ENST00000326637.3:c.2441C>G p.Ser814Cys p.S814C ENST00000326637 NM_015978.2 814 tCc/tGc 25/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 75009601 75009601 + missense_variant Missense_Mutation SNP G A rs997191933 HEC251_ENDOMETRIUM ENST00000326637.3:c.2443G>A p.Asp815Asn p.D815N ENST00000326637 NM_015978.2 815 Gat/Aat 25/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 75009687 75009687 + 3_prime_UTR_variant 3'UTR SNP A G rs757523141 MPP89_PLEURA ENST00000326637.3:c.*21A>G ENST00000326637 NM_015978.2 25/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 75009689 75009689 + 3_prime_UTR_variant 3'UTR SNP G T NCIH1563_LUNG ENST00000326637.3:c.*23G>T ENST00000326637 NM_015978.2 25/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 75009700 75009700 + 3_prime_UTR_variant 3'UTR SNP C T rs1231741782 IPC298_SKIN ENST00000326637.3:c.*34C>T ENST00000326637 NM_015978.2 25/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 75009717 75009717 + 3_prime_UTR_variant 3'UTR SNP C T rs201120366 T98G_CENTRAL_NERVOUS_SYSTEM ENST00000326637.3:c.*51C>T ENST00000326637 NM_015978.2 25/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 75009750 75009750 + 3_prime_UTR_variant 3'UTR SNP T C rs553430800 HCC2279_LUNG ENST00000326637.3:c.*84T>C ENST00000326637 NM_015978.2 25/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 75009782 75009783 + 3_prime_UTR_variant 3'UTR DNP GG AT NCIH446_LUNG ENST00000326637.3:c.*116_*117delinsAT ENST00000326637 NM_015978.2 25/25 SUCCESS | |
| TNNI3K 51086 GRCh37 1 75009909 75009909 + 3_prime_UTR_variant 3'UTR SNP A G rs201172469 KMS12BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000326637.3:c.*243A>G ENST00000326637 NM_015978.2 25/25 SUCCESS | |
| PRKACB 5567 GRCh37 1 84610042 84610042 + intron_variant Intron SNP T C HEC108_ENDOMETRIUM ENST00000370689.2:c.47-34818T>C p.*16* ENST00000370689 NM_002731.2 SUCCESS | |
| PRKACB 5567 GRCh37 1 84610154 84610154 + intron_variant Intron SNP C T rs369346119 HS698T_LARGE_INTESTINE ENST00000370689.2:c.47-34706C>T p.*16* ENST00000370689 NM_002731.2 SUCCESS | |
| PRKACB 5567 GRCh37 1 84610200 84610200 + intron_variant Intron SNP C A rs139854250 ESS1_ENDOMETRIUM ENST00000370689.2:c.47-34660C>A p.*16* ENST00000370689 NM_002731.2 SUCCESS | |
| 1 84644898 84644898 A A HEC108_ENDOMETRIUM FAILED | |
| PRKACB 5567 GRCh37 1 84647919 84647919 + missense_variant Missense_Mutation SNP A C DV90_LUNG ENST00000370689.2:c.145A>C p.Thr49Pro p.T49P ENST00000370689 NM_002731.2 49 Acc/Ccc 3/10 SUCCESS | |
| PRKACB 5567 GRCh37 1 84647925 84647926 + missense_variant Missense_Mutation DNP GG TT NCIH1648_LUNG ENST00000370689.2:c.151_152delinsTT p.Gly51Leu p.G51L ENST00000370689 NM_002731.2 51 GGa/TTa 3/10 SUCCESS | |
| PRKACB 5567 GRCh37 1 84647975 84647975 + missense_variant Missense_Mutation SNP A T rs780979027 HCC1419_BREAST ENST00000370689.2:c.201A>T p.Glu67Asp p.E67D ENST00000370689 NM_002731.2 67 gaA/gaT 3/10 SUCCESS | |
| PRKACB 5567 GRCh37 1 84662312 84662312 + missense_variant Missense_Mutation SNP C T rs1372416164 CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000370689.2:c.433C>T p.Arg145Trp p.R145W ENST00000370689 NM_002731.2 145 Cgg/Tgg 6/10 SUCCESS | |
| PRKACB 5567 GRCh37 1 84663499 84663499 + missense_variant Missense_Mutation SNP C A SNU81_LARGE_INTESTINE ENST00000370689.2:c.634C>A p.Leu212Ile p.L212I ENST00000370689 NM_002731.2 212 Ctc/Atc 7/10 SUCCESS | |
| PRKACB 5567 GRCh37 1 84668400 84668400 + missense_variant Missense_Mutation SNP G T NCIH510_LUNG ENST00000370689.2:c.677G>T p.Gly226Val p.G226V ENST00000370689 NM_002731.2 226 gGa/gTa 8/10 SUCCESS | |
| PRKACB 5567 GRCh37 1 84668440 84668440 + missense_variant Missense_Mutation SNP C A JHUEM7_ENDOMETRIUM ENST00000370689.2:c.717C>A p.Phe239Leu p.F239L ENST00000370689 NM_002731.2 239 ttC/ttA 8/10 SUCCESS | |
| PRKACB 5567 GRCh37 1 84668447 84668447 + missense_variant Missense_Mutation SNP G A EFO21_OVARY ENST00000370689.2:c.724G>A p.Asp242Asn p.D242N ENST00000370689 NM_002731.2 242 Gac/Aac 8/10 SUCCESS | |
| PRKACB 5567 GRCh37 1 84668464 84668464 + missense_variant Missense_Mutation SNP T G HEC251_ENDOMETRIUM ENST00000370689.2:c.741T>G p.Ile247Met p.I247M ENST00000370689 NM_002731.2 247 atT/atG 8/10 SUCCESS | |
| PRKACB 5567 GRCh37 1 84670203 84670203 + intron_variant Intron SNP T A DETROIT562_UPPER_AERODIGESTIVE_TRACT ENST00000370689.2:c.765+1715T>A p.*255* ENST00000370689 NM_002731.2 SUCCESS | |
| PRKACB 5567 GRCh37 1 84670228 84670228 + intron_variant Intron SNP T G JHUEM7_ENDOMETRIUM ENST00000370689.2:c.765+1740T>G p.*255* ENST00000370689 NM_002731.2 SUCCESS | |
| PRKACB 5567 GRCh37 1 84670408 84670408 + intron_variant Intron SNP C A rs536548070 SNU81_LARGE_INTESTINE ENST00000370689.2:c.765+1920C>A p.*255* ENST00000370689 NM_002731.2 SUCCESS | |
| PRKACB 5567 GRCh37 1 84670439 84670440 + intron_variant Intron INS - C rs3835687 EBC1_LUNG ENST00000370689.2:c.765+1951_765+1952insC p.*255* ENST00000370689 NM_002731.2 SUCCESS | |
| PRKACB 5567 GRCh37 1 84670439 84670440 + intron_variant Intron INS - C rs3835687 FADU_UPPER_AERODIGESTIVE_TRACT ENST00000370689.2:c.765+1951_765+1952insC p.*255* ENST00000370689 NM_002731.2 SUCCESS | |
| PRKACB 5567 GRCh37 1 84670439 84670440 + intron_variant Intron INS - C rs3835687 FU97_STOMACH ENST00000370689.2:c.765+1951_765+1952insC p.*255* ENST00000370689 NM_002731.2 SUCCESS | |
| PRKACB 5567 GRCh37 1 84670439 84670440 + intron_variant Intron INS - C rs3835687 KMS12BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000370689.2:c.765+1951_765+1952insC p.*255* ENST00000370689 NM_002731.2 SUCCESS | |
| PRKACB 5567 GRCh37 1 84670439 84670440 + intron_variant Intron INS - C rs3835687 NCIH1944_LUNG ENST00000370689.2:c.765+1951_765+1952insC p.*255* ENST00000370689 NM_002731.2 SUCCESS | |
| PRKACB 5567 GRCh37 1 84670439 84670440 + intron_variant Intron INS - C rs3835687 NCIH647_LUNG ENST00000370689.2:c.765+1951_765+1952insC p.*255* ENST00000370689 NM_002731.2 SUCCESS | |
| PRKACB 5567 GRCh37 1 84670439 84670440 + intron_variant Intron INS - C rs3835687 RERFLCKJ_LUNG ENST00000370689.2:c.765+1951_765+1952insC p.*255* ENST00000370689 NM_002731.2 SUCCESS | |
| PRKACB 5567 GRCh37 1 84679971 84679971 + missense_variant Missense_Mutation SNP A G HCT116_LARGE_INTESTINE ENST00000370689.2:c.901A>G p.Thr301Ala p.T301A ENST00000370689 NM_002731.2 301 Aca/Gca 9/10 SUCCESS | |
| PRKACB 5567 GRCh37 1 84679990 84679990 + missense_variant Missense_Mutation SNP A G SNU1040_LARGE_INTESTINE ENST00000370689.2:c.920A>G p.Tyr307Cys p.Y307C ENST00000370689 NM_002731.2 307 tAc/tGc 9/10 SUCCESS | |
| PRKACB 5567 GRCh37 1 84700926 84700926 + missense_variant Missense_Mutation SNP G A VMCUB1_URINARY_TRACT ENST00000370689.2:c.994G>A p.Glu332Lys p.E332K ENST00000370689 NM_002731.2 332 Gaa/Aaa 10/10 SUCCESS | |
| PRKACB 5567 GRCh37 1 84700995 84700995 + 3_prime_UTR_variant 3'UTR SNP A G HT115_LARGE_INTESTINE ENST00000370689.2:c.*7A>G ENST00000370689 NM_002731.2 10/10 SUCCESS | |
| PRKACB 5567 GRCh37 1 84700999 84700999 + 3_prime_UTR_variant 3'UTR SNP G A rs1223707258 CORL47_LUNG ENST00000370689.2:c.*11G>A ENST00000370689 NM_002731.2 10/10 SUCCESS | |
| PRKACB 5567 GRCh37 1 84701133 84701133 + 3_prime_UTR_variant 3'UTR SNP T C HEC108_ENDOMETRIUM ENST00000370689.2:c.*145T>C ENST00000370689 NM_002731.2 10/10 SUCCESS | |
| PRKACB 5567 GRCh37 1 84701152 84701152 + 3_prime_UTR_variant 3'UTR SNP C T rs1424991516 AGS_STOMACH ENST00000370689.2:c.*164C>T ENST00000370689 NM_002731.2 10/10 SUCCESS | |
| PRKACB 5567 GRCh37 1 84701272 84701272 + 3_prime_UTR_variant 3'UTR SNP A G rs147184083 TE6_OESOPHAGUS ENST00000370689.2:c.*284A>G ENST00000370689 NM_002731.2 10/10 SUCCESS | |
| BCL10 8915 GRCh37 1 85733341 85733341 + missense_variant Missense_Mutation SNP G A COLO783_SKIN ENST00000370580.1:c.671C>T p.Pro224Leu p.P224L ENST00000370580 NM_003921.4 224 cCc/cTc 3/3 SUCCESS | |
| 1 85733513 85733513 A A CW2_LARGE_INTESTINE FAILED | |
| BCL10 8915 GRCh37 1 85733527 85733527 + missense_variant Missense_Mutation SNP G A rs200837308 HEC265_ENDOMETRIUM ENST00000370580.1:c.485C>T p.Thr162Met p.T162M ENST00000370580 NM_003921.4 162 aCg/aTg 3/3 SUCCESS | |
| BCL10 8915 GRCh37 1 85733527 85733527 + missense_variant Missense_Mutation SNP G A rs200837308 LK2_LUNG ENST00000370580.1:c.485C>T p.Thr162Met p.T162M ENST00000370580 NM_003921.4 162 aCg/aTg 3/3 SUCCESS | |
| BCL10 8915 GRCh37 1 85733527 85733527 + missense_variant Missense_Mutation SNP G A rs200837308 OCUM1_STOMACH ENST00000370580.1:c.485C>T p.Thr162Met p.T162M ENST00000370580 NM_003921.4 162 aCg/aTg 3/3 SUCCESS | |
| BCL10 8915 GRCh37 1 85733527 85733527 + missense_variant Missense_Mutation SNP G A rs200837308 RERFGC1B_STOMACH ENST00000370580.1:c.485C>T p.Thr162Met p.T162M ENST00000370580 NM_003921.4 162 aCg/aTg 3/3 SUCCESS | |
| BCL10 8915 GRCh37 1 85733527 85733527 + missense_variant Missense_Mutation SNP G A rs200837308 RERFLCAD1_LUNG ENST00000370580.1:c.485C>T p.Thr162Met p.T162M ENST00000370580 NM_003921.4 162 aCg/aTg 3/3 SUCCESS | |
| BCL10 8915 GRCh37 1 85733527 85733527 + missense_variant Missense_Mutation SNP G A rs200837308 RMGI_OVARY ENST00000370580.1:c.485C>T p.Thr162Met p.T162M ENST00000370580 NM_003921.4 162 aCg/aTg 3/3 SUCCESS | |
| BCL10 8915 GRCh37 1 85733623 85733623 + missense_variant Missense_Mutation SNP G A rs1443772574 BT20_BREAST ENST00000370580.1:c.389C>T p.Thr130Met p.T130M ENST00000370580 NM_003921.4 130 aCg/aTg 3/3 SUCCESS | |
| BCL10 8915 GRCh37 1 85736375 85736376 + frameshift_variant Frame_Shift_Ins INS - T rs1027681039 KM12_LARGE_INTESTINE ENST00000370580.1:c.271dup p.Thr91AsnfsTer12 p.T91Nfs*12 ENST00000370580 NM_003921.4 91 aca/aAca 2/3 SUCCESS | |
| BCL10 8915 GRCh37 1 85736453 85736453 + missense_variant Missense_Mutation SNP G A MFE319_ENDOMETRIUM ENST00000370580.1:c.194C>T p.Ala65Val p.A65V ENST00000370580 NM_003921.4 65 gCt/gTt 2/3 SUCCESS | |
| BCL10 8915 GRCh37 1 85736457 85736457 + missense_variant Missense_Mutation SNP T C DU145_PROSTATE ENST00000370580.1:c.190A>G p.Arg64Gly p.R64G ENST00000370580 NM_003921.4 64 Agg/Ggg 2/3 SUCCESS | |
| BCL10 8915 GRCh37 1 85736510 85736511 + frameshift_variant Frame_Shift_Ins INS - T rs387906351 EN_ENDOMETRIUM ENST00000370580.1:c.136dup p.Ile46AsnfsTer4 p.I46Nfs*4 ENST00000370580 NM_003921.4 46 ata/aAta 2/3 SUCCESS | |
| BCL10 8915 GRCh37 1 85736510 85736511 + frameshift_variant Frame_Shift_Ins INS - T rs387906351 LOVO_LARGE_INTESTINE ENST00000370580.1:c.136dup p.Ile46AsnfsTer4 p.I46Nfs*4 ENST00000370580 NM_003921.4 46 ata/aAta 2/3 SUCCESS | |
| PKN2 5586 GRCh37 1 89206732 89206732 + missense_variant Missense_Mutation SNP C T KMBC2_URINARY_TRACT ENST00000370521.3:c.110C>T p.Ser37Leu p.S37L ENST00000370521 NM_006256.2 37 tCa/tTa 2/22 SUCCESS | |
| PKN2 5586 GRCh37 1 89206741 89206741 + missense_variant Missense_Mutation SNP T G HSC3_UPPER_AERODIGESTIVE_TRACT ENST00000370521.3:c.119T>G p.Met40Arg p.M40R ENST00000370521 NM_006256.2 40 aTg/aGg 2/22 SUCCESS | |
| PKN2 5586 GRCh37 1 89206812 89206812 + stop_gained Nonsense_Mutation SNP G T SNU81_LARGE_INTESTINE ENST00000370521.3:c.190G>T p.Glu64Ter p.E64* ENST00000370521 NM_006256.2 64 Gaa/Taa 2/22 SUCCESS | |
| PKN2 5586 GRCh37 1 89206840 89206840 + missense_variant Missense_Mutation SNP C T SNGM_ENDOMETRIUM ENST00000370521.3:c.218C>T p.Thr73Ile p.T73I ENST00000370521 NM_006256.2 73 aCa/aTa 2/22 SUCCESS | |
| PKN2 5586 GRCh37 1 89206893 89206893 + missense_variant Missense_Mutation SNP A G SCLC21H_LUNG ENST00000370521.3:c.271A>G p.Lys91Glu p.K91E ENST00000370521 NM_006256.2 91 Aaa/Gaa 2/22 SUCCESS | |
| PKN2 5586 GRCh37 1 89206914 89206914 + missense_variant Missense_Mutation SNP C T rs774201827 NCIH650_LUNG ENST00000370521.3:c.292C>T p.His98Tyr p.H98Y ENST00000370521 NM_006256.2 98 Cac/Tac 2/22 SUCCESS | |
| PKN2 5586 GRCh37 1 89236050 89236050 + missense_variant Missense_Mutation SNP G A SNU620_STOMACH ENST00000370521.3:c.520G>A p.Gly174Ser p.G174S ENST00000370521 NM_006256.2 174 Ggt/Agt 4/22 SUCCESS | |
| PKN2 5586 GRCh37 1 89236150 89236150 + missense_variant,splice_region_variant Missense_Mutation SNP A G CW2_LARGE_INTESTINE ENST00000370521.3:c.620A>G p.Asn207Ser p.N207S ENST00000370521 NM_006256.2 207 aAt/aGt 4/22 SUCCESS | |
| PKN2 5586 GRCh37 1 89237122 89237122 + missense_variant Missense_Mutation SNP C A SNU407_LARGE_INTESTINE ENST00000370521.3:c.641C>A p.Pro214His p.P214H ENST00000370521 NM_006256.2 214 cCt/cAt 5/22 SUCCESS | |
| PKN2 5586 GRCh37 1 89237127 89237127 + missense_variant Missense_Mutation SNP G C SH4_SKIN ENST00000370521.3:c.646G>C p.Glu216Gln p.E216Q ENST00000370521 NM_006256.2 216 Gaa/Caa 5/22 SUCCESS | |
| PKN2 5586 GRCh37 1 89237178 89237178 + missense_variant Missense_Mutation SNP G A EFE184_ENDOMETRIUM ENST00000370521.3:c.697G>A p.Ala233Thr p.A233T ENST00000370521 NM_006256.2 233 Gca/Aca 5/22 SUCCESS | |
| PKN2 5586 GRCh37 1 89237394 89237394 + missense_variant Missense_Mutation SNP T C EN_ENDOMETRIUM ENST00000370521.3:c.817T>C p.Tyr273His p.Y273H ENST00000370521 NM_006256.2 273 Tat/Cat 6/22 SUCCESS | |
| PKN2 5586 GRCh37 1 89237418 89237418 + missense_variant Missense_Mutation SNP G A rs768278690 MDAMB415_BREAST ENST00000370521.3:c.841G>A p.Glu281Lys p.E281K ENST00000370521 NM_006256.2 281 Gaa/Aaa 6/22 SUCCESS | |
| PKN2 5586 GRCh37 1 89250461 89250461 + missense_variant Missense_Mutation SNP T A NCIH2066_LUNG ENST00000370521.3:c.1125T>A p.Ser375Arg p.S375R ENST00000370521 NM_006256.2 375 agT/agA 7/22 SUCCESS | |
| 1 89250482 89250484 TCT TCT A172_CENTRAL_NERVOUS_SYSTEM FAILED | |
| 1 89250482 89250484 TCT TCT A498_KIDNEY FAILED | |
| 1 89250482 89250484 TCT TCT BICR6_UPPER_AERODIGESTIVE_TRACT FAILED | |
| 1 89250482 89250484 TCT TCT CAOV3_OVARY FAILED | |
| 1 89250482 89250484 TCT TCT DMS53_LUNG FAILED | |
| 1 89250482 89250484 TCT TCT DOHH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 89250482 89250484 TCT TCT DU145_PROSTATE FAILED | |
| 1 89250482 89250484 TCT TCT HCC33_LUNG FAILED | |
| 1 89250482 89250484 TCT TCT HS675T_LARGE_INTESTINE FAILED | |
| 1 89250482 89250484 TCT TCT HS742T_BREAST FAILED | |
| 1 89250482 89250484 TCT TCT KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 89250482 89250484 TCT TCT NCIH1341_LUNG FAILED | |
| 1 89250482 89250484 TCT TCT NCIH1651_LUNG FAILED | |
| 1 89250482 89250484 TCT TCT NCIH1944_LUNG FAILED | |
| 1 89250482 89250484 TCT TCT NCIH2087_LUNG FAILED | |
| 1 89250482 89250484 TCT TCT NCIH647_LUNG FAILED | |
| 1 89250482 89250484 TCT TCT NCIH82_LUNG FAILED | |
| 1 89250482 89250484 TCT TCT NCIH854_LUNG FAILED | |
| 1 89250482 89250484 TCT TCT NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 89250482 89250484 TCT TCT OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 89250482 89250484 TCT TCT PECAPJ34CLONEC12_UPPER_AERODIGESTIVE_TRACT FAILED | |
| 1 89250482 89250484 TCT TCT SKCO1_LARGE_INTESTINE FAILED | |
| 1 89250482 89250484 TCT TCT SW403_LARGE_INTESTINE FAILED | |
| 1 89250482 89250484 TCT TCT T173_BONE FAILED | |
| PKN2 5586 GRCh37 1 89251820 89251820 + missense_variant Missense_Mutation SNP C T rs373098773 NCIH1915_LUNG ENST00000370521.3:c.1205C>T p.Thr402Ile p.T402I ENST00000370521 NM_006256.2 402 aCt/aTt 8/22 SUCCESS | |
| PKN2 5586 GRCh37 1 89251858 89251858 + missense_variant Missense_Mutation SNP C G HSC3_UPPER_AERODIGESTIVE_TRACT ENST00000370521.3:c.1243C>G p.Gln415Glu p.Q415E ENST00000370521 NM_006256.2 415 Cag/Gag 8/22 SUCCESS | |
| PKN2 5586 GRCh37 1 89251891 89251891 + missense_variant Missense_Mutation SNP G T NCIH2286_LUNG ENST00000370521.3:c.1276G>T p.Asp426Tyr p.D426Y ENST00000370521 NM_006256.2 426 Gac/Tac 8/22 SUCCESS | |
| PKN2 5586 GRCh37 1 89270168 89270168 + missense_variant Missense_Mutation SNP G A HCT116_LARGE_INTESTINE ENST00000370521.3:c.1376G>A p.Arg459Gln p.R459Q ENST00000370521 NM_006256.2 459 cGg/cAg 9/22 SUCCESS | |
| PKN2 5586 GRCh37 1 89270219 89270219 + splice_donor_variant Splice_Site SNP T A NB1_AUTONOMIC_GANGLIA ENST00000370521.3:c.1425+2T>A p.X475_splice ENST00000370521 NM_006256.2 475 SUCCESS | |
| PKN2 5586 GRCh37 1 89270588 89270588 + missense_variant Missense_Mutation SNP T G ESS1_ENDOMETRIUM ENST00000370521.3:c.1485T>G p.Ile495Met p.I495M ENST00000370521 NM_006256.2 495 atT/atG 10/22 SUCCESS | |
| PKN2 5586 GRCh37 1 89270589 89270589 + missense_variant Missense_Mutation SNP T G SNU81_LARGE_INTESTINE ENST00000370521.3:c.1486T>G p.Phe496Val p.F496V ENST00000370521 NM_006256.2 496 Ttt/Gtt 10/22 SUCCESS | |
| PKN2 5586 GRCh37 1 89271178 89271178 + splice_acceptor_variant Splice_Site SNP A G SNUC5_LARGE_INTESTINE ENST00000370521.3:c.1502-2A>G p.X501_splice ENST00000370521 NM_006256.2 501 SUCCESS | |
| PKN2 5586 GRCh37 1 89271410 89271410 + intron_variant Intron SNP G A rs538179355 GP2D_LARGE_INTESTINE ENST00000370521.3:c.1676+56G>A p.*559* ENST00000370521 NM_006256.2 SUCCESS | |
| PKN2 5586 GRCh37 1 89271536 89271536 + intron_variant Intron SNP C A rs1011110485 SNU81_LARGE_INTESTINE ENST00000370521.3:c.1677-38C>A p.*559* ENST00000370521 NM_006256.2 SUCCESS | |
| PKN2 5586 GRCh37 1 89271564 89271564 + splice_polypyrimidine_tract_variant,intron_variant Splice_Region SNP C G NIHOVCAR3_OVARY ENST00000370521.3:c.1677-10C>G p.*559* ENST00000370521 NM_006256.2 SUCCESS | |
| PKN2 5586 GRCh37 1 89271564 89271564 + splice_polypyrimidine_tract_variant,intron_variant Splice_Region SNP C G ONCODG1_OVARY ENST00000370521.3:c.1677-10C>G p.*559* ENST00000370521 NM_006256.2 SUCCESS | |
| PKN2 5586 GRCh37 1 89271763 89271763 + intron_variant Intron SNP T G SKMEL28_SKIN ENST00000370521.3:c.1803+63T>G p.*601* ENST00000370521 NM_006256.2 SUCCESS | |
| PKN2 5586 GRCh37 1 89271774 89271774 + intron_variant Intron SNP G C CAL78_BONE ENST00000370521.3:c.1803+74G>C p.*601* ENST00000370521 NM_006256.2 SUCCESS | |
| 1 89279292 89279292 T T CCK81_LARGE_INTESTINE FAILED | |
| PKN2 5586 GRCh37 1 89298496 89298496 + missense_variant Missense_Mutation SNP A G rs1354714458 MKN1_STOMACH ENST00000370521.3:c.2632A>G p.Arg878Gly p.R878G ENST00000370521 NM_006256.2 878 Agg/Ggg 20/22 SUCCESS | |
| PKN2 5586 GRCh37 1 89298829 89298829 + missense_variant Missense_Mutation SNP C T EN_ENDOMETRIUM ENST00000370521.3:c.2740C>T p.Pro914Ser p.P914S ENST00000370521 NM_006256.2 914 Cca/Tca 21/22 SUCCESS | |
| PKN2 5586 GRCh37 1 89298838 89298838 + missense_variant,splice_region_variant Missense_Mutation SNP C T rs777940241 HEC108_ENDOMETRIUM ENST00000370521.3:c.2749C>T p.Arg917Trp p.R917W ENST00000370521 NM_006256.2 917 Cgg/Tgg 21/22 SUCCESS | |
| PKN2 5586 GRCh37 1 89298999 89298999 + missense_variant Missense_Mutation SNP A C DU145_PROSTATE ENST00000370521.3:c.2823A>C p.Glu941Asp p.E941D ENST00000370521 NM_006256.2 941 gaA/gaC 22/22 SUCCESS | |
| PKN2 5586 GRCh37 1 89299197 89299197 + 3_prime_UTR_variant 3'UTR SNP T C rs1010538041 BV173_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000370521.3:c.*66T>C ENST00000370521 NM_006256.2 22/22 SUCCESS | |
| 1 89299231 89299233 TTG TTG A2780_OVARY FAILED | |
| 1 91967315 91967315 T T NCIH854_LUNG FAILED | |
| 1 91967357 91967357 A A IM95_STOMACH FAILED | |
| 1 91967357 91967357 A A SNUC2A_LARGE_INTESTINE FAILED | |
| CDC7 8317 GRCh37 1 91973421 91973421 + missense_variant Missense_Mutation SNP A C SUDHL8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000234626.6:c.126A>C p.Lys42Asn p.K42N ENST00000234626 NM_001134419.1 42 aaA/aaC 3/12 SUCCESS | |
| CDC7 8317 GRCh37 1 91977228 91977228 + missense_variant Missense_Mutation SNP T G JHH5_LIVER ENST00000234626.6:c.410T>G p.Leu137Arg p.L137R ENST00000234626 NM_001134419.1 137 cTg/cGg 5/12 SUCCESS | |
| 1 91977242 91977242 T T LS180_LARGE_INTESTINE FAILED | |
| 1 91977476 91977476 A A HEC108_ENDOMETRIUM FAILED | |
| 1 91977476 91977476 A A SNU407_LARGE_INTESTINE FAILED | |
| CDC7 8317 GRCh37 1 91978719 91978719 + missense_variant Missense_Mutation SNP A G rs35652063 HCC2157_BREAST ENST00000234626.6:c.677A>G p.Asn226Ser p.N226S ENST00000234626 NM_001134419.1 226 aAc/aGc 7/12 SUCCESS | |
| CDC7 8317 GRCh37 1 91978746 91978746 + missense_variant Missense_Mutation SNP A C HEC251_ENDOMETRIUM ENST00000234626.6:c.704A>C p.Lys235Thr p.K235T ENST00000234626 NM_001134419.1 235 aAg/aCg 7/12 SUCCESS | |
| CDC7 8317 GRCh37 1 91978759 91978759 + missense_variant Missense_Mutation SNP T G RKO_LARGE_INTESTINE ENST00000234626.6:c.717T>G p.Ser239Arg p.S239R ENST00000234626 NM_001134419.1 239 agT/agG 7/12 SUCCESS | |
| CDC7 8317 GRCh37 1 91978785 91978785 + missense_variant Missense_Mutation SNP A G MFE319_ENDOMETRIUM ENST00000234626.6:c.743A>G p.Gln248Arg p.Q248R ENST00000234626 NM_001134419.1 248 cAg/cGg 7/12 SUCCESS | |
| CDC7 8317 GRCh37 1 91978797 91978797 + missense_variant Missense_Mutation SNP C G NCIH2081_LUNG ENST00000234626.6:c.755C>G p.Thr252Arg p.T252R ENST00000234626 NM_001134419.1 252 aCa/aGa 7/12 SUCCESS | |
| CDC7 8317 GRCh37 1 91978838 91978838 + missense_variant Missense_Mutation SNP C G BICR6_UPPER_AERODIGESTIVE_TRACT ENST00000234626.6:c.796C>G p.Gln266Glu p.Q266E ENST00000234626 NM_001134419.1 266 Cag/Gag 7/12 SUCCESS | |
| CDC7 8317 GRCh37 1 91979508 91979508 + missense_variant Missense_Mutation SNP G A BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000234626.6:c.826G>A p.Gly276Arg p.G276R ENST00000234626 NM_001134419.1 276 Gga/Aga 8/12 SUCCESS | |
| CDC7 8317 GRCh37 1 91979532 91979532 + missense_variant Missense_Mutation SNP C T rs769620136 SNU1040_LARGE_INTESTINE ENST00000234626.6:c.850C>T p.Arg284Cys p.R284C ENST00000234626 NM_001134419.1 284 Cgc/Tgc 8/12 SUCCESS | |
| CDC7 8317 GRCh37 1 91979558 91979558 + missense_variant Missense_Mutation SNP C A HEC251_ENDOMETRIUM ENST00000234626.6:c.876C>A p.Phe292Leu p.F292L ENST00000234626 NM_001134419.1 292 ttC/ttA 8/12 SUCCESS | |
| CDC7 8317 GRCh37 1 91979578 91979578 + missense_variant Missense_Mutation SNP C T BEN_LUNG ENST00000234626.6:c.896C>T p.Ser299Leu p.S299L ENST00000234626 NM_001134419.1 299 tCa/tTa 8/12 SUCCESS | |
| CDC7 8317 GRCh37 1 91980440 91980440 + missense_variant Missense_Mutation SNP T A HEC6_ENDOMETRIUM ENST00000234626.6:c.983T>A p.Ile328Asn p.I328N ENST00000234626 NM_001134419.1 328 aTt/aAt 9/12 SUCCESS | |
| CDC7 8317 GRCh37 1 91981359 91981359 + missense_variant Missense_Mutation SNP A T SW900_LUNG ENST00000234626.6:c.1106A>T p.Gln369Leu p.Q369L ENST00000234626 NM_001134419.1 369 cAg/cTg 10/12 SUCCESS | |
| CDC7 8317 GRCh37 1 91981400 91981400 + stop_gained Nonsense_Mutation SNP G T NCIH1573_LUNG ENST00000234626.6:c.1147G>T p.Glu383Ter p.E383* ENST00000234626 NM_001134419.1 383 Gag/Tag 10/12 SUCCESS | |
| CDC7 8317 GRCh37 1 91989843 91989843 + missense_variant Missense_Mutation SNP G C NCIH1781_LUNG ENST00000234626.6:c.1576G>C p.Asp526His p.D526H ENST00000234626 NM_001134419.1 526 Gat/Cat 12/12 SUCCESS | |
| CDC7 8317 GRCh37 1 91989918 91989918 + missense_variant Missense_Mutation SNP G C NCIH2286_LUNG ENST00000234626.6:c.1651G>C p.Asp551His p.D551H ENST00000234626 NM_001134419.1 551 Gat/Cat 12/12 SUCCESS | |
| CDC7 8317 GRCh37 1 91989964 91989964 + missense_variant Missense_Mutation SNP A G rs1047684803 SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000234626.6:c.1697A>G p.His566Arg p.H566R ENST00000234626 NM_001134419.1 566 cAt/cGt 12/12 SUCCESS | |
| CDC7 8317 GRCh37 1 91989973 91989973 + missense_variant Missense_Mutation SNP T C JHUEM7_ENDOMETRIUM ENST00000234626.6:c.1706T>C p.Phe569Ser p.F569S ENST00000234626 NM_001134419.1 569 tTt/tCt 12/12 SUCCESS | |
| CDC7 8317 GRCh37 1 91989998 91989998 + 3_prime_UTR_variant 3'UTR SNP G A rs1668156954 KMRC20_KIDNEY ENST00000234626.6:c.*6G>A ENST00000234626 NM_001134419.1 12/12 SUCCESS | |
| CDC7 8317 GRCh37 1 91990118 91990118 + 3_prime_UTR_variant 3'UTR SNP G T NCIH2286_LUNG ENST00000234626.6:c.*126G>T ENST00000234626 NM_001134419.1 12/12 SUCCESS | |
| 1 91990150 91990150 C C HCC1195_LUNG FAILED | |
| BRDT 676 GRCh37 1 92428281 92428281 + 5_prime_UTR_variant 5'UTR SNP T C HCT15_LARGE_INTESTINE ENST00000362005.3:c.-31T>C p.*11* ENST00000362005 NM_001242805.1 3/20 SUCCESS | |
| BRDT 676 GRCh37 1 92428287 92428287 + 5_prime_UTR_variant 5'UTR SNP T C HEC251_ENDOMETRIUM ENST00000362005.3:c.-25T>C p.*9* ENST00000362005 NM_001242805.1 3/20 SUCCESS | |
| BRDT 676 GRCh37 1 92428293 92428293 + 5_prime_UTR_variant 5'UTR SNP G A HEC251_ENDOMETRIUM ENST00000362005.3:c.-19G>A p.*7* ENST00000362005 NM_001242805.1 3/20 SUCCESS | |
| 1 92428315 92428316 TC TC TE125T_SOFT_TISSUE FAILED | |
| BRDT 676 GRCh37 1 92428328 92428328 + missense_variant Missense_Mutation SNP G A rs56273490 KS1_CENTRAL_NERVOUS_SYSTEM ENST00000362005.3:c.17G>A p.Arg6Gln p.R6Q ENST00000362005 NM_001242805.1 6 cGa/cAa 3/20 SUCCESS | |
| BRDT 676 GRCh37 1 92428328 92428328 + missense_variant Missense_Mutation SNP G A rs56273490 SNU1_STOMACH ENST00000362005.3:c.17G>A p.Arg6Gln p.R6Q ENST00000362005 NM_001242805.1 6 cGa/cAa 3/20 SUCCESS | |
| BRDT 676 GRCh37 1 92428412 92428412 + missense_variant Missense_Mutation SNP A G rs746497939 HS863T_BONE ENST00000362005.3:c.101A>G p.Tyr34Cys p.Y34C ENST00000362005 NM_001242805.1 34 tAt/tGt 3/20 SUCCESS | |
| BRDT 676 GRCh37 1 92430236 92430236 + missense_variant Missense_Mutation SNP G A rs749113002 GP2D_LARGE_INTESTINE ENST00000362005.3:c.245G>A p.Arg82His p.R82H ENST00000362005 NM_001242805.1 82 cGc/cAc 4/20 SUCCESS | |
| BRDT 676 GRCh37 1 92430236 92430236 + missense_variant Missense_Mutation SNP G A rs749113002 NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000362005.3:c.245G>A p.Arg82His p.R82H ENST00000362005 NM_001242805.1 82 cGc/cAc 4/20 SUCCESS | |
| BRDT 676 GRCh37 1 92441946 92441946 + missense_variant Missense_Mutation SNP A T NCIH1105_LUNG ENST00000362005.3:c.569A>T p.Asn190Ile p.N190I ENST00000362005 NM_001242805.1 190 aAc/aTc 6/20 SUCCESS | |
| BRDT 676 GRCh37 1 92441987 92441987 + missense_variant Missense_Mutation SNP G T NCIH1385_LUNG ENST00000362005.3:c.610G>T p.Ala204Ser p.A204S ENST00000362005 NM_001242805.1 204 Gcg/Tcg 6/20 SUCCESS | |
| BRDT 676 GRCh37 1 92442768 92442768 + missense_variant Missense_Mutation SNP G A rs144415460 SF295_CENTRAL_NERVOUS_SYSTEM ENST00000362005.3:c.787G>A p.Val263Ile p.V263I ENST00000362005 NM_001242805.1 263 Gtt/Att 7/20 SUCCESS | |
| BRDT 676 GRCh37 1 92442843 92442843 + missense_variant Missense_Mutation SNP C T NCIH2106_LUNG ENST00000362005.3:c.862C>T p.His288Tyr p.H288Y ENST00000362005 NM_001242805.1 288 Cat/Tat 7/20 SUCCESS | |
| BRDT 676 GRCh37 1 92442850 92442850 + missense_variant Missense_Mutation SNP C T NCIH1373_LUNG ENST00000362005.3:c.869C>T p.Ser290Leu p.S290L ENST00000362005 NM_001242805.1 290 tCa/tTa 7/20 SUCCESS | |
| BRDT 676 GRCh37 1 92442861 92442861 + missense_variant Missense_Mutation SNP C T HEC6_ENDOMETRIUM ENST00000362005.3:c.880C>T p.Pro294Ser p.P294S ENST00000362005 NM_001242805.1 294 Ccc/Tcc 7/20 SUCCESS | |
| BRDT 676 GRCh37 1 92443762 92443762 + missense_variant Missense_Mutation SNP A C rs1064567 HEC251_ENDOMETRIUM ENST00000362005.3:c.1007A>C p.Lys336Thr p.K336T ENST00000362005 NM_001242805.1 336 aAa/aCa 8/20 SUCCESS | |
| BRDT 676 GRCh37 1 92443813 92443813 + missense_variant Missense_Mutation SNP C A NCIH1623_LUNG ENST00000362005.3:c.1058C>A p.Pro353His p.P353H ENST00000362005 NM_001242805.1 353 cCt/cAt 8/20 SUCCESS | |
| BRDT 676 GRCh37 1 92443820 92443820 + missense_variant Missense_Mutation SNP T A L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000362005.3:c.1065T>A p.Asp355Glu p.D355E ENST00000362005 NM_001242805.1 355 gaT/gaA 8/20 SUCCESS | |
| BRDT 676 GRCh37 1 92443849 92443849 + missense_variant Missense_Mutation SNP T C NCIH2029_LUNG ENST00000362005.3:c.1094T>C p.Leu365Pro p.L365P ENST00000362005 NM_001242805.1 365 cTt/cCt 8/20 SUCCESS | |
| BRDT 676 GRCh37 1 92445168 92445168 + missense_variant Missense_Mutation SNP G T NCIH2342_LUNG ENST00000362005.3:c.1141G>T p.Val381Phe p.V381F ENST00000362005 NM_001242805.1 381 Gtt/Ttt 9/20 SUCCESS | |
| BRDT 676 GRCh37 1 92445193 92445193 + missense_variant Missense_Mutation SNP T A REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000362005.3:c.1166T>A p.Ile389Asn p.I389N ENST00000362005 NM_001242805.1 389 aTc/aAc 9/20 SUCCESS | |
| BRDT 676 GRCh37 1 92445247 92445247 + missense_variant Missense_Mutation SNP C G TE10_OESOPHAGUS ENST00000362005.3:c.1220C>G p.Ser407Cys p.S407C ENST00000362005 NM_001242805.1 407 tCt/tGt 9/20 SUCCESS | |
| BRDT 676 GRCh37 1 92445267 92445267 + missense_variant Missense_Mutation SNP G A BT474_BREAST ENST00000362005.3:c.1240G>A p.Asp414Asn p.D414N ENST00000362005 NM_001242805.1 414 Gat/Aat 9/20 SUCCESS | |
| BRDT 676 GRCh37 1 92445274 92445274 + missense_variant Missense_Mutation SNP A C rs759152418 ISHIKAWAHERAKLIO02ER_ENDOMETRIUM ENST00000362005.3:c.1247A>C p.Glu416Ala p.E416A ENST00000362005 NM_001242805.1 416 gAa/gCa 9/20 SUCCESS | |
| BRDT 676 GRCh37 1 92446221 92446221 + missense_variant Missense_Mutation SNP C T KM12_LARGE_INTESTINE ENST00000362005.3:c.1309C>T p.Leu437Phe p.L437F ENST00000362005 NM_001242805.1 437 Ctc/Ttc 10/20 SUCCESS | |
| BRDT 676 GRCh37 1 92446243 92446243 + missense_variant Missense_Mutation SNP C A NCIH2170_LUNG ENST00000362005.3:c.1331C>A p.Pro444His p.P444H ENST00000362005 NM_001242805.1 444 cCt/cAt 10/20 SUCCESS | |
| BRDT 676 GRCh37 1 92446270 92446270 + missense_variant Missense_Mutation SNP A C HEPG2_LIVER ENST00000362005.3:c.1358A>C p.Glu453Ala p.E453A ENST00000362005 NM_001242805.1 453 gAg/gCg 10/20 SUCCESS | |
| BRDT 676 GRCh37 1 92446300 92446300 + missense_variant Missense_Mutation SNP A T L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000362005.3:c.1388A>T p.Lys463Met p.K463M ENST00000362005 NM_001242805.1 463 aAg/aTg 10/20 SUCCESS | |
| BRDT 676 GRCh37 1 92446562 92446562 + missense_variant Missense_Mutation SNP C T NCIH1436_LUNG ENST00000362005.3:c.1577C>T p.Pro526Leu p.P526L ENST00000362005 NM_001242805.1 526 cCt/cTt 11/20 SUCCESS | |
| BRDT 676 GRCh37 1 92446564 92446564 + missense_variant Missense_Mutation SNP G A EFO27_OVARY ENST00000362005.3:c.1579G>A p.Gly527Arg p.G527R ENST00000362005 NM_001242805.1 527 Gga/Aga 11/20 SUCCESS | |
| BRDT 676 GRCh37 1 92446579 92446579 + stop_gained Nonsense_Mutation SNP C T rs969395495 K562_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000362005.3:c.1594C>T p.Arg532Ter p.R532* ENST00000362005 NM_001242805.1 532 Cga/Tga 11/20 SUCCESS | |
| BRDT 676 GRCh37 1 92446681 92446681 + stop_gained Nonsense_Mutation SNP G T HEC251_ENDOMETRIUM ENST00000362005.3:c.1696G>T p.Glu566Ter p.E566* ENST00000362005 NM_001242805.1 566 Gaa/Taa 11/20 SUCCESS | |
| BRDT 676 GRCh37 1 92446865 92446866 + frameshift_variant Frame_Shift_Ins INS - A rs761056846 MFE319_ENDOMETRIUM ENST00000362005.3:c.1797dup p.Gln600ThrfsTer11 p.Q600Tfs*11 ENST00000362005 NM_001242805.1 597 -/A 12/20 SUCCESS | |
| BRDT 676 GRCh37 1 92456780 92456780 + missense_variant Missense_Mutation SNP C A JHOM2B_OVARY ENST00000362005.3:c.2042C>A p.Ser681Tyr p.S681Y ENST00000362005 NM_001242805.1 681 tCt/tAt 14/20 SUCCESS | |
| BRDT 676 GRCh37 1 92467624 92467624 + stop_gained Nonsense_Mutation SNP C G BEN_LUNG ENST00000362005.3:c.2306C>G p.Ser769Ter p.S769* ENST00000362005 NM_001242805.1 769 tCa/tGa 17/20 SUCCESS | |
| BRDT 676 GRCh37 1 92470019 92470019 + missense_variant Missense_Mutation SNP G C HARA_LUNG ENST00000362005.3:c.2437G>C p.Val813Leu p.V813L ENST00000362005 NM_001242805.1 813 Gtg/Ctg 18/20 SUCCESS | |
| BRDT 676 GRCh37 1 92470097 92470097 + missense_variant Missense_Mutation SNP A G rs1420659736 42MGBA_CENTRAL_NERVOUS_SYSTEM ENST00000362005.3:c.2515A>G p.Lys839Glu p.K839E ENST00000362005 NM_001242805.1 839 Aaa/Gaa 18/20 SUCCESS | |
| BRDT 676 GRCh37 1 92470809 92470809 + missense_variant Missense_Mutation SNP C A CORL95_LUNG ENST00000362005.3:c.2728C>A p.Arg910Ser p.R910S ENST00000362005 NM_001242805.1 910 Cgt/Agt 19/20 SUCCESS | |
| BRDT 676 GRCh37 1 92479848 92479848 + 3_prime_UTR_variant 3'UTR SNP T C rs756909812 KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000362005.3:c.*17T>C ENST00000362005 NM_001242805.1 20/20 SUCCESS | |
| BRDT 676 GRCh37 1 92479851 92479851 + 3_prime_UTR_variant 3'UTR SNP C T rs181245384 HUH28_BILIARY_TRACT ENST00000362005.3:c.*20C>T ENST00000362005 NM_001242805.1 20/20 SUCCESS | |
| 1 92479860 92479864 TAAAA TAAAA HCC15_LUNG FAILED | |
| 1 94639389 94639391 ACA ACA HCC1438_LUNG FAILED | |
| 1 94639389 94639391 ACA ACA MDAPCA2B_PROSTATE FAILED | |
| 1 94639389 94639391 ACA ACA NCIH1373_LUNG FAILED | |
| 1 94639389 94639391 ACA ACA RKO_LARGE_INTESTINE FAILED | |
| 1 94639400 94639400 A A RKO_LARGE_INTESTINE FAILED | |
| 1 94639400 94639400 A A SNUC2A_LARGE_INTESTINE FAILED | |
| ARHGAP29 9411 GRCh37 1 94639402 94639402 + 3_prime_UTR_variant 3'UTR SNP A C rs1648902067 HS944T_SKIN ENST00000260526.6:c.*23T>G ENST00000260526 NM_004815.3 23/23 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94639451 94639451 + missense_variant Missense_Mutation SNP C T rs772383920 YD15_SALIVARY_GLAND ENST00000260526.6:c.3760G>A p.Glu1254Lys p.E1254K ENST00000260526 NM_004815.3 1254 Gaa/Aaa 23/23 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94639469 94639469 + stop_gained Nonsense_Mutation SNP G A MFE296_ENDOMETRIUM ENST00000260526.6:c.3742C>T p.Gln1248Ter p.Q1248* ENST00000260526 NM_004815.3 1248 Caa/Taa 23/23 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94639471 94639471 + missense_variant Missense_Mutation SNP A C KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000260526.6:c.3740T>G p.Met1247Arg p.M1247R ENST00000260526 NM_004815.3 1247 aTg/aGg 23/23 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94639732 94639732 + missense_variant Missense_Mutation SNP G T CW2_LARGE_INTESTINE ENST00000260526.6:c.3479C>A p.Pro1160His p.P1160H ENST00000260526 NM_004815.3 1160 cCt/cAt 23/23 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94639985 94639985 + missense_variant Missense_Mutation SNP T C NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000260526.6:c.3226A>G p.Thr1076Ala p.T1076A ENST00000260526 NM_004815.3 1076 Act/Gct 23/23 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94640021 94640021 + missense_variant Missense_Mutation SNP T C rs758203668 EN_ENDOMETRIUM ENST00000260526.6:c.3190A>G p.Thr1064Ala p.T1064A ENST00000260526 NM_004815.3 1064 Act/Gct 23/23 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94640224 94640224 + missense_variant Missense_Mutation SNP G T JHUEM7_ENDOMETRIUM ENST00000260526.6:c.2987C>A p.Ser996Tyr p.S996Y ENST00000260526 NM_004815.3 996 tCt/tAt 23/23 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94643004 94643004 + intron_variant Intron SNP A C rs531880610 NCIH1930_LUNG ENST00000260526.6:c.2905+164T>G p.*969* ENST00000260526 NM_004815.3 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94643004 94643004 + intron_variant Intron SNP A C rs531880610 SU8686_PANCREAS ENST00000260526.6:c.2905+164T>G p.*969* ENST00000260526 NM_004815.3 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94643091 94643091 + intron_variant Intron SNP C T rs113680708 PFEIFFER_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000260526.6:c.2905+77G>A p.*969* ENST00000260526 NM_004815.3 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94643143 94643144 + intron_variant Intron INS - T rs563927860 DV90_LUNG ENST00000260526.6:c.2905+24dup p.*969* ENST00000260526 NM_004815.3 SUCCESS | |
| 1 94643144 94643144 T T 2313287_STOMACH FAILED | |
| 1 94643144 94643144 T T 639V_URINARY_TRACT FAILED | |
| 1 94643144 94643144 T T AN3CA_ENDOMETRIUM FAILED | |
| 1 94643144 94643144 T T CL34_LARGE_INTESTINE FAILED | |
| 1 94643144 94643144 T T CW2_LARGE_INTESTINE FAILED | |
| 1 94643144 94643144 T T EFO27_OVARY FAILED | |
| 1 94643144 94643144 T T GP2D_LARGE_INTESTINE FAILED | |
| 1 94643144 94643144 T T HCT116_LARGE_INTESTINE FAILED | |
| 1 94643144 94643144 T T HEC108_ENDOMETRIUM FAILED | |
| 1 94643144 94643144 T T HEC151_ENDOMETRIUM FAILED | |
| 1 94643144 94643144 T T HEC59_ENDOMETRIUM FAILED | |
| 1 94643144 94643144 T T HEC6_ENDOMETRIUM FAILED | |
| 1 94643144 94643144 T T IGROV1_OVARY FAILED | |
| 1 94643144 94643144 T T IM95_STOMACH FAILED | |
| 1 94643144 94643144 T T JHUEM2_ENDOMETRIUM FAILED | |
| 1 94643144 94643144 T T KM12_LARGE_INTESTINE FAILED | |
| 1 94643144 94643144 T T LOVO_LARGE_INTESTINE FAILED | |
| 1 94643144 94643144 T T MDAPCA2B_PROSTATE FAILED | |
| 1 94643144 94643144 T T MFE319_ENDOMETRIUM FAILED | |
| 1 94643144 94643144 T T NCIH1048_LUNG FAILED | |
| 1 94643144 94643144 T T OVK18_OVARY FAILED | |
| 1 94643144 94643144 T T RKO_LARGE_INTESTINE FAILED | |
| 1 94643144 94643144 T T SNGM_ENDOMETRIUM FAILED | |
| 1 94643144 94643144 T T SNU175_LARGE_INTESTINE FAILED | |
| 1 94643144 94643144 T T SNU1_STOMACH FAILED | |
| 1 94643144 94643144 T T SNU324_PANCREAS FAILED | |
| 1 94643144 94643144 T T SNU407_LARGE_INTESTINE FAILED | |
| 1 94643144 94643144 T T SNUC2A_LARGE_INTESTINE FAILED | |
| 1 94643144 94643144 T T SNUC4_LARGE_INTESTINE FAILED | |
| 1 94643144 94643144 T T SNUC5_LARGE_INTESTINE FAILED | |
| 1 94643144 94643144 T T TGBC11TKB_STOMACH FAILED | |
| 1 94643144 94643144 T T TOV21G_OVARY FAILED | |
| 1 94643144 94643145 TT TT LS180_LARGE_INTESTINE FAILED | |
| 1 94643144 94643145 TT TT SNU1040_LARGE_INTESTINE FAILED | |
| ARHGAP29 9411 GRCh37 1 94643154 94643154 + intron_variant Intron SNP A G SNU1040_LARGE_INTESTINE ENST00000260526.6:c.2905+14T>C p.*969* ENST00000260526 NM_004815.3 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94643236 94643236 + missense_variant Missense_Mutation SNP C T rs370625624 ASPC1_PANCREAS ENST00000260526.6:c.2837G>A p.Arg946Gln p.R946Q ENST00000260526 NM_004815.3 946 cGa/cAa 22/23 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94643278 94643278 + splice_acceptor_variant Splice_Site SNP T C CL40_LARGE_INTESTINE ENST00000260526.6:c.2797-2A>G p.X933_splice ENST00000260526 NM_004815.3 933 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94643571 94643571 + missense_variant Missense_Mutation SNP A C MONOMAC6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000260526.6:c.2633T>G p.Leu878Arg p.L878R ENST00000260526 NM_004815.3 878 cTc/cGc 21/23 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94643647 94643647 + missense_variant Missense_Mutation SNP G T rs1395916283 KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000260526.6:c.2557C>A p.Pro853Thr p.P853T ENST00000260526 NM_004815.3 853 Cca/Aca 21/23 SUCCESS | |
| 1 94645419 94645419 T T SNUC5_LARGE_INTESTINE FAILED | |
| ARHGAP29 9411 GRCh37 1 94649741 94649741 + missense_variant Missense_Mutation SNP T C HEC108_ENDOMETRIUM ENST00000260526.6:c.2213A>G p.Asp738Gly p.D738G ENST00000260526 NM_004815.3 738 gAt/gGt 19/23 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94649834 94649834 + missense_variant Missense_Mutation SNP C T SNU175_LARGE_INTESTINE ENST00000260526.6:c.2120G>A p.Arg707His p.R707H ENST00000260526 NM_004815.3 707 cGt/cAt 19/23 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94650998 94650998 + missense_variant Missense_Mutation SNP G A PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000260526.6:c.1820C>T p.Ser607Leu p.S607L ENST00000260526 NM_004815.3 607 tCa/tTa 17/23 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94654391 94654391 + splice_donor_variant Splice_Site SNP A G HCC2157_BREAST ENST00000260526.6:c.1681+2T>C p.X561_splice ENST00000260526 NM_004815.3 561 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94654391 94654391 + splice_donor_variant Splice_Site SNP A G ISHIKAWAHERAKLIO02ER_ENDOMETRIUM ENST00000260526.6:c.1681+2T>C p.X561_splice ENST00000260526 NM_004815.3 561 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94654391 94654391 + splice_donor_variant Splice_Site SNP A G SNUC5_LARGE_INTESTINE ENST00000260526.6:c.1681+2T>C p.X561_splice ENST00000260526 NM_004815.3 561 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94654419 94654419 + missense_variant Missense_Mutation SNP G C HCC2157_BREAST ENST00000260526.6:c.1655C>G p.Ser552Cys p.S552C ENST00000260526 NM_004815.3 552 tCt/tGt 15/23 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94654429 94654429 + missense_variant Missense_Mutation SNP C T NCIH2106_LUNG ENST00000260526.6:c.1645G>A p.Glu549Lys p.E549K ENST00000260526 NM_004815.3 549 Gaa/Aaa 15/23 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94654441 94654441 + missense_variant Missense_Mutation SNP C T NCIH2106_LUNG ENST00000260526.6:c.1633G>A p.Gly545Arg p.G545R ENST00000260526 NM_004815.3 545 Gga/Aga 15/23 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94654456 94654456 + missense_variant Missense_Mutation SNP C T G361_SKIN ENST00000260526.6:c.1618G>A p.Asp540Asn p.D540N ENST00000260526 NM_004815.3 540 Gat/Aat 15/23 SUCCESS | |
| 1 94654492 94654492 A A CAL12T_LUNG FAILED | |
| ARHGAP29 9411 GRCh37 1 94654777 94654777 + missense_variant Missense_Mutation SNP A G rs372270954 NCIH2106_LUNG ENST00000260526.6:c.1571T>C p.Ile524Thr p.I524T ENST00000260526 NM_004815.3 524 aTa/aCa 14/23 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94654787 94654787 + missense_variant Missense_Mutation SNP T G KYSE510_OESOPHAGUS ENST00000260526.6:c.1561A>C p.Ser521Arg p.S521R ENST00000260526 NM_004815.3 521 Agt/Cgt 14/23 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94654835 94654835 + missense_variant Missense_Mutation SNP G A rs752485532 SNGM_ENDOMETRIUM ENST00000260526.6:c.1513C>T p.Arg505Cys p.R505C ENST00000260526 NM_004815.3 505 Cgc/Tgc 14/23 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94655585 94655585 + missense_variant Missense_Mutation SNP T C rs768683730 BHY_UPPER_AERODIGESTIVE_TRACT ENST00000260526.6:c.1336A>G p.Ser446Gly p.S446G ENST00000260526 NM_004815.3 446 Agt/Ggt 13/23 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94655670 94655670 + intron_variant Intron SNP C T rs765222160 SNU81_LARGE_INTESTINE ENST00000260526.6:c.1282-31G>A p.*428* ENST00000260526 NM_004815.3 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94655691 94655691 + intron_variant Intron SNP T C rs757633207 HS698T_LARGE_INTESTINE ENST00000260526.6:c.1282-52A>G p.*428* ENST00000260526 NM_004815.3 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94655725 94655725 + intron_variant Intron SNP T G SR786_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000260526.6:c.1282-86A>C p.*428* ENST00000260526 NM_004815.3 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94667477 94667477 + intron_variant Intron SNP T C rs1269953736 TE1_OESOPHAGUS ENST00000260526.6:c.1144-64A>G p.*382* ENST00000260526 NM_004815.3 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94667927 94667927 + intron_variant Intron SNP T C rs568213565 NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000260526.6:c.1143+173A>G p.*381* ENST00000260526 NM_004815.3 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94667949 94667949 + intron_variant Intron SNP G A BICR16_UPPER_AERODIGESTIVE_TRACT ENST00000260526.6:c.1143+151C>T p.*381* ENST00000260526 NM_004815.3 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94667953 94667953 + intron_variant Intron SNP T C REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000260526.6:c.1143+147A>G p.*381* ENST00000260526 NM_004815.3 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94668024 94668024 + intron_variant Intron SNP C T rs141978241 LCLC97TM1_LUNG ENST00000260526.6:c.1143+76G>A p.*381* ENST00000260526 NM_004815.3 SUCCESS | |
| 1 94668131 94668131 T T IM95_STOMACH FAILED | |
| 1 94668155 94668155 T T KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| ARHGAP29 9411 GRCh37 1 94668200 94668200 + missense_variant Missense_Mutation SNP C T rs140877322 SNU81_LARGE_INTESTINE ENST00000260526.6:c.1043G>A p.Arg348His p.R348H ENST00000260526 NM_004815.3 348 cGt/cAt 11/23 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94668282 94668282 + missense_variant Missense_Mutation SNP C A EFE184_ENDOMETRIUM ENST00000260526.6:c.961G>T p.Ala321Ser p.A321S ENST00000260526 NM_004815.3 321 Gca/Tca 11/23 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94668688 94668688 + missense_variant Missense_Mutation SNP T C rs989355352 HUPT3_PANCREAS ENST00000260526.6:c.841A>G p.Ile281Val p.I281V ENST00000260526 NM_004815.3 281 Att/Gtt 9/23 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94669545 94669545 + missense_variant Missense_Mutation SNP C G BT474_BREAST ENST00000260526.6:c.703G>C p.Glu235Gln p.E235Q ENST00000260526 NM_004815.3 235 Gag/Cag 8/23 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94670617 94670617 + stop_gained,splice_region_variant Nonsense_Mutation SNP C A NCIH2172_LUNG ENST00000260526.6:c.697G>T p.Glu233Ter p.E233* ENST00000260526 NM_004815.3 233 Gaa/Taa 7/23 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94670698 94670698 + missense_variant Missense_Mutation SNP C T rs762862612 KMRC2_KIDNEY ENST00000260526.6:c.616G>A p.Glu206Lys p.E206K ENST00000260526 NM_004815.3 206 Gag/Aag 7/23 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94685892 94685892 + missense_variant Missense_Mutation SNP A G KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000260526.6:c.262T>C p.Ser88Pro p.S88P ENST00000260526 NM_004815.3 88 Tct/Cct 3/23 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94697003 94697003 + missense_variant Missense_Mutation SNP G C COLO668_LUNG ENST00000260526.6:c.165C>G p.Phe55Leu p.F55L ENST00000260526 NM_004815.3 55 ttC/ttG 2/23 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94697150 94697150 + missense_variant Missense_Mutation SNP C G BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000260526.6:c.18G>C p.Gln6His p.Q6H ENST00000260526 NM_004815.3 6 caG/caC 2/23 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94697171 94697171 + 5_prime_UTR_variant 5'UTR SNP T C BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000260526.6:c.-4A>G p.*2* ENST00000260526 NM_004815.3 2/23 SUCCESS | |
| ARHGAP29 9411 GRCh37 1 94697194 94697194 + 5_prime_UTR_variant 5'UTR SNP G A MELJUSO_SKIN ENST00000260526.6:c.-27C>T p.*9* ENST00000260526 NM_004815.3 2/23 SUCCESS | |
| DPYD 1806 GRCh37 1 97544428 97544428 + 3_prime_UTR_variant 3'UTR SNP T C rs1570418657 SNU324_PANCREAS ENST00000370192.3:c.*104A>G ENST00000370192 NM_000110.3 23/23 SUCCESS | |
| DPYD 1806 GRCh37 1 97544465 97544465 + 3_prime_UTR_variant 3'UTR SNP C T MELJUSO_SKIN ENST00000370192.3:c.*67G>A ENST00000370192 NM_000110.3 23/23 SUCCESS | |
| DPYD 1806 GRCh37 1 97544491 97544491 + 3_prime_UTR_variant 3'UTR SNP A G REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000370192.3:c.*41T>C ENST00000370192 NM_000110.3 23/23 SUCCESS | |
| DPYD 1806 GRCh37 1 97544581 97544581 + missense_variant Missense_Mutation SNP G T HCT15_LARGE_INTESTINE ENST00000370192.3:c.3029C>A p.Pro1010His p.P1010H ENST00000370192 NM_000110.3 1010 cCt/cAt 23/23 SUCCESS | |
| DPYD 1806 GRCh37 1 97544589 97544589 + missense_variant Missense_Mutation SNP C A NCIH1105_LUNG ENST00000370192.3:c.3021G>T p.Arg1007Ser p.R1007S ENST00000370192 NM_000110.3 1007 agG/agT 23/23 SUCCESS | |
| DPYD 1806 GRCh37 1 97544618 97544618 + missense_variant Missense_Mutation SNP T A rs745982505 SNUC2A_LARGE_INTESTINE ENST00000370192.3:c.2992A>T p.Ile998Phe p.I998F ENST00000370192 NM_000110.3 998 Att/Ttt 23/23 SUCCESS | |
| DPYD 1806 GRCh37 1 97544662 97544662 + missense_variant Missense_Mutation SNP G A rs61757362 HCC2218_BREAST ENST00000370192.3:c.2948C>T p.Thr983Ile p.T983I ENST00000370192 NM_000110.3 983 aCc/aTc 23/23 SUCCESS | |
| DPYD 1806 GRCh37 1 97547914 97547914 + missense_variant Missense_Mutation SNP T C NCIH1793_LUNG ENST00000370192.3:c.2879A>G p.Tyr960Cys p.Y960C ENST00000370192 NM_000110.3 960 tAc/tGc 22/23 SUCCESS | |
| DPYD 1806 GRCh37 1 97547992 97547992 + missense_variant Missense_Mutation SNP G T RL952_ENDOMETRIUM ENST00000370192.3:c.2801C>A p.Thr934Lys p.T934K ENST00000370192 NM_000110.3 934 aCa/aAa 22/23 SUCCESS | |
| DPYD 1806 GRCh37 1 97564188 97564188 + missense_variant,splice_region_variant Missense_Mutation SNP T G rs201035051 SNU283_LARGE_INTESTINE ENST00000370192.3:c.2623A>C p.Lys875Gln p.K875Q ENST00000370192 NM_000110.3 875 Aaa/Caa 21/23 SUCCESS | |
| DPYD 1806 GRCh37 1 97658628 97658628 + missense_variant Missense_Mutation SNP G C rs775570841 CAKI1_KIDNEY ENST00000370192.3:c.2619C>G p.Asp873Glu p.D873E ENST00000370192 NM_000110.3 873 gaC/gaG 20/23 SUCCESS | |
| DPYD 1806 GRCh37 1 97658795 97658795 + missense_variant Missense_Mutation SNP C A SW620_LARGE_INTESTINE ENST00000370192.3:c.2452G>T p.Ala818Ser p.A818S ENST00000370192 NM_000110.3 818 Gcc/Tcc 20/23 SUCCESS | |
| DPYD 1806 GRCh37 1 97658803 97658803 + missense_variant,splice_region_variant Missense_Mutation SNP A T HCT15_LARGE_INTESTINE ENST00000370192.3:c.2444T>A p.Val815Glu p.V815E ENST00000370192 NM_000110.3 815 gTa/gAa 20/23 SUCCESS | |
| DPYD 1806 GRCh37 1 97700418 97700418 + missense_variant Missense_Mutation SNP G A WM88_SKIN ENST00000370192.3:c.2432C>T p.Ser811Phe p.S811F ENST00000370192 NM_000110.3 811 tCc/tTc 19/23 SUCCESS | |
| DPYD 1806 GRCh37 1 97700433 97700433 + missense_variant Missense_Mutation SNP A C IPC298_SKIN ENST00000370192.3:c.2417T>G p.Leu806Arg p.L806R ENST00000370192 NM_000110.3 806 cTc/cGc 19/23 SUCCESS | |
| DPYD 1806 GRCh37 1 97700520 97700521 + missense_variant Missense_Mutation DNP GC TA RL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000370192.3:c.2329_2330delinsTA p.Ala777Tyr p.A777Y ENST00000370192 NM_000110.3 777 GCt/TAt 19/23 SUCCESS | |
| DPYD 1806 GRCh37 1 97700547 97700547 + missense_variant Missense_Mutation SNP G T rs56005131 HEC6_ENDOMETRIUM ENST00000370192.3:c.2303C>A p.Thr768Lys p.T768K ENST00000370192 NM_000110.3 768 aCa/aAa 19/23 SUCCESS | |
| DPYD 1806 GRCh37 1 97700547 97700547 + missense_variant Missense_Mutation SNP G T rs56005131 KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000370192.3:c.2303C>A p.Thr768Lys p.T768K ENST00000370192 NM_000110.3 768 aCa/aAa 19/23 SUCCESS | |
| DPYD 1806 GRCh37 1 97700547 97700547 + missense_variant Missense_Mutation SNP G T rs56005131 NALM19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000370192.3:c.2303C>A p.Thr768Lys p.T768K ENST00000370192 NM_000110.3 768 aCa/aAa 19/23 SUCCESS | |
| DPYD 1806 GRCh37 1 97700547 97700547 + missense_variant Missense_Mutation SNP G T rs56005131 PCM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000370192.3:c.2303C>A p.Thr768Lys p.T768K ENST00000370192 NM_000110.3 768 aCa/aAa 19/23 SUCCESS | |
| DPYD 1806 GRCh37 1 97700547 97700547 + missense_variant Missense_Mutation SNP G T rs56005131 TE8_OESOPHAGUS ENST00000370192.3:c.2303C>A p.Thr768Lys p.T768K ENST00000370192 NM_000110.3 768 aCa/aAa 19/23 SUCCESS | |
| DPYD 1806 GRCh37 1 97770838 97770838 + missense_variant Missense_Mutation SNP C T rs267598786 HEC59_ENDOMETRIUM ENST00000370192.3:c.2276G>A p.Arg759Gln p.R759Q ENST00000370192 NM_000110.3 759 cGa/cAa 18/23 SUCCESS | |
| DPYD 1806 GRCh37 1 97770920 97770920 + missense_variant Missense_Mutation SNP C A NCIH1568_LUNG ENST00000370192.3:c.2194G>T p.Val732Phe p.V732F ENST00000370192 NM_000110.3 732 Gtt/Ttt 18/23 SUCCESS | |
| 1 97771791 97771791 A A COLO684_ENDOMETRIUM FAILED | |
| 1 97771791 97771791 A A DV90_LUNG FAILED | |
| 1 97771791 97771791 A A HEC108_ENDOMETRIUM FAILED | |
| 1 97771791 97771791 A A NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 97771791 97771791 A A SNUC5_LARGE_INTESTINE FAILED | |
| 1 97771791 97771791 A A TGBC11TKB_STOMACH FAILED | |
| 1 97771791 97771791 A A TOV21G_OVARY FAILED | |
| DPYD 1806 GRCh37 1 97771799 97771799 + missense_variant Missense_Mutation SNP G A MEWO_SKIN ENST00000370192.3:c.2113C>T p.Pro705Ser p.P705S ENST00000370192 NM_000110.3 705 Cct/Tct 17/23 SUCCESS | |
| DPYD 1806 GRCh37 1 97839134 97839134 + missense_variant Missense_Mutation SNP C A HCC827_LUNG ENST00000370192.3:c.2041G>T p.Gly681Cys p.G681C ENST00000370192 NM_000110.3 681 Ggc/Tgc 16/23 SUCCESS | |
| DPYD 1806 GRCh37 1 97839142 97839142 + missense_variant Missense_Mutation SNP C T A498_KIDNEY ENST00000370192.3:c.2033G>A p.Arg678Lys p.R678K ENST00000370192 NM_000110.3 678 aGa/aAa 16/23 SUCCESS | |
| DPYD 1806 GRCh37 1 97839177 97839177 + missense_variant Missense_Mutation SNP C G T84_LARGE_INTESTINE ENST00000370192.3:c.1998G>C p.Glu666Asp p.E666D ENST00000370192 NM_000110.3 666 gaG/gaC 16/23 SUCCESS | |
| DPYD 1806 GRCh37 1 97847978 97847978 + missense_variant Missense_Mutation SNP C T MDAMB453_BREAST ENST00000370192.3:c.1945G>A p.Asp649Asn p.D649N ENST00000370192 NM_000110.3 649 Gac/Aac 15/23 SUCCESS | |
| DPYD 1806 GRCh37 1 97915724 97915724 + missense_variant Missense_Mutation SNP A G rs147601618 BV173_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000370192.3:c.1796T>C p.Met599Thr p.M599T ENST00000370192 NM_000110.3 599 aTg/aCg 14/23 SUCCESS | |
| DPYD 1806 GRCh37 1 97981485 97981485 + missense_variant Missense_Mutation SNP C A L33_PANCREAS ENST00000370192.3:c.1537G>T p.Ala513Ser p.A513S ENST00000370192 NM_000110.3 513 Gct/Tct 13/23 SUCCESS | |
| DPYD 1806 GRCh37 1 97981498 97981498 + splice_acceptor_variant Splice_Site SNP C T rs766535034 NCIH1876_LUNG ENST00000370192.3:c.1525-1G>A p.X509_splice ENST00000370192 NM_000110.3 509 SUCCESS | |
| DPYD 1806 GRCh37 1 98015287 98015287 + missense_variant Missense_Mutation SNP C A COLO783_SKIN ENST00000370192.3:c.1353G>T p.Leu451Phe p.L451F ENST00000370192 NM_000110.3 451 ttG/ttT 12/23 SUCCESS | |
| DPYD 1806 GRCh37 1 98039321 98039321 + missense_variant Missense_Mutation SNP G A rs763984510 TEN_ENDOMETRIUM ENST00000370192.3:c.1334C>T p.Pro445Leu p.P445L ENST00000370192 NM_000110.3 445 cCt/cTt 11/23 SUCCESS | |
| DPYD 1806 GRCh37 1 98039412 98039412 + stop_gained Nonsense_Mutation SNP C A rs755031341 SNU407_LARGE_INTESTINE ENST00000370192.3:c.1243G>T p.Glu415Ter p.E415* ENST00000370192 NM_000110.3 415 Gaa/Taa 11/23 SUCCESS | |
| DPYD 1806 GRCh37 1 98039412 98039412 + stop_gained Nonsense_Mutation SNP C A rs755031341 SNU5_STOMACH ENST00000370192.3:c.1243G>T p.Glu415Ter p.E415* ENST00000370192 NM_000110.3 415 Gaa/Taa 11/23 SUCCESS | |
| DPYD 1806 GRCh37 1 98039414 98039414 + missense_variant Missense_Mutation SNP T C rs778867644 BFTC909_KIDNEY ENST00000370192.3:c.1241A>G p.Asp414Gly p.D414G ENST00000370192 NM_000110.3 414 gAt/gGt 11/23 SUCCESS | |
| DPYD 1806 GRCh37 1 98039426 98039426 + missense_variant Missense_Mutation SNP C T rs199646142 MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000370192.3:c.1229G>A p.Arg410Gln p.R410Q ENST00000370192 NM_000110.3 410 cGg/cAg 11/23 SUCCESS | |
| DPYD 1806 GRCh37 1 98039474 98039474 + missense_variant Missense_Mutation SNP C T rs143815742 SNU175_LARGE_INTESTINE ENST00000370192.3:c.1181G>A p.Arg394Gln p.R394Q ENST00000370192 NM_000110.3 394 cGg/cAg 11/23 SUCCESS | |
| DPYD 1806 GRCh37 1 98039478 98039478 + missense_variant Missense_Mutation SNP G C NCIH929_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000370192.3:c.1177C>G p.Pro393Ala p.P393A ENST00000370192 NM_000110.3 393 Cca/Gca 11/23 SUCCESS | |
| DPYD 1806 GRCh37 1 98058857 98058857 + missense_variant Missense_Mutation SNP T C NCIH2081_LUNG ENST00000370192.3:c.1045A>G p.Thr349Ala p.T349A ENST00000370192 NM_000110.3 349 Aca/Gca 10/23 SUCCESS | |
| DPYD 1806 GRCh37 1 98058899 98058899 + missense_variant Missense_Mutation SNP C T rs72549306 HS739T_BREAST ENST00000370192.3:c.1003G>A p.Val335Met p.V335M ENST00000370192 NM_000110.3 335 Gtg/Atg 10/23 SUCCESS | |
| DPYD 1806 GRCh37 1 98058899 98058899 + missense_variant Missense_Mutation SNP C T rs72549306 LI7_LIVER ENST00000370192.3:c.1003G>A p.Val335Met p.V335M ENST00000370192 NM_000110.3 335 Gtg/Atg 10/23 SUCCESS | |
| DPYD 1806 GRCh37 1 98058908 98058908 + missense_variant Missense_Mutation SNP G A rs757994597 RMUGS_OVARY ENST00000370192.3:c.994C>T p.Arg332Trp p.R332W ENST00000370192 NM_000110.3 332 Cgg/Tgg 10/23 SUCCESS | |
| DPYD 1806 GRCh37 1 98060636 98060636 + missense_variant Missense_Mutation SNP C A GI1_CENTRAL_NERVOUS_SYSTEM ENST00000370192.3:c.937G>T p.Val313Leu p.V313L ENST00000370192 NM_000110.3 313 Gta/Tta 9/23 SUCCESS | |
| DPYD 1806 GRCh37 1 98060663 98060663 + missense_variant Missense_Mutation SNP A G rs183105782 SNU398_LIVER ENST00000370192.3:c.910T>C p.Tyr304His p.Y304H ENST00000370192 NM_000110.3 304 Tat/Cat 9/23 SUCCESS | |
| DPYD 1806 GRCh37 1 98060669 98060669 + missense_variant Missense_Mutation SNP C A NCIH1435_LUNG ENST00000370192.3:c.904G>T p.Gly302Trp p.G302W ENST00000370192 NM_000110.3 302 Ggg/Tgg 9/23 SUCCESS | |
| DPYD 1806 GRCh37 1 98157323 98157323 + missense_variant Missense_Mutation SNP A T LOVO_LARGE_INTESTINE ENST00000370192.3:c.712T>A p.Tyr238Asn p.Y238N ENST00000370192 NM_000110.3 238 Tat/Aat 7/23 SUCCESS | |
| DPYD 1806 GRCh37 1 98157337 98157337 + missense_variant Missense_Mutation SNP T A HCC1195_LUNG ENST00000370192.3:c.698A>T p.Gln233Leu p.Q233L ENST00000370192 NM_000110.3 233 cAg/cTg 7/23 SUCCESS | |
| DPYD 1806 GRCh37 1 98164916 98164916 + missense_variant Missense_Mutation SNP C A NCIH2170_LUNG ENST00000370192.3:c.671G>T p.Gly224Val p.G224V ENST00000370192 NM_000110.3 224 gGt/gTt 6/23 SUCCESS | |
| DPYD 1806 GRCh37 1 98165072 98165072 + missense_variant Missense_Mutation SNP C A rs1362577672 SNU216_STOMACH ENST00000370192.3:c.515G>T p.Arg172Ile p.R172I ENST00000370192 NM_000110.3 172 aGa/aTa 6/23 SUCCESS | |
| DPYD 1806 GRCh37 1 98187098 98187098 + missense_variant Missense_Mutation SNP T C rs200562975 TGBC11TKB_STOMACH ENST00000370192.3:c.451A>G p.Asn151Asp p.N151D ENST00000370192 NM_000110.3 151 Aat/Gat 5/23 SUCCESS | |
| DPYD 1806 GRCh37 1 98187184 98187184 + missense_variant Missense_Mutation SNP A G RKO_LARGE_INTESTINE ENST00000370192.3:c.365T>C p.Leu122Pro p.L122P ENST00000370192 NM_000110.3 122 cTt/cCt 5/23 SUCCESS | |
| DPYD 1806 GRCh37 1 98205986 98205986 + missense_variant Missense_Mutation SNP G A COLO792_SKIN ENST00000370192.3:c.283C>T p.Leu95Phe p.L95F ENST00000370192 NM_000110.3 95 Ctt/Ttt 4/23 SUCCESS | |
| DPYD 1806 GRCh37 1 98293716 98293716 + missense_variant Missense_Mutation SNP T C rs367619008 HS746T_STOMACH ENST00000370192.3:c.187A>G p.Lys63Glu p.K63E ENST00000370192 NM_000110.3 63 Aag/Gag 3/23 SUCCESS | |
| DPYD 1806 GRCh37 1 98293722 98293722 + missense_variant Missense_Mutation SNP C T rs1557992438 SNU466_CENTRAL_NERVOUS_SYSTEM ENST00000370192.3:c.181G>A p.Asp61Asn p.D61N ENST00000370192 NM_000110.3 61 Gac/Aac 3/23 SUCCESS | |
| DPYD 1806 GRCh37 1 98293733 98293733 + missense_variant Missense_Mutation SNP T C BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000370192.3:c.170A>G p.Asn57Ser p.N57S ENST00000370192 NM_000110.3 57 aAt/aGt 3/23 SUCCESS | |
| DPYD 1806 GRCh37 1 98293735 98293735 + missense_variant Missense_Mutation SNP C A JHUEM7_ENDOMETRIUM ENST00000370192.3:c.168G>T p.Glu56Asp p.E56D ENST00000370192 NM_000110.3 56 gaG/gaT 3/23 SUCCESS | |
| DPYD 1806 GRCh37 1 98348884 98348884 + missense_variant Missense_Mutation SNP C T rs528768620 CAL78_BONE ENST00000370192.3:c.86G>A p.Arg29His p.R29H ENST00000370192 NM_000110.3 29 cGt/cAt 2/23 SUCCESS | |
| DPYD 1806 GRCh37 1 98348884 98348885 + missense_variant Missense_Mutation DNP CG TA SKMEL3_SKIN ENST00000370192.3:c.85_86delinsTA p.Arg29Tyr p.R29Y ENST00000370192 NM_000110.3 29 CGt/TAt 2/23 SUCCESS | |
| DPYD 1806 GRCh37 1 98386468 98386468 + missense_variant Missense_Mutation SNP A G HS944T_SKIN ENST00000370192.3:c.11T>C p.Val4Ala p.V4A ENST00000370192 NM_000110.3 4 gTg/gCg 1/23 SUCCESS | |
| DPYD 1806 GRCh37 1 98386496 98386496 + 5_prime_UTR_variant 5'UTR SNP C G rs577136443 A498_KIDNEY ENST00000370192.3:c.-18G>C p.*6* ENST00000370192 NM_000110.3 1/23 SUCCESS | |
| DPYD 1806 GRCh37 1 98386561 98386561 + 5_prime_UTR_variant 5'UTR SNP G A LNCAPCLONEFGC_PROSTATE ENST00000370192.3:c.-83C>T p.*28* ENST00000370192 NM_000110.3 1/23 SUCCESS | |
| DPYD 1806 GRCh37 1 98386586 98386586 + upstream_gene_variant 5'Flank SNP A G rs886046581 HT144_SKIN ENST00000370192 NM_000110.3 SUCCESS | |
| RBM15 64783 GRCh37 1 110881963 110881963 + 5_prime_UTR_variant 5'UTR SNP G C rs577179932 HCC1195_LUNG ENST00000369784.3:c.-65G>C p.*22* ENST00000369784 NM_022768.4 1/3 SUCCESS | |
| RBM15 64783 GRCh37 1 110882092 110882092 + missense_variant Missense_Mutation SNP T C rs750584732 HCC2279_LUNG ENST00000369784.3:c.65T>C p.Leu22Pro p.L22P ENST00000369784 NM_022768.4 22 cTg/cCg 1/3 SUCCESS | |
| RBM15 64783 GRCh37 1 110882092 110882092 + missense_variant Missense_Mutation SNP T C rs750584732 HEC50B_ENDOMETRIUM ENST00000369784.3:c.65T>C p.Leu22Pro p.L22P ENST00000369784 NM_022768.4 22 cTg/cCg 1/3 SUCCESS | |
| 1 110882115 110882123 CGGGTTACT CGGGTTACT NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| RBM15 64783 GRCh37 1 110882335 110882335 + missense_variant Missense_Mutation SNP C T KM12_LARGE_INTESTINE ENST00000369784.3:c.308C>T p.Ser103Phe p.S103F ENST00000369784 NM_022768.4 103 tCc/tTc 1/3 SUCCESS | |
| RBM15 64783 GRCh37 1 110882362 110882362 + missense_variant Missense_Mutation SNP A G EN_ENDOMETRIUM ENST00000369784.3:c.335A>G p.Tyr112Cys p.Y112C ENST00000369784 NM_022768.4 112 tAt/tGt 1/3 SUCCESS | |
| RBM15 64783 GRCh37 1 110882472 110882472 + missense_variant Missense_Mutation SNP G T KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369784.3:c.445G>T p.Gly149Trp p.G149W ENST00000369784 NM_022768.4 149 Ggg/Tgg 1/3 SUCCESS | |
| RBM15 64783 GRCh37 1 110882499 110882499 + missense_variant Missense_Mutation SNP T G rs200933258 GCT_SOFT_TISSUE ENST00000369784.3:c.472T>G p.Ser158Ala p.S158A ENST00000369784 NM_022768.4 158 Tcc/Gcc 1/3 SUCCESS | |
| RBM15 64783 GRCh37 1 110882499 110882499 + missense_variant Missense_Mutation SNP T G rs200933258 NCIH2029_LUNG ENST00000369784.3:c.472T>G p.Ser158Ala p.S158A ENST00000369784 NM_022768.4 158 Tcc/Gcc 1/3 SUCCESS | |
| RBM15 64783 GRCh37 1 110882588 110882588 + missense_variant Missense_Mutation SNP G C MKN1_STOMACH ENST00000369784.3:c.561G>C p.Glu187Asp p.E187D ENST00000369784 NM_022768.4 187 gaG/gaC 1/3 SUCCESS | |
| RBM15 64783 GRCh37 1 110882686 110882686 + missense_variant Missense_Mutation SNP T C REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369784.3:c.659T>C p.Val220Ala p.V220A ENST00000369784 NM_022768.4 220 gTg/gCg 1/3 SUCCESS | |
| RBM15 64783 GRCh37 1 110883238 110883238 + missense_variant Missense_Mutation SNP A T HEC1A_ENDOMETRIUM ENST00000369784.3:c.1211A>T p.Asp404Val p.D404V ENST00000369784 NM_022768.4 404 gAt/gTt 1/3 SUCCESS | |
| RBM15 64783 GRCh37 1 110883271 110883271 + missense_variant Missense_Mutation SNP C A CW2_LARGE_INTESTINE ENST00000369784.3:c.1244C>A p.Thr415Asn p.T415N ENST00000369784 NM_022768.4 415 aCt/aAt 1/3 SUCCESS | |
| RBM15 64783 GRCh37 1 110883315 110883315 + missense_variant Missense_Mutation SNP G A EFM19_BREAST ENST00000369784.3:c.1288G>A p.Ala430Thr p.A430T ENST00000369784 NM_022768.4 430 Gcc/Acc 1/3 SUCCESS | |
| RBM15 64783 GRCh37 1 110883331 110883331 + missense_variant Missense_Mutation SNP C A NCIH69_LUNG ENST00000369784.3:c.1304C>A p.Ser435Tyr p.S435Y ENST00000369784 NM_022768.4 435 tCt/tAt 1/3 SUCCESS | |
| RBM15 64783 GRCh37 1 110883402 110883402 + missense_variant Missense_Mutation SNP G A KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369784.3:c.1375G>A p.Val459Met p.V459M ENST00000369784 NM_022768.4 459 Gtg/Atg 1/3 SUCCESS | |
| RBM15 64783 GRCh37 1 110883519 110883519 + missense_variant Missense_Mutation SNP G A HEC59_ENDOMETRIUM ENST00000369784.3:c.1492G>A p.Glu498Lys p.E498K ENST00000369784 NM_022768.4 498 Gaa/Aaa 1/3 SUCCESS | |
| RBM15 64783 GRCh37 1 110883586 110883586 + missense_variant Missense_Mutation SNP G A MDAMB453_BREAST ENST00000369784.3:c.1559G>A p.Arg520Gln p.R520Q ENST00000369784 NM_022768.4 520 cGa/cAa 1/3 SUCCESS | |
| RBM15 64783 GRCh37 1 110883903 110883903 + missense_variant Missense_Mutation SNP G A HT115_LARGE_INTESTINE ENST00000369784.3:c.1876G>A p.Asp626Asn p.D626N ENST00000369784 NM_022768.4 626 Gac/Aac 1/3 SUCCESS | |
| RBM15 64783 GRCh37 1 110883943 110883943 + missense_variant Missense_Mutation SNP C A HEC151_ENDOMETRIUM ENST00000369784.3:c.1916C>A p.Pro639His p.P639H ENST00000369784 NM_022768.4 639 cCt/cAt 1/3 SUCCESS | |
| 1 110884036 110884038 CTC CTC SNU1_STOMACH FAILED | |
| RBM15 64783 GRCh37 1 110884149 110884149 + missense_variant Missense_Mutation SNP A G TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369784.3:c.2122A>G p.Ser708Gly p.S708G ENST00000369784 NM_022768.4 708 Agt/Ggt 1/3 SUCCESS | |
| RBM15 64783 GRCh37 1 110884222 110884222 + missense_variant Missense_Mutation SNP G A rs533597691 NCIH1436_LUNG ENST00000369784.3:c.2195G>A p.Arg732Gln p.R732Q ENST00000369784 NM_022768.4 732 cGg/cAg 1/3 SUCCESS | |
| RBM15 64783 GRCh37 1 110884237 110884237 + missense_variant Missense_Mutation SNP C T PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369784.3:c.2210C>T p.Thr737Ile p.T737I ENST00000369784 NM_022768.4 737 aCt/aTt 1/3 SUCCESS | |
| 1 110884261 110884263 AAG AAG PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| RBM15 64783 GRCh37 1 110884303 110884303 + missense_variant Missense_Mutation SNP C T CAL148_BREAST ENST00000369784.3:c.2276C>T p.Ala759Val p.A759V ENST00000369784 NM_022768.4 759 gCt/gTt 1/3 SUCCESS | |
| RBM15 64783 GRCh37 1 110884321 110884321 + missense_variant Missense_Mutation SNP C A NCIH1793_LUNG ENST00000369784.3:c.2294C>A p.Ser765Tyr p.S765Y ENST00000369784 NM_022768.4 765 tCc/tAc 1/3 SUCCESS | |
| RBM15 64783 GRCh37 1 110884617 110884617 + missense_variant Missense_Mutation SNP C T NCIH1781_LUNG ENST00000369784.3:c.2590C>T p.Pro864Ser p.P864S ENST00000369784 NM_022768.4 864 Cct/Tct 1/3 SUCCESS | |
| RBM15 64783 GRCh37 1 110884768 110884768 + missense_variant Missense_Mutation SNP A G rs759011847 KALS1_CENTRAL_NERVOUS_SYSTEM ENST00000369784.3:c.2741A>G p.Lys914Arg p.K914R ENST00000369784 NM_022768.4 914 aAg/aGg 1/3 SUCCESS | |
| RBM15 64783 GRCh37 1 110884848 110884848 + missense_variant Missense_Mutation SNP G A SNU1040_LARGE_INTESTINE ENST00000369784.3:c.2821G>A p.Ala941Thr p.A941T ENST00000369784 NM_022768.4 941 Gcc/Acc 1/3 SUCCESS | |
| RBM15 64783 GRCh37 1 110888176 110888176 + missense_variant Missense_Mutation SNP T C rs750540210 LMSU_STOMACH ENST00000369784.3:c.2879T>C p.Ile960Thr p.I960T ENST00000369784 NM_022768.4 960 aTa/aCa 2/3 SUCCESS | |
| RBM15 64783 GRCh37 1 110888192 110888192 + missense_variant Missense_Mutation SNP G T ESS1_ENDOMETRIUM ENST00000369784.3:c.2895G>T p.Glu965Asp p.E965D ENST00000369784 NM_022768.4 965 gaG/gaT 2/3 SUCCESS | |
| PTPN22 26191 GRCh37 1 114357391 114357391 + 3_prime_UTR_variant 3'UTR SNP T C rs1661031364 KMRC20_KIDNEY ENST00000359785.5:c.*136A>G ENST00000359785 NM_015967.5 21/21 SUCCESS | |
| PTPN22 26191 GRCh37 1 114357391 114357391 + 3_prime_UTR_variant 3'UTR SNP T C rs1661031364 TCCPAN2_PANCREAS ENST00000359785.5:c.*136A>G ENST00000359785 NM_015967.5 21/21 SUCCESS | |
| PTPN22 26191 GRCh37 1 114357446 114357446 + 3_prime_UTR_variant 3'UTR SNP A G HT115_LARGE_INTESTINE ENST00000359785.5:c.*81T>C ENST00000359785 NM_015967.5 21/21 SUCCESS | |
| PTPN22 26191 GRCh37 1 114362025 114362025 + intron_variant Intron SNP G A NCIH2009_LUNG ENST00000359785.5:c.2359+174C>T p.*787* ENST00000359785 NM_015967.5 SUCCESS | |
| PTPN22 26191 GRCh37 1 114362055 114362056 + intron_variant Intron INS - A SNU175_LARGE_INTESTINE ENST00000359785.5:c.2359+143_2359+144insT p.*787* ENST00000359785 NM_015967.5 SUCCESS | |
| PTPN22 26191 GRCh37 1 114362073 114362073 + intron_variant Intron SNP G A SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000359785.5:c.2359+126C>T p.*787* ENST00000359785 NM_015967.5 SUCCESS | |
| PTPN22 26191 GRCh37 1 114362095 114362095 + intron_variant Intron SNP A G 2313287_STOMACH ENST00000359785.5:c.2359+104T>C p.*787* ENST00000359785 NM_015967.5 SUCCESS | |
| PTPN22 26191 GRCh37 1 114362211 114362211 + missense_variant Missense_Mutation SNP A T SNU620_STOMACH ENST00000359785.5:c.2347T>A p.Phe783Ile p.F783I ENST00000359785 NM_015967.5 783 Ttt/Att 20/21 SUCCESS | |
| PTPN22 26191 GRCh37 1 114362264 114362265 + frameshift_variant Frame_Shift_Ins INS - A YD38_UPPER_AERODIGESTIVE_TRACT ENST00000359785.5:c.2293dup p.Ser765PhefsTer15 p.S765Ffs*15 ENST00000359785 NM_015967.5 765 tct/tTct 20/21 SUCCESS | |
| PTPN22 26191 GRCh37 1 114372242 114372242 + missense_variant Missense_Mutation SNP G A JHUEM7_ENDOMETRIUM ENST00000359785.5:c.2222C>T p.Thr741Ile p.T741I ENST00000359785 NM_015967.5 741 aCt/aTt 18/21 SUCCESS | |
| PTPN22 26191 GRCh37 1 114372597 114372597 + missense_variant Missense_Mutation SNP T G NCIH1781_LUNG ENST00000359785.5:c.2108A>C p.Glu703Ala p.E703A ENST00000359785 NM_015967.5 703 gAg/gCg 17/21 SUCCESS | |
| PTPN22 26191 GRCh37 1 114372622 114372622 + missense_variant Missense_Mutation SNP G A rs1311657378 RL952_ENDOMETRIUM ENST00000359785.5:c.2083C>T p.Pro695Ser p.P695S ENST00000359785 NM_015967.5 695 Cct/Tct 17/21 SUCCESS | |
| PTPN22 26191 GRCh37 1 114372640 114372640 + missense_variant Missense_Mutation SNP C T NCIH727_LUNG ENST00000359785.5:c.2065G>A p.Asp689Asn p.D689N ENST00000359785 NM_015967.5 689 Gat/Aat 17/21 SUCCESS | |
| PTPN22 26191 GRCh37 1 114375593 114375593 + intron_variant Intron SNP G A rs948253928 HS281T_BREAST ENST00000359785.5:c.2053+140C>T p.*685* ENST00000359785 NM_015967.5 SUCCESS | |
| PTPN22 26191 GRCh37 1 114375722 114375722 + intron_variant Intron SNP G T rs754596513 JHUEM7_ENDOMETRIUM ENST00000359785.5:c.2053+11C>A p.*685* ENST00000359785 NM_015967.5 SUCCESS | |
| PTPN22 26191 GRCh37 1 114375754 114375754 + missense_variant Missense_Mutation SNP T C MEWO_SKIN ENST00000359785.5:c.2032A>G p.Lys678Glu p.K678E ENST00000359785 NM_015967.5 678 Aaa/Gaa 16/21 SUCCESS | |
| PTPN22 26191 GRCh37 1 114377062 114377062 + splice_acceptor_variant Splice_Site SNP C A NCIH1341_LUNG ENST00000359785.5:c.1895-1G>T p.X632_splice ENST00000359785 NM_015967.5 632 SUCCESS | |
| PTPN22 26191 GRCh37 1 114377582 114377582 + missense_variant Missense_Mutation SNP G A rs1257149718 VMRCRCW_KIDNEY ENST00000359785.5:c.1844C>T p.Pro615Leu p.P615L ENST00000359785 NM_015967.5 615 cCt/cTt 14/21 SUCCESS | |
| PTPN22 26191 GRCh37 1 114380395 114380395 + missense_variant Missense_Mutation SNP T G HEC251_ENDOMETRIUM ENST00000359785.5:c.1627A>C p.Ser543Arg p.S543R ENST00000359785 NM_015967.5 543 Agt/Cgt 13/21 SUCCESS | |
| PTPN22 26191 GRCh37 1 114380419 114380419 + missense_variant Missense_Mutation SNP G A MELJUSO_SKIN ENST00000359785.5:c.1603C>T p.Pro535Ser p.P535S ENST00000359785 NM_015967.5 535 Cct/Tct 13/21 SUCCESS | |
| PTPN22 26191 GRCh37 1 114380469 114380469 + missense_variant Missense_Mutation SNP T C rs150552386 SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000359785.5:c.1553A>G p.His518Arg p.H518R ENST00000359785 NM_015967.5 518 cAt/cGt 13/21 SUCCESS | |
| PTPN22 26191 GRCh37 1 114380493 114380493 + missense_variant Missense_Mutation SNP C T rs202143877 T84_LARGE_INTESTINE ENST00000359785.5:c.1529G>A p.Arg510His p.R510H ENST00000359785 NM_015967.5 510 cGt/cAt 13/21 SUCCESS | |
| PTPN22 26191 GRCh37 1 114380544 114380544 + missense_variant Missense_Mutation SNP G T LNCAPCLONEFGC_PROSTATE ENST00000359785.5:c.1478C>A p.Ser493Tyr p.S493Y ENST00000359785 NM_015967.5 493 tCt/tAt 13/21 SUCCESS | |
| PTPN22 26191 GRCh37 1 114380623 114380623 + missense_variant Missense_Mutation SNP C T MEWO_SKIN ENST00000359785.5:c.1399G>A p.Glu467Lys p.E467K ENST00000359785 NM_015967.5 467 Gaa/Aaa 13/21 SUCCESS | |
| PTPN22 26191 GRCh37 1 114380865 114380865 + missense_variant Missense_Mutation SNP C A YD10B_UPPER_AERODIGESTIVE_TRACT ENST00000359785.5:c.1157G>T p.Ser386Ile p.S386I ENST00000359785 NM_015967.5 386 aGt/aTt 13/21 SUCCESS | |
| PTPN22 26191 GRCh37 1 114380878 114380878 + stop_gained Nonsense_Mutation SNP C A NCIH2286_LUNG ENST00000359785.5:c.1144G>T p.Glu382Ter p.E382* ENST00000359785 NM_015967.5 382 Gag/Tag 13/21 SUCCESS | |
| PTPN22 26191 GRCh37 1 114380892 114380892 + missense_variant Missense_Mutation SNP G T HEC251_ENDOMETRIUM ENST00000359785.5:c.1130C>A p.Ser377Tyr p.S377Y ENST00000359785 NM_015967.5 377 tCt/tAt 13/21 SUCCESS | |
| PTPN22 26191 GRCh37 1 114380939 114380939 + missense_variant Missense_Mutation SNP T C SNU81_LARGE_INTESTINE ENST00000359785.5:c.1083A>G p.Ile361Met p.I361M ENST00000359785 NM_015967.5 361 atA/atG 13/21 SUCCESS | |
| PTPN22 26191 GRCh37 1 114380974 114380974 + stop_gained Nonsense_Mutation SNP C A JHUEM7_ENDOMETRIUM ENST00000359785.5:c.1048G>T p.Glu350Ter p.E350* ENST00000359785 NM_015967.5 350 Gaa/Taa 13/21 SUCCESS | |
| PTPN22 26191 GRCh37 1 114381009 114381010 + frameshift_variant Frame_Shift_Ins INS - T SNU1214_UPPER_AERODIGESTIVE_TRACT ENST00000359785.5:c.1012dup p.Met338AsnfsTer18 p.M338Nfs*18 ENST00000359785 NM_015967.5 338 atg/aAtg 13/21 SUCCESS | |
| PTPN22 26191 GRCh37 1 114381222 114381222 + missense_variant Missense_Mutation SNP A C HS821T_BONE ENST00000359785.5:c.936T>G p.Ile312Met p.I312M ENST00000359785 NM_015967.5 312 atT/atG 12/21 SUCCESS | |
| PTPN22 26191 GRCh37 1 114391241 114391241 + missense_variant Missense_Mutation SNP T C SNU119_OVARY ENST00000359785.5:c.836A>G p.Tyr279Cys p.Y279C ENST00000359785 NM_015967.5 279 tAt/tGt 11/21 SUCCESS | |
| PTPN22 26191 GRCh37 1 114394683 114394683 + missense_variant Missense_Mutation SNP A T NCIH1944_LUNG ENST00000359785.5:c.794T>A p.Met265Lys p.M265K ENST00000359785 NM_015967.5 265 aTg/aAg 10/21 SUCCESS | |
| PTPN22 26191 GRCh37 1 114397113 114397113 + missense_variant Missense_Mutation SNP A G LU65_LUNG ENST00000359785.5:c.730T>C p.Trp244Arg p.W244R ENST00000359785 NM_015967.5 244 Tgg/Cgg 9/21 SUCCESS | |
| PTPN22 26191 GRCh37 1 114397148 114397148 + missense_variant Missense_Mutation SNP C T rs374877682 MDAMB361_BREAST ENST00000359785.5:c.695G>A p.Gly232Glu p.G232E ENST00000359785 NM_015967.5 232 gGa/gAa 9/21 SUCCESS | |
| PTPN22 26191 GRCh37 1 114397639 114397639 + missense_variant Missense_Mutation SNP C A rs769759906 HT115_LARGE_INTESTINE ENST00000359785.5:c.573G>T p.Lys191Asn p.K191N ENST00000359785 NM_015967.5 191 aaG/aaT 8/21 SUCCESS | |
| PTPN22 26191 GRCh37 1 114397672 114397672 + splice_acceptor_variant Splice_Site SNP C T NCIH1436_LUNG ENST00000359785.5:c.541-1G>A p.X181_splice ENST00000359785 NM_015967.5 181 SUCCESS | |
| PTPN22 26191 GRCh37 1 114401117 114401117 + missense_variant Missense_Mutation SNP A G DMS273_LUNG ENST00000359785.5:c.352T>C p.Trp118Arg p.W118R ENST00000359785 NM_015967.5 118 Tgg/Cgg 4/21 SUCCESS | |
| PTPN22 26191 GRCh37 1 114401142 114401142 + synonymous_variant Silent SNP G A rs1425598575 MDAMB361_BREAST ENST00000359785.5:c.327C>T p.Thr109= p.T109= ENST00000359785 NM_015967.5 109 acC/acT 4/21 SUCCESS | |
| PTPN22 26191 GRCh37 1 114401196 114401196 + splice_acceptor_variant Splice_Site SNP C G TE6_OESOPHAGUS ENST00000359785.5:c.274-1G>C p.X92_splice ENST00000359785 NM_015967.5 92 SUCCESS | |
| PTPN22 26191 GRCh37 1 114414313 114414313 + 5_prime_UTR_variant 5'UTR SNP G C KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000359785.5:c.-68C>G p.*23* ENST00000359785 NM_015967.5 1/21 SUCCESS | |
| HIPK1 204851 GRCh37 1 114483300 114483300 + missense_variant Missense_Mutation SNP A G rs182205849 CJM_SKIN ENST00000369558.1:c.295A>G p.Thr99Ala p.T99A ENST00000369558 99 Acc/Gcc 2/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114483362 114483362 + missense_variant Missense_Mutation SNP A C HEC251_ENDOMETRIUM ENST00000369558.1:c.357A>C p.Gln119His p.Q119H ENST00000369558 119 caA/caC 2/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114483429 114483429 + missense_variant Missense_Mutation SNP C T DMS273_LUNG ENST00000369558.1:c.424C>T p.His142Tyr p.H142Y ENST00000369558 142 Cat/Tat 2/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114483433 114483433 + missense_variant Missense_Mutation SNP C T rs755515127 SQ1_LUNG ENST00000369558.1:c.428C>T p.Pro143Leu p.P143L ENST00000369558 143 cCc/cTc 2/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114483451 114483451 + missense_variant Missense_Mutation SNP A G BEN_LUNG ENST00000369558.1:c.446A>G p.Asn149Ser p.N149S ENST00000369558 149 aAc/aGc 2/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114483655 114483655 + missense_variant Missense_Mutation SNP C T HEC108_ENDOMETRIUM ENST00000369558.1:c.650C>T p.Ala217Val p.A217V ENST00000369558 217 gCt/gTt 2/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114495433 114495433 + synonymous_variant Silent SNP T C BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000369558.1:c.1122T>C p.Asp374= p.D374= ENST00000369558 374 gaT/gaC 3/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114498189 114498189 + missense_variant Missense_Mutation SNP C A SNUC2A_LARGE_INTESTINE ENST00000369558.1:c.1325C>A p.Pro442His p.P442H ENST00000369558 442 cCt/cAt 5/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114499274 114499274 + missense_variant Missense_Mutation SNP G A JHH7_LIVER ENST00000369558.1:c.1433G>A p.Gly478Glu p.G478E ENST00000369558 478 gGa/gAa 6/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114499352 114499352 + missense_variant Missense_Mutation SNP A G HCC1833_LUNG ENST00000369558.1:c.1511A>G p.Asp504Gly p.D504G ENST00000369558 504 gAt/gGt 6/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114500749 114500749 + missense_variant Missense_Mutation SNP A G NCIH2066_LUNG ENST00000369558.1:c.1817A>G p.Asp606Gly p.D606G ENST00000369558 606 gAt/gGt 8/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114500872 114500872 + missense_variant Missense_Mutation SNP C T PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369558.1:c.1940C>T p.Pro647Leu p.P647L ENST00000369558 647 cCa/cTa 8/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114504966 114504966 + missense_variant Missense_Mutation SNP C A LS411N_LARGE_INTESTINE ENST00000369558.1:c.2009C>A p.Ser670Tyr p.S670Y ENST00000369558 670 tCt/tAt 9/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114506128 114506128 + missense_variant Missense_Mutation SNP G C rs1028507663 SNU478_BILIARY_TRACT ENST00000369558.1:c.2223G>C p.Gln741His p.Q741H ENST00000369558 741 caG/caC 10/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114508761 114508761 + missense_variant Missense_Mutation SNP C T DAOY_CENTRAL_NERVOUS_SYSTEM ENST00000369558.1:c.2248C>T p.Pro750Ser p.P750S ENST00000369558 750 Cct/Tct 11/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114510393 114510393 + missense_variant Missense_Mutation SNP C T rs759531483 ISHIKAWAHERAKLIO02ER_ENDOMETRIUM ENST00000369558.1:c.2387C>T p.Ala796Val p.A796V ENST00000369558 796 gCc/gTc 12/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114510475 114510475 + missense_variant Missense_Mutation SNP G C MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369558.1:c.2469G>C p.Gln823His p.Q823H ENST00000369558 823 caG/caC 12/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114510534 114510534 + missense_variant Missense_Mutation SNP C T rs200123911 639V_URINARY_TRACT ENST00000369558.1:c.2528C>T p.Ser843Leu p.S843L ENST00000369558 843 tCg/tTg 12/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114511072 114511072 + missense_variant Missense_Mutation SNP T C rs367791151 SW579_THYROID ENST00000369558.1:c.2573T>C p.Leu858Pro p.L858P ENST00000369558 858 cTa/cCa 13/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114511087 114511087 + missense_variant Missense_Mutation SNP C T KYSE180_OESOPHAGUS ENST00000369558.1:c.2588C>T p.Ser863Phe p.S863F ENST00000369558 863 tCc/tTc 13/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114511140 114511140 + missense_variant Missense_Mutation SNP A T HCC1171_LUNG ENST00000369558.1:c.2641A>T p.Asn881Tyr p.N881Y ENST00000369558 881 Aat/Tat 13/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114511152 114511152 + missense_variant Missense_Mutation SNP C T SNUC5_LARGE_INTESTINE ENST00000369558.1:c.2653C>T p.Pro885Ser p.P885S ENST00000369558 885 Cct/Tct 13/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114511170 114511170 + stop_gained Nonsense_Mutation SNP C T KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369558.1:c.2671C>T p.Gln891Ter p.Q891* ENST00000369558 891 Cag/Tag 13/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114511225 114511225 + missense_variant Missense_Mutation SNP G A rs370415621 JHUEM7_ENDOMETRIUM ENST00000369558.1:c.2726G>A p.Arg909Gln p.R909Q ENST00000369558 909 cGa/cAa 13/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114511225 114511225 + missense_variant Missense_Mutation SNP G A rs370415621 REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369558.1:c.2726G>A p.Arg909Gln p.R909Q ENST00000369558 909 cGa/cAa 13/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114511249 114511249 + missense_variant Missense_Mutation SNP A G EN_ENDOMETRIUM ENST00000369558.1:c.2750A>G p.Asp917Gly p.D917G ENST00000369558 917 gAc/gGc 13/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114512606 114512606 + missense_variant Missense_Mutation SNP A G CW2_LARGE_INTESTINE ENST00000369558.1:c.2800A>G p.Ile934Val p.I934V ENST00000369558 934 Atc/Gtc 14/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114512651 114512651 + missense_variant Missense_Mutation SNP T G rs147800588 T173_BONE ENST00000369558.1:c.2845T>G p.Leu949Val p.L949V ENST00000369558 949 Ttg/Gtg 14/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114512762 114512762 + missense_variant Missense_Mutation SNP A G M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369558.1:c.2956A>G p.Ile986Val p.I986V ENST00000369558 986 Att/Gtt 14/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114512790 114512790 + missense_variant Missense_Mutation SNP G T SNU668_STOMACH ENST00000369558.1:c.2984G>T p.Gly995Val p.G995V ENST00000369558 995 gGt/gTt 14/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114514587 114514587 + intron_variant Intron SNP T C EN_ENDOMETRIUM ENST00000369558.1:c.3144+11T>C p.*1048* ENST00000369558 SUCCESS | |
| HIPK1 204851 GRCh37 1 114515655 114515655 + missense_variant Missense_Mutation SNP T C IM95_STOMACH ENST00000369558.1:c.3154T>C p.Ser1052Pro p.S1052P ENST00000369558 1052 Tca/Cca 16/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114515697 114515698 + frameshift_variant Frame_Shift_Ins INS - C rs1378844955 AN3CA_ENDOMETRIUM ENST00000369558.1:c.3202dup p.Arg1068ProfsTer83 p.R1068Pfs*83 ENST00000369558 1066 gcc/gCcc 16/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114515697 114515698 + frameshift_variant Frame_Shift_Ins INS - C rs1378844955 EN_ENDOMETRIUM ENST00000369558.1:c.3202dup p.Arg1068ProfsTer83 p.R1068Pfs*83 ENST00000369558 1066 gcc/gCcc 16/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114515721 114515721 + missense_variant Missense_Mutation SNP G A ISHIKAWAHERAKLIO02ER_ENDOMETRIUM ENST00000369558.1:c.3220G>A p.Val1074Met p.V1074M ENST00000369558 1074 Gtg/Atg 16/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114515770 114515770 + missense_variant Missense_Mutation SNP T C BICR31_UPPER_AERODIGESTIVE_TRACT ENST00000369558.1:c.3269T>C p.Leu1090Pro p.L1090P ENST00000369558 1090 cTa/cCa 16/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114515800 114515800 + missense_variant Missense_Mutation SNP C T rs200630271 HEC6_ENDOMETRIUM ENST00000369558.1:c.3299C>T p.Pro1100Leu p.P1100L ENST00000369558 1100 cCg/cTg 16/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114515823 114515823 + missense_variant Missense_Mutation SNP C G HSC3_UPPER_AERODIGESTIVE_TRACT ENST00000369558.1:c.3322C>G p.Gln1108Glu p.Q1108E ENST00000369558 1108 Cag/Gag 16/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114515839 114515839 + missense_variant Missense_Mutation SNP C T rs751762183 ECC12_STOMACH ENST00000369558.1:c.3338C>T p.Thr1113Met p.T1113M ENST00000369558 1113 aCg/aTg 16/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114516067 114516067 + missense_variant Missense_Mutation SNP G A rs142071670 HEC251_ENDOMETRIUM ENST00000369558.1:c.3566G>A p.Arg1189Gln p.R1189Q ENST00000369558 1189 cGa/cAa 16/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114516186 114516186 + 3_prime_UTR_variant 3'UTR SNP T C HEC251_ENDOMETRIUM ENST00000369558.1:c.*52T>C ENST00000369558 16/16 SUCCESS | |
| HIPK1 204851 GRCh37 1 114516219 114516219 + 3_prime_UTR_variant 3'UTR SNP T C SNU81_LARGE_INTESTINE ENST00000369558.1:c.*85T>C ENST00000369558 16/16 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940169 114940169 + 3_prime_UTR_variant 3'UTR SNP A G KM12_LARGE_INTESTINE ENST00000358465.2:c.*101T>C ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940201 114940201 + 3_prime_UTR_variant 3'UTR SNP G A rs1305121288 SKMEL30_SKIN ENST00000358465.2:c.*69C>T ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940202 114940203 + 3_prime_UTR_variant 3'UTR INS - TT rs369508223 YAPC_PANCREAS ENST00000358465.2:c.*67_*68insAA ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 253JBV_URINARY_TRACT ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 59M_OVARY ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 AM38_CENTRAL_NERVOUS_SYSTEM ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 CAL12T_LUNG ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 CAL29_URINARY_TRACT ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 CL40_LARGE_INTESTINE ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 COLO680N_OESOPHAGUS ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 DANG_PANCREAS ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 DMS454_LUNG ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 FADU_UPPER_AERODIGESTIVE_TRACT ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 GSU_STOMACH ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 HCC1187_BREAST ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 HCC2279_LUNG ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 HLFA_LUNG ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 HMCB_SKIN ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 HS852T_SKIN ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 JEKO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 JHOS4_OVARY ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 JVM3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 KE39_STOMACH ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 KG1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 KMRC3_KIDNEY ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 KYSE410_OESOPHAGUS ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 LC1F_LUNG ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 LCLC97TM1_LUNG ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 LUDLU1_LUNG ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 LXF289_LUNG ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 MCF7_BREAST ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 MEC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 MG63_BONE ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 MINO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 MOLM16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 MORCPR_LUNG ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 NCIH1373_LUNG ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 NCIH1648_LUNG ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 NCIH1651_LUNG ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 NCIH23_LUNG ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 NCIH596_LUNG ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 NCIH747_LARGE_INTESTINE ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 NCO2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 NIHOVCAR3_OVARY ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 OAW28_OVARY ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 OCIM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 OCUM1_STOMACH ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 OVISE_OVARY ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 RERFGC1B_STOMACH ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 RI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 RMGI_OVARY ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 SCABER_URINARY_TRACT ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 SJSA1_BONE ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 SKBR3_BREAST ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 SKES1_BONE ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 SKNDZ_AUTONOMIC_GANGLIA ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 SNU1105_CENTRAL_NERVOUS_SYSTEM ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 SNU1214_UPPER_AERODIGESTIVE_TRACT ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 SNU213_PANCREAS ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 SNU5_STOMACH ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 SR786_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 SW1783_CENTRAL_NERVOUS_SYSTEM ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 TE441T_SOFT_TISSUE ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 TUHR10TKB_KIDNEY ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 UACC812_BREAST ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940211 114940212 + 3_prime_UTR_variant 3'UTR INS - T rs66490349 YAPC_PANCREAS ENST00000358465.2:c.*58dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| 1 114940212 114940212 T T 5637_URINARY_TRACT FAILED | |
| 1 114940212 114940212 T T 8305C_THYROID FAILED | |
| 1 114940212 114940212 T T A549_LUNG FAILED | |
| 1 114940212 114940212 T T BHY_UPPER_AERODIGESTIVE_TRACT FAILED | |
| 1 114940212 114940212 T T ECGI10_OESOPHAGUS FAILED | |
| 1 114940212 114940212 T T FUOV1_OVARY FAILED | |
| 1 114940212 114940212 T T HEC251_ENDOMETRIUM FAILED | |
| 1 114940212 114940212 T T HEC50B_ENDOMETRIUM FAILED | |
| 1 114940212 114940212 T T HSC3_UPPER_AERODIGESTIVE_TRACT FAILED | |
| 1 114940212 114940212 T T JHH5_LIVER FAILED | |
| 1 114940212 114940212 T T JHOS2_OVARY FAILED | |
| 1 114940212 114940212 T T KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 114940212 114940212 T T KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 114940212 114940212 T T KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 114940212 114940212 T T KYSE70_OESOPHAGUS FAILED | |
| 1 114940212 114940212 T T MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 114940212 114940212 T T NCIH2081_LUNG FAILED | |
| 1 114940212 114940212 T T NCIH2452_PLEURA FAILED | |
| 1 114940212 114940212 T T NCIH460_LUNG FAILED | |
| 1 114940212 114940212 T T NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 114940212 114940212 T T NUGC4_STOMACH FAILED | |
| 1 114940212 114940212 T T OVSAHO_OVARY FAILED | |
| 1 114940212 114940212 T T PC14_LUNG FAILED | |
| 1 114940212 114940212 T T PCM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 114940212 114940212 T T RERFLCAD1_LUNG FAILED | |
| 1 114940212 114940212 T T RERFLCAI_LUNG FAILED | |
| 1 114940212 114940212 T T SNU1196_BILIARY_TRACT FAILED | |
| 1 114940212 114940212 T T SNU489_CENTRAL_NERVOUS_SYSTEM FAILED | |
| 1 114940212 114940212 T T SNU8_OVARY FAILED | |
| 1 114940212 114940212 T T SQ1_LUNG FAILED | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 42MGBA_CENTRAL_NERVOUS_SYSTEM ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 A2058_SKIN ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 ACHN_KIDNEY ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 BICR31_UPPER_AERODIGESTIVE_TRACT ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 BICR6_UPPER_AERODIGESTIVE_TRACT ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 BT549_BREAST ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 CAKI1_KIDNEY ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 CAL33_UPPER_AERODIGESTIVE_TRACT ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 CAL78_BONE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 CALU6_LUNG ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 CAOV4_OVARY ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 CHP212_AUTONOMIC_GANGLIA ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 CL11_LARGE_INTESTINE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 CL14_LARGE_INTESTINE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 COLO668_LUNG ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 COLO741_SKIN ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 COV644_OVARY ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 D341MED_CENTRAL_NERVOUS_SYSTEM ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 EFE184_ENDOMETRIUM ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 EFM192A_BREAST ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 EJM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 EOL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 G401_SOFT_TISSUE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 GAMG_CENTRAL_NERVOUS_SYSTEM ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 GDM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 H4_CENTRAL_NERVOUS_SYSTEM ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 HCC1395_BREAST ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 HCC1588_LUNG ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 HCC202_BREAST ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 HCC2218_BREAST ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 HCC4006_LUNG ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 HCC78_LUNG ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 HCC827_LUNG ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 HEYA8_OVARY ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 HH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 HOS_BONE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 HS281T_BREAST ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 HS611T_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 HS683_CENTRAL_NERVOUS_SYSTEM ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 HS695T_SKIN ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 HS742T_BREAST ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 HS840T_UPPER_AERODIGESTIVE_TRACT ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 HS936T_SKIN ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 HT1376_URINARY_TRACT ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 HT55_LARGE_INTESTINE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 IGR37_SKIN ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 ISTMES1_PLEURA ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 JHH7_LIVER ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 JL1_PLEURA ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 K029AX_SKIN ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 K562_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 KLE_ENDOMETRIUM ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 KYSE30_OESOPHAGUS ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 LCLC103H_LUNG ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 LOUNH91_LUNG ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 LS123_LARGE_INTESTINE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 LS513_LARGE_INTESTINE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 MC116_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 MDAMB435S_SKIN ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 MDAMB468_BREAST ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 MDST8_LARGE_INTESTINE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 MFE280_ENDOMETRIUM ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 MHHCALL3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 MPP89_PLEURA ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 MV411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 NCIH1092_LUNG ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 NCIH1184_LUNG ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 NCIH1299_LUNG ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 NCIH1355_LUNG ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 NCIH1385_LUNG ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 NCIH1573_LUNG ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 NCIH1623_LUNG ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 NCIH1666_LUNG ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 NCIH1963_LUNG ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 NCIH1975_LUNG ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 NCIH2023_LUNG ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 NCIH2087_LUNG ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 NCIH209_LUNG ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 NCIH2122_LUNG ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 NCIH226_LUNG ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 NCIH2286_LUNG ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 NCIH2291_LUNG ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 NCIH2444_LUNG ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 NCIH510_LUNG ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 NCIH650_LUNG ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 NCIH854_LUNG ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 OCILY3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 OV90_OVARY ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 OVCAR4_OVARY ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 PANC0203_PANCREAS ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 PANC0327_PANCREAS ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 PANC1005_PANCREAS ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 PECAPJ34CLONEC12_UPPER_AERODIGESTIVE_TRACT ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 PEER_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 REC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 RL952_ENDOMETRIUM ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 RL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 RT112_URINARY_TRACT ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 SCC15_UPPER_AERODIGESTIVE_TRACT ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 SCLC21H_LUNG ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 SF126_CENTRAL_NERVOUS_SYSTEM ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 SKHEP1_LIVER ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 SKLMS1_SOFT_TISSUE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 SKMEL1_SKIN ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 SKMEL24_SKIN ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 SKMEL5_SKIN ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 SKMES1_LUNG ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 SKOV3_OVARY ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 SNU283_LARGE_INTESTINE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 SNU478_BILIARY_TRACT ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 SNU503_LARGE_INTESTINE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 SUDHL5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 SUPT11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 SW1116_LARGE_INTESTINE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 SW1990_PANCREAS ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 SW480_LARGE_INTESTINE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 SW620_LARGE_INTESTINE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 SW900_LUNG ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 T173_BONE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 T47D_BREAST ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 T98G_CENTRAL_NERVOUS_SYSTEM ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 TOV21G_OVARY ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 U937_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 UACC62_SKIN ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 WM115_SKIN ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940215 114940216 + 3_prime_UTR_variant 3'UTR INS - G rs147717859 WM2664_SKIN ENST00000358465.2:c.*54_*55insC ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940218 114940218 + 3_prime_UTR_variant 3'UTR SNP T G rs940124853 SNUC2A_LARGE_INTESTINE ENST00000358465.2:c.*52A>C ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| 1 114940228 114940229 CG CG A375_SKIN FAILED | |
| 1 114940228 114940229 CG CG HCC366_LUNG FAILED | |
| TRIM33 51592 GRCh37 1 114940229 114940230 + 3_prime_UTR_variant 3'UTR INS - T rs370757901 HEC251_ENDOMETRIUM ENST00000358465.2:c.*40dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940229 114940230 + 3_prime_UTR_variant 3'UTR INS - T rs370757901 NCIH2172_LUNG ENST00000358465.2:c.*40dup ENST00000358465 NM_015906.3 20/20 SUCCESS | |
| 1 114940230 114940230 T T HCT15_LARGE_INTESTINE FAILED | |
| 1 114940230 114940230 T T RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 114940230 114940230 T T SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 114940230 114940230 T T SNU324_PANCREAS FAILED | |
| 1 114940230 114940231 TT TT 2313287_STOMACH FAILED | |
| 1 114940230 114940231 TT TT HEC151_ENDOMETRIUM FAILED | |
| 1 114940230 114940231 TT TT HEC6_ENDOMETRIUM FAILED | |
| 1 114940230 114940231 TT TT RL952_ENDOMETRIUM FAILED | |
| 1 114940230 114940231 TT TT SW48_LARGE_INTESTINE FAILED | |
| 1 114940230 114940232 TTT TTT COLO684_ENDOMETRIUM FAILED | |
| 1 114940230 114940232 TTT TTT ISHIKAWAHERAKLIO02ER_ENDOMETRIUM FAILED | |
| 1 114940230 114940233 TTTT TTTT SNUC4_LARGE_INTESTINE FAILED | |
| 1 114940230 114940234 TTTTT TTTTT CCK81_LARGE_INTESTINE FAILED | |
| TRIM33 51592 GRCh37 1 114940395 114940395 + missense_variant Missense_Mutation SNP C T rs939382474 BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000358465.2:c.3259G>A p.Ala1087Thr p.A1087T ENST00000358465 NM_015906.3 1087 Gca/Aca 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940464 114940464 + missense_variant Missense_Mutation SNP G T BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000358465.2:c.3190C>A p.Gln1064Lys p.Q1064K ENST00000358465 NM_015906.3 1064 Cag/Aag 20/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114940597 114940597 + missense_variant Missense_Mutation SNP G C NCIH2444_LUNG ENST00000358465.2:c.3136C>G p.Gln1046Glu p.Q1046E ENST00000358465 NM_015906.3 1046 Caa/Gaa 19/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114942108 114942108 + missense_variant Missense_Mutation SNP T C PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.3091A>G p.Ile1031Val p.I1031V ENST00000358465 NM_015906.3 1031 Atc/Gtc 18/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114942135 114942135 + missense_variant Missense_Mutation SNP C T HCC15_LUNG ENST00000358465.2:c.3064G>A p.Asp1022Asn p.D1022N ENST00000358465 NM_015906.3 1022 Gat/Aat 18/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114944012 114944012 + missense_variant,splice_region_variant Missense_Mutation SNP G A MINO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.2966C>T p.Ser989Leu p.S989L ENST00000358465 NM_015906.3 989 tCg/tTg 17/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114944058 114944058 + missense_variant Missense_Mutation SNP A G rs998957159 NCIH3255_LUNG ENST00000358465.2:c.2920T>C p.Tyr974His p.Y974H ENST00000358465 NM_015906.3 974 Tat/Cat 17/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114945462 114945462 + missense_variant Missense_Mutation SNP C G SKLU1_LUNG ENST00000358465.2:c.2812G>C p.Glu938Gln p.E938Q ENST00000358465 NM_015906.3 938 Gaa/Caa 16/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114947958 114947958 + intron_variant Intron SNP G A rs150689232 MFE296_ENDOMETRIUM ENST00000358465.2:c.2768+74C>T p.*923* ENST00000358465 NM_015906.3 SUCCESS | |
| TRIM33 51592 GRCh37 1 114947958 114947958 + intron_variant Intron SNP G A rs150689232 SR786_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.2768+74C>T p.*923* ENST00000358465 NM_015906.3 SUCCESS | |
| TRIM33 51592 GRCh37 1 114947958 114947958 + intron_variant Intron SNP G A rs150689232 VMRCRCZ_KIDNEY ENST00000358465.2:c.2768+74C>T p.*923* ENST00000358465 NM_015906.3 SUCCESS | |
| TRIM33 51592 GRCh37 1 114947966 114947966 + intron_variant Intron SNP C A rs374471977 MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.2768+66G>T p.*923* ENST00000358465 NM_015906.3 SUCCESS | |
| TRIM33 51592 GRCh37 1 114947972 114947972 + intron_variant Intron SNP T C CW2_LARGE_INTESTINE ENST00000358465.2:c.2768+60A>G p.*923* ENST00000358465 NM_015906.3 SUCCESS | |
| TRIM33 51592 GRCh37 1 114948014 114948014 + intron_variant Intron SNP C A NCIH1876_LUNG ENST00000358465.2:c.2768+18G>T p.*923* ENST00000358465 NM_015906.3 SUCCESS | |
| TRIM33 51592 GRCh37 1 114948107 114948107 + missense_variant Missense_Mutation SNP T A SNU407_LARGE_INTESTINE ENST00000358465.2:c.2693A>T p.Asp898Val p.D898V ENST00000358465 NM_015906.3 898 gAt/gTt 15/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114948207 114948207 + stop_gained Nonsense_Mutation SNP G A SKMEL24_SKIN ENST00000358465.2:c.2593C>T p.Arg865Ter p.R865* ENST00000358465 NM_015906.3 865 Cga/Tga 15/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114948221 114948221 + missense_variant Missense_Mutation SNP C T KM12_LARGE_INTESTINE ENST00000358465.2:c.2579G>A p.Gly860Glu p.G860E ENST00000358465 NM_015906.3 860 gGa/gAa 15/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114948246 114948246 + missense_variant Missense_Mutation SNP A T GP2D_LARGE_INTESTINE ENST00000358465.2:c.2554T>A p.Ser852Thr p.S852T ENST00000358465 NM_015906.3 852 Tca/Aca 15/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114948369 114948369 + missense_variant Missense_Mutation SNP C T NCIH2009_LUNG ENST00000358465.2:c.2431G>A p.Glu811Lys p.E811K ENST00000358465 NM_015906.3 811 Gag/Aag 15/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114949567 114949567 + missense_variant Missense_Mutation SNP C T BHY_UPPER_AERODIGESTIVE_TRACT ENST00000358465.2:c.2414G>A p.Cys805Tyr p.C805Y ENST00000358465 NM_015906.3 805 tGc/tAc 14/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114949641 114949641 + synonymous_variant Silent SNP C A CORL23_LUNG ENST00000358465.2:c.2340G>T p.Gly780= p.G780= ENST00000358465 NM_015906.3 780 ggG/ggT 14/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114951297 114951297 + splice_donor_variant Splice_Site SNP A C rs1572016466 HCC2108_LUNG ENST00000358465.2:c.2258+2T>G p.X753_splice ENST00000358465 NM_015906.3 753 SUCCESS | |
| TRIM33 51592 GRCh37 1 114951305 114951305 + missense_variant Missense_Mutation SNP C T rs368331212 NCIH1436_LUNG ENST00000358465.2:c.2252G>A p.Arg751Gln p.R751Q ENST00000358465 NM_015906.3 751 cGa/cAa 13/20 SUCCESS | |
| 1 114952840 114952842 AGA AGA NUGC3_STOMACH FAILED | |
| TRIM33 51592 GRCh37 1 114964123 114964123 + missense_variant Missense_Mutation SNP C T rs1462979658 HEC251_ENDOMETRIUM ENST00000358465.2:c.1996G>A p.Glu666Lys p.E666K ENST00000358465 NM_015906.3 666 Gag/Aag 11/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114968345 114968345 + missense_variant,splice_region_variant Missense_Mutation SNP C T LS411N_LARGE_INTESTINE ENST00000358465.2:c.1421G>A p.Gly474Asp p.G474D ENST00000358465 NM_015906.3 474 gGt/gAt 9/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114969867 114969867 + missense_variant Missense_Mutation SNP G A rs962992586 RPMI7951_SKIN ENST00000358465.2:c.1352C>T p.Pro451Leu p.P451L ENST00000358465 NM_015906.3 451 cCt/cTt 8/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114970452 114970452 + missense_variant Missense_Mutation SNP C A NCIH1930_LUNG ENST00000358465.2:c.1220G>T p.Arg407Leu p.R407L ENST00000358465 NM_015906.3 407 cGg/cTg 7/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114970505 114970505 + synonymous_variant Silent SNP C T BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000358465.2:c.1167G>A p.Lys389= p.K389= ENST00000358465 NM_015906.3 389 aaG/aaA 7/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114973432 114973432 + synonymous_variant Silent SNP T C BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000358465.2:c.1143A>G p.Leu381= p.L381= ENST00000358465 NM_015906.3 381 ttA/ttG 6/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114973477 114973477 + synonymous_variant Silent SNP A G BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000358465.2:c.1098T>C p.Ile366= p.I366= ENST00000358465 NM_015906.3 366 atT/atC 6/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114973504 114973504 + synonymous_variant Silent SNP T A BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000358465.2:c.1071A>T p.Arg357= p.R357= ENST00000358465 NM_015906.3 357 cgA/cgT 6/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114976314 114976314 + missense_variant Missense_Mutation SNP G A rs760591332 HEC59_ENDOMETRIUM ENST00000358465.2:c.965C>T p.Ala322Val p.A322V ENST00000358465 NM_015906.3 322 gCa/gTa 5/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114976314 114976314 + missense_variant Missense_Mutation SNP G A rs760591332 OCUM1_STOMACH ENST00000358465.2:c.965C>T p.Ala322Val p.A322V ENST00000358465 NM_015906.3 322 gCa/gTa 5/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 114976314 114976314 + missense_variant Missense_Mutation SNP G A rs760591332 SNU216_STOMACH ENST00000358465.2:c.965C>T p.Ala322Val p.A322V ENST00000358465 NM_015906.3 322 gCa/gTa 5/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 115005824 115005824 + synonymous_variant Silent SNP G A A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.825C>T p.Phe275= p.F275= ENST00000358465 NM_015906.3 275 ttC/ttT 4/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 115006140 115006140 + synonymous_variant Silent SNP G A BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000358465.2:c.684C>T p.Gly228= p.G228= ENST00000358465 NM_015906.3 228 ggC/ggT 3/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 115006158 115006158 + synonymous_variant Silent SNP G A BICR18_UPPER_AERODIGESTIVE_TRACT ENST00000358465.2:c.666C>T p.Asp222= p.D222= ENST00000358465 NM_015906.3 222 gaC/gaT 3/20 SUCCESS | |
| TRIM33 51592 GRCh37 1 115007012 115007012 + splice_acceptor_variant Splice_Site SNP T A GMS10_CENTRAL_NERVOUS_SYSTEM ENST00000358465.2:c.527-2A>T p.X176_splice ENST00000358465 NM_015906.3 176 SUCCESS | |
| TRIM33 51592 GRCh37 1 115007012 115007012 + splice_acceptor_variant Splice_Site SNP T A KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000358465.2:c.527-2A>T p.X176_splice ENST00000358465 NM_015906.3 176 SUCCESS | |
| 1 115053195 115053195 C C CCK81_LARGE_INTESTINE FAILED | |
| NRAS 4893 GRCh37 1 115251169 115251169 + missense_variant Missense_Mutation SNP C A HCC15_LUNG ENST00000369535.4:c.557G>T p.Cys186Phe p.C186F ENST00000369535 NM_002524.4 186 tGt/tTt 5/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115251242 115251242 + stop_gained Nonsense_Mutation SNP C A JHUEM7_ENDOMETRIUM ENST00000369535.4:c.484G>T p.Glu162Ter p.E162* ENST00000369535 NM_002524.4 162 Gaa/Taa 5/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115252203 115252203 + missense_variant Missense_Mutation SNP G A HEC59_ENDOMETRIUM ENST00000369535.4:c.437C>T p.Ala146Val p.A146V ENST00000369535 NM_002524.4 146 gCc/gTc 4/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115252204 115252204 + missense_variant Missense_Mutation SNP C T NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369535.4:c.436G>A p.Ala146Thr p.A146T ENST00000369535 NM_002524.4 146 Gcc/Acc 4/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115252246 115252246 + missense_variant Missense_Mutation SNP C T rs1456325880 SNU81_LARGE_INTESTINE ENST00000369535.4:c.394G>A p.Glu132Lys p.E132K ENST00000369535 NM_002524.4 132 Gaa/Aaa 4/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115252248 115252248 + missense_variant Missense_Mutation SNP T C 639V_URINARY_TRACT ENST00000369535.4:c.392A>G p.His131Arg p.H131R ENST00000369535 NM_002524.4 131 cAc/cGc 4/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115252318 115252318 + missense_variant Missense_Mutation SNP C T HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369535.4:c.322G>A p.Asp108Asn p.D108N ENST00000369535 NM_002524.4 108 Gat/Aat 4/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115256437 115256437 + missense_variant Missense_Mutation SNP C T CAL27_UPPER_AERODIGESTIVE_TRACT ENST00000369535.4:c.274G>A p.Asp92Asn p.D92N ENST00000369535 NM_002524.4 92 Gat/Aat 3/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115256439 115256439 + missense_variant Missense_Mutation SNP G A rs774832953 HT115_LARGE_INTESTINE ENST00000369535.4:c.272C>T p.Ala91Val p.A91V ENST00000369535 NM_002524.4 91 gCg/gTg 3/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115256508 115256508 + missense_variant Missense_Mutation SNP C G CAL27_UPPER_AERODIGESTIVE_TRACT ENST00000369535.4:c.203G>C p.Arg68Thr p.R68T ENST00000369535 NM_002524.4 68 aGa/aCa 3/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115256528 115256528 + missense_variant Missense_Mutation SNP T G rs121913255 DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369535.4:c.183A>C p.Gln61His p.Q61H ENST00000369535 NM_002524.4 61 caA/caC 3/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115256528 115256528 + missense_variant Missense_Mutation SNP T G rs121913255 L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369535.4:c.183A>C p.Gln61His p.Q61H ENST00000369535 NM_002524.4 61 caA/caC 3/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115256528 115256528 + missense_variant Missense_Mutation SNP T A rs121913255 ME1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369535.4:c.183A>T p.Gln61His p.Q61H ENST00000369535 NM_002524.4 61 caA/caT 3/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115256528 115256528 + missense_variant Missense_Mutation SNP T A rs121913255 RD_SOFT_TISSUE ENST00000369535.4:c.183A>T p.Gln61His p.Q61H ENST00000369535 NM_002524.4 61 caA/caT 3/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115256529 115256529 + missense_variant Missense_Mutation SNP T A rs11554290 BFTC905_URINARY_TRACT ENST00000369535.4:c.182A>T p.Gln61Leu p.Q61L ENST00000369535 NM_002524.4 61 cAa/cTa 3/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115256529 115256529 + missense_variant Missense_Mutation SNP T A rs11554290 HCC1195_LUNG ENST00000369535.4:c.182A>T p.Gln61Leu p.Q61L ENST00000369535 NM_002524.4 61 cAa/cTa 3/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115256529 115256529 + missense_variant Missense_Mutation SNP T A rs11554290 HEPG2_LIVER ENST00000369535.4:c.182A>T p.Gln61Leu p.Q61L ENST00000369535 NM_002524.4 61 cAa/cTa 3/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115256529 115256529 + missense_variant Missense_Mutation SNP T A rs11554290 IPC298_SKIN ENST00000369535.4:c.182A>T p.Gln61Leu p.Q61L ENST00000369535 NM_002524.4 61 cAa/cTa 3/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115256529 115256529 + missense_variant Missense_Mutation SNP T A rs11554290 KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369535.4:c.182A>T p.Gln61Leu p.Q61L ENST00000369535 NM_002524.4 61 cAa/cTa 3/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115256529 115256529 + missense_variant Missense_Mutation SNP T C rs11554290 KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369535.4:c.182A>G p.Gln61Arg p.Q61R ENST00000369535 NM_002524.4 61 cAa/cGa 3/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115256529 115256529 + missense_variant Missense_Mutation SNP T C rs11554290 KU1919_URINARY_TRACT ENST00000369535.4:c.182A>G p.Gln61Arg p.Q61R ENST00000369535 NM_002524.4 61 cAa/cGa 3/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115256529 115256529 + missense_variant Missense_Mutation SNP T A rs11554290 MELJUSO_SKIN ENST00000369535.4:c.182A>T p.Gln61Leu p.Q61L ENST00000369535 NM_002524.4 61 cAa/cTa 3/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115256529 115256529 + missense_variant Missense_Mutation SNP T A rs11554290 MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369535.4:c.182A>T p.Gln61Leu p.Q61L ENST00000369535 NM_002524.4 61 cAa/cTa 3/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115256529 115256529 + missense_variant Missense_Mutation SNP T C rs11554290 NCIH2347_LUNG ENST00000369535.4:c.182A>G p.Gln61Arg p.Q61R ENST00000369535 NM_002524.4 61 cAa/cGa 3/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115256529 115256529 + missense_variant Missense_Mutation SNP T A rs11554290 OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369535.4:c.182A>T p.Gln61Leu p.Q61L ENST00000369535 NM_002524.4 61 cAa/cTa 3/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115256529 115256529 + missense_variant Missense_Mutation SNP T C rs11554290 ONS76_CENTRAL_NERVOUS_SYSTEM ENST00000369535.4:c.182A>G p.Gln61Arg p.Q61R ENST00000369535 NM_002524.4 61 cAa/cGa 3/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115256529 115256529 + missense_variant Missense_Mutation SNP T A rs11554290 SNU719_STOMACH ENST00000369535.4:c.182A>T p.Gln61Leu p.Q61L ENST00000369535 NM_002524.4 61 cAa/cTa 3/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115256529 115256529 + missense_variant Missense_Mutation SNP T C rs11554290 SW1271_LUNG ENST00000369535.4:c.182A>G p.Gln61Arg p.Q61R ENST00000369535 NM_002524.4 61 cAa/cGa 3/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115256529 115256529 + missense_variant Missense_Mutation SNP T G rs11554290 TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369535.4:c.182A>C p.Gln61Pro p.Q61P ENST00000369535 NM_002524.4 61 cAa/cCa 3/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115256529 115256529 + missense_variant Missense_Mutation SNP T C rs11554290 TT2609C02_THYROID ENST00000369535.4:c.182A>G p.Gln61Arg p.Q61R ENST00000369535 NM_002524.4 61 cAa/cGa 3/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115256530 115256530 + missense_variant Missense_Mutation SNP G T rs121913254 CHP212_AUTONOMIC_GANGLIA ENST00000369535.4:c.181C>A p.Gln61Lys p.Q61K ENST00000369535 NM_002524.4 61 Caa/Aaa 3/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115256530 115256530 + missense_variant Missense_Mutation SNP G T rs121913254 HCC15_LUNG ENST00000369535.4:c.181C>A p.Gln61Lys p.Q61K ENST00000369535 NM_002524.4 61 Caa/Aaa 3/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115256530 115256530 + missense_variant Missense_Mutation SNP G T rs121913254 HS936T_SKIN ENST00000369535.4:c.181C>A p.Gln61Lys p.Q61K ENST00000369535 NM_002524.4 61 Caa/Aaa 3/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115256530 115256530 + missense_variant Missense_Mutation SNP G T rs121913254 HS944T_SKIN ENST00000369535.4:c.181C>A p.Gln61Lys p.Q61K ENST00000369535 NM_002524.4 61 Caa/Aaa 3/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115256530 115256530 + missense_variant Missense_Mutation SNP G T rs121913254 HT1080_SOFT_TISSUE ENST00000369535.4:c.181C>A p.Gln61Lys p.Q61K ENST00000369535 NM_002524.4 61 Caa/Aaa 3/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115256530 115256530 + missense_variant Missense_Mutation SNP G T rs121913254 HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369535.4:c.181C>A p.Gln61Lys p.Q61K ENST00000369535 NM_002524.4 61 Caa/Aaa 3/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115256530 115256530 + missense_variant Missense_Mutation SNP G T rs121913254 M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369535.4:c.181C>A p.Gln61Lys p.Q61K ENST00000369535 NM_002524.4 61 Caa/Aaa 3/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115256530 115256530 + missense_variant Missense_Mutation SNP G T rs121913254 NCIH1299_LUNG ENST00000369535.4:c.181C>A p.Gln61Lys p.Q61K ENST00000369535 NM_002524.4 61 Caa/Aaa 3/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115256530 115256530 + missense_variant Missense_Mutation SNP G T rs121913254 NCIH2087_LUNG ENST00000369535.4:c.181C>A p.Gln61Lys p.Q61K ENST00000369535 NM_002524.4 61 Caa/Aaa 3/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115256530 115256530 + missense_variant Missense_Mutation SNP G T rs121913254 OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369535.4:c.181C>A p.Gln61Lys p.Q61K ENST00000369535 NM_002524.4 61 Caa/Aaa 3/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115256530 115256530 + missense_variant Missense_Mutation SNP G T rs121913254 SKNAS_AUTONOMIC_GANGLIA ENST00000369535.4:c.181C>A p.Gln61Lys p.Q61K ENST00000369535 NM_002524.4 61 Caa/Aaa 3/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115256530 115256530 + missense_variant Missense_Mutation SNP G T rs121913254 SNU387_LIVER ENST00000369535.4:c.181C>A p.Gln61Lys p.Q61K ENST00000369535 NM_002524.4 61 Caa/Aaa 3/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115256530 115256530 + missense_variant Missense_Mutation SNP G T rs121913254 TYKNU_OVARY ENST00000369535.4:c.181C>A p.Gln61Lys p.Q61K ENST00000369535 NM_002524.4 61 Caa/Aaa 3/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115256530 115256531 + missense_variant Missense_Mutation DNP GT TA SKMEL30_SKIN ENST00000369535.4:c.180_181delinsTA p.Gln61Lys p.Q61K ENST00000369535 NM_002524.4 60 ggACaa/ggTAaa 3/7 SUCCESS | |
| 1 115258722 115258723 TG TG NCIH1048_LUNG FAILED | |
| NRAS 4893 GRCh37 1 115258744 115258744 + missense_variant Missense_Mutation SNP C A rs121434596 AML193_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369535.4:c.38G>T p.Gly13Val p.G13V ENST00000369535 NM_002524.4 13 gGt/gTt 2/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115258744 115258744 + missense_variant Missense_Mutation SNP C T rs121434596 HDMYZ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369535.4:c.38G>A p.Gly13Asp p.G13D ENST00000369535 NM_002524.4 13 gGt/gAt 2/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115258744 115258744 + missense_variant Missense_Mutation SNP C T rs121434596 KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369535.4:c.38G>A p.Gly13Asp p.G13D ENST00000369535 NM_002524.4 13 gGt/gAt 2/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115258744 115258744 + missense_variant Missense_Mutation SNP C T rs121434596 MINO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369535.4:c.38G>A p.Gly13Asp p.G13D ENST00000369535 NM_002524.4 13 gGt/gAt 2/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115258744 115258744 + missense_variant Missense_Mutation SNP C T rs121434596 NCIH929_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369535.4:c.38G>A p.Gly13Asp p.G13D ENST00000369535 NM_002524.4 13 gGt/gAt 2/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115258747 115258747 + missense_variant Missense_Mutation SNP C T rs121913237 697_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369535.4:c.35G>A p.Gly12Asp p.G12D ENST00000369535 NM_002524.4 12 gGt/gAt 2/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115258747 115258747 + missense_variant Missense_Mutation SNP C T rs121913237 HEC151_ENDOMETRIUM ENST00000369535.4:c.35G>A p.Gly12Asp p.G12D ENST00000369535 NM_002524.4 12 gGt/gAt 2/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115258747 115258747 + missense_variant Missense_Mutation SNP C A rs121913237 HS852T_SKIN ENST00000369535.4:c.35G>T p.Gly12Val p.G12V ENST00000369535 NM_002524.4 12 gGt/gTt 2/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115258747 115258747 + missense_variant Missense_Mutation SNP C T rs121913237 KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369535.4:c.35G>A p.Gly12Asp p.G12D ENST00000369535 NM_002524.4 12 gGt/gAt 2/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115258747 115258747 + missense_variant Missense_Mutation SNP C T rs121913237 MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369535.4:c.35G>A p.Gly12Asp p.G12D ENST00000369535 NM_002524.4 12 gGt/gAt 2/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115258747 115258747 + missense_variant Missense_Mutation SNP C T rs121913237 P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369535.4:c.35G>A p.Gly12Asp p.G12D ENST00000369535 NM_002524.4 12 gGt/gAt 2/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115258747 115258747 + missense_variant Missense_Mutation SNP C T rs121913237 THP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369535.4:c.35G>A p.Gly12Asp p.G12D ENST00000369535 NM_002524.4 12 gGt/gAt 2/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115258747 115258747 + missense_variant Missense_Mutation SNP C T rs121913237 TYKNU_OVARY ENST00000369535.4:c.35G>A p.Gly12Asp p.G12D ENST00000369535 NM_002524.4 12 gGt/gAt 2/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115258748 115258748 + missense_variant Missense_Mutation SNP C A rs121913250 P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369535.4:c.34G>T p.Gly12Cys p.G12C ENST00000369535 NM_002524.4 12 Ggt/Tgt 2/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115258748 115258748 + missense_variant Missense_Mutation SNP C T rs121913250 PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369535.4:c.34G>A p.Gly12Ser p.G12S ENST00000369535 NM_002524.4 12 Ggt/Agt 2/7 SUCCESS | |
| NRAS 4893 GRCh37 1 115258768 115258768 + missense_variant Missense_Mutation SNP T C CORL279_LUNG ENST00000369535.4:c.14A>G p.Lys5Arg p.K5R ENST00000369535 NM_002524.4 5 aAa/aGa 2/7 SUCCESS | |
| NGF 4803 GRCh37 1 115828633 115828633 + 3_prime_UTR_variant 3'UTR SNP G A rs1378185553 RKO_LARGE_INTESTINE ENST00000369512.2:c.*58C>T ENST00000369512 NM_002506.2 3/3 SUCCESS | |
| 1 115828668 115828668 G G ISHIKAWAHERAKLIO02ER_ENDOMETRIUM FAILED | |
| NGF 4803 GRCh37 1 115828684 115828684 + 3_prime_UTR_variant 3'UTR SNP C T rs768283373 OVK18_OVARY ENST00000369512.2:c.*7G>A ENST00000369512 NM_002506.2 3/3 SUCCESS | |
| NGF 4803 GRCh37 1 115828685 115828685 + 3_prime_UTR_variant 3'UTR SNP G A rs542460046 HCC366_LUNG ENST00000369512.2:c.*6C>T ENST00000369512 NM_002506.2 3/3 SUCCESS | |
| 1 115828721 115828722 CA CA DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE FAILED | |
| 1 115828721 115828722 CA CA SW48_LARGE_INTESTINE FAILED | |
| NGF 4803 GRCh37 1 115828907 115828907 + missense_variant Missense_Mutation SNP G C rs1159550331 TE9_OESOPHAGUS ENST00000369512.2:c.510C>G p.Phe170Leu p.F170L ENST00000369512 NM_002506.2 170 ttC/ttG 3/3 SUCCESS | |
| NGF 4803 GRCh37 1 115828992 115828992 + stop_gained Nonsense_Mutation SNP C T MEWO_SKIN ENST00000369512.2:c.425G>A p.Trp142Ter p.W142* ENST00000369512 NM_002506.2 142 tGg/tAg 3/3 SUCCESS | |
| NGF 4803 GRCh37 1 115829018 115829018 + missense_variant Missense_Mutation SNP G T rs746897874 HEC251_ENDOMETRIUM ENST00000369512.2:c.399C>A p.Phe133Leu p.F133L ENST00000369512 NM_002506.2 133 ttC/ttA 3/3 SUCCESS | |
| NGF 4803 GRCh37 1 115829026 115829026 + missense_variant Missense_Mutation SNP C A NCIH2286_LUNG ENST00000369512.2:c.391G>T p.Gly131Cys p.G131C ENST00000369512 NM_002506.2 131 Ggc/Tgc 3/3 SUCCESS | |
| NGF 4803 GRCh37 1 115829068 115829068 + missense_variant Missense_Mutation SNP G C UMUC3_URINARY_TRACT ENST00000369512.2:c.349C>G p.His117Asp p.H117D ENST00000369512 NM_002506.2 117 Cac/Gac 3/3 SUCCESS | |
| NGF 4803 GRCh37 1 115829098 115829098 + missense_variant Missense_Mutation SNP C A NUGC4_STOMACH ENST00000369512.2:c.319G>T p.Val107Phe p.V107F ENST00000369512 NM_002506.2 107 Gtc/Ttc 3/3 SUCCESS | |
| NGF 4803 GRCh37 1 115829166 115829166 + stop_gained Nonsense_Mutation SNP G C COV362_OVARY ENST00000369512.2:c.251C>G p.Ser84Ter p.S84* ENST00000369512 NM_002506.2 84 tCa/tGa 3/3 SUCCESS | |
| NGF 4803 GRCh37 1 115829170 115829170 + missense_variant Missense_Mutation SNP G A rs138175552 HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369512.2:c.247C>T p.Arg83Cys p.R83C ENST00000369512 NM_002506.2 83 Cgt/Tgt 3/3 SUCCESS | |
| NGF 4803 GRCh37 1 115829170 115829170 + missense_variant Missense_Mutation SNP G A rs138175552 PECAPJ41CLONED2_UPPER_AERODIGESTIVE_TRACT ENST00000369512.2:c.247C>T p.Arg83Cys p.R83C ENST00000369512 NM_002506.2 83 Cgt/Tgt 3/3 SUCCESS | |
| NGF 4803 GRCh37 1 115829179 115829179 + missense_variant Missense_Mutation SNP G A rs778266438 JHUEM1_ENDOMETRIUM ENST00000369512.2:c.238C>T p.Arg80Trp p.R80W ENST00000369512 NM_002506.2 80 Cgg/Tgg 3/3 SUCCESS | |
| NGF 4803 GRCh37 1 115829200 115829200 + missense_variant Missense_Mutation SNP C G BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369512.2:c.217G>C p.Asp73His p.D73H ENST00000369512 NM_002506.2 73 Gac/Cac 3/3 SUCCESS | |
| NGF 4803 GRCh37 1 115829233 115829233 + missense_variant Missense_Mutation SNP G A rs755243469 NCIH1623_LUNG ENST00000369512.2:c.184C>T p.Arg62Cys p.R62C ENST00000369512 NM_002506.2 62 Cgc/Tgc 3/3 SUCCESS | |
| NGF 4803 GRCh37 1 115829238 115829238 + missense_variant Missense_Mutation SNP G A IPC298_SKIN ENST00000369512.2:c.179C>T p.Ala60Val p.A60V ENST00000369512 NM_002506.2 60 gCt/gTt 3/3 SUCCESS | |
| NGF 4803 GRCh37 1 115829259 115829259 + missense_variant Missense_Mutation SNP C T PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369512.2:c.158G>A p.Ser53Asn p.S53N ENST00000369512 NM_002506.2 53 aGc/aAc 3/3 SUCCESS | |
| NGF 4803 GRCh37 1 115829283 115829283 + missense_variant Missense_Mutation SNP T C SNU1040_LARGE_INTESTINE ENST00000369512.2:c.134A>G p.Asp45Gly p.D45G ENST00000369512 NM_002506.2 45 gAc/gGc 3/3 SUCCESS | |
| NGF 4803 GRCh37 1 115829334 115829334 + missense_variant Missense_Mutation SNP G C HEYA8_OVARY ENST00000369512.2:c.83C>G p.Ala28Gly p.A28G ENST00000369512 NM_002506.2 28 gCa/gGa 3/3 SUCCESS | |
| NGF 4803 GRCh37 1 115829419 115829419 + 5_prime_UTR_variant 5'UTR SNP C T rs750055928 SNU1040_LARGE_INTESTINE ENST00000369512.2:c.-3G>A p.*1* ENST00000369512 NM_002506.2 3/3 SUCCESS | |
| NGF 4803 GRCh37 1 115829421 115829421 + 5_prime_UTR_variant 5'UTR SNP C T rs745683574 JHOC5_OVARY ENST00000369512.2:c.-5G>A p.*2* ENST00000369512 NM_002506.2 3/3 SUCCESS | |
| SLC22A15 55356 GRCh37 1 116519265 116519265 + missense_variant Missense_Mutation SNP C G ABC1_LUNG ENST00000369503.4:c.17C>G p.Ala6Gly p.A6G ENST00000369503 NM_018420.2 6 gCg/gGg 1/12 SUCCESS | |
| SLC22A15 55356 GRCh37 1 116534760 116534760 + missense_variant Missense_Mutation SNP G T PANC1005_PANCREAS ENST00000369503.4:c.196G>T p.Ala66Ser p.A66S ENST00000369503 NM_018420.2 66 Gct/Tct 2/12 SUCCESS | |
| SLC22A15 55356 GRCh37 1 116534805 116534805 + missense_variant Missense_Mutation SNP G A rs759127831 CAOV3_OVARY ENST00000369503.4:c.241G>A p.Gly81Ser p.G81S ENST00000369503 NM_018420.2 81 Ggc/Agc 2/12 SUCCESS | |
| SLC22A15 55356 GRCh37 1 116563393 116563393 + missense_variant Missense_Mutation SNP A G rs201922814 NCIH1105_LUNG ENST00000369503.4:c.485A>G p.Tyr162Cys p.Y162C ENST00000369503 NM_018420.2 162 tAt/tGt 4/12 SUCCESS | |
| SLC22A15 55356 GRCh37 1 116563400 116563400 + missense_variant Missense_Mutation SNP C A rs1320723491 LOXIMVI_SKIN ENST00000369503.4:c.492C>A p.Phe164Leu p.F164L ENST00000369503 NM_018420.2 164 ttC/ttA 4/12 SUCCESS | |
| SLC22A15 55356 GRCh37 1 116563455 116563455 + missense_variant Missense_Mutation SNP G A RI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369503.4:c.547G>A p.Ala183Thr p.A183T ENST00000369503 NM_018420.2 183 Gcc/Acc 4/12 SUCCESS | |
| SLC22A15 55356 GRCh37 1 116563456 116563456 + missense_variant Missense_Mutation SNP C T NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369503.4:c.548C>T p.Ala183Val p.A183V ENST00000369503 NM_018420.2 183 gCc/gTc 4/12 SUCCESS | |
| SLC22A15 55356 GRCh37 1 116569579 116569579 + missense_variant Missense_Mutation SNP C T rs146210337 SNU324_PANCREAS ENST00000369503.4:c.664C>T p.Arg222Cys p.R222C ENST00000369503 NM_018420.2 222 Cgc/Tgc 5/12 SUCCESS | |
| SLC22A15 55356 GRCh37 1 116569579 116569579 + missense_variant Missense_Mutation SNP C T rs146210337 SNUC2A_LARGE_INTESTINE ENST00000369503.4:c.664C>T p.Arg222Cys p.R222C ENST00000369503 NM_018420.2 222 Cgc/Tgc 5/12 SUCCESS | |
| SLC22A15 55356 GRCh37 1 116569590 116569590 + missense_variant Missense_Mutation SNP G T KYSE450_OESOPHAGUS ENST00000369503.4:c.675G>T p.Arg225Ser p.R225S ENST00000369503 NM_018420.2 225 agG/agT 5/12 SUCCESS | |
| SLC22A15 55356 GRCh37 1 116574112 116574112 + missense_variant Missense_Mutation SNP C T HEC1A_ENDOMETRIUM ENST00000369503.4:c.854C>T p.Ala285Val p.A285V ENST00000369503 NM_018420.2 285 gCc/gTc 6/12 SUCCESS | |
| SLC22A15 55356 GRCh37 1 116574133 116574133 + missense_variant Missense_Mutation SNP C T NCIH2106_LUNG ENST00000369503.4:c.875C>T p.Thr292Ile p.T292I ENST00000369503 NM_018420.2 292 aCt/aTt 6/12 SUCCESS | |
| SLC22A15 55356 GRCh37 1 116574152 116574152 + synonymous_variant Silent SNP C T MDAMB415_BREAST ENST00000369503.4:c.894C>T p.Leu298= p.L298= ENST00000369503 NM_018420.2 298 ctC/ctT 6/12 SUCCESS | |
| SLC22A15 55356 GRCh37 1 116574168 116574168 + synonymous_variant Silent SNP C T rs999941617 COLO783_SKIN ENST00000369503.4:c.910C>T p.Leu304= p.L304= ENST00000369503 NM_018420.2 304 Ctg/Ttg 6/12 SUCCESS | |
| SLC22A15 55356 GRCh37 1 116574176 116574176 + synonymous_variant Silent SNP A G rs771987670 GP2D_LARGE_INTESTINE ENST00000369503.4:c.918A>G p.Gly306= p.G306= ENST00000369503 NM_018420.2 306 ggA/ggG 6/12 SUCCESS | |
| SLC22A15 55356 GRCh37 1 116574210 116574210 + splice_region_variant,intron_variant Splice_Region SNP T C rs963649215 MEC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369503.4:c.944+8T>C p.X315_splice ENST00000369503 NM_018420.2 315 SUCCESS | |
| SLC22A15 55356 GRCh37 1 116574218 116574218 + intron_variant Intron SNP C G rs150471147 FADU_UPPER_AERODIGESTIVE_TRACT ENST00000369503.4:c.944+16C>G p.*315* ENST00000369503 NM_018420.2 SUCCESS | |
| SLC22A15 55356 GRCh37 1 116574276 116574276 + intron_variant Intron SNP C G rs754692050 HCC33_LUNG ENST00000369503.4:c.944+74C>G p.*315* ENST00000369503 NM_018420.2 SUCCESS | |
| SLC22A15 55356 GRCh37 1 116574290 116574290 + intron_variant Intron SNP G A rs1657405202 KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369503.4:c.944+88G>A p.*315* ENST00000369503 NM_018420.2 SUCCESS | |
| SLC22A15 55356 GRCh37 1 116574409 116574409 + intron_variant Intron SNP G A LCLC97TM1_LUNG ENST00000369503.4:c.944+207G>A p.*315* ENST00000369503 NM_018420.2 SUCCESS | |
| SLC22A15 55356 GRCh37 1 116574414 116574414 + intron_variant Intron SNP G A KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369503.4:c.944+212G>A p.*315* ENST00000369503 NM_018420.2 SUCCESS | |
| SLC22A15 55356 GRCh37 1 116574468 116574468 + intron_variant Intron SNP G T MFE319_ENDOMETRIUM ENST00000369503.4:c.944+266G>T p.*315* ENST00000369503 NM_018420.2 SUCCESS | |
| SLC22A15 55356 GRCh37 1 116577807 116577807 + splice_acceptor_variant Splice_Site SNP G A rs758401362 OVK18_OVARY ENST00000369503.4:c.945-1G>A p.X315_splice ENST00000369503 NM_018420.2 315 SUCCESS | |
| SLC22A15 55356 GRCh37 1 116577819 116577819 + missense_variant Missense_Mutation SNP G T rs777804141 TYKNU_OVARY ENST00000369503.4:c.956G>T p.Ser319Ile p.S319I ENST00000369503 NM_018420.2 319 aGc/aTc 7/12 SUCCESS | |
| SLC22A15 55356 GRCh37 1 116577822 116577822 + missense_variant Missense_Mutation SNP T C JHUEM7_ENDOMETRIUM ENST00000369503.4:c.959T>C p.Leu320Ser p.L320S ENST00000369503 NM_018420.2 320 tTg/tCg 7/12 SUCCESS | |
| SLC22A15 55356 GRCh37 1 116577870 116577870 + missense_variant Missense_Mutation SNP T C rs1403619452 NCIH1975_LUNG ENST00000369503.4:c.1007T>C p.Ile336Thr p.I336T ENST00000369503 NM_018420.2 336 aTt/aCt 7/12 SUCCESS | |
| SLC22A15 55356 GRCh37 1 116579973 116579973 + missense_variant Missense_Mutation SNP G A MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000369503.4:c.1135G>A p.Ala379Thr p.A379T ENST00000369503 NM_018420.2 379 Gct/Act 8/12 SUCCESS | |
| SLC22A15 55356 GRCh37 1 116605413 116605413 + missense_variant Missense_Mutation SNP A T HCT15_LARGE_INTESTINE ENST00000369503.4:c.1202A>T p.His401Leu p.H401L ENST00000369503 NM_018420.2 401 cAt/cTt 9/12 SUCCESS | |
| SLC22A15 55356 GRCh37 1 116609219 116609219 + missense_variant Missense_Mutation SNP C T HEC59_ENDOMETRIUM ENST00000369503.4:c.1444C>T p.Pro482Ser p.P482S ENST00000369503 NM_018420.2 482 Ccg/Tcg 11/12 SUCCESS | |
| SLC22A15 55356 GRCh37 1 116609223 116609223 + missense_variant Missense_Mutation SNP A G rs1169724869 MDAPCA2B_PROSTATE ENST00000369503.4:c.1448A>G p.Glu483Gly p.E483G ENST00000369503 NM_018420.2 483 gAg/gGg 11/12 SUCCESS | |
| SLC22A15 55356 GRCh37 1 116609327 116609327 + stop_gained,splice_region_variant Nonsense_Mutation SNP C T rs1466418851 CORL24_LUNG ENST00000369503.4:c.1552C>T p.Gln518Ter p.Q518* ENST00000369503 NM_018420.2 518 Cag/Tag 11/12 SUCCESS | |
| SLC22A15 55356 GRCh37 1 116609736 116609736 + 3_prime_UTR_variant 3'UTR SNP C T rs748822085 GI1_CENTRAL_NERVOUS_SYSTEM ENST00000369503.4:c.*7C>T ENST00000369503 NM_018420.2 12/12 SUCCESS | |
| SLC22A15 55356 GRCh37 1 116609763 116609763 + 3_prime_UTR_variant 3'UTR SNP C T rs575201155 OVMANA_OVARY ENST00000369503.4:c.*34C>T ENST00000369503 NM_018420.2 12/12 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120457759 120457759 + 3_prime_UTR_variant 3'UTR SNP G A rs148183813 TE1_OESOPHAGUS ENST00000256646.2:c.*170C>T ENST00000256646 NM_024408.3 34/34 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120457850 120457850 + 3_prime_UTR_variant 3'UTR SNP C T rs141369184 HS840T_UPPER_AERODIGESTIVE_TRACT ENST00000256646.2:c.*79G>A ENST00000256646 NM_024408.3 34/34 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120457918 120457918 + 3_prime_UTR_variant 3'UTR SNP G A rs746381696 SJSA1_BONE ENST00000256646.2:c.*11C>T ENST00000256646 NM_024408.3 34/34 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120457933 120457933 + missense_variant Missense_Mutation SNP G A rs769520444 HEC108_ENDOMETRIUM ENST00000256646.2:c.7412C>T p.Ala2471Val p.A2471V ENST00000256646 NM_024408.3 2471 gCg/gTg 34/34 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120458147 120458147 + stop_gained Nonsense_Mutation SNP G A rs1325403451 RI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000256646.2:c.7198C>T p.Arg2400Ter p.R2400* ENST00000256646 NM_024408.3 2400 Cga/Tga 34/34 SUCCESS | |
| 1 120458436 120458436 G G SNUC4_LARGE_INTESTINE FAILED | |
| NOTCH2 4853 GRCh37 1 120458698 120458698 + missense_variant Missense_Mutation SNP G C ISTMES2_PLEURA ENST00000256646.2:c.6647C>G p.Thr2216Ser p.T2216S ENST00000256646 NM_024408.3 2216 aCt/aGt 34/34 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120458774 120458774 + missense_variant Missense_Mutation SNP C T SNU1040_LARGE_INTESTINE ENST00000256646.2:c.6571G>A p.Ala2191Thr p.A2191T ENST00000256646 NM_024408.3 2191 Gcc/Acc 34/34 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120458871 120458871 + missense_variant Missense_Mutation SNP G C JHUEM2_ENDOMETRIUM ENST00000256646.2:c.6474C>G p.His2158Gln p.H2158Q ENST00000256646 NM_024408.3 2158 caC/caG 34/34 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120458899 120458899 + missense_variant Missense_Mutation SNP G A KM12_LARGE_INTESTINE ENST00000256646.2:c.6446C>T p.Ser2149Phe p.S2149F ENST00000256646 NM_024408.3 2149 tCc/tTc 34/34 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120458944 120458944 + missense_variant Missense_Mutation SNP G T JHUEM7_ENDOMETRIUM ENST00000256646.2:c.6401C>A p.Ser2134Tyr p.S2134Y ENST00000256646 NM_024408.3 2134 tCt/tAt 34/34 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120459032 120459032 + missense_variant Missense_Mutation SNP G A rs372538600 U87MG_CENTRAL_NERVOUS_SYSTEM ENST00000256646.2:c.6313C>T p.Arg2105Trp p.R2105W ENST00000256646 NM_024408.3 2105 Cgg/Tgg 34/34 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120459094 120459094 + missense_variant Missense_Mutation SNP A T rs757880322 BICR6_UPPER_AERODIGESTIVE_TRACT ENST00000256646.2:c.6251T>A p.Ile2084Asn p.I2084N ENST00000256646 NM_024408.3 2084 aTc/aAc 34/34 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120459112 120459112 + missense_variant Missense_Mutation SNP G C HSC4_UPPER_AERODIGESTIVE_TRACT ENST00000256646.2:c.6233C>G p.Ser2078Cys p.S2078C ENST00000256646 NM_024408.3 2078 tCt/tGt 34/34 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120459187 120459187 + missense_variant Missense_Mutation SNP C T SNU1040_LARGE_INTESTINE ENST00000256646.2:c.6158G>A p.Arg2053His p.R2053H ENST00000256646 NM_024408.3 2053 cGc/cAc 34/34 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120461043 120461043 + missense_variant Missense_Mutation SNP G A SET2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000256646.2:c.5915C>T p.Ala1972Val p.A1972V ENST00000256646 NM_024408.3 1972 gCa/gTa 32/34 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120462053 120462053 + stop_gained Nonsense_Mutation SNP G C NCIH2009_LUNG ENST00000256646.2:c.5663C>G p.Ser1888Ter p.S1888* ENST00000256646 NM_024408.3 1888 tCa/tGa 31/34 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120462092 120462092 + missense_variant Missense_Mutation SNP C A rs148613210 NCIH211_LUNG ENST00000256646.2:c.5624G>T p.Arg1875Leu p.R1875L ENST00000256646 NM_024408.3 1875 cGg/cTg 31/34 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120462093 120462093 + missense_variant Missense_Mutation SNP G A rs755328078 CW2_LARGE_INTESTINE ENST00000256646.2:c.5623C>T p.Arg1875Trp p.R1875W ENST00000256646 NM_024408.3 1875 Cgg/Tgg 31/34 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120462198 120462198 + missense_variant Missense_Mutation SNP C A CW2_LARGE_INTESTINE ENST00000256646.2:c.5518G>T p.Gly1840Cys p.G1840C ENST00000256646 NM_024408.3 1840 Ggc/Tgc 31/34 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120462971 120462971 + missense_variant Missense_Mutation SNP C T rs1317975644 SKUT1_SOFT_TISSUE ENST00000256646.2:c.5360G>A p.Arg1787Gln p.R1787Q ENST00000256646 NM_024408.3 1787 cGg/cAg 30/34 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120463021 120463021 + splice_acceptor_variant Splice_Site SNP C A LNCAPCLONEFGC_PROSTATE ENST00000256646.2:c.5311-1G>T p.X1771_splice ENST00000256646 NM_024408.3 1771 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120465339 120465339 + missense_variant Missense_Mutation SNP T G rs148354054 GAMG_CENTRAL_NERVOUS_SYSTEM ENST00000256646.2:c.4922A>C p.Lys1641Thr p.K1641T ENST00000256646 NM_024408.3 1641 aAg/aCg 27/34 SUCCESS | |
| 1 120466308 120466309 CT CT SKOV3_OVARY FAILED | |
| NOTCH2 4853 GRCh37 1 120466369 120466369 + stop_gained Nonsense_Mutation SNP G A NCIH2106_LUNG ENST00000256646.2:c.4750C>T p.Gln1584Ter p.Q1584* ENST00000256646 NM_024408.3 1584 Cag/Tag 26/34 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120466387 120466387 + missense_variant Missense_Mutation SNP G A rs775412281 HT115_LARGE_INTESTINE ENST00000256646.2:c.4732C>T p.Arg1578Cys p.R1578C ENST00000256646 NM_024408.3 1578 Cgc/Tgc 26/34 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120466503 120466503 + missense_variant Missense_Mutation SNP G A COLO792_SKIN ENST00000256646.2:c.4616C>T p.Pro1539Leu p.P1539L ENST00000256646 NM_024408.3 1539 cCt/cTt 26/34 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120466578 120466578 + missense_variant Missense_Mutation SNP T C rs893877808 KG1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000256646.2:c.4541A>G p.Lys1514Arg p.K1514R ENST00000256646 NM_024408.3 1514 aAa/aGa 26/34 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120467939 120467939 + missense_variant Missense_Mutation SNP G T RL952_ENDOMETRIUM ENST00000256646.2:c.4500C>A p.Ser1500Arg p.S1500R ENST00000256646 NM_024408.3 1500 agC/agA 25/34 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120468002 120468002 + missense_variant Missense_Mutation SNP C A rs1175903456 DMS454_LUNG ENST00000256646.2:c.4437G>T p.Gln1479His p.Q1479H ENST00000256646 NM_024408.3 1479 caG/caT 25/34 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120468048 120468048 + missense_variant Missense_Mutation SNP G A SNU1040_LARGE_INTESTINE ENST00000256646.2:c.4391C>T p.Ala1464Val p.A1464V ENST00000256646 NM_024408.3 1464 gCc/gTc 25/34 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120468187 120468188 + missense_variant Missense_Mutation DNP GG AA COLO679_SKIN ENST00000256646.2:c.4251_4252delinsTT p.Pro1418Ser p.P1418S ENST00000256646 NM_024408.3 1417 ccCCcc/ccTTcc 25/34 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120469210 120469210 + missense_variant Missense_Mutation SNP T C HEC108_ENDOMETRIUM ENST00000256646.2:c.3917A>G p.Asp1306Gly p.D1306G ENST00000256646 NM_024408.3 1306 gAt/gGt 24/34 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120469232 120469232 + missense_variant,splice_region_variant Missense_Mutation SNP G A rs371580595 SKUT1_SOFT_TISSUE ENST00000256646.2:c.3895C>T p.Arg1299Trp p.R1299W ENST00000256646 NM_024408.3 1299 Cgg/Tgg 24/34 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120469235 120469235 + splice_acceptor_variant Splice_Site SNP C T NCIH2106_LUNG ENST00000256646.2:c.3893-1G>A p.X1298_splice ENST00000256646 NM_024408.3 1298 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120471800 120471800 + missense_variant Missense_Mutation SNP G A rs782677147 SW48_LARGE_INTESTINE ENST00000256646.2:c.3691C>T p.Arg1231Trp p.R1231W ENST00000256646 NM_024408.3 1231 Cgg/Tgg 23/34 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120478007 120478007 + intron_variant Intron SNP A T LS123_LARGE_INTESTINE ENST00000256646.2:c.3655+88T>A p.*1219* ENST00000256646 NM_024408.3 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120478039 120478039 + intron_variant Intron SNP G A BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE ENST00000256646.2:c.3655+56C>T p.*1219* ENST00000256646 NM_024408.3 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120478085 120478085 + intron_variant Intron SNP G A PECAPJ15_UPPER_AERODIGESTIVE_TRACT ENST00000256646.2:c.3655+10C>T p.*1219* ENST00000256646 NM_024408.3 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120479948 120479948 + missense_variant Missense_Mutation SNP T C rs142876168 IGROV1_OVARY ENST00000256646.2:c.3479A>G p.His1160Arg p.H1160R ENST00000256646 NM_024408.3 1160 cAc/cGc 21/34 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120479948 120479948 + missense_variant Missense_Mutation SNP T C rs142876168 SU8686_PANCREAS ENST00000256646.2:c.3479A>G p.His1160Arg p.H1160R ENST00000256646 NM_024408.3 1160 cAc/cGc 21/34 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120480030 120480030 + missense_variant Missense_Mutation SNP G A CW2_LARGE_INTESTINE ENST00000256646.2:c.3397C>T p.His1133Tyr p.H1133Y ENST00000256646 NM_024408.3 1133 Cat/Tat 21/34 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120480539 120480539 + missense_variant Missense_Mutation SNP C A NCIH1793_LUNG ENST00000256646.2:c.3278G>T p.Trp1093Leu p.W1093L ENST00000256646 NM_024408.3 1093 tGg/tTg 20/34 SUCCESS | |
| NOTCH2 4853 GRCh37 1 120480570 120480571 + frameshift_variant Frame_Shift_Ins INS - T rs1553195973 22RV1_PROSTATE ENST00000256646.2:c.3246dup p.Ala1083SerfsTer17 p.A1083Sfs*17 ENST00000256646 NM_024408.3 1082 -/A 20/34 SUCCESS | |
| NOTCH2 4853 GRC |
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