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 SZT2 23334 broad.mit.edu 37 1 43868961 43868961 + Silent SNP C C A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr1:43868961C>A ENST00000562955.1 + 2 141 c.141C>A c.(139-141)ccC>ccA p.P47P SZT2_ENST00000372450.4_Silent_p.P47P|SZT2_ENST00000310739.4_Silent_p.P47P NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 47 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 AGGCCACACCCCAGGAGATGC 0.517 4 53 --- --- --- --- ZSWIM5 57643 broad.mit.edu 37 1 45501859 45501859 + Silent SNP C C A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr1:45501859C>A ENST00000359600.5 - 9 2212 c.2007G>T c.(2005-2007)ctG>ctT p.L669L NM_020883.1 NP_065934.1 Q9P217 ZSWM5_HUMAN zinc finger, SWIM-type containing 5 669 zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) TCTGTTGACCCAGGCCCATCA 0.577 4 75 --- --- --- --- MAST2 23139 broad.mit.edu 37 1 46493409 46493409 + Silent SNP A A T TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr1:46493409A>T ENST00000361297.2 + 17 2209 c.1926A>T c.(1924-1926)ctA>ctT p.L642L MAST2_ENST00000372009.2_Silent_p.L572L NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 642 Protein kinase. regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity p.L642L(1) breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) CCAGCCTCCTAATTACATCCA 0.423 29 69 --- --- --- --- JAK1 3716 broad.mit.edu 37 1 65300335 65300335 + Nonsense_Mutation SNP A A C TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr1:65300335A>C ENST00000342505.4 - 25 3623 c.3375T>G c.(3373-3375)taT>taG p.Y1125* NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 1125 Protein kinase 2. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity p.Y1125*(1) breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) TCATAAGTTGATAAACCTGTA 0.303 Mis ALL 3 66 --- --- --- --- JAK1 3716 broad.mit.edu 37 1 65301865 65301865 + Missense_Mutation SNP A A C TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr1:65301865A>C ENST00000342505.4 - 23 3422 c.3174T>G c.(3172-3174)ttT>ttG p.F1058L NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 1058 Protein kinase 2. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity p.F1058L(1) breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) AGGCAATATAAAATTTAGATT 0.423 Mis ALL 3 35 --- --- --- --- FMO1 2326 broad.mit.edu 37 1 171250000 171250000 + Missense_Mutation SNP T T C rs148980563 byFrequency TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr1:171250000T>C ENST00000354841.4 + 5 834 c.703T>C c.(703-705)Ttc>Ctc p.F235L FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.F235L|FMO1_ENST00000402921.2_Missense_Mutation_p.F172L NM_001282692.1 NP_001269621.1 Q01740 FMO1_HUMAN flavin containing monooxygenase 1 235 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding p.F235L(1) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GGACATGGTGTTCATGACACG 0.493 18 61 --- --- --- --- FCAMR 83953 broad.mit.edu 37 1 207133044 207133044 + Missense_Mutation SNP T T C TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr1:207133044T>C ENST00000324852.4 - 7 2027 c.1553A>G c.(1552-1554)aAg>aGg p.K518R FCAMR_ENST00000450945.2_Missense_Mutation_p.S251G|FCAMR_ENST00000400962.3_Missense_Mutation_p.S251G|FCAMR_ENST00000486178.1_5'UTR NM_001170631.1 NP_001164102.1 Q8WWV6 FCAMR_HUMAN Fc receptor, IgA, IgM, high affinity 473 integral to membrane|plasma membrane receptor activity p.S251G(1) endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1) 11 TCTCCAGAGCTTCCTTTGCAA 0.527 37 151 --- --- --- --- JMJD4 65094 broad.mit.edu 37 1 227920349 227920349 + Missense_Mutation SNP T T G TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr1:227920349T>G ENST00000366758.3 - 6 1135 c.1136A>C c.(1135-1137)aAc>aCc p.N379T JMJD4_ENST00000438896.2_Missense_Mutation_p.N363T|JMJD4_ENST00000485807.1_5'UTR|SNAP47_ENST00000480897.1_3'UTR|SNAP47_ENST00000366760.1_Intron NM_023007.2 NP_075383.2 Q9H9V9 JMJD4_HUMAN jumonji domain containing 4 379 p.N379T(2) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1) 9 Prostate(94;0.0885) CTCTTCAAAGTTGATGCCCGA 0.572 8 36 --- --- --- --- AHCTF1 25909 broad.mit.edu 37 1 247014376 247014376 + Silent SNP G G C TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr1:247014376G>C ENST00000366508.1 - 33 5173 c.5037C>G c.(5035-5037)gcC>gcG p.A1679A AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Silent_p.A1653A|AHCTF1_ENST00000391829.2_Silent_p.A1644A Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 1644 Mediates transcriptional activity (By similarity).|Necessary for nuclear localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding p.A1644A(1)|p.A1653A(1) NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) CACTAGTTACGGCAGATGGCA 0.363 7 164 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179537132 179537132 + Splice_Site SNP A A G TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr2:179537132A>G ENST00000589042.1 - 154 35155 c.e154+1 TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Splice_Site|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Splice_Site NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.?(1) 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) TTCCAAAAATACCTTTAGCTG 0.328 10 264 --- --- --- --- XRCC5 7520 broad.mit.edu 37 2 216986819 216986819 + Missense_Mutation SNP G G T TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr2:216986819G>T ENST00000392133.3 + 8 987 c.526G>T c.(526-528)Ggg>Tgg p.G176W XRCC5_ENST00000392132.2_Missense_Mutation_p.G176W P13010 XRCC5_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) 176 double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Renal(323;0.0328) Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117) AGATGGAAGTGGGGACAGAGG 0.438 Non-homologous end-joining 4 59 --- --- --- --- ANKRD28 23243 broad.mit.edu 37 3 15727591 15727591 + Missense_Mutation SNP G G C TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr3:15727591G>C ENST00000399451.2 - 20 2364 c.1997C>G c.(1996-1998)aCa>aGa p.T666R ANKRD28_ENST00000383777.1_Missense_Mutation_p.T699R|ANKRD28_ENST00000497037.1_5'UTR NM_001195098.1|NM_001195099.1|NM_015199.3 NP_001182027.1|NP_001182028.1|NP_056014.2 O15084 ANR28_HUMAN ankyrin repeat domain 28 666 nucleoplasm protein binding p.T133R(1)|p.T699R(1) breast(2)|endometrium(1)|large_intestine(2)|prostate(1) 6 AACACAGTCTGTGTGCCCGTT 0.458 4 22 --- --- --- --- PARP14 54625 broad.mit.edu 37 3 122418827 122418827 + Missense_Mutation SNP G G A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr3:122418827G>A ENST00000474629.2 + 6 1692 c.1426G>A c.(1426-1428)Ggc>Agc p.G476S NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 476 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity p.G313S(1)|p.G476S(1) NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) CATTTCTCCAGGCAGGTATTT 0.398 10 58 --- --- --- --- TBCK 93627 broad.mit.edu 37 4 107216263 107216263 + Missense_Mutation SNP C C G TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr4:107216263C>G ENST00000273980.5 - 4 701 c.254G>C c.(253-255)aGg>aCg p.R85T TBCK_ENST00000394708.2_Missense_Mutation_p.R85T|TBCK_ENST00000361687.4_Missense_Mutation_p.R85T|TBCK_ENST00000432496.2_Missense_Mutation_p.R85T|TBCK_ENST00000394706.3_Missense_Mutation_p.R85T Q8TEA7 TBCK_HUMAN TBC1 domain containing kinase Protein kinase. intracellular Rab GTPase activator activity p.R85T(2) NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 25 CACAGGTTTCCTTTCTCGAAG 0.378 36 137 --- --- --- --- BBS12 166379 broad.mit.edu 37 4 123663744 123663744 + Missense_Mutation SNP C C A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr4:123663744C>A ENST00000542236.1 + 3 1078 c.697C>A c.(697-699)Cac>Aac p.H233N BBS12_ENST00000314218.3_Missense_Mutation_p.H233N NM_001178007.1 NP_001171478.1 Q6ZW61 BBS12_HUMAN Bardet-Biedl syndrome 12 233 cellular protein metabolic process cilium ATP binding p.H233N(1) cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4) 21 AATACTAATCCACAGTAGGCA 0.388 Bardet-Biedl syndrome 4 64 --- --- --- --- WWC2 80014 broad.mit.edu 37 4 184182184 184182184 + Missense_Mutation SNP T T C TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr4:184182184T>C ENST00000403733.3 + 11 1607 c.1408T>C c.(1408-1410)Tat>Cat p.Y470H WWC2_ENST00000504005.1_Missense_Mutation_p.Y152H|WWC2_ENST00000378925.3_Missense_Mutation_p.Y372H|WWC2_ENST00000448232.2_Missense_Mutation_p.Y470H|WWC2_ENST00000513834.1_Missense_Mutation_p.Y470H NM_024949.5 NP_079225.5 Q6AWC2 WWC2_HUMAN WW and C2 domain containing 2 470 Ser-rich. p.Y470H(1) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 32 all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202) all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242) CACCGAACTCTATTACAGCAG 0.502 3 55 --- --- --- --- ARHGAP26 23092 broad.mit.edu 37 5 142513614 142513614 + Missense_Mutation SNP C C A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr5:142513614C>A ENST00000378004.3 + 19 2136 c.1781C>A c.(1780-1782)cCg>cAg p.P594Q ARHGAP26_ENST00000274498.4_Missense_Mutation_p.P594Q NM_001135608.1 NP_001129080.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 594 Ser-rich. actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCCAAGCCCCCGTCCTGCAGC 0.557 5 172 --- --- --- --- RBM27 54439 broad.mit.edu 37 5 145641192 145641192 + Nonsense_Mutation SNP G G A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr5:145641192G>A ENST00000265271.5 + 13 2179 c.2013G>A c.(2011-2013)tgG>tgA p.W671* RBM27_ENST00000506502.1_Nonsense_Mutation_p.W616* NM_018989.1 NP_061862.1 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 671 RRM. mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding p.W671*(1) NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GAGTCTTGTGGCATAGGGAAA 0.478 5 158 --- --- --- --- CPEB4 80315 broad.mit.edu 37 5 173317603 173317603 + Missense_Mutation SNP G G T TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr5:173317603G>T ENST00000265085.5 + 1 2321 c.867G>T c.(865-867)caG>caT p.Q289H CPEB4_ENST00000334035.5_Missense_Mutation_p.Q289H|CPEB4_ENST00000520867.1_Missense_Mutation_p.Q289H|CPEB4_ENST00000519835.1_Missense_Mutation_p.Q289H NM_030627.2 NP_085130.2 Q17RY0 CPEB4_HUMAN cytoplasmic polyadenylation element binding protein 4 289 nucleotide binding|RNA binding p.Q289H(1) NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 20 Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GCAGCTACCAGAGTCCGTCAC 0.577 7 227 --- --- --- --- HIST1H3G 8355 broad.mit.edu 37 6 26271452 26271452 + Missense_Mutation SNP C C T TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr6:26271452C>T ENST00000305910.3 - 1 160 c.161G>A c.(160-162)cGc>cAc p.R54H NM_003534.2 NP_003525.1 P68431 H31_HUMAN histone cluster 1, H3g 54 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding p.R54H(1) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 CTTCTGATAGCGGCGAATCTC 0.607 7 105 --- --- --- --- COL11A2 1302 broad.mit.edu 37 6 33139307 33139307 + Missense_Mutation SNP C C A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr6:33139307C>A ENST00000341947.2 - 43 3422 c.3195G>T c.(3193-3195)caG>caT p.Q1065H COL11A2_ENST00000374712.1_Missense_Mutation_p.Q984H|COL11A2_ENST00000357486.1_Missense_Mutation_p.Q1044H|COL11A2_ENST00000361917.1_Missense_Mutation_p.Q958H|COL11A2_ENST00000374708.4_Missense_Mutation_p.Q979H|COL11A2_ENST00000374714.1_Missense_Mutation_p.Q1039H|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000395197.1_Missense_Mutation_p.Q1005H|COL11A2_ENST00000374713.1_Missense_Mutation_p.Q1018H NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 1065 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CCACAGGACCCTGCACTCCAT 0.632 4 61 --- --- --- --- SLC26A8 116369 broad.mit.edu 37 6 35927567 35927567 + Missense_Mutation SNP C C A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr6:35927567C>A ENST00000490799.1 - 15 2008 c.1655G>T c.(1654-1656)gGg>gTg p.G552V SLC26A8_ENST00000355574.2_Missense_Mutation_p.G552V|SLC26A8_ENST00000394602.2_Missense_Mutation_p.G447V NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 552 STAS. cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 GATTTTCACCCCAGGAATGGT 0.383 6 112 --- --- --- --- BAI3 577 broad.mit.edu 37 6 69758171 69758171 + Silent SNP C C T TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr6:69758171C>T ENST00000370598.1 + 14 3023 c.2202C>T c.(2200-2202)aaC>aaT p.N734N NM_001704.2 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 734 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.N734N(2) NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) GGGCAAGAAACTCAGAAGATA 0.383 9 52 --- --- --- --- PPIL4 85313 broad.mit.edu 37 6 149826610 149826610 + Missense_Mutation SNP T T C TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr6:149826610T>C ENST00000340881.2 - 3 889 c.356A>G c.(355-357)aAg>aGg p.K119R PPIL4_ENST00000253329.2_Silent_p.K486K Q8WUA2 PPIL4_HUMAN peptidylprolyl isomerase (cyclophilin)-like 4 483 PPIase cyclophilin-type. protein folding nucleus nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding p.K486K(1) endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1) 13 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885) TAGATTTTTCTTTATCTTTGG 0.338 14 95 --- --- --- --- CLDN12 9069 broad.mit.edu 37 7 90042673 90042673 + Missense_Mutation SNP C C T TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr7:90042673C>T ENST00000535571.1 + 2 992 c.683C>T c.(682-684)tCt>tTt p.S228F CLDN12_ENST00000394605.2_Missense_Mutation_p.S228F|CLDN12_ENST00000287916.4_Missense_Mutation_p.S228F|CTB-13L3.1_ENST00000480135.1_RNA NM_001185072.2 NP_001172001.1 P56749 CLD12_HUMAN claudin 12 228 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity p.S228F(1) breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2) 15 TCAGCACGCTCTCGCCTCTCT 0.423 40 145 --- --- --- --- PHF20L1 51105 broad.mit.edu 37 8 133844506 133844506 + Missense_Mutation SNP C C A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr8:133844506C>A ENST00000395386.2 + 15 2070 c.1771C>A c.(1771-1773)Ctc>Atc p.L591I PHF20L1_ENST00000395390.2_Missense_Mutation_p.L566I|PHF20L1_ENST00000220847.7_5'UTR NM_016018.4 NP_057102.4 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 591 nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2) 15 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) AGACAGTTCCCTCGAATTTTT 0.363 6 165 --- --- --- --- KLF4 9314 broad.mit.edu 37 9 110249346 110249346 + Missense_Mutation SNP C C G TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr9:110249346C>G ENST00000374672.4 - 4 1700 c.1227G>C c.(1225-1227)aaG>aaC p.K409N NM_004235.4 NP_004226.3 O43474 KLF4_HUMAN Kruppel-like factor 4 (gut) 443 Pro-rich. fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter nucleus RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.K409N(1)|p.K400N(1) breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2) 16 GATGGGAACTCTTTGTGTAGG 0.592 12 192 --- --- --- --- AGPAT2 10555 broad.mit.edu 37 9 139581703 139581703 + Missense_Mutation SNP A A T TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr9:139581703A>T ENST00000371696.2 - 1 172 c.107T>A c.(106-108)cTg>cAg p.L36Q AGPAT2_ENST00000538402.1_Missense_Mutation_p.L36Q|AGPAT2_ENST00000371694.3_Missense_Mutation_p.L36Q NM_006412.3 NP_006403.2 O15120 PLCB_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 2 36 phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity p.L36Q(1) endometrium(1)|large_intestine(1)|lung(2)|prostate(2) 6 all_cancers(76;0.0893)|all_epithelial(76;0.231) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123) CGTGAAGCACAGCGCGCAGTA 0.726 5 34 --- --- --- --- ZNF33A 7581 broad.mit.edu 37 10 38345420 38345420 + Missense_Mutation SNP A A T TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr10:38345420A>T ENST00000374618.3 + 5 2546 c.2368A>T c.(2368-2370)Agc>Tgc p.S790C ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Missense_Mutation_p.S796C|ZNF33A_ENST00000307441.9_Missense_Mutation_p.S789C|ZNF33A_ENST00000458705.2_Missense_Mutation_p.S789C NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2 NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1 Q06730 ZN33A_HUMAN zinc finger protein 33A 789 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S789C(1) cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2) 46 GCCACAAGTCAGCCTCCATAA 0.378 16 59 --- --- --- --- STK32C 282974 broad.mit.edu 37 10 134145147 134145147 + Missense_Mutation SNP G G A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr10:134145147G>A ENST00000368625.4 - 1 179 c.94C>T c.(94-96)Ctt>Ttt p.L32F Q86UX6 ST32C_HUMAN serine/threonine kinase 32C 0 ATP binding|metal ion binding|protein serine/threonine kinase activity p.L32F(1) breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1) 23 all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203) Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222) CCGCTCCAAAGGTGGTGCCTC 0.682 21 41 --- --- --- --- ATG13 9776 broad.mit.edu 37 11 46671807 46671807 + Missense_Mutation SNP G G T TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr11:46671807G>T ENST00000434074.1 + 6 1087 c.398G>T c.(397-399)aGg>aTg p.R133M ATG13_ENST00000529655.1_Missense_Mutation_p.R133M|ATG13_ENST00000312040.4_Missense_Mutation_p.R133M|ATG13_ENST00000526508.1_Missense_Mutation_p.R133M|ATG13_ENST00000530500.1_Missense_Mutation_p.R54M|ATG13_ENST00000524625.1_Missense_Mutation_p.R133M|ATG13_ENST00000528494.1_Missense_Mutation_p.R133M|ATG13_ENST00000359513.4_Missense_Mutation_p.R133M|ATG13_ENST00000451945.1_Missense_Mutation_p.R133M NM_001205120.1 NP_001192049.1 O75143 ATG13_HUMAN autophagy related 13 133 autophagic vacuole assembly cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 15 GCTATAACTAGGGTGACACCA 0.428 6 78 --- --- --- --- KDM2A 22992 broad.mit.edu 37 11 66982827 66982827 + Missense_Mutation SNP G G T TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr11:66982827G>T ENST00000529006.2 + 7 949 c.503G>T c.(502-504)tGg>tTg p.W168L KDM2A_ENST00000398645.2_Missense_Mutation_p.W168L|KDM2A_ENST00000526258.1_3'UTR NM_012308.2 NP_036440.1 Q9Y2K7 KDM2A_HUMAN lysine (K)-specific demethylase 2A 168 JmjC. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 TTCATTGACTGGGTAGACAAC 0.418 4 49 --- --- --- --- SYTL2 54843 broad.mit.edu 37 11 85459457 85459457 + Silent SNP A A T TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr11:85459457A>T ENST00000316356.4 - 3 675 c.111T>A c.(109-111)ccT>ccA p.P37P SYTL2_ENST00000527523.1_5'UTR|SYTL2_ENST00000524452.1_Silent_p.P37P|SYTL2_ENST00000528231.1_Silent_p.P37P|SYTL2_ENST00000389960.4_Silent_p.P37P Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 37 RabBD. intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding p.P37P(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) TAATTTTTTCAGGCAAATGTC 0.393 5 78 --- --- --- --- ARHGAP32 9743 broad.mit.edu 37 11 128839002 128839002 + Missense_Mutation SNP G G T TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr11:128839002G>T ENST00000310343.9 - 22 6063 c.6064C>A c.(6064-6066)Cag>Aag p.Q2022K ARHGAP32_ENST00000527272.1_Missense_Mutation_p.Q1673K|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.Q1673K|ARHGAP32_ENST00000524655.1_3'UTR NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 2022 Interaction with FYN. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 TTATCATACTGGGACACAACA 0.582 4 71 --- --- --- --- CEP290 80184 broad.mit.edu 37 12 88514920 88514920 + Missense_Mutation SNP T T C TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr12:88514920T>C ENST00000552810.1 - 14 1556 c.1213A>G c.(1213-1215)Act>Gct p.T405A CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Missense_Mutation_p.T405A NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 405 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding p.T405A(2) breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 TTCATATGAGTCTGTTGAGAA 0.383 3 43 --- --- --- --- ACACB 32 broad.mit.edu 37 12 109639448 109639448 + Missense_Mutation SNP T T A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr12:109639448T>A ENST00000338432.7 + 19 2974 c.2855T>A c.(2854-2856)cTg>cAg p.L952Q ACACB_ENST00000377854.5_Missense_Mutation_p.L952Q|ACACB_ENST00000377848.3_Missense_Mutation_p.L952Q O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 952 Biotinyl-binding. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding p.L952Q(1) NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) GGTGCCGTGCTGGAAGCAGGC 0.552 7 79 --- --- --- --- TBX5 6910 broad.mit.edu 37 12 114793645 114793645 + Missense_Mutation SNP G G A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr12:114793645G>A ENST00000310346.4 - 9 1915 c.1249C>T c.(1249-1251)Ccc>Tcc p.P417S TBX5_ENST00000349716.5_Missense_Mutation_p.P367S|TBX5_ENST00000405440.2_Missense_Mutation_p.P417S NM_000192.3 NP_000183.2 Q99593 TBX5_HUMAN T-box 5 417 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding p.P417S(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) CTGTCCATGGGCTGCACGGTG 0.657 11 46 --- --- --- --- TMEM132D 121256 broad.mit.edu 37 12 129563125 129563125 + Missense_Mutation SNP A A G TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr12:129563125A>G ENST00000422113.2 - 8 2395 c.2069T>C c.(2068-2070)aTc>aCc p.I690T TMEM132D_ENST00000389441.4_Missense_Mutation_p.I228T NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 690 integral to membrane p.I690T(1) NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) AGTGGCAAAGATGGCCCTGTT 0.577 5 109 --- --- --- --- ENOX1 55068 broad.mit.edu 37 13 43872565 43872565 + Nonsense_Mutation SNP C C A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr13:43872565C>A ENST00000261488.6 - 12 1940 c.1363G>T c.(1363-1365)Gaa>Taa p.E455* ENOX1_ENST00000412891.1_Nonsense_Mutation_p.E455* NM_001242863.1|NM_017993.3 NP_001229792.1|NP_060463.2 Q8TC92 ENOX1_HUMAN ecto-NOX disulfide-thiol exchanger 1 455 electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity p.E455*(2) breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1) 34 Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172) AAAAGCTGTTCTTTTTCTTGT 0.527 38 103 --- --- --- --- TUBGCP3 10426 broad.mit.edu 37 13 113181286 113181286 + Missense_Mutation SNP C C A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr13:113181286C>A ENST00000261965.3 - 13 1711 c.1525G>T c.(1525-1527)Gtg>Ttg p.V509L TUBGCP3_ENST00000375669.3_Missense_Mutation_p.V509L|TUBGCP3_ENST00000462580.1_5'UTR NM_006322.4 NP_006313.1 Q96CW5 GCP3_HUMAN tubulin, gamma complex associated protein 3 509 G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization centriole|cytosol|polar microtubule gamma-tubulin binding|structural constituent of cytoskeleton p.V509L(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1) 25 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) GACTTGGTCACAGCTATCATC 0.423 3 67 --- --- --- --- CEP128 145508 broad.mit.edu 37 14 81251838 81251838 + Nonsense_Mutation SNP G G A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr14:81251838G>A ENST00000555265.1 - 15 1987 c.1612C>T c.(1612-1614)Caa>Taa p.Q538* CEP128_ENST00000281129.3_Nonsense_Mutation_p.Q538* Q6ZU80 CE128_HUMAN centrosomal protein 128kDa 538 centriole|spindle pole NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 TTCTCTATTTGTTGTAATGCT 0.353 11 22 --- --- --- --- COMMD4 54939 broad.mit.edu 37 15 75631620 75631620 + Missense_Mutation SNP T T C TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr15:75631620T>C ENST00000267935.8 + 6 516 c.317T>C c.(316-318)cTg>cCg p.L106P COMMD4_ENST00000567195.1_Intron|COMMD4_ENST00000338995.6_Missense_Mutation_p.L106P|COMMD4_ENST00000564815.1_Missense_Mutation_p.L84P|COMMD4_ENST00000562789.1_Missense_Mutation_p.L112P NM_017828.3 NP_060298.2 Q9H0A8 COMD4_HUMAN COMM domain containing 4 106 cytoplasm protein binding p.L106P(3) breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1) 10 GCGGCCAGCCTGTGCCGCTGT 0.622 3 45 --- --- --- --- AP3B2 8120 broad.mit.edu 37 15 83332552 83332552 + Splice_Site SNP C C A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr15:83332552C>A ENST00000261722.3 - 19 2587 c.e19+1 AP3B2_ENST00000535359.1_Splice_Site|AP3B2_ENST00000535348.1_Splice_Site|RP11-752G15.3_ENST00000560650.1_RNA NM_004644.3 NP_004635.2 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 subunit endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity p.?(2) breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) AAGGCTCTCACTGTTTTCCTG 0.587 3 36 --- --- --- --- GTF3C1 2975 broad.mit.edu 37 16 27500375 27500375 + Missense_Mutation SNP G G T TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr16:27500375G>T ENST00000356183.4 - 21 3433 c.3418C>A c.(3418-3420)Cag>Aag p.Q1140K GTF3C1_ENST00000561623.1_Missense_Mutation_p.Q1140K NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 1140 transcription factor TFIIIC complex DNA binding|protein binding p.Q1140K(1) breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 TTTTTGGCCTGGTTGATGATG 0.577 5 121 --- --- --- --- BRD7 29117 broad.mit.edu 37 16 50368807 50368807 + Splice_Site SNP C C A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr16:50368807C>A ENST00000394688.3 - 7 862 c.e7-1 BRD7_ENST00000394689.2_Splice_Site Q9NPI1 BRD7_HUMAN bromodomain containing 7 cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleus histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding p.?(1) autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2) 22 all_cancers(37;0.0127) GAATTCTTTCCTAAACATATT 0.373 4 57 --- --- --- --- BRD7 29117 broad.mit.edu 37 16 50402142 50402142 + Silent SNP C C A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr16:50402142C>A ENST00000394688.3 - 2 276 c.117G>T c.(115-117)acG>acT p.T39T BRD7_ENST00000394689.2_Silent_p.T39T|BRD7_ENST00000401491.3_5'UTR Q9NPI1 BRD7_HUMAN bromodomain containing 7 39 Lys-rich. cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleus histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding p.T39T(1) autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2) 22 all_cancers(37;0.0127) CCGAGCTGCCCGTGGAGAGTT 0.468 5 162 --- --- --- --- CES2 8824 broad.mit.edu 37 16 66969408 66969408 + Missense_Mutation SNP C C A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr16:66969408C>A ENST00000317091.4 + 1 1046 c.62C>A c.(61-63)cCg>cAg p.P21Q CES2_ENST00000417689.1_Missense_Mutation_p.P21Q NM_003869.5 NP_003860.2 O00748 EST2_HUMAN carboxylesterase 2 0 catabolic process endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166) CAGCGCACCCCGCTGACTCCC 0.662 5 126 --- --- --- --- DNAH2 146754 broad.mit.edu 37 17 7680786 7680786 + Nonsense_Mutation SNP C C G TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr17:7680786C>G ENST00000572933.1 + 33 6541 c.5081C>G c.(5080-5082)tCa>tGa p.S1694* DNAH2_ENST00000389173.2_Nonsense_Mutation_p.S1694* Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1694 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.S1694*(1) NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) AATAAGTATTCAGAAGCCATC 0.507 30 378 --- --- --- --- DNAH9 1770 broad.mit.edu 37 17 11572560 11572560 + Missense_Mutation SNP G G A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr17:11572560G>A ENST00000262442.4 + 16 2979 c.2911G>A c.(2911-2913)Ggc>Agc p.G971S DNAH9_ENST00000454412.2_Missense_Mutation_p.G971S NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.G971S(1) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CCCACAAAATGGCTCTCCTCA 0.542 5 125 --- --- --- --- CCDC144A 9720 broad.mit.edu 37 17 16594036 16594036 + Missense_Mutation SNP G G T TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr17:16594036G>T ENST00000443444.2 + 1 462 c.322G>T c.(322-324)Gac>Tac p.D108Y CCDC144A_ENST00000456009.1_Missense_Mutation_p.D108Y|CCDC144A_ENST00000360524.8_Missense_Mutation_p.D108Y|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.D108Y|CCDC144A_ENST00000340621.5_Missense_Mutation_p.D108Y|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000399273.1_Missense_Mutation_p.D108Y A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 108 p.D108Y(1) CACTGGCGTGGACAAGAGGGA 0.657 27 245 --- --- --- --- FLII 2314 broad.mit.edu 37 17 18151872 18151872 + Missense_Mutation SNP G G C TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr17:18151872G>C ENST00000327031.4 - 18 2407 c.2182C>G c.(2182-2184)Ctg>Gtg p.L728V FLII_ENST00000579294.1_Missense_Mutation_p.L717V|FLII_ENST00000545457.2_Missense_Mutation_p.L673V|FLII_ENST00000578558.1_Intron|FLII_ENST00000379450.4_Missense_Mutation_p.L642V NM_002018.3 NP_002009.1 Q13045 FLII_HUMAN flightless I homolog (Drosophila) 728 Interaction with ACTL6A. multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding p.L728V(1) central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_neural(463;0.228) ACCTTGTACAGCTTGGGCTGC 0.622 OREG0024225 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 61 --- --- --- --- ABCA5 23461 broad.mit.edu 37 17 67252297 67252297 + Splice_Site SNP C C T TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr17:67252297C>T ENST00000392676.3 - 29 3923 c.e29+1 ABCA5_ENST00000392677.2_Splice_Site|ABCA5_ENST00000588877.1_Splice_Site Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity p.?(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) GAATAAATTACCTCCTCACAA 0.353 7 134 --- --- --- --- MAP2K6 5608 broad.mit.edu 37 17 67513026 67513026 + Silent SNP C C T TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr17:67513026C>T ENST00000590474.1 + 3 401 c.114C>T c.(112-114)tgC>tgT p.C38C MAP2K6_ENST00000589647.1_5'UTR NM_002758.3 NP_002749.2 P52564 MP2K6_HUMAN mitogen-activated protein kinase kinase 6 38 activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.C38C(1) central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 20 Breast(10;6.05e-10) CCAAGGCTTGCATTTCTATTG 0.363 5 106 --- --- --- --- DOT1L 84444 broad.mit.edu 37 19 2216565 2216565 + Missense_Mutation SNP C C A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr19:2216565C>A ENST00000398665.3 + 20 2245 c.2209C>A c.(2209-2211)Cag>Aag p.Q737K DOT1L_ENST00000608122.1_3'UTR NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 737 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GAACACGCCCCAGTACCTGGC 0.672 4 76 --- --- --- --- TMEM143 55260 broad.mit.edu 37 19 48836662 48836662 + Silent SNP C C A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr19:48836662C>A ENST00000293261.3 - 8 1510 c.1194G>T c.(1192-1194)gtG>gtT p.V398V TMEM143_ENST00000377431.2_Silent_p.V298V|TMEM143_ENST00000435956.3_Silent_p.V363V|TMEM143_ENST00000436660.2_Silent_p.V333V|TMEM143_ENST00000541566.1_Silent_p.V288V NM_018273.2 NP_060743.2 Q96AN5 TM143_HUMAN transmembrane protein 143 398 integral to membrane|mitochondrion endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 14 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157) GCCAGTTCTCCACCTCCGACC 0.622 4 82 --- --- --- --- HSPBP1 23640 broad.mit.edu 37 19 55789207 55789207 + Missense_Mutation SNP T T C TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr19:55789207T>C ENST00000255631.5 - 4 528 c.218A>G c.(217-219)cAg>cGg p.Q73R HSPBP1_ENST00000376343.3_Missense_Mutation_p.Q73R|HSPBP1_ENST00000587922.1_Missense_Mutation_p.Q73R|HSPBP1_ENST00000433386.2_Missense_Mutation_p.Q73R NM_001130106.1|NM_012267.4 NP_001123578.1|NP_036399.3 Q9NZL4 HPBP1_HUMAN HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1 76 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding enzyme inhibitor activity|protein binding p.Q73R(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1) 8 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) CTGCAGCCACTGACGCCTCTG 0.577 7 21 --- --- --- --- CTSA 5476 broad.mit.edu 37 20 44520659 44520659 + Missense_Mutation SNP C C A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr20:44520659C>A ENST00000372484.3 + 3 635 c.353C>A c.(352-354)cCc>cAc p.P118H CTSA_ENST00000354880.5_Missense_Mutation_p.P118H|CTSA_ENST00000191018.5_Missense_Mutation_p.P100H|CTSA_ENST00000372459.2_Missense_Mutation_p.P100H NM_000308.2|NM_001127695.1 NP_000299.2|NP_001121167.1 P10619 PPGB_HUMAN cathepsin A 100 intracellular protein transport|proteolysis endoplasmic reticulum|lysosome|nucleus enzyme activator activity|protein binding|serine-type carboxypeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) GAGCATGGCCCCTTCCTGGTG 0.562 OREG0025986 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 47 --- --- --- --- KRTAP10-4 386672 broad.mit.edu 37 21 45993895 45993895 + Missense_Mutation SNP C C T TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr21:45993895C>T ENST00000400374.3 + 1 290 c.260C>T c.(259-261)cCc>cTc p.P87L TSPEAR_ENST00000323084.4_Intron NM_198687.1 NP_941960.1 P60372 KR104_HUMAN keratin associated protein 10-4 87 36 X 5 AA repeats of C-C-X(3). keratin filament p.P87L(1) NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1) 18 TCCTGCACGCCCTCGTGCTGC 0.682 16 85 --- --- --- --- ARSF 416 broad.mit.edu 37 X 3002395 3002395 + Missense_Mutation SNP G G T TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chrX:3002395G>T ENST00000381127.1 + 6 739 c.518G>T c.(517-519)tGc>tTc p.C173F ARSF_ENST00000359361.2_Missense_Mutation_p.C173F|ARSF_ENST00000537104.1_Missense_Mutation_p.C173F NM_001201538.1|NM_001201539.1 NP_001188467.1|NP_001188468.1 P54793 ARSF_HUMAN arylsulfatase F 173 extracellular region arylsulfatase activity|metal ion binding p.C173F(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GTTGACAGCTGCTGGCCGGAC 0.527 6 50 --- --- --- --- OR5H14 403273 broad.mit.edu 37 3 97868429 97868429 + Frame_Shift_Del DEL C C - TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr3:97868429delC ENST00000437310.1 + 1 260 c.200delC c.(199-201)gctfs p.A67fs NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 67 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 GGGAATTTAGCTTTTGTGGAT 0.398 10 296 --- --- --- --- MTUS1 57509 broad.mit.edu 37 8 17613213 17613215 + In_Frame_Del DEL GGT GGT - TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr8:17613213_17613215delGGT ENST00000381869.3 - 2 575_577 c.102_104delACC c.(100-105)ccacct>cct p.34_35PP>P MTUS1_ENST00000262102.6_In_Frame_Del_p.34_35PP>P|MTUS1_ENST00000381862.3_In_Frame_Del_p.34_35PP>P|MTUS1_ENST00000519263.1_In_Frame_Del_p.34_35PP>P NM_001001925.2 NP_001001925.1 Q9ULD2 MTUS1_HUMAN microtubule associated tumor suppressor 1 34 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 36 Colorectal(111;0.0778) GTTTTGTGTAGGTGGTGATTTCG 0.399 10 158 --- --- --- --- HEXIM1 10614 broad.mit.edu 37 17 43227525 43227526 + In_Frame_Ins INS - - GGAGCT TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr17:43227525_43227526insGGAGCT ENST00000332499.2 + 1 2842_2843 c.968_969insGGAGCT c.(967-972)cgggag>cgGGAGCTggag p.328_329insLE NM_006460.2 NP_006451.1 O94992 HEXI1_HUMAN hexamethylene bis-acetamide inducible 1 328 Required for inhibition of ESR1-dependent transcription. negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 GCGCGTGTGCGGGAGCTGGAGC 0.668 17 112 --- --- --- --- CLASRP 11129 broad.mit.edu 37 19 45567373 45567375 + In_Frame_Del DEL GAG GAG - TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr19:45567373_45567375delGAG ENST00000544944.2 + 11 1701_1703 c.1009_1011delGAG c.(1009-1011)gagdel p.E338del CLASRP_ENST00000391953.4_In_Frame_Del_p.E276del|CLASRP_ENST00000221455.3_In_Frame_Del_p.E338del Q8N2M8 CLASR_HUMAN CLK4-associating serine/arginine rich protein 338 mRNA processing|RNA splicing nucleus breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1) 16 GGGCAGCGATGAGGAGGCAGCCG 0.704 7 35 --- --- --- ---