Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand 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 Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample DNAJC16 23341 broad.mit.edu 37 1 15892459 15892459 + Missense_Mutation SNP C C G TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr1:15892459C>G ENST00000375847.3 + 12 1808 c.1644C>G c.(1642-1644)ttC>ttG p.F548L DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375849.1_Missense_Mutation_p.F548L|DNAJC16_ENST00000375838.1_Missense_Mutation_p.F548L NM_015291.2 NP_056106.1 Q9Y2G8 DJC16_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 16 548 cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1) 18 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) CTGCCCTCTTCATCCTCTTCG 0.443 74 258 --- --- --- --- UBAP2L 9898 broad.mit.edu 37 1 154224082 154224082 + Missense_Mutation SNP C C A TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr1:154224082C>A ENST00000428931.1 + 14 1784 c.1617C>A c.(1615-1617)agC>agA p.S539R UBAP2L_ENST00000271877.7_Missense_Mutation_p.S550R|UBAP2L_ENST00000343815.6_Missense_Mutation_p.S539R|UBAP2L_ENST00000361546.2_Missense_Mutation_p.S539R NM_014847.3 NP_055662.3 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like 539 binding of sperm to zona pellucida protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2) 50 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CCACCACGAGCGCCTCTTCAA 0.493 3 98 --- --- --- --- NUP210 23225 broad.mit.edu 37 3 13438886 13438886 + Missense_Mutation SNP T T C TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr3:13438886T>C ENST00000254508.5 - 3 489 c.407A>G c.(406-408)gAg>gGg p.E136G NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 136 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) GATCTTCAGCTCCAGGGGGGA 0.602 19 41 --- --- --- --- COL7A1 1294 broad.mit.edu 37 3 48623134 48623134 + Missense_Mutation SNP G G T TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr3:48623134G>T ENST00000328333.8 - 30 3927 c.3820C>A c.(3820-3822)Cct>Act p.P1274T COL7A1_ENST00000454817.1_Missense_Mutation_p.P1274T NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1274 Interrupted collagenous region.|Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGGAGGCCAGGGTCGCCAGGA 0.607 53 123 --- --- --- --- RASSF1 11186 broad.mit.edu 37 3 50369518 50369518 + Missense_Mutation SNP T T C TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr3:50369518T>C ENST00000359365.4 - 3 531 c.425A>G c.(424-426)tAc>tGc p.Y142C RASSF1_ENST00000327761.3_Missense_Mutation_p.Y72C|RASSF1_ENST00000357043.2_Missense_Mutation_p.Y146C|RASSF1_ENST00000395126.3_5'UTR NM_001206957.1|NM_007182.4|NM_170714.1 NP_001193886.1|NP_009113.3|NP_733832.1 Q9NS23 RASF1_HUMAN Ras association (RalGDS/AF-6) domain family member 1 146 cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole identical protein binding|protein binding|protein N-terminus binding|zinc ion binding lung(2)|ovary(1)|skin(1)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) CTGGGCATTGTACTCCTTGAT 0.557 3 103 --- --- --- --- GRXCR1 389207 broad.mit.edu 37 4 42895492 42895492 + Missense_Mutation SNP G G A TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr4:42895492G>A ENST00000399770.2 + 1 209 c.209G>A c.(208-210)gGt>gAt p.G70D NM_001080476.2 NP_001073945.1 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 70 cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 GAGTCAGAAGGTGATGAGAAT 0.463 4 154 --- --- --- --- SPATA18 132671 broad.mit.edu 37 4 52944970 52944970 + Missense_Mutation SNP T T A TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr4:52944970T>A ENST00000295213.4 + 8 1464 c.1090T>A c.(1090-1092)Tct>Act p.S364T SPATA18_ENST00000419395.2_Missense_Mutation_p.S332T NM_145263.2 NP_660306.1 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 364 mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) GTTGACACCATCTTATGTGGG 0.378 6 111 --- --- --- --- UGT2B11 10720 broad.mit.edu 37 4 70066349 70066349 + Missense_Mutation SNP C C A TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr4:70066349C>A ENST00000446444.1 - 6 1407 c.1399G>T c.(1399-1401)Gtc>Ttc p.V467F RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 467 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 TGGGGCATGACAAATTCAATC 0.438 27 99 --- --- --- --- HELQ 113510 broad.mit.edu 37 4 84368107 84368107 + Missense_Mutation SNP T T C TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr4:84368107T>C ENST00000295488.3 - 4 1435 c.1273A>G c.(1273-1275)Act>Gct p.T425A HELQ_ENST00000510985.1_Intron NM_133636.2 NP_598375 Q8TDG4 HELQ_HUMAN helicase, POLQ-like 425 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2) 38 CTTCTTTTAGTTGGAGGAAAT 0.353 Other identified genes with known or suspected DNA repair function 12 48 --- --- --- --- TENM3 55714 broad.mit.edu 37 4 183675933 183675933 + Silent SNP C C T TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr4:183675933C>T ENST00000511685.1 + 22 4536 c.4413C>T c.(4411-4413)ctC>ctT p.L1471L TENM3_ENST00000406950.2_Silent_p.L1471L|TENM3_ENST00000502950.1_3'UTR teneurin transmembrane protein 3 ATGCCAAACTCAGTGCCCCAT 0.498 14 46 --- --- --- --- TAS2R5 54429 broad.mit.edu 37 7 141490469 141490469 + Missense_Mutation SNP A A G TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr7:141490469A>G ENST00000247883.4 + 1 453 c.308A>G c.(307-309)tAt>tGt p.Y103C NM_018980.2 NP_061853.1 Q9NYW4 TA2R5_HUMAN taste receptor, type 2, member 5 103 chemosensory behavior|sensory perception of taste taste receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 Melanoma(164;0.0171) AGTGTCTTCTATTGCAAGAAG 0.517 11 28 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151970814 151970814 + Missense_Mutation SNP G G T TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr7:151970814G>T ENST00000355193.2 - 7 1206 c.988C>A c.(988-990)Cac>Aac p.H330N KMT2C_ENST00000262189.6_Missense_Mutation_p.H330N lysine (K)-specific methyltransferase 2C TGGTCAATGTGTTCTGGACAA 0.393 4 196 --- --- --- --- EN2 2020 broad.mit.edu 37 7 155255151 155255151 + Silent SNP G G A TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr7:155255151G>A ENST00000297375.4 + 2 1020 c.771G>A c.(769-771)caG>caA p.Q257Q NM_001427.3 NP_001418.2 P19622 HME2_HUMAN engrailed homeobox 2 257 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(1)|lung(2) 4 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGCAGCTGCAGAGGCTCAAGG 0.592 12 52 --- --- --- --- LPPR1 54886 broad.mit.edu 37 9 104086314 104086314 + Missense_Mutation SNP C C A TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr9:104086314C>A ENST00000374874.3 + 8 1392 c.953C>A c.(952-954)tCt>tAt p.S318Y LPPR1_ENST00000395056.2_Missense_Mutation_p.S318Y NM_207299.1 NP_997182.1 Q8TBJ4 LPPR1_HUMAN 318 integral to membrane catalytic activity CAGAATCACTCTGCGTCCATG 0.418 4 47 --- --- --- --- PLCE1 51196 broad.mit.edu 37 10 95849072 95849072 + Missense_Mutation SNP A A T TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr10:95849072A>T ENST00000371375.1 + 1 221 c.221A>T c.(220-222)gAg>gTg p.E74V PLCE1_ENST00000371380.3_Intron|PLCE1_ENST00000260766.3_Intron|RP11-429H9.4_ENST00000438899.1_RNA|PLCE1_ENST00000371385.3_Missense_Mutation_p.E74V Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 0 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) CCGCTCTCTGAGGTACCCAAT 0.512 6 79 --- --- --- --- ADAM12 8038 broad.mit.edu 37 10 128019054 128019054 + Missense_Mutation SNP C C G TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr10:128019054C>G ENST00000368679.4 - 2 422 c.113G>C c.(112-114)aGa>aCa p.R38T ADAM12_ENST00000368676.4_Missense_Mutation_p.R38T NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 38 cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) TTCATCAGCTCTTCCTTGGTT 0.458 20 89 --- --- --- --- CPSF7 79869 broad.mit.edu 37 11 61196740 61196740 + Missense_Mutation SNP T T C TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr11:61196740T>C ENST00000340437.4 - 2 177 c.97A>G c.(97-99)Atc>Gtc p.I33V CPSF7_ENST00000448745.1_5'UTR|CPSF7_ENST00000541963.1_5'UTR|CPSF7_ENST00000394888.4_5'UTR|CPSF7_ENST00000439958.3_5'UTR NM_024811.3 NP_079087.3 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa 0 mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22 GTCCGGAGGATGGACAAAGTA 0.502 18 61 --- --- --- --- PRKAG1 5571 broad.mit.edu 37 12 49399105 49399105 + Missense_Mutation SNP T T C TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr12:49399105T>C ENST00000548065.1 - 5 749 c.293A>G c.(292-294)tAc>tGc p.Y98C RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000316299.5_Missense_Mutation_p.Y107C|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.Y47C|PRKAG1_ENST00000552212.1_Missense_Mutation_p.Y66C|PRKAG1_ENST00000395170.3_Missense_Mutation_p.Y14C P54619 AAKG1_HUMAN protein kinase, AMP-activated, gamma 1 non-catalytic subunit 98 CBS 1. cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis cytosol cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 9 TGATTTATAGTAGCGGTGCAG 0.478 26 80 --- --- --- --- RPGRIP1 57096 broad.mit.edu 37 14 21790127 21790127 + Nonsense_Mutation SNP G G T TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr14:21790127G>T ENST00000206660.6 + 13 1726 c.1726G>T c.(1726-1728)Gaa>Taa p.E576* RPGRIP1_ENST00000382933.4_Nonsense_Mutation_p.E218*|RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000556336.1_Nonsense_Mutation_p.E549*|RPGRIP1_ENST00000557771.1_Nonsense_Mutation_p.E549*|RPGRIP1_ENST00000400017.2_Nonsense_Mutation_p.E576* Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 576 response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) CAAGCAGCTGGAAGGTATTTT 0.443 5 26 --- --- --- --- ARHGAP44 9912 broad.mit.edu 37 17 12847399 12847399 + Silent SNP G G A TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr17:12847399G>A ENST00000379672.5 + 10 1047 c.747G>A c.(745-747)gaG>gaA p.E249E ARHGAP44_ENST00000340825.3_Silent_p.E249E|ARHGAP44_ENST00000262444.9_Silent_p.E249E NM_014859.4 NP_055674.4 Q17R89 RHG44_HUMAN Rho GTPase activating protein 44 249 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 CCTGGGTAGAGAAGCCTTCCT 0.572 3 13 --- --- --- --- CENPB 1059 broad.mit.edu 37 20 3766889 3766889 + Missense_Mutation SNP A A T TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr20:3766889A>T ENST00000379751.4 - 1 448 c.242T>A c.(241-243)cTc>cAc p.L81H NM_001810.5 NP_001801.1 P07199 CENPB_HUMAN centromere protein B, 80kDa 81 HTH CENPB-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|satellite DNA binding kidney(1)|large_intestine(2)|lung(4)|skin(1) 8 CCAGGCGATGAGCAAGCCCTC 0.652 21 44 --- --- --- --- ZRSR2 8233 broad.mit.edu 37 X 15809137 15809137 + Splice_Site SNP G G T TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chrX:15809137G>T ENST00000307771.7 + 2 145 c.e2+1 ZRSR2_ENST00000468028.1_Splice_Site|ZRSR2_ENST00000380308.3_Splice_Site NM_005089.3 NP_005080.1 Q15696 U2AFM_HUMAN zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2 spliceosome assembly U12-type spliceosomal complex nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2) 48 Hepatocellular(33;0.183) AGAGACTCAGGTGATGGACTC 0.458 """F, S, Mis""" """MDS, CLL""" 6 13 --- --- --- --- MIR4485 100616263 broad.mit.edu 37 M 2622 2622 + RNA SNP G G A TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chrM:2622G>A ENST00000387347.2 + 0 952 NR_039705.1 tccttaaatagggacctgtat 0.507 14 6 --- --- --- --- MT-ND4 4538 broad.mit.edu 37 M 11383 11383 + Silent SNP T T C TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chrM:11383T>C ENST00000361381.2 + 1 624 c.624T>C c.(622-624)ccT>ccC p.P208P mitochondrially encoded NADH dehydrogenase 4 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1) 13 GTAAAGATACCTCTTTACGGA 0.433 6 5 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49437439 49437440 + Frame_Shift_Ins INS - - A TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr12:49437439_49437440insA ENST00000301067.7 - 23 5444_5445 c.5445_5446insT c.(5443-5448)aaggaafs p.E1816fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GTGGGGAGTTCCTTCCTTTCTG 0.525 OREG0021780 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 45 --- --- --- --- ANKRD11 29123 broad.mit.edu 37 16 89349914 89349916 + In_Frame_Del DEL CTT CTT - TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr16:89349914_89349916delCTT ENST00000301030.4 - 9 3494_3496 c.3034_3036delAAG c.(3034-3036)aagdel p.K1012del ANKRD11_ENST00000378330.2_In_Frame_Del_p.K1012del NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1012 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CGGGGCCATCCTTCTTCTCCTTC 0.512 27 94 --- --- --- ---