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 pox qox pox_cutoff isArtifactMode oxoGCut MAGI2 9863 broad.mit.edu 37 7 77764435 77764435 + Silent SNP C C A TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr7:77764435C>A ENST00000354212.4 - 17 3187 c.2934G>T c.(2932-2934)gtG>gtT p.V978V MAGI2_ENST00000419488.1_Silent_p.V964V|MAGI2_ENST00000522391.1_Silent_p.V978V NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 978 PDZ 5. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) ACTGGCCATTCACTGCTAGGA 0.502000 31 65 1.7881e-09 1.99847e-09 1 1 0 CREBBP 1387 broad.mit.edu 37 16 3778738 3778738 + Missense_Mutation SNP G G A TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr16:3778738G>A ENST00000262367.5 - 31 7119 c.6310C>T c.(6310-6312)Cgc>Tgc p.R2104C CREBBP_ENST00000382070.3_Missense_Mutation_p.R2066C NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 2104 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TTGGCTGTGCGCTGTTTGATG 0.622000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 7 398 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48713823 48713823 + Missense_Mutation SNP G G A TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr15:48713823G>A ENST00000316623.5 - 62 8086 c.7631C>T c.(7630-7632)aCt>aTt p.T2544I NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 2544 EGF-like 44; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GCTTCCAGGAGTGTTCTGGCA 0.527000 12 22 0 0 1 0 0 NQO1 1728 broad.mit.edu 37 16 69752046 69752046 + Missense_Mutation SNP C C T TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr16:69752046C>T ENST00000320623.5 - 3 794 c.283G>A c.(283-285)Gca>Aca p.A95T NQO1_ENST00000561500.1_Missense_Mutation_p.A95T|NQO1_ENST00000564043.1_Missense_Mutation_p.A74T|NQO1_ENST00000379046.2_Missense_Mutation_p.A95T|NQO1_ENST00000439109.2_Missense_Mutation_p.A95T|NQO1_ENST00000379047.3_Missense_Mutation_p.A95T NM_000903.2 NP_000894.1 P15559 NQO1_HUMAN NAD(P)H dehydrogenase, quinone 1 95 nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process cytosol coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1) 10 Dicumarol(DB00266)|Menadione(DB00170) ACAAGGTCTGCGGCTTCCAGC 0.488000 5 325 0 0 1 0 0 KIAA0141 9812 broad.mit.edu 37 5 141305054 141305054 + Missense_Mutation SNP C C T TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr5:141305054C>T ENST00000432126.2 + 3 360 c.226C>T c.(226-228)Cgt>Tgt p.R76C KIAA0141_ENST00000194118.4_Missense_Mutation_p.R76C NM_001142603.1|NM_014773.3 NP_001136075.1|NP_055588.3 Q14154 DELE_HUMAN KIAA0141 76 apoptosis|regulation of caspase activity mitochondrion protein binding endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3) 16 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATGTCTTCCCGTGTCTCCCC 0.547000 4 155 0 0 1 0 0 ZNF746 155061 broad.mit.edu 37 7 149174826 149174826 + Missense_Mutation SNP C C T rs147702038 TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr7:149174826C>T ENST00000340622.3 - 5 821 c.541G>A c.(541-543)Gcc>Acc p.A181T ZNF746_ENST00000458143.2_Missense_Mutation_p.A181T Q6NUN9 ZN746_HUMAN zinc finger protein 746 181 negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent cytoplasm|nucleus transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) AGGTCTGGGGCGGGAACTGGG 0.647000 8 25 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50432638 50432638 + Missense_Mutation SNP T T A TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr18:50432638T>A ENST00000442544.2 + 3 1253 c.637T>A c.(637-639)Tca>Aca p.S213T DCC_ENST00000412726.1_Missense_Mutation_p.S61T NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 213 Ig-like C2-type 2. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TTACCGATGCTCAGCTCGAAA 0.493000 38 61 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39920741 39920741 + Missense_Mutation SNP G G A TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr1:39920741G>A ENST00000564288.1 + 89 21824 c.21047G>A c.(21046-21048)cGa>cAa p.R7016Q MACF1_ENST00000289893.4_Missense_Mutation_p.R5459Q|MACF1_ENST00000539005.1_Missense_Mutation_p.R4827Q|MACF1_ENST00000567887.1_Missense_Mutation_p.R7053Q|MACF1_ENST00000361689.2_Missense_Mutation_p.R4957Q|MACF1_ENST00000372915.3_Missense_Mutation_p.R6915Q|MACF1_ENST00000317713.7_Missense_Mutation_p.R4957Q|MACF1_ENST00000545844.1_Missense_Mutation_p.R4957Q Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 6915 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding p.R4957Q(1)|p.R5459Q(1) breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AACATTGACCGAGTTAAAGCC 0.527000 9 68 0 0 1 0 0 MFN2 9927 broad.mit.edu 37 1 12052706 12052706 + Silent SNP G G A TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr1:12052706G>A ENST00000235329.5 + 4 592 c.270G>A c.(268-270)gaG>gaA p.E90E MFN2_ENST00000444836.1_Silent_p.E90E NM_014874.3 NP_055689.1 O95140 MFN2_HUMAN mitofusin 2 90 blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion cytosol|integral to membrane|intrinsic to mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 20 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) GCATCAGTGAGGTGCTGGCTC 0.532000 96 280 0 0 1 0 0 PTPRN2 5799 broad.mit.edu 37 7 157931053 157931053 + Silent SNP C C T rs144691858 byFrequency TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr7:157931053C>T ENST00000389413.3 - 7 1168 c.1065G>A c.(1063-1065)gcG>gcA p.A355A PTPRN2_ENST00000404321.2_Silent_p.A378A|PTPRN2_ENST00000409483.1_Silent_p.A317A|PTPRN2_ENST00000389418.4_Silent_p.A355A|PTPRN2_ENST00000389416.4_Silent_p.A338A NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 355 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) CTCCCAGGGCCGCTCTCCCAG 0.672000 39 41 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238275374 238275374 + Missense_Mutation SNP G G A TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr2:238275374G>A ENST00000295550.4 - 11 5908 c.5456C>T c.(5455-5457)gCg>gTg p.A1819V COL6A3_ENST00000346358.4_Missense_Mutation_p.A1619V|COL6A3_ENST00000409809.1_Missense_Mutation_p.A1613V|COL6A3_ENST00000472056.1_Missense_Mutation_p.A1212V|COL6A3_ENST00000347401.3_Missense_Mutation_p.A1618V|COL6A3_ENST00000353578.4_Missense_Mutation_p.A1613V NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1819 Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TTCATGCATCGCATCATGCAA 0.498000 60 131 0 0 1 0 0 UBFD1 56061 broad.mit.edu 37 16 23578315 23578315 + Silent SNP T T C TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr16:23578315T>C ENST00000395878.3 + 6 1125 c.744T>C c.(742-744)acT>acC p.T248T UBFD1_ENST00000567212.1_Silent_p.T239T|UBFD1_ENST00000219638.4_Silent_p.T472T NM_019116.2 NP_061989.2 O14562 UBFD1_HUMAN ubiquitin family domain containing 1 248 endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 GBM - Glioblastoma multiforme(48;0.0331) TAGAGCGGACTGAGAAATTGC 0.498000 5 119 0 0 1 0 0 KCNJ5 3762 broad.mit.edu 37 11 128781968 128781968 + Missense_Mutation SNP G G T TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr11:128781968G>T ENST00000529694.1 + 2 1176 c.800G>T c.(799-801)cGc>cTc p.R267L KCNJ5_ENST00000338350.4_Missense_Mutation_p.R267L|KCNJ5_ENST00000533599.1_Missense_Mutation_p.R267L NM_000890.3 NP_000881.3 P48544 IRK5_HUMAN potassium inwardly-rectifying channel, subfamily J, member 5 267 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) GGCGACGACCGCCTCTTCCTT 0.552000 46 89 2.81305e-35 3.3405e-35 1 1 0 NEBL 10529 broad.mit.edu 37 10 21158736 21158736 + Missense_Mutation SNP G G A TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr10:21158736G>A ENST00000377122.4 - 6 911 c.515C>T c.(514-516)aCg>aTg p.T172M NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377119.1_Missense_Mutation_p.T172M|NEBL_ENST00000377159.4_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 172 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TGCACTGTACGTGTGGGTGTC 0.378000 24 42 0 0 1 0 0 ADAP1 11033 broad.mit.edu 37 7 939748 939748 + Silent SNP C C G rs139452042 TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr7:939748C>G ENST00000265846.5 - 8 1005 c.786G>C c.(784-786)acG>acC p.T262T ADAP1_ENST00000539900.1_Silent_p.T273T|ADAP1_ENST00000449296.2_Silent_p.T190T NM_006869.2 NP_006860.1 O75689 ADAP1_HUMAN ArfGAP with dual PH domains 1 262 PH 2. cell surface receptor linked signaling pathway|regulation of ARF GTPase activity cytoplasm|nucleus|plasma membrane ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1) 6 CCTTGGGCCCCGTCTTCTCCA 0.647000 51 138 0 0 1 0 0 ZBTB47 92999 broad.mit.edu 37 3 42704607 42704607 + Silent SNP G G A TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr3:42704607G>A ENST00000457842.3 + 4 2006 c.597G>A c.(595-597)ccG>ccA p.P199P ZBTB47_ENST00000232974.6_Silent_p.P575P|ZBTB47_ENST00000505904.1_Silent_p.P121P NM_145166.3 NP_660149.2 Q9UFB7 ZBT47_HUMAN zinc finger and BTB domain containing 47 199 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1) 13 KIRC - Kidney renal clear cell carcinoma(284;0.216) GGGAGAAGCCGTTCAGATGTG 0.602000 6 118 0 0 1 0 0 ANKRD35 148741 broad.mit.edu 37 1 145561391 145561391 + Missense_Mutation SNP C C T TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr1:145561391C>T ENST00000355594.4 + 10 1166 c.1079C>T c.(1078-1080)tCt>tTt p.S360F NM_144698.3 NP_653299.3 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 360 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) AAGCAAGGCTCTAGTCTCCGG 0.592000 22 40 0 0 1 0 0 OR8B2 26595 broad.mit.edu 37 11 124252655 124252655 + Silent SNP G G A TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr11:124252655G>A ENST00000375013.2 - 1 603 c.585C>T c.(583-585)aaC>aaT p.N195N NM_001005468.1 NP_001005468.1 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, member 2 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1) 23 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) CAACCACCTCGTTGACATAGG 0.438000 37 90 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6125273 6125273 + Missense_Mutation SNP C C A TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr12:6125273C>A ENST00000261405.5 - 31 5691 c.5437G>T c.(5437-5439)Gat>Tat p.D1813Y NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 1813 VWFA 3; main binding site for collagens type I and III. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) CTGGCGGCATCAGCTGCTGCA 0.517000 10 44 6.40141e-05 6.75704e-05 1 1 0 TNS1 7145 broad.mit.edu 37 2 218683436 218683436 + Missense_Mutation SNP G G T TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr2:218683436G>T ENST00000171887.4 - 24 3759 c.3307C>A c.(3307-3309)Ccc>Acc p.P1103T TNS1_ENST00000419504.1_Missense_Mutation_p.P1090T|TNS1_ENST00000430930.1_Missense_Mutation_p.P1082T NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 1103 Ser-rich. cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GGCGTCCGGGGACCCTGGTCA 0.617000 5 73 0.014758 0.014758 1 1 0 MLLT3 4300 broad.mit.edu 37 9 20414280 20414280 + Silent SNP G G A TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr9:20414280G>A ENST00000380338.4 - 5 850 c.564C>T c.(562-564)agC>agT p.S188S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 188 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S188S(1) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) TGGTActactgctgctgctgc 0.502000 T MLL ALL 5 134 0 0 1 0 0 CCDC129 223075 broad.mit.edu 37 7 31690866 31690866 + Missense_Mutation SNP C C A TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr7:31690866C>A ENST00000319386.3 + 12 3243 c.2250C>A c.(2248-2250)gaC>gaA p.D750E CCDC129_ENST00000451887.2_Missense_Mutation_p.D924E|CCDC129_ENST00000407970.3_Missense_Mutation_p.D898E|CCDC129_ENST00000409210.1_Missense_Mutation_p.D806E Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 898 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 TTTCCAGGGACATGTCAGAGG 0.473000 38 97 1.69901e-12 1.93687e-12 1 1 0 ALDH1L1 10840 broad.mit.edu 37 3 125850358 125850358 + Missense_Mutation SNP G G T TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr3:125850358G>T ENST00000393434.2 - 13 1841 c.1492C>A c.(1492-1494)Cag>Aag p.Q498K ALDH1L1_ENST00000452905.2_Missense_Mutation_p.Q397K|ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.Q498K|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.Q508K NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 498 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) TCCTGGTGCTGCTCCATGAGA 0.642000 7 67 0.00448238 0.00456242 1 1 0 PDZD2 23037 broad.mit.edu 37 5 32090990 32090990 + Missense_Mutation SNP G G A TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr5:32090990G>A ENST00000438447.1 + 20 7824 c.7436G>A c.(7435-7437)cGc>cAc p.R2479H PDZD2_ENST00000282493.3_Missense_Mutation_p.R2479H O15018 PDZD2_HUMAN PDZ domain containing 2 2479 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CCCGTGTCCCGCTCCAAGCTC 0.592000 4 124 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178916936 178916936 + Missense_Mutation SNP G G A TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr3:178916936G>A ENST00000263967.3 + 2 480 c.323G>A c.(322-324)cGt>cAt p.R108H NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 108 PI3K-ABD. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.R108H(11)|p.R108L(2)|p.G106_R108delGNR(2)|p.G106_R108del(2)|p.R108P(1)|p.R108del(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GTAGGCAACCGTGAAGAAAAG 0.338000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 6 96 0 0 1 0 0 ATG16L1 55054 broad.mit.edu 37 2 234178654 234178654 + Silent SNP G G A TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr2:234178654G>A ENST00000392017.4 + 6 905 c.648G>A c.(646-648)cgG>cgA p.R216R ATG16L1_ENST00000498620.1_3'UTR|ATG16L1_ENST00000347464.5_Silent_p.R72R|ATG16L1_ENST00000392018.1_Silent_p.R216R|ATG16L1_ENST00000373525.5_Silent_p.R72R|ATG16L1_ENST00000392020.4_Silent_p.R216R NM_001190266.1|NM_001190267.1|NM_030803.6 NP_001177195.1|NP_001177196.1|NP_110430.5 Q676U5 A16L1_HUMAN autophagy related 16-like 1 (S. cerevisiae) 216 autophagic vacuole assembly|protein homooligomerization|protein transport autophagic vacuole|pre-autophagosomal structure membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1) 25 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539) Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11) ACAGGAGGCGGCAAGCCCGGC 0.433000 4 116 0 0 1 0 0 HCG17 0 broad.mit.edu 37 6 30227450 30227450 + RNA SNP C C G TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr6:30227450C>G ENST00000453558.1 - 0 126 HLA-L_ENST00000463348.1_RNA CTTGGGGGCCCTGGCCCTGAC 0.716000 3 46 0 0 1 0 0 NDUFB10 4716 broad.mit.edu 37 16 2011248 2011248 + Missense_Mutation SNP C C G TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr16:2011248C>G ENST00000543683.2 + 2 307 c.225C>G c.(223-225)gaC>gaG p.D75E NDUFB10_ENST00000569148.1_Missense_Mutation_p.D75E|NDUFB10_ENST00000268668.6_Missense_Mutation_p.D75E O96000 NDUBA_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa 75 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity|protein binding lung(1)|urinary_tract(1) 2 NADH(DB00157) AGGAGGAGGACATCATGTGCA 0.532000 37 98 0 0 1 0 0 SLC9A3 6550 broad.mit.edu 37 5 482257 482257 + Missense_Mutation SNP G G T TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr5:482257G>T ENST00000264938.3 - 8 1381 c.1372C>A c.(1372-1374)Cct>Act p.P458T SLC9A3_ENST00000514375.1_Intron NM_004174.2 NP_004165.2 P48764 SL9A3_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 458 cell surface|integral to membrane sodium:hydrogen antiporter activity NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) TGCACCAGAGGCTTGATGGTC 0.692000 17 32 1.15919e-05 1.27065e-05 1 1 0 RNF6 6049 broad.mit.edu 37 13 26789603 26789603 + Missense_Mutation SNP C C T TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr13:26789603C>T ENST00000381588.4 - 5 1168 c.416G>A c.(415-417)cGa>cAa p.R139Q RNF6_ENST00000346166.3_Missense_Mutation_p.R139Q|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000399762.2_Intron|RNF6_ENST00000381570.3_Missense_Mutation_p.R139Q NM_005977.3 NP_005968.1 Q9Y252 RNF6_HUMAN ring finger protein (C3H2C3 type) 6 139 negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process axon|cytoplasm|PML body androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2) 23 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245) CGGGTTTGTTCGACTCACAGC 0.403000 6 91 0 0 1 0 0 ANKRD6 22881 broad.mit.edu 37 6 90340367 90340367 + Missense_Mutation SNP G G C TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr6:90340367G>C ENST00000369408.5 + 15 2072 c.1723G>C c.(1723-1725)Gct>Cct p.A575P ANKRD6_ENST00000339746.4_Missense_Mutation_p.A610P|LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000447838.2_Missense_Mutation_p.A605P|ANKRD6_ENST00000522441.1_Missense_Mutation_p.A610P|ANKRD6_ENST00000520793.1_Missense_Mutation_p.A546P NM_001242813.1 NP_001229742.1 Q9Y2G4 ANKR6_HUMAN ankyrin repeat domain 6 610 protein binding NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2) 21 all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239) BRCA - Breast invasive adenocarcinoma(108;0.0209) TGATCAGCAGGCTGGGCCCTG 0.582000 9 29 0 0 1 0 0 KCNA3 3738 broad.mit.edu 37 1 111216384 111216384 + Nonsense_Mutation SNP G G A TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr1:111216384G>A ENST00000369769.2 - 1 1271 c.1048C>T c.(1048-1050)Cga>Tga p.R350* NM_002232.3 NP_002223.3 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 3 350 voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1) 38 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) TTGCCCTGTCGTTCGGCCAGC 0.547000 53 117 0 0 1 0 0 TROVE2 6738 broad.mit.edu 37 1 193046080 193046080 + Missense_Mutation SNP A A G TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr1:193046080A>G ENST00000432079.1 + 4 729 c.161A>G c.(160-162)gAa>gGa p.E54G TROVE2_ENST00000367441.1_Missense_Mutation_p.E329G|TROVE2_ENST00000367446.3_Missense_Mutation_p.E329G|TROVE2_ENST00000367445.3_Missense_Mutation_p.E329G|TROVE2_ENST00000367443.1_Missense_Mutation_p.E329G|TROVE2_ENST00000367444.3_Missense_Mutation_p.E329G|TROVE2_ENST00000416058.2_Missense_Mutation_p.E54G|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000400968.2_Missense_Mutation_p.E329G P10155 RO60_HUMAN TROVE domain family, member 2 329 TROVE. transcription from RNA polymerase III promoter cytoplasm|nucleus|ribonucleoprotein complex protein binding|RNA binding biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1) 21 ATCGCATTAGAAACTTACAAG 0.338000 10 22 0 0 1 0 0 PRELID1 27166 broad.mit.edu 37 5 176731691 176731691 + Missense_Mutation SNP G G A TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr5:176731691G>A ENST00000303204.4 + 2 370 c.158G>A c.(157-159)cGg>cAg p.R53Q PRELID1_ENST00000502670.1_3'UTR|PRELID1_ENST00000503216.1_Missense_Mutation_p.R53Q Q9Y255 PRLD1_HUMAN PRELI domain containing 1 53 PRELI/MSF1. immune response|multicellular organismal development mitochondrion|nucleus endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1) 7 all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTGCTGTCCCGGCGACTCCTG 0.567000 12 42 0 0 1 0 0 TEKT1 83659 broad.mit.edu 37 17 6733629 6733629 + Missense_Mutation SNP G G T TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr17:6733629G>T ENST00000338694.2 - 2 196 c.67C>A c.(67-69)Cag>Aag p.Q23K TEKT1_ENST00000535086.1_5'UTR NM_053285.1 NP_444515.1 Q969V4 TEKT1_HUMAN tektin 1 23 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) CTGTGGTACTGGTTCTTGTTA 0.468000 10 40 0.000442599 0.000458694 1 1 0 FARSB 10056 broad.mit.edu 37 2 223499164 223499164 + Silent SNP C C T TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr2:223499164C>T ENST00000281828.6 - 6 815 c.552G>A c.(550-552)aaG>aaA p.K184K FARSB_ENST00000536361.1_Silent_p.K85K NM_005687.3 NP_005678.3 Q9NSD9 SYFB_HUMAN phenylalanyl-tRNA synthetase, beta subunit 184 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Renal(207;0.0183) Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011) L-Phenylalanine(DB00120) TATTTAGAGGCTTGAATTTGA 0.383000 17 62 0 0 1 0 0 PDE6B 5158 broad.mit.edu 37 4 619651 619651 + Missense_Mutation SNP T T C TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr4:619651T>C ENST00000255622.6 + 1 279 c.236T>C c.(235-237)gTc>gCc p.V79A PDE6B_ENST00000496514.1_Missense_Mutation_p.V79A NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 79 GAF 1. cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 GTCTTCAAGGTCCTGCGGCGC 0.662000 8 19 0 0 1 0 0 KCNK9 51305 broad.mit.edu 37 8 140715136 140715136 + Missense_Mutation SNP C C T TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr8:140715136C>T ENST00000520439.1 - 1 163 c.100G>A c.(100-102)Gag>Aag p.E34K KCNK9_ENST00000303015.1_Missense_Mutation_p.E34K Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 34 integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1) 43 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) TCGCGCATCTCGTGGTCCGAC 0.607000 6 33 0 0 1 0 0 KDM3B 51780 broad.mit.edu 37 5 137721936 137721936 + Missense_Mutation SNP G G T TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr5:137721936G>T ENST00000314358.5 + 7 1206 c.1006G>T c.(1006-1008)Gat>Tat p.D336Y KDM3B_ENST00000394866.1_Intron NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 336 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 GCCAGGGCTGGATCAGAGAGC 0.552000 52 194 3.68337e-26 4.28474e-26 1 1 0 RAP1GAP 5909 broad.mit.edu 37 1 21926096 21926096 + Missense_Mutation SNP G G C TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr1:21926096G>C ENST00000542643.2 - 23 2047 c.1745C>G c.(1744-1746)gCg>gGg p.A582G RAP1GAP_ENST00000374761.2_Missense_Mutation_p.A587G|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.A641G|RAP1GAP_ENST00000374765.4_Missense_Mutation_p.A556G|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.A620G NM_001145657.1 NP_001139129.1 P47736 RPGP1_HUMAN RAP1 GTPase activating protein 556 regulation of Ras GTPase activity|signal transduction cytosol|Golgi membrane|membrane fraction GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 17 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) TGCTCTCTGCGCTGCGGTCTC 0.687000 19 47 0 0 1 0 0 OR5P3 120066 broad.mit.edu 37 11 7846675 7846675 + Missense_Mutation SNP A A G TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr11:7846675A>G ENST00000328375.1 - 1 844 c.845T>C c.(844-846)aTt>aCt p.I282T RP11-35J10.5_ENST00000527565.1_lincRNA NM_153445.1 NP_703146.1 Q8WZ94 OR5P3_HUMAN olfactory receptor, family 5, subfamily P, member 3 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1) 15 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CAACATGGGAATCACCACGGT 0.443000 20 50 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 4 67 0 0 1 0 0 SERPINB1 1992 broad.mit.edu 37 6 2834226 2834226 + Missense_Mutation SNP C C G TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr6:2834226C>G ENST00000380739.5 - 7 958 c.756G>C c.(754-756)ttG>ttC p.L252F SERPINB1_ENST00000537185.1_Missense_Mutation_p.L101F P30740 ILEU_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 1 252 regulation of proteolysis cytoplasm|extracellular space serine-type endopeptidase inhibitor activity breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2) 13 Ovarian(93;0.0412) OV - Ovarian serous cystadenocarcinoma(45;0.0717) GCAACTTTTCCAAAGTCAACT 0.363000 9 45 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21078692 21078692 + Missense_Mutation SNP C C T TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr16:21078692C>T ENST00000261383.3 - 24 3429 c.3430G>A c.(3430-3432)Gag>Aag p.E1144K DNAH3_ENST00000415178.1_Missense_Mutation_p.E1144K NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1144 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.E1144K(2) NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TGAAGCTTCTCTGCCATCCGT 0.468000 4 99 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803302 142803302 + RNA DEL C C - rs79529551 TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr1:142803302delC ENST00000423385.1 - 0 1663 acaacaacaacaaACAGGATG 0.388 2 4 --- --- --- --- GON4L 54856 broad.mit.edu 37 1 155734751 155734751 + Frame_Shift_Del DEL T T - TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr1:155734751delT ENST00000361040.5 - 21 4584 c.4513delA c.(4513-4515)gtfs p.S1505fs GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Intron|GON4L_ENST00000437809.1_Intron|GON4L_ENST00000271883.5_Intron NM_032292.4 NP_115668.4 Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 0 Glu-rich. regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) TACATATTACTGAGTCCACGA 0.398 27 60 --- --- --- --- AC018890.6 0 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 9 --- --- --- --- FOXP1 27086 broad.mit.edu 37 3 71050125 71050126 + In_Frame_Ins INS - - TAGCTC TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr3:71050125_71050126insTAGCTC ENST00000318789.4 - 13 1584_1585 c.1059_1060insGAGCTA c.(1057-1062)ctagct>ctGAGCTAagct p.353_354LA>LS*A FOXP1_ENST00000498215.1_In_Frame_Ins_p.353_354LA>LS*A|FOXP1_ENST00000468577.1_In_Frame_Ins_p.353_354LA>LS*A|FOXP1_ENST00000475937.1_In_Frame_Ins_p.353_354LA>LS*A|FOXP1_ENST00000493089.1_In_Frame_Ins_p.353_354LA>LS*A|FOXP1_ENST00000484350.1_In_Frame_Ins_p.277_278LA>LS*A|FOXP1_ENST00000491238.1_In_Frame_Ins_p.355_356LA>LS*A NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 353 Leucine-zipper. cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) GGTTTTACCTGTAGCTCTAACT 0.381 T PAX5 ALL 12 54 --- --- --- --- WDR1 9948 broad.mit.edu 37 4 10089926 10089927 + Frame_Shift_Del DEL CC CC - TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr4:10089926_10089927delCC ENST00000382452.2 - 7 989_990 c.707_708delGG c.(706-708)gfs p.G236fs WDR1_ENST00000382451.2_Frame_Shift_Del_p.G96fs|WDR1_ENST00000502702.1_Frame_Shift_Del_p.G96fs|WDR1_ENST00000499869.2_Frame_Shift_Del_p.G236fs|WDR1_ENST00000515743.1_5'UTR NM_017491.3 NP_059830.1 O75083 WDR1_HUMAN WD repeat domain 1 236 platelet activation|platelet degranulation|sensory perception of sound cytoskeleton|cytosol|extracellular region actin binding endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1) 12 STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232) CTGCGTAAATCCCACCGTCGTG 0.530 2 4 --- --- --- --- REV3L 5980 broad.mit.edu 37 6 111685156 111685156 + Frame_Shift_Del DEL G G - TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr6:111685156delG ENST00000435970.1 - 18 7361 c.6545delC c.(6544-6546)cafs p.P2182fs REV3L_ENST00000368802.3_Frame_Shift_Del_p.P2260fs|REV3L_ENST00000368805.1_Frame_Shift_Del_p.P2260fs|REV3L_ENST00000358835.3_Frame_Shift_Del_p.P2260fs O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 2260 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) TTCTTTCTGTGGGGTATTTAC 0.338 DNA polymerases (catalytic subunits) 33 71 --- --- --- --- LILRB1 0 broad.mit.edu 37 19 55146148 55146150 + In_Frame_Del DEL CTC CTC - TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr19:55146148_55146150delCTC ENST00000396331.1 + 11 1774_1776 c.1417_1419delCTC c.(1417-1419)del p.L479del LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 479 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CAtcctactgctcctcctcctcc 0.581 HNSCC(37;0.09) 8 101 --- --- --- --- CBS 875 broad.mit.edu 37 21 44476945 44476945 + Frame_Shift_Del DEL T T - TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 046c8e49-c295-4b2f-ad1a-da6cb0958544 5318522e-d56a-4eb2-88ae-b76fcf183a78 g.chr21:44476945delT ENST00000398165.3 - 16 1779 c.1520delA c.(1519-1521)ccfs p.H507fs CBS_ENST00000544202.1_Frame_Shift_Del_p.H419fs|CBS_ENST00000398168.1_Frame_Shift_Del_p.H507fs|CBS_ENST00000398158.1_Frame_Shift_Del_p.H507fs|CBS_ENST00000359624.3_Frame_Shift_Del_p.H507fs|CBS_ENST00000352178.5_Frame_Shift_Del_p.H507fs NM_000071.2 NP_000062.1 P35520 CBS_HUMAN cystathionine-beta-synthase 507 cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process cytosol|nucleolus cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8) 17 L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118) CAGGGCGAAGTGGTCCATCTC 0.652 2 4 --- --- --- ---