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 MT-ND5 4540 broad.mit.edu 37 MT 13336 13336 + Missense_Mutation SNP T T C TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chrM:13336T>C ENST00000361567.2 + 1 1000 c.1000T>C c.(1000-1002)Ttc>Ctc p.F334L P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 334 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) GTACCCACGCCTTCTTCAAAG 0.423000 25 67 0 0 1 0 0 FUCA1 2517 broad.mit.edu 37 1 24186288 24186288 + Splice_Site SNP C C T TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr1:24186288C>T ENST00000374479.3 - 4 775 c.768_splice c.e4+1 p.K256_splice NM_000147.4 NP_000138.2 P04066 FUCO_HUMAN fucosidase, alpha-L- 1, tissue 256 fucose metabolic process|glycosaminoglycan catabolic process lysosome alpha-L-fucosidase activity|cation binding breast(1)|endometrium(1)|large_intestine(3)|lung(3) 8 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144) AATCACATACCTTGACAGGGC 0.413000 8 27 0 0 1 0 0 HIATL1 84641 broad.mit.edu 37 9 97218544 97218544 + Missense_Mutation SNP G G A TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr9:97218544G>A ENST00000375344.3 + 10 1320 c.1051G>A c.(1051-1053)Gtg>Atg p.V351M HIATL1_ENST00000428393.2_Intron NM_032558.2 NP_115947.2 Q5SR56 HIAL1_HUMAN hippocampus abundant transcript-like 1 351 transmembrane transport integral to membrane|plasma membrane protein binding|transporter activity endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1) 11 Acute lymphoblastic leukemia(62;0.136) AGCAGGGACCGTGGCTGCCAT 0.562000 29 25 0 0 1 0 0 TAZ 6901 broad.mit.edu 37 X 153649045 153649045 + Missense_Mutation SNP G G C TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chrX:153649045G>C ENST00000299328.5 + 10 1037 c.748G>C c.(748-750)Gag>Cag p.E250Q TAZ_ENST00000351413.4_Missense_Mutation_p.E236Q|TAZ_ENST00000369790.4_Missense_Mutation_p.E206Q|TAZ_ENST00000350743.4_Missense_Mutation_p.E220Q|TAZ_ENST00000369776.4_Missense_Mutation_p.E220Q|TAZ_ENST00000498029.1_3'UTR NM_000116.3 NP_000107.1 Q16635 TAZ_HUMAN tafazzin 250 cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development integral to membrane|mitochondrion 1-acylglycerophosphocholine O-acyltransferase activity lung(1) 1 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCCTGTACTCGAGCGGCTCCG 0.647000 20 81 0 0 1 0 0 DNASE1 1773 broad.mit.edu 37 16 3707025 3707025 + Silent SNP C C T TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr16:3707025C>T ENST00000246949.5 + 6 3671 c.462C>T c.(460-462)ccC>ccT p.P154P DNASE1_ENST00000414110.2_Intron|DNASE1_ENST00000407479.1_Silent_p.P154P NM_005223.3 NP_005214.2 P24855 DNAS1_HUMAN deoxyribonuclease I 154 P -> A (in allele DNASE1*3; dbSNP:rs1799891). apoptosis|DNA catabolic process extracellular region|nuclear envelope actin binding|deoxyribonuclease I activity lung(1) 1 Ovarian(90;0.0261) Kidney(780;0.0556) Dornase Alfa(DB00003) CCATTGTTCCCCTGCATGCGG 0.602000 6 33 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38738892 38738892 + Missense_Mutation SNP A A G TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr3:38738892A>G ENST00000449082.2 - 27 5818 c.5819T>C c.(5818-5820)aTa>aCa p.I1940T NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1940 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TTCATTTTGTATTGAGCTAGA 0.478000 24 64 0 0 1 0 0 SHROOM4 57477 broad.mit.edu 37 X 50351176 50351176 + Missense_Mutation SNP G G A rs149034742 TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chrX:50351176G>A ENST00000376020.2 - 6 2991 c.2966C>T c.(2965-2967)gCt>gTt p.A989V SHROOM4_ENST00000289292.7_Missense_Mutation_p.A989V|SHROOM4_ENST00000460112.3_Missense_Mutation_p.A873V NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 989 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) CTTGGAATGAGCCATTTCCCT 0.408000 10 13 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179478877 179478877 + Missense_Mutation SNP A A T TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr2:179478877A>T ENST00000589042.1 - 262 49471 c.49247T>A c.(49246-49248)aTc>aAc p.I16416N TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I13848N|TTN_ENST00000342175.6_Missense_Mutation_p.I7543N|TTN_ENST00000591111.1_Missense_Mutation_p.I14775N|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I7476N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I7351N|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14775 Ig-like 100. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTATTGGGGATTAATTTGGT 0.433000 8 8 0 0 1 0 0 CHD2 1106 broad.mit.edu 37 15 93524635 93524635 + Missense_Mutation SNP G G T TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr15:93524635G>T ENST00000394196.4 + 24 4082 c.3014G>T c.(3013-3015)aGa>aTa p.R1005I CHD2_ENST00000557381.1_Missense_Mutation_p.R1005I NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1005 Glu-rich. regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) GCTGAAACGAGAGAGAATGAA 0.373000 3 10 1 1 1 1 0 C2orf16 84226 broad.mit.edu 37 2 27799908 27799908 + Missense_Mutation SNP G G A TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr2:27799908G>A ENST00000408964.2 + 1 520 c.469G>A c.(469-471)Gcc>Acc p.A157T NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 157 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) AATTTATCACGCCACAGAATC 0.403000 14 63 0 0 1 0 0 PCDHB11 0 broad.mit.edu 37 5 140580929 140580929 + Missense_Mutation SNP G G T TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr5:140580929G>T ENST00000354757.3 + 1 1582 c.1582G>T c.(1582-1584)Gac>Tac p.D528Y PCDHB11_ENST00000536699.1_Missense_Mutation_p.D163Y NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 528 Cadherin 5. D -> E (in dbSNP:rs799834). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCAGGCTTTCGACTTCCGCGT 0.677000 6 198 1.12685e-05 1.17926e-05 1 1 0 FAM188B 84182 broad.mit.edu 37 7 30921881 30921881 + Missense_Mutation SNP C C T TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr7:30921881C>T ENST00000265299.6 + 16 2134 c.2057C>T c.(2056-2058)cCg>cTg p.P686L INMT-FAM188B_ENST00000458257.1_3'UTR|AQP1_ENST00000509504.1_Missense_Mutation_p.P149L|AQP1_ENST00000434909.2_Missense_Mutation_p.P32L NM_032222.2 NP_115598.2 Q4G0A6 F188B_HUMAN family with sequence similarity 188, member B 686 endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AGCCTGCAGCCGGGGCTCCTG 0.592000 33 40 0 0 1 0 0 PPP2R1A 5518 broad.mit.edu 37 19 52716212 52716212 + Missense_Mutation SNP C C T TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr19:52716212C>T ENST00000322088.6 + 6 714 c.656C>T c.(655-657)tCg>tTg p.S219L PPP2R1A_ENST00000462990.1_Missense_Mutation_p.S40L|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.S164L NM_014225.5 NP_055040.2 P30153 2AAA_HUMAN protein phosphatase 2, regulatory subunit A, alpha 219 PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 135 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) CCCTAGGACTCGGTGCGGCTG 0.647000 Mis clear cell ovarian carcinoma 130 38 0 0 1 0 0 PCDHB10 0 broad.mit.edu 37 5 140573707 140573707 + Nonsense_Mutation SNP G G T rs17844576 TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr5:140573707G>T ENST00000239446.4 + 1 1766 c.1582G>T c.(1582-1584)Gag>Tag p.E528* NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 528 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCAGGCTTTCGAGTTCCGCGT 0.692000 21 328 1.55795e-14 1.75269e-14 1 1 0 RASGRP4 115727 broad.mit.edu 37 19 38910572 38910572 + Missense_Mutation SNP G G T TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr19:38910572G>T ENST00000454404.2 - 6 804 c.591C>A c.(589-591)ttC>ttA p.F197L RASGRP4_ENST00000587753.1_Missense_Mutation_p.F197L|RASGRP4_ENST00000426920.2_Missense_Mutation_p.F197L|RASGRP4_ENST00000293062.9_Missense_Mutation_p.F197L|RASGRP4_ENST00000433821.2_Missense_Mutation_p.F197L|RASGRP4_ENST00000587738.1_Missense_Mutation_p.F197L|RASGRP4_ENST00000586305.1_Missense_Mutation_p.F183L NM_001146205.1|NM_170604.2 NP_001139677.1|NP_733749.1 Q8TDF6 GRP4_HUMAN RAS guanyl releasing protein 4 197 activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|membrane fraction|plasma membrane|soluble fraction diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1) 23 all_cancers(60;4.21e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CCAAGTGGTCGAAAAGCAAGG 0.652000 6 131 0.00116845 0.001195 1 1 0 NEDD9 4739 broad.mit.edu 37 6 11201242 11201242 + Missense_Mutation SNP A A T TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr6:11201242A>T ENST00000379433.5 - 3 639 c.497T>A c.(496-498)gTg>gAg p.V166E NEDD9_ENST00000379446.5_Intron|NEDD9_ENST00000504387.1_Intron|RP3-510L9.1_ENST00000500636.2_RNA NM_182966.3 NP_892011.2 Q14511 CASL_HUMAN neural precursor cell expressed, developmentally down-regulated 9 0 Interacts strongly with spindle- regulatory protein D1M1. actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) AGAGGCTCTCACTAAGAAATA 0.428000 4 102 0 0 1 0 0 CTBP2 1488 broad.mit.edu 37 10 126692042 126692042 + Missense_Mutation SNP C C T TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr10:126692042C>T ENST00000309035.6 - 2 1828 c.1698G>A c.(1696-1698)atG>atA p.M566I CTBP2_ENST00000411419.2_Missense_Mutation_p.M26I|CTBP2_ENST00000337195.5_Missense_Mutation_p.M26I|CTBP2_ENST00000334808.6_Missense_Mutation_p.M94I|CTBP2_ENST00000531469.1_Missense_Mutation_p.M26I|CTBP2_ENST00000494626.2_Missense_Mutation_p.M26I NM_022802.2 NP_073713.2 P56545 CTBP2_HUMAN C-terminal binding protein 2 26 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) GGGGGCCGTTCATGATCTGGG 0.687000 9 14 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 4 53 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18023599 18023599 + Silent SNP G G A TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr17:18023599G>A ENST00000205890.5 + 2 1823 c.1485G>A c.(1483-1485)gtG>gtA p.V495V NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 495 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) AGCTGGAGGTGCCCCTGCCAC 0.642000 34 8 0 0 1 0 0 ZC3H12B 340554 broad.mit.edu 37 X 64719785 64719785 + Silent SNP T T C TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chrX:64719785T>C ENST00000338957.4 + 4 1073 c.1006T>C c.(1006-1008)Tta>Cta p.L336L ZC3H12B_ENST00000423889.3_Silent_p.L325L NM_001010888.3 NP_001010888.3 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 325 endonuclease activity|nucleic acid binding|zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AGATGATCCATTAGGACGCCA 0.438000 62 87 0 0 1 0 0 SLC1A3 6507 broad.mit.edu 37 5 36686177 36686177 + Missense_Mutation SNP C C T TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr5:36686177C>T ENST00000265113.4 + 10 1911 c.1435C>T c.(1435-1437)Cgg>Tgg p.R479W SLC1A3_ENST00000381918.3_Missense_Mutation_p.R434W|CTD-2353F22.1_ENST00000510740.1_RNA NM_004172.4 NP_004163.3 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 3 479 D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1) 41 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) GGATCGCCTCCGGACCACCAC 0.552000 30 85 0 0 1 0 0 CHD2 1106 broad.mit.edu 37 15 93524636 93524636 + Missense_Mutation SNP A A T TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr15:93524636A>T ENST00000394196.4 + 24 4083 c.3015A>T c.(3013-3015)agA>agT p.R1005S CHD2_ENST00000557381.1_Missense_Mutation_p.R1005S NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1005 Glu-rich. regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) CTGAAACGAGAGAGAATGAAG 0.368000 3 11 0 0 1 0 0 NCF1 653361 broad.mit.edu 37 7 74197924 74197924 + Missense_Mutation SNP G G C TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr7:74197924G>C ENST00000289473.4 + 7 701 c.631G>C c.(631-633)Gag>Cag p.E211Q NCF1_ENST00000443956.3_3'UTR NM_000265.4 NP_000256.3 P14598 NCF1_HUMAN neutrophil cytosolic factor 1 211 Asp/Glu-rich (highly acidic).|SH3 1. cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation cytosol|NADPH oxidase complex|soluble fraction electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3) 10 GTCCTTCCTCGAGCCCCTGGA 0.637000 15 55 0 0 1 0 0 IDH3G 3421 broad.mit.edu 37 X 153051890 153051890 + Silent SNP G G A TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chrX:153051890G>A ENST00000370092.3 - 11 1124 c.939C>T c.(937-939)acC>acT p.T313T IDH3G_ENST00000370093.1_Silent_p.T313T|IDH3G_ENST00000427365.2_Silent_p.T255T|IDH3G_ENST00000217901.5_Silent_p.T313T NM_174869.2 NP_777358.1 P51553 IDH3G_HUMAN isocitrate dehydrogenase 3 (NAD+) gamma 313 carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleolus ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1) 17 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) NADH(DB00157) TACTCTTGCCGGTGTTCCTCG 0.612000 6 6 0 0 1 0 0 HEATR5A 25938 broad.mit.edu 37 14 31817004 31817004 + Missense_Mutation SNP T T C TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr14:31817004T>C ENST00000543095.2 - 19 3002 c.2818A>G c.(2818-2820)Att>Gtt p.I940V HEATR5A_ENST00000389961.3_Missense_Mutation_p.I934V|HEATR5A_ENST00000439348.1_Missense_Mutation_p.I934V|HEATR5A_ENST00000404677.3_Missense_Mutation_p.I940V|HEATR5A_ENST00000439727.1_Missense_Mutation_p.I647V NM_015473.3 NP_056288.2 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 934 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1) 26 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) AGGATTCCAATACAAGAATTT 0.428000 10 7 0 0 1 0 0 TSEN2 80746 broad.mit.edu 37 3 12531437 12531437 + Silent SNP C C T TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr3:12531437C>T ENST00000444864.1 + 2 525 c.138C>T c.(136-138)aaC>aaT p.N46N TSEN2_ENST00000415684.1_Silent_p.N46N|TSEN2_ENST00000402228.3_Silent_p.N46N|TSEN2_ENST00000314571.7_Silent_p.N46N|TSEN2_ENST00000284995.6_Silent_p.N46N|TSEN2_ENST00000454502.2_Silent_p.N46N|TSEN2_ENST00000383797.5_Silent_p.N46N NM_001145395.1 NP_001138867.1 Q8NCE0 SEN2_HUMAN TSEN2 tRNA splicing endonuclease subunit 46 mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation cytoplasm|nucleolus|tRNA-intron endonuclease complex nucleic acid binding|tRNA-intron endonuclease activity central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7) 19 AAATGATTAACAACAATGTGA 0.443000 39 52 0 0 1 0 0 SYNJ1 8867 broad.mit.edu 37 21 34053869 34053869 + Silent SNP G G A TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr21:34053869G>A ENST00000382499.2 - 11 1406 c.1407C>T c.(1405-1407)tcC>tcT p.S469S SYNJ1_ENST00000322229.7_Silent_p.S430S|SYNJ1_ENST00000433931.2_Silent_p.S469S|SYNJ1_ENST00000382491.3_Silent_p.S430S|SYNJ1_ENST00000357345.3_Silent_p.S430S NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 430 inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding p.S430S(1) breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 CACCATTCACGGACCACATTG 0.398000 22 60 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661362 22661362 + RNA SNP C C T TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr22:22661362C>T ENST00000426066.1 + 0 360 NR_027293.1 TGGGCAACAGCGAGGGAAATG 0.502000 3 31 0 0 1 0 0 TIGIT 201633 broad.mit.edu 37 3 114014628 114014628 + Missense_Mutation SNP G G A TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr3:114014628G>A ENST00000481065.1 + 3 3114 c.499G>A c.(499-501)Gtg>Atg p.V167M TIGIT_ENST00000383671.3_Missense_Mutation_p.V100M|TIGIT_ENST00000486257.1_Missense_Mutation_p.V100M Q495A1 TIGIT_HUMAN T cell immunoreceptor with Ig and ITIM domains 100 negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production cell surface|integral to membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1) 17 GTCGCTGACCGTGAACGATAC 0.567000 42 49 0 0 1 0 0 FTSJ2 29960 broad.mit.edu 37 7 2274828 2274828 + Missense_Mutation SNP T T C TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr7:2274828T>C ENST00000242257.8 - 3 698 c.670A>G c.(670-672)Agg>Ggg p.R224G FTSJ2_ENST00000440306.2_3'UTR|FTSJ2_ENST00000407040.1_Missense_Mutation_p.R130G|FTSJ2_ENST00000486040.1_5'UTR NM_013393.1 NP_037525.1 Q9UI43 RRMJ2_HUMAN FtsJ RNA methyltransferase homolog 2 (E. coli) 224 cell proliferation mitochondrion|nucleolus nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14) GACTCTTTCCTGCTGGCTTCA 0.468000 34 63 0 0 1 0 0 SLC10A3 8273 broad.mit.edu 37 X 153716854 153716854 + Silent SNP C C T TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chrX:153716854C>T ENST00000263512.4 - 2 924 c.426G>A c.(424-426)ctG>ctA p.L142L SLC10A3_ENST00000393587.4_Silent_p.L142L|SLC10A3_ENST00000393586.1_Silent_p.L197L|SLC10A3_ENST00000369649.4_Intron NM_019848.3 NP_062822.1 P09131 P3_HUMAN solute carrier family 10, member 3 142 organic anion transport integral to membrane bile acid:sodium symporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GGAGTGGGGCCAGCCCAGCCA 0.612000 43 70 0 0 1 0 0 ZNF573 126231 broad.mit.edu 37 19 38230644 38230644 + Silent SNP C C T TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr19:38230644C>T ENST00000339503.4 - 8 1074 c.573G>A c.(571-573)caG>caA p.Q191Q ZNF573_ENST00000392138.1_Silent_p.Q162Q|ZNF573_ENST00000590414.2_Silent_p.Q249Q|ZNF573_ENST00000357309.3_Silent_p.Q161Q|ZNF573_ENST00000536220.1_Silent_p.Q161Q NM_152360.3 NP_689573.3 Q86YE8 ZN573_HUMAN zinc finger protein 573 229 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146) TCCCACACTCCTGACATTCAT 0.428000 37 371 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130284093 130284093 + Missense_Mutation SNP C C T TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr3:130284093C>T ENST00000358511.6 + 3 948 c.917C>T c.(916-918)gCc>gTc p.A306V COL6A6_ENST00000453409.2_Missense_Mutation_p.A306V NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 306 Nonhelical region.|VWFA 2. axon guidance|cell adhesion collagen p.A306D(1) NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 ACTGGGAAGGCCTATACTGGA 0.478000 49 69 0 0 1 0 0 OCM2 4951 broad.mit.edu 37 7 97617777 97617777 + Missense_Mutation SNP G G A TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr7:97617777G>A ENST00000257627.4 - 2 236 c.145C>T c.(145-147)Cgg>Tgg p.R49W OCM2_ENST00000473987.2_5'UTR NM_006188.3 NP_006179.2 P0CE71 OCM2_HUMAN oncomodulin 2 49 EF-hand 1. calcium ion binding lung(4) 4 TCTATGAACCGGAAAACATCC 0.507000 36 62 0 0 1 0 0 FBXW7 0 broad.mit.edu 37 4 153247288 153247288 + Missense_Mutation SNP C C A TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr4:153247288C>A ENST00000281708.4 - 10 2743 c.1514G>T c.(1513-1515)cGc>cTc p.R505L FBXW7_ENST00000603548.1_Missense_Mutation_p.R505L|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505L|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329L|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425L|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387L NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 505 R -> L (in an ovarian cancer cell line). interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.R505L(7)|p.R505H(5)|p.R266L(1)|p.R266H(1)|p.?(1)|p.R505P(1)|p.R425H(1)|p.R425L(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TTGAACACAGCGGACTGCTGC 0.468000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 17 47 4.14922e-12 4.55402e-12 1 1 0 SCML2 10389 broad.mit.edu 37 X 18338512 18338512 + Silent SNP C C A TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chrX:18338512C>A ENST00000251900.4 - 6 585 c.426G>T c.(424-426)ccG>ccT p.P142P NM_006089.2 NP_006080.1 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 (Drosophila) 142 anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 36 Hepatocellular(33;0.183) AGAGGAACATCGGCCAGGAGG 0.333000 7 15 5.18039e-06 5.55042e-06 1 1 0 CACNA1A 773 broad.mit.edu 37 19 13338336 13338336 + Missense_Mutation SNP C C T TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr19:13338336C>T ENST00000360228.5 - 37 5533 c.5534G>A c.(5533-5535)cGc>cAc p.R1845H CACNA1A_ENST00000573710.2_Intron NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1846 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GTAAGGCATGCGGCCCCTGGC 0.493000 4 64 0 0 1 0 0 NFATC3 4775 broad.mit.edu 37 16 68200785 68200785 + Silent SNP T T C TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr16:68200785T>C ENST00000349223.5 + 5 1865 c.1641T>C c.(1639-1641)gaT>gaC p.D547D NFATC3_ENST00000575270.1_Silent_p.D547D|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Silent_p.D547D|NFATC3_ENST00000329524.4_Silent_p.D547D NM_173163.2 NP_775186.1 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 547 RHD. inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 44 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) GCAATTCAGATATAGAACTTC 0.333000 13 20 0 0 1 0 0 SNHG14 0 broad.mit.edu 37 15 25328812 25328812 + RNA SNP G G A TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr15:25328812G>A ENST00000546682.1 + 0 320 SNHG14_ENST00000549804.2_RNA|SNORD116-17_ENST00000383929.1_RNA NR_003361.1 CGTCATCCTCGTCGAACTGAG 0.443000 57 58 0 0 1 0 0 SLC25A13 10165 broad.mit.edu 37 7 95775911 95775911 + Missense_Mutation SNP G G A TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr7:95775911G>A ENST00000416240.2 - 14 1602 c.1412C>T c.(1411-1413)gCt>gTt p.A471V SLC25A13_ENST00000542654.1_Missense_Mutation_p.A362V|SLC25A13_ENST00000265631.5_Missense_Mutation_p.A470V NM_001160210.1|NM_014251.2 NP_001153682.1|NP_055066.1 Q9UJS0 CMC2_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 13 470 ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to plasma membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4) 42 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) GACAGACAGAGCACTGACTCG 0.433000 73 129 0 0 1 0 0 CKMT1B 1159 broad.mit.edu 37 15 43891378 43891378 + Silent SNP C C T TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr15:43891378C>T ENST00000300283.6 + 10 1553 c.1161C>T c.(1159-1161)atC>atT p.I387I CKMT1B_ENST00000441322.1_Silent_p.I387I NM_020990.3 NP_066270.1 P12532 KCRU_HUMAN creatine kinase, mitochondrial 1B 387 Phosphagen kinase C-terminal. creatine metabolic process mitochondrial inner membrane ATP binding|creatine kinase activity large_intestine(1)|lung(3)|skin(1) 5 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) Creatine(DB00148) AACTGGTCATCGATGGAGTAA 0.473000 74 66 0 0 1 0 0 PIK3R1 5295 broad.mit.edu 37 5 67589579 67589596 + In_Frame_Del DEL AAATTACATGAATATAAC AAATTACATGAATATAAC - rs17852841 TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr5:67589579_67589596delAAATTACATGAATATAAC ENST00000521381.1 + 11 1958_1975 c.1342_1359delAAATTACATGAATATAAC c.(1342-1359)del p.KLHEYN448del PIK3R1_ENST00000523872.1_In_Frame_Del_p.KLHEYN85del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.KLHEYN448del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.KLHEYN178del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.KLHEYN448del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.KLHEYN448del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.KLHEYN148del NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 448 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.N453_T454insN(3)|p.H450_E451del(2)|p.L449fs*3(1)|p.Y152N(1)|p.T454_D464del(1)|p.Y452_Q455>SGGSRIK(1)|p.L449S(1)|p.?(1)|p.G446_Y452>VI(1)|p.Y452N(1)|p.T454_Q455>Q(1)|p.E451_Y452del(1)|p.E451_Y452delEY(1)|p.K448_L449>I(1)|p.Y182N(1)|p.453_454insN(1)|p.0?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) TGTAGGGAAAAAATTACATGAATATAACACTCAGTTTC 0.266 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 8 25 --- --- --- --- HLA-V 0 broad.mit.edu 37 6 29760353 29760373 + RNA DEL GCGGGCGCCGTGGATGGAGCA GCGGGCGCCGTGGATGGAGCA - rs74661005 by1000genomes TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA ENST00000457107.1 + 0 223_243 GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG 0.674 5 5 --- --- --- --- IGSF6 10261 broad.mit.edu 37 16 21658474 21658476 + In_Frame_Del DEL CCT CCT - TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr16:21658474_21658476delCCT ENST00000268389.4 - 2 466_468 c.405_407delAGG c.(403-408)ggg>gg p.GG135del METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron NM_005849.3 NP_005840.2 O95976 IGSF6_HUMAN immunoglobulin superfamily, member 6 135 cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1) 7 GBM - Glioblastoma multiforme(48;0.066) CAGTGTGGTCCCTCCTCCTGTCT 0.468 36 77 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578402 7578403 + Frame_Shift_Ins INS - - T TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr17:7578402_7578403insT ENST00000420246.2 - 5 659_660 c.527_528insA c.(526-528)tccfs p.S176fs TP53_ENST00000445888.2_Frame_Shift_Ins_p.S176fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.S176fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.S176fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.S176fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Frame_Shift_Ins_p.S176fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 176 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C176F(129)|p.C176Y(63)|p.C176*(12)|p.C176W(11)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.H178fs*69(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.C83*(2)|p.V173fs*59(2)|p.C44*(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.P177fs*4(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CATGGTGGGGGCAGCGCCTCAC 0.649 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 23 10 --- --- --- --- ATP4A 495 broad.mit.edu 37 19 36054349 36054351 + In_Frame_Del DEL CTT CTT - TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr19:36054349_36054351delCTT ENST00000262623.3 - 2 119_121 c.91_93delAAG c.(91-93)del p.K31del NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 31 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) CGCCACCCGCCTTCTTCTTCTTG 0.601 9 1171 --- --- --- --- SPRED3 399473 broad.mit.edu 37 19 38882864 38882866 + In_Frame_Del DEL CCT CCT - TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr19:38882864_38882866delCCT ENST00000587013.1 + 3 569_571 c.491_493delCCT c.(490-495)ccc>c p.PS164del SPRED3_ENST00000586301.1_In_Frame_Del_p.PS120del|SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000338502.4_In_Frame_Del_p.PS120del Q2MJR0 SPRE3_HUMAN sprouty-related, EVH1 domain containing 3 120 multicellular organismal development central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1) 9 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TCACTCAccccctcctcctcctc 0.645 9 140 --- --- --- --- ZNF211 0 broad.mit.edu 37 19 58152473 58152476 + Frame_Shift_Del DEL CAAA CAAA - TCGA-NA-A4QX-01A-11D-A28R-08 TCGA-NA-A4QX-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d2e39c3-47c6-4241-85b5-17f7793a3afe f8a81e5f-712b-4863-b8c6-679ccccfb81f g.chr19:58152473_58152476delCAAA ENST00000544273.1 + 5 982_985 c.655_658delCAAA c.(655-660)cafs p.QT219fs ZNF211_ENST00000299871.5_Frame_Shift_Del_p.QT272fs|ZNF211_ENST00000541801.1_Frame_Shift_Del_p.QT198fs|ZNF211_ENST00000347302.3_Frame_Shift_Del_p.QT207fs|ZNF211_ENST00000420680.1_Frame_Shift_Del_p.QT211fs|ZNF211_ENST00000391703.3_Frame_Shift_Del_p.QT146fs|ZNF211_ENST00000254182.7_Frame_Shift_Del_p.QT198fs|ZNF211_ENST00000240731.4_Frame_Shift_Del_p.QT220fs Q13398 ZN211_HUMAN zinc finger protein 211 207 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGACGCCACTCAAACAGGGGAGAA 0.471 22 42 --- --- --- ---