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 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 7 496 0 0 1 0 0 KAT6A 7994 broad.mit.edu 37 8 41834629 41834629 + Silent SNP G G A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr8:41834629G>A ENST00000396930.3 - 8 1803 c.1260C>T c.(1258-1260)tcC>tcT p.S420S KAT6A_ENST00000485568.1_Silent_p.S420S|KAT6A_ENST00000265713.2_Silent_p.S420S|KAT6A_ENST00000406337.1_Silent_p.S420S NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 420 Interaction with RUNX1-1. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding GCCCATCAGGGGAAGGGGTAA 0.478000 11 406 0 0 1 0 0 NOTCH2 4853 broad.mit.edu 37 1 120458964 120458964 + Missense_Mutation SNP C C G TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr1:120458964C>G ENST00000256646.2 - 34 6600 c.6381G>C c.(6379-6381)aaG>aaC p.K2127N NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 2127 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) TCCTACTACCCTTGGCATCCT 0.507000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 8 574 0 0 1 0 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 8 298 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145293269 145293269 + Splice_Site SNP G G A rs61350760 by1000genomes TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr1:145293269G>A ENST00000369338.1 + 1 155 c.e1+1 NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_Splice_Site A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TTTCACAACAGTAAGTTAAGA 0.423000 15 447 0 0 1 0 0 WASH4P 0 broad.mit.edu 37 16 66940 66940 + Silent SNP G G A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr16:66940G>A ENST00000326592.9 - 5 1354 c.696C>T c.(694-696)agC>agT p.S232S p.S232S(1) GCTCTCTCTTGCTGATGGACA 0.597000 9 176 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43886398 43886398 + Missense_Mutation SNP G G A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr12:43886398G>A ENST00000389420.3 - 6 985 c.986C>T c.(985-987)aCa>aTa p.T329I ADAMTS20_ENST00000553158.1_Missense_Mutation_p.T329I NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 329 Peptidase M12B. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GTTCTTTAATGTGGTAGCACC 0.363000 10 114 0 0 1 0 0 UBXN11 91544 broad.mit.edu 37 1 26608892 26608892 + Silent SNP G G A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr1:26608892G>A ENST00000314675.7 - 11 1180 c.1101C>T c.(1099-1101)ccC>ccT p.P367P UBXN11_ENST00000374223.1_Silent_p.P244P|UBXN11_ENST00000374217.2_Silent_p.P454P|UBXN11_ENST00000357089.4_Silent_p.P454P|UBXN11_ENST00000374221.3_Silent_p.P487P|UBXN11_ENST00000374222.1_Silent_p.P487P NM_001077262.1 NP_001070730.1 Q5T124 UBX11_HUMAN UBX domain protein 11 487 cytoplasm|cytoskeleton endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3) 23 gaccgggaccgggacagggac 0.716000 6 325 0 0 1 0 0 KIAA0907 22889 broad.mit.edu 37 1 155887393 155887393 + Missense_Mutation SNP T T G TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr1:155887393T>G ENST00000368320.3 - 11 1362 c.1337A>C c.(1336-1338)cAg>cCg p.Q446P KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P Q7Z7F0 K0907_HUMAN KIAA0907 446 Pro-rich. breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) gggctggggctggggctgggg 0.567000 18 199 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661363 22661363 + RNA SNP G G C TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr22:22661363G>C ENST00000426066.1 + 0 360 NR_027293.1 GGGCAACAGCGAGGGAAATGT 0.502000 5 322 0 0 1 0 0 KLHL32 114792 broad.mit.edu 37 6 97424015 97424015 + Missense_Mutation SNP C C A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr6:97424015C>A ENST00000369261.4 + 3 529 c.166C>A c.(166-168)Cac>Aac p.H56N KLHL32_ENST00000539200.1_Missense_Mutation_p.H56N|KLHL32_ENST00000536676.1_Missense_Mutation_p.H56N|KLHL32_ENST00000544166.1_5'UTR NM_052904.3 NP_443136.2 Q96NJ5 KLH32_HUMAN kelch-like family member 32 56 BTB. breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) ATTCCATGCTCACAAGGCAGT 0.463000 20 239 6.21321e-17 6.62743e-17 1 1 0 SDHAP1 0 broad.mit.edu 37 3 195698264 195698264 + RNA SNP T T C rs12485654 by1000genomes TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr3:195698264T>C ENST00000427841.1 - 0 1608 NR_003264.2 TTTGTCAACATTCGTGACAGA 0.413000 7 140 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414373 20414373 + Silent SNP G G A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr9:20414373G>A ENST00000380338.4 - 5 757 c.471C>T c.(469-471)agC>agT p.S157S MLLT3_ENST00000429426.2_Silent_p.S154S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 157 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S157S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.527000 T MLL ALL 7 317 0 0 1 0 0 MMP13 4322 broad.mit.edu 37 11 102816457 102816457 + Silent SNP A A T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr11:102816457A>T ENST00000260302.3 - 9 1261 c.1233T>A c.(1231-1233)atT>atA p.I411I MMP13_ENST00000340273.4_Silent_p.I411I NM_002427.3 NP_002418.1 P45452 MMP13_HUMAN matrix metallopeptidase 13 (collagenase 3) 411 Hemopexin-like 3. collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) CTTTATCCATAATATGGTTAG 0.303000 16 191 0 0 1 0 0 KBTBD6 89890 broad.mit.edu 37 13 41705969 41705969 + Missense_Mutation SNP G G A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr13:41705969G>A ENST00000379485.1 - 1 913 c.679C>T c.(679-681)Cgc>Tgc p.R227C KBTBD6_ENST00000499385.2_Missense_Mutation_p.R161C NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 227 protein binding NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) CTATCCAAGCGCAGGACAGCC 0.577000 16 465 0 0 1 0 0 MST1L 0 broad.mit.edu 37 1 17083816 17083816 + RNA SNP G G A rs11260920 by1000genomes TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr1:17083816G>A ENST00000455405.2 - 0 772 GTGCATACTCGGTTGGGGATT 0.572000 6 97 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 20 435 0 0 1 0 0 SVILP1 0 broad.mit.edu 37 10 30986357 30986357 + RNA SNP T T C rs117915096 by1000genomes TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr10:30986357T>C ENST00000435645.1 + 0 347 CGGCGCTCAATAGTGGGGACT 0.552000 3 92 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 7 508 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 5 244 0 0 1 0 0 LRFN1 57622 broad.mit.edu 37 19 39804836 39804836 + Missense_Mutation SNP C C T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr19:39804836C>T ENST00000248668.4 - 1 1140 c.1141G>A c.(1141-1143)Gcg>Acg p.A381T NM_020862.1 NP_065913.1 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III domain containing 1 381 Ig-like. cell junction|integral to membrane|postsynaptic density|postsynaptic membrane central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) TCCACGGGCGCCGTCGCTTCC 0.692000 7 203 0 0 1 0 0 PHKA2 5256 broad.mit.edu 37 X 18956750 18956750 + Missense_Mutation SNP C C G TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chrX:18956750C>G ENST00000379942.4 - 10 1701 c.1036G>C c.(1036-1038)Gtt>Ctt p.V346L NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 346 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) CTCACCTGAACAGCATCACCA 0.368000 36 390 0 0 1 0 0 RP4-777D9.2 0 broad.mit.edu 37 20 21143079 21143079 + RNA SNP G G A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr20:21143079G>A ENST00000591761.1 - 0 5142 PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA TCCGATACCAGTTTCAGAATA 0.463000 4 124 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887686 12887686 + Silent SNP T T C rs59802947 by1000genomes TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr1:12887686T>C ENST00000535591.1 - 3 366 c.171A>G c.(169-171)agA>agG p.R57R NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 57 p.R57R(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GAAGTTTCCATCTCCTGTGGG 0.468000 20 967 0 0 1 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72663998 72663998 + RNA SNP T T G TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr7:72663998T>G ENST00000425256.1 - 0 902 NR_002164.1 ATAGCCGGGGTCCTTGAATAC 0.488000 5 251 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 5 78 0.00116845 0.00117662 1 1 0 BABAM1 29086 broad.mit.edu 37 19 17384765 17384765 + Missense_Mutation SNP C C T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr19:17384765C>T ENST00000359435.4 + 4 590 c.397C>T c.(397-399)Cgg>Tgg p.R133W BABAM1_ENST00000601043.1_Missense_Mutation_p.R133W|BABAM1_ENST00000595632.1_Intron|BABAM1_ENST00000448635.2_3'UTR|BABAM1_ENST00000447614.2_Missense_Mutation_p.R133W|CTD-2278I10.6_ENST00000596542.1_Missense_Mutation_p.R55W|BABAM1_ENST00000598188.1_Missense_Mutation_p.R133W NM_001033549.1 NP_001028721.1 Q9NWV8 BABA1_HUMAN BRISC and BRCA1 A complex member 1 133 VWFA-like. chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|protein K63-linked deubiquitination|response to ionizing radiation BRCA1-A complex|BRISC complex|cytoplasm protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 5 GATGTTCGTGCGGACAAAACA 0.582000 4 151 0 0 1 0 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 10 140 0 0 1 0 0 KIF24 347240 broad.mit.edu 37 9 34311094 34311094 + Missense_Mutation SNP C C T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr9:34311094C>T ENST00000379166.2 - 2 370 c.251G>A c.(250-252)cGc>cAc p.R84H KIF24_ENST00000402558.2_Missense_Mutation_p.R84H|KIF24_ENST00000345050.2_Missense_Mutation_p.R84H|KIF24_ENST00000379174.3_Missense_Mutation_p.R84H NM_194313.2 NP_919289.2 Q5T7B8 KIF24_HUMAN kinesin family member 24 84 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 32 LUSC - Lung squamous cell carcinoma(29;0.0107) AGATTTGATGCGCAGGCTGCT 0.418000 14 155 0 0 1 0 0 IL20RA 53832 broad.mit.edu 37 6 137323028 137323028 + Silent SNP C C T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr6:137323028C>T ENST00000367748.1 - 6 1582 c.996G>A c.(994-996)ccG>ccA p.P332P IL20RA_ENST00000541547.1_Silent_p.P394P|IL20RA_ENST00000316649.5_Silent_p.P443P Q9UHF4 I20RA_HUMAN interleukin 20 receptor, alpha 443 integral to membrane receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) GTAACGTTTGCGGGCCCAAGA 0.587000 5 350 0 0 1 0 0 NEK5 341676 broad.mit.edu 37 13 52661584 52661584 + Missense_Mutation SNP G G A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr13:52661584G>A ENST00000355568.4 - 15 1421 c.1282C>T c.(1282-1284)Cgt>Tgt p.R428C NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 428 ATP binding|metal ion binding|protein serine/threonine kinase activity p.R485G(1)|p.R428G(1) breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) GAAGATGGACGAAGACCCTAT 0.343000 18 399 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr9:20414346G>A ENST00000380338.4 - 5 784 c.498C>T c.(496-498)agC>agT p.S166S MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S166S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.527000 T MLL ALL 7 412 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24505322 24505322 + Missense_Mutation SNP A A G TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr5:24505322A>G ENST00000264463.4 - 8 1799 c.1292T>C c.(1291-1293)aTc>aCc p.I431T NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 431 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) AATGTTAAAGATTCTGTCAAG 0.368000 HNSCC(23;0.051) 16 249 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661272 22661272 + RNA SNP C C T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr22:22661272C>T ENST00000426066.1 + 0 360 NR_027293.1 CTGGGATGTACGTCTGCGTTG 0.488000 10 302 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114277476 114277476 + Missense_Mutation SNP T T G TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr4:114277476T>G ENST00000357077.4 + 38 7755 c.7702T>G c.(7702-7704)Tgt>Ggt p.C2568G ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.C2535G|ANK2_ENST00000394537.3_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2535 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GATTCATGAATGTGCAGAGGA 0.433000 53 576 0 0 1 0 0 ANKRD50 57182 broad.mit.edu 37 4 125592599 125592599 + Silent SNP A A G TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr4:125592599A>G ENST00000504087.1 - 4 2870 c.1833T>C c.(1831-1833)ggT>ggC p.G611G ANKRD50_ENST00000515641.1_Silent_p.G432G NM_020337.2 NP_065070.1 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 611 NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 55 ATGCTGTCCAACCATCTTGAT 0.453000 19 492 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195398245 195398245 + RNA SNP G G A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr3:195398245G>A ENST00000445430.1 + 0 1088 TTTCAGCACCGCTCGCCCTCA 0.577000 5 99 0 0 1 0 0 POF1B 79983 broad.mit.edu 37 X 84560887 84560887 + Silent SNP C C T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chrX:84560887C>T ENST00000262753.4 - 13 1492 c.1347G>A c.(1345-1347)ttG>ttA p.L449L POF1B_ENST00000373145.3_Silent_p.L449L NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 449 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 TTTTAGCCTGCAACATTGGGC 0.388000 27 416 0 0 1 0 0 IMPDH1 3614 broad.mit.edu 37 7 128035057 128035057 + Missense_Mutation SNP G G A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr7:128035057G>A ENST00000338791.6 - 14 1786 c.1436C>T c.(1435-1437)aCg>aTg p.T479M IMPDH1_ENST00000480861.1_Missense_Mutation_p.T389M|IMPDH1_ENST00000496200.1_Missense_Mutation_p.T369M|IMPDH1_ENST00000470772.1_Missense_Mutation_p.T393M|IMPDH1_ENST00000419067.2_Missense_Mutation_p.T446M|IMPDH1_ENST00000378717.4_Missense_Mutation_p.T410M|IMPDH1_ENST00000354269.5_Missense_Mutation_p.T469M|IMPDH1_ENST00000343214.4_Missense_Mutation_p.T369M|IMPDH1_ENST00000348127.6_Missense_Mutation_p.T443M NM_000883.3 NP_000874.2 P20839 IMDH1_HUMAN IMP (inosine 5'-monophosphate) dehydrogenase 1 394 GMP biosynthetic process|purine base metabolic process cytosol|nucleus DNA binding|IMP dehydrogenase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3) 22 Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352) AGGGGCCTCCGTAGTGGCGGC 0.642000 28 467 0 0 1 0 0 MT1B 4490 broad.mit.edu 37 16 56686964 56686964 + Missense_Mutation SNP G G A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr16:56686964G>A ENST00000334346.2 + 3 228 c.173G>A c.(172-174)cGc>cAc p.R58H MT1B_ENST00000562399.1_Silent_p.P57P NM_005947.2 NP_005938.1 P07438 MT1B_HUMAN metallothionein 1B 58 Alpha. cytoplasm cadmium ion binding|copper ion binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(1)|ovary(1) 4 GAGAAGTGCCGCTGCTGTGCC 0.542000 42 496 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 71054178 71054178 + Missense_Mutation SNP T T C rs117718337 TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr16:71054178T>C ENST00000393567.2 - 22 3379 c.3229A>G c.(3229-3231)Ata>Gta p.I1077V HYDIN_ENST00000448089.2_Missense_Mutation_p.I1029V NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1077 I -> V (in dbSNP:rs6416709). p.I1077V(3)|p.I1029V(3) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) ATGTTCTTTATGGCCAAGGGC 0.418000 5 220 0 0 1 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 11 477 0 0 1 0 0 WNT7A 7476 broad.mit.edu 37 3 13860786 13860786 + Silent SNP G G A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr3:13860786G>A ENST00000285018.4 - 4 1009 c.705C>T c.(703-705)gcC>gcT p.A235A NM_004625.3 NP_004616.2 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, member 7A 235 activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 24 CCACGTGAACGGCCTCGTTGT 0.622000 17 443 0 0 1 0 0 NCOR1P1 0 broad.mit.edu 37 20 26084296 26084296 + RNA SNP A A G rs61752037 by1000genomes TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr20:26084296A>G ENST00000478176.1 - 0 161 NR_003678.1 p.F40F(1) GTTTGCCTCCAAATGCTGGAT 0.378000 9 334 0 0 1 0 0 CDK6 1021 broad.mit.edu 37 7 92462588 92462588 + Missense_Mutation SNP G G T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr7:92462588G>T ENST00000265734.4 - 2 461 c.50C>A c.(49-51)gCg>gAg p.A17E CDK6_ENST00000424848.2_Missense_Mutation_p.A17E NM_001259.6 NP_001250.1 Q00534 CDK6_HUMAN cyclin-dependent kinase 6 17 Protein kinase. cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle ATP binding|cyclin binding|cyclin-dependent protein kinase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1) 11 all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237) STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) CCCGATCTCCGCCACGCATTC 0.721000 T MLLT10 ALL 4 61 3.59834e-05 3.6749e-05 1 1 0 RGPD4 285190 broad.mit.edu 37 2 108487966 108487966 + Missense_Mutation SNP A A G rs832357 TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr2:108487966A>G ENST00000408999.3 + 20 3583 c.3506A>G c.(3505-3507)cAg>cGg p.Q1169R RGPD4_ENST00000354986.4_Missense_Mutation_p.Q1169R NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1169 RanBD1 1. intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 GAATGCCAGCAGCTTCTGTTA 0.428000 7 449 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 12 188 0 0 1 0 0 MT1L 4500 broad.mit.edu 37 16 56652635 56652635 + RNA SNP C C A rs61732351 by1000genomes TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr16:56652635C>A ENST00000565768.1 + 0 316 NR_001447.2 metallothionein 1L (gene/pseudogene) GAGCAACCTGCACAAACCTGG 0.468000 6 371 0.0215528 0.0215528 1 1 0 AC024560.3 0 broad.mit.edu 37 3 197348634 197348634 + RNA SNP G G C TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr3:197348634G>C ENST00000418868.1 - 0 625 NR_003266.2 CAGCAGCACCGATGGGCCTGC 0.542000 7 446 0 0 1 0 0 KIAA1967 0 broad.mit.edu 37 8 22473260 22473260 + Silent SNP C C T rs151294361 byFrequency TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr8:22473260C>T ENST00000308511.4 + 13 1692 c.1443C>T c.(1441-1443)aaC>aaT p.N481N RP11-582J16.5_ENST00000521025.1_RNA|KIAA1967_ENST00000520861.1_Silent_p.N156N|KIAA1967_ENST00000389279.3_Silent_p.N481N Q8N163 K1967_HUMAN 481 apoptosis|positive regulation of apoptosis mitochondrial matrix|nucleus enzyme binding|enzyme inhibitor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5) 25 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) CTAGACGGAACGCAGAAACTC 0.587000 5 304 0 0 1 0 0 HRASLS 57110 broad.mit.edu 37 3 192988436 192988436 + Missense_Mutation SNP T T A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr3:192988436T>A ENST00000264735.2 + 4 858 c.764T>A c.(763-765)gTt>gAt p.V255D HRASLS_ENST00000602513.1_Missense_Mutation_p.V150D NM_020386.4 NP_065119.2 Q9HDD0 HRSL1_HUMAN HRAS-like suppressor 150 breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2) 10 all_cancers(143;9.1e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000159) ACAGCTGCTGTTGGTGTCTTC 0.378000 13 381 0 0 1 0 0 OR2L3 391192 broad.mit.edu 37 1 248224819 248224819 + Missense_Mutation SNP C C T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr1:248224819C>T ENST00000359959.3 + 1 836 c.836C>T c.(835-837)aCc>aTc p.T279I OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 279 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TTCTACACCACCCTCACTCCA 0.493000 8 406 0 0 1 0 0 CD226 10666 broad.mit.edu 37 18 67614045 67614045 + Missense_Mutation SNP C C T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr18:67614045C>T ENST00000280200.4 - 3 575 c.307G>A c.(307-309)Gtt>Att p.V103I CD226_ENST00000581982.1_Intron|CD226_ENST00000577287.1_Intron|CD226_ENST00000582621.1_Missense_Mutation_p.V103I NM_006566.2 NP_006557.2 Q15762 CD226_HUMAN CD226 molecule 103 Ig-like C2-type 1. cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target cell surface|integral to plasma membrane|membrane raft cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 24 Esophageal squamous(42;0.129) TAGTAGCCAACATCATCTTCA 0.418000 13 195 0 0 1 0 0 GAGE2A 729447 broad.mit.edu 37 X 49355893 49355893 + Missense_Mutation SNP C C G rs147803166 by1000genomes TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chrX:49355893C>G ENST00000362097.1 + 3 258 c.175C>G c.(175-177)Cag>Gag p.Q59E NM_001127212.1 NP_001120684.1 G antigen 2A p.Q59E(8) endometrium(4) 4 Ovarian(276;0.236) TCAGGAGGGACAGGATGAGGG 0.562000 14 706 0 0 1 0 0 GPLD1 2822 broad.mit.edu 37 6 24450108 24450108 + Missense_Mutation SNP G G A rs149093201 TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr6:24450108G>A ENST00000230036.1 - 15 1465 c.1355C>T c.(1354-1356)tCg>tTg p.S452L NM_001503.3 NP_001494.2 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific phospholipase D1 452 extracellular region glycosylphosphatidylinositol phospholipase D activity breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 32 AGCCAAGGCCGAGCCAAACCG 0.622000 46 310 0 0 1 0 0 LRRTM4 80059 broad.mit.edu 37 2 77746270 77746270 + Missense_Mutation SNP C C T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr2:77746270C>T ENST00000409088.3 - 3 1139 c.725G>A c.(724-726)cGc>cAc p.R242H LRRTM4_ENST00000409282.1_Missense_Mutation_p.R243H|LRRTM4_ENST00000409911.1_Missense_Mutation_p.R243H|LRRTM4_ENST00000409884.1_Missense_Mutation_p.R242H|LRRTM4_ENST00000409093.1_Missense_Mutation_p.R242H NM_024993.4 NP_079269.4 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 242 integral to membrane p.R242H(2) autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) GCTAATGGAGCGAATCCTGTT 0.448000 11 91 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123167847 123167847 + Missense_Mutation SNP T T C rs75923324 TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr4:123167847T>C ENST00000264501.4 + 34 5567 c.5194T>C c.(5194-5196)Tgt>Cgt p.C1732R KIAA1109_ENST00000455637.1_Missense_Mutation_p.C1732R|KIAA1109_ENST00000388738.3_Missense_Mutation_p.C1732R Q2LD37 K1109_HUMAN KIAA1109 1732 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 GGTAAACTTATGTTTGTTACA 0.358000 24 351 0 0 1 0 0 ASB2 51676 broad.mit.edu 37 14 94413764 94413764 + Missense_Mutation SNP G G A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr14:94413764G>A ENST00000555019.1 - 7 1413 c.983C>T c.(982-984)gCc>gTc p.A328V ASB2_ENST00000315988.4_Missense_Mutation_p.A280V|ASB2_ENST00000556337.1_Intron NM_001202429.1 NP_001189358.1 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box containing 2 280 intracellular signal transduction breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) GTTGGCGTCGGCACCCTGTGA 0.617000 5 373 0 0 1 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725572 32725572 + Silent SNP G G A rs116284473 byFrequency TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr6:32725572G>A ENST00000435145.2 - 4 796 c.735C>T c.(733-735)atC>atT p.I245I HLA-DQB2_ENST00000437316.2_Silent_p.I245I|HLA-DQB2_ENST00000411527.1_Intron Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 216 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 TGTGACGGATGATAAGGCCCA 0.557000 10 92 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29633900 29633900 + Missense_Mutation SNP A A G rs60081496 by1000genomes TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr20:29633900A>G ENST00000278882.3 + 9 919 c.539A>G c.(538-540)gAa>gGa p.E180G FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G p.E180G(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAAACAAGAGAACCAAATTGA 0.264000 15 364 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152552704 152552704 + Splice_Site SNP T T A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr6:152552704T>A ENST00000367255.5 - 114 21464 c.e114-2 SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTTAAAACCCTAAAAAAAAAG 0.338000 HNSCC(10;0.0054) 5 188 0 0 1 0 0 SPNS3 201305 broad.mit.edu 37 17 4356344 4356344 + Silent SNP C C T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr17:4356344C>T ENST00000355530.2 + 8 1237 c.957C>T c.(955-957)ggC>ggT p.G319G SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_Silent_p.G192G NM_182538.4 NP_872344.3 Q6ZMD2 SPNS3_HUMAN spinster homolog 3 (Drosophila) 319 lipid transport|transmembrane transport integral to membrane NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2) 28 TCATGACCGGCGTCATTGGGG 0.567000 21 488 0 0 1 0 0 MAP3K15 389840 broad.mit.edu 37 X 19392682 19392682 + Missense_Mutation SNP G G A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chrX:19392682G>A ENST00000338883.4 - 20 2685 c.2686C>T c.(2686-2688)Cgt>Tgt p.R896C MAP3K15_ENST00000359173.3_Missense_Mutation_p.R331C|MAP3K15_ENST00000469203.2_Missense_Mutation_p.R728C|MAP3K15_ENST00000518578.1_5'UTR NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 896 Protein kinase. ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) GTGGTGGCACGTTTGTGGGGG 0.537000 26 354 0 0 1 0 0 HERC2P3 0 broad.mit.edu 37 15 20644850 20644850 + RNA SNP G G A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr15:20644850G>A ENST00000428453.1 - 0 3097 p.A803V(4) central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 CATGTCCCTCGCCCTTTCGGT 0.463000 5 147 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 10 436 0 0 1 0 0 TCP10 6953 broad.mit.edu 37 6 167789546 167789546 + Missense_Mutation SNP C C T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr6:167789546C>T ENST00000366827.2 - 6 807 c.596G>A c.(595-597)cGa>cAa p.R199Q TCP10_ENST00000397829.4_Missense_Mutation_p.R199Q Q12799 TCP10_HUMAN t-complex 10 226 cytosol NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6) 18 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386) TTGCGGACTTCGGGAAGATGG 0.612000 4 162 0 0 1 0 0 GLRX 2745 broad.mit.edu 37 5 95152244 95152244 + Silent SNP C C T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr5:95152244C>T ENST00000379979.4 - 2 345 c.294G>A c.(292-294)cgG>cgA p.R98R GLRX_ENST00000505427.1_Silent_p.R98R|GLRX_ENST00000507605.1_5'UTR|GLRX_ENST00000237858.6_Silent_p.R98R|GLRX_ENST00000512469.2_Silent_p.R98R|GLRX_ENST00000508780.1_Silent_p.R98R NM_002064.2 NP_002055.1 P35754 GLRX1_HUMAN glutaredoxin (thioltransferase) 98 Glutaredoxin. cell redox homeostasis|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|transport cytosol electron carrier activity|glutathione disulfide oxidoreductase activity|protein disulfide oxidoreductase activity|protein N-terminus binding endometrium(3)|large_intestine(1)|lung(1) 5 all_cancers(142;3.38e-06)|all_epithelial(76;5.66e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;2.62e-16) Glutathione(DB00143) TCTGCTTTAGCCGCGTCAGCA 0.507000 5 225 0 0 1 0 0 VKORC1 79001 broad.mit.edu 37 16 31102595 31102595 + Missense_Mutation SNP C C A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr16:31102595C>A ENST00000319788.7 - 4 644 c.434G>T c.(433-435)tGt>tTt p.C145F VKORC1_ENST00000300851.6_Missense_Mutation_p.C138F|VKORC1_ENST00000394975.2_Missense_Mutation_p.V118F|VKORC1_ENST00000394971.3_Missense_Mutation_p.C149F|RP11-196G11.1_ENST00000529564.1_Intron|VKORC1_ENST00000498155.1_Missense_Mutation_p.C150F|VKORC1_ENST00000354895.4_Missense_Mutation_p.C81F Q9BQB6 VKOR1_HUMAN vitamin K epoxide reductase complex, subunit 1 0 peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane vitamin-K-epoxide reductase (warfarin-sensitive) activity lung(3)|urinary_tract(1) 4 Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682) GCCAGGTAGACAGAACCAGCG 0.557000 9 131 0.000274275 0.000278138 1 1 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr12:132547093A>G ENST00000333577.4 + 48 8398 c.8289A>G c.(8287-8289)caA>caG p.Q2763Q EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000389562.2_Silent_p.Q2726Q Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.567000 18 263 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr18:14513764C>T ENST00000358970.5 - 10 1429 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 477 p.R477Q(12) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAGTTGTTTCCGGGTATCATT 0.358000 7 199 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 7 91 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr16:90161926T>C ENST00000567960.1 + 0 662 TUBB8P7_ENST00000564451.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 13 158 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 428461 428461 + Missense_Mutation SNP C C G TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr9:428461C>G ENST00000432829.2 + 35 4550 c.4234C>G c.(4234-4236)Cac>Gac p.H1412D DOCK8_ENST00000453981.1_Missense_Mutation_p.H1480D|DOCK8_ENST00000382329.1_Missense_Mutation_p.H947D|DOCK8_ENST00000469391.1_Missense_Mutation_p.H1380D NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1480 DHR-2. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) CTACCTGACTCACTGCTTTGC 0.483000 12 181 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 21 258 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46279860 46279860 + Silent SNP G G A rs151060280 byFrequency TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr20:46279860G>A ENST00000372004.3 + 20 3990 c.3774G>A c.(3772-3774)caG>caA p.Q1258Q NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1262 Acetyltransferase.|Poly-Gln. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding p.Q1262Q(1) breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 agcagcagcagcagcaacagc 0.567000 7 297 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 16 193 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578235 7578235 + Missense_Mutation SNP T T A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr17:7578235T>A ENST00000420246.2 - 6 746 c.614A>T c.(613-615)tAt>tTt p.Y205F TP53_ENST00000455263.2_Missense_Mutation_p.Y205F|TP53_ENST00000359597.4_Missense_Mutation_p.Y205F|TP53_ENST00000413465.2_Missense_Mutation_p.Y205F|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.Y205F|TP53_ENST00000445888.2_Missense_Mutation_p.Y205F NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 205 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; 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.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(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) GTCATCCAAATACTCCACACG 0.542000 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) 19 182 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547138 132547138 + Silent SNP A A G rs35873108 byFrequency TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr12:132547138A>G ENST00000333577.4 + 48 8443 c.8334A>G c.(8332-8334)caA>caG p.Q2778Q EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000389562.2_Silent_p.Q2741Q Q96L91 EP400_HUMAN E1A binding protein p400 2778 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2741Q(3)|p.Q2742Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcaacagcagcagc 0.602000 5 273 0 0 1 0 0 CRKL 1399 broad.mit.edu 37 22 21272254 21272254 + Missense_Mutation SNP G G A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr22:21272254G>A ENST00000354336.3 + 1 541 c.32G>A c.(31-33)cGc>cAc p.R11H NM_005207.3 NP_005198.1 P46109 CRKL_HUMAN v-crk avian sarcoma virus CT10 oncogene homolog-like 11 JNK cascade|Ras protein signal transduction cytosol protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7) 14 all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176) TCCTCGGACCGCTCCGCCTGG 0.692000 4 157 0 0 1 0 0 ZNF286B 729288 broad.mit.edu 37 17 18565373 18565373 + Silent SNP A A G rs147985634 by1000genomes TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr17:18565373A>G ENST00000545289.1 - 5 1696 c.1446T>C c.(1444-1446)ctT>ctC p.L482L NM_001145045.1 NP_001138517.1 P0CG31 Z286B_HUMAN zinc finger protein 286B 482 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(1) 2 GATGTTGAATAAGAGCTGATG 0.388000 5 208 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 7 234 0 0 1 0 0 PCK2 5106 broad.mit.edu 37 14 24569250 24569250 + Silent SNP C C T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr14:24569250C>T ENST00000545054.2 + 7 1578 c.660C>T c.(658-660)gcC>gcT p.A220A PCK2_ENST00000561286.1_Silent_p.A220A|NRL_ENST00000561028.1_Intron|PCK2_ENST00000396973.4_Silent_p.A354A|PCK2_ENST00000216780.4_Silent_p.A354A|PCK2_ENST00000559250.1_Silent_p.A366A|PCK2_ENST00000558096.1_Silent_p.A220A Q16822 PCKGM_HUMAN phosphoenolpyruvate carboxykinase 2 (mitochondrial) 354 gluconeogenesis mitochondrial matrix GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(265;0.0184) TTGGGGTTGCCCCTGGTACCT 0.502000 101 654 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871064 170871064 + Silent SNP G G A rs112748399 TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr6:170871064G>A ENST00000392092.2 + 3 519 c.240G>A c.(238-240)caG>caA p.Q80Q TBP_ENST00000230354.6_Silent_p.Q80Q|TBP_ENST00000540980.1_Silent_p.Q60Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 80 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.577000 8 265 0 0 1 0 0 GPR174 84636 broad.mit.edu 37 X 78426854 78426854 + Missense_Mutation SNP T T A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chrX:78426854T>A ENST00000276077.1 + 1 386 c.350T>A c.(349-351)tTt>tAt p.F117Y NM_032553.1 NP_115942.1 Q9BXC1 GP174_HUMAN G protein-coupled receptor 174 117 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 38 GTGCGACGATTTTGGTTTCTC 0.468000 HNSCC(63;0.18) 60 710 0 0 1 0 0 TRIM48 79097 broad.mit.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr11:55035844T>C ENST00000417545.2 + 4 660 c.574T>C c.(574-576)Tac>Cac p.Y192H NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 176 intracellular zinc ion binding p.Y192H(11)|p.Y176H(11) endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 AGACATATTATACAGGTGAGT 0.338000 8 215 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661362 22661362 + RNA SNP C C T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr22:22661362C>T ENST00000426066.1 + 0 360 NR_027293.1 TGGGCAACAGCGAGGGAAATG 0.502000 6 328 0 0 1 0 0 CDKN2AIP 55602 broad.mit.edu 37 4 184368445 184368445 + Silent SNP C C T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr4:184368445C>T ENST00000504169.1 + 3 1815 c.1608C>T c.(1606-1608)ctC>ctT p.L536L CDKN2AIP_ENST00000302350.4_3'UTR NM_017632.2 NP_060102.1 Q9NXV6 CARF_HUMAN CDKN2A interacting protein 536 DRBM. negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability granular component|nucleoplasm double-stranded RNA binding|p53 binding endometrium(1)|kidney(2)|large_intestine(2)|lung(1) 6 all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) AGTTATTTCTCAAGAAAAAGG 0.383000 33 442 0 0 1 0 0 PSG4 5672 broad.mit.edu 37 19 43702149 43702149 + Splice_Site SNP G G A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr19:43702149G>A ENST00000405312.3 - 3 946 c.709_splice c.e3+1 p.P237_splice PSG4_ENST00000433626.2_Intron|PSG4_ENST00000244295.9_Splice_Site_p.H237_splice NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 237 Ig-like C2-type 2. defense response|female pregnancy extracellular region p.P237T(1)|p.H237N(1) central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) GGATACTCACGGAGGAGATTC 0.527000 84 1125 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887606 12887606 + Missense_Mutation SNP C C G rs58074988 TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr1:12887606C>G ENST00000535591.1 - 3 446 c.251G>C c.(250-252)tGc>tCc p.C84S NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 84 p.C84S(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 ATTGAGGAAGCACCCATGGGC 0.483000 10 1126 0 0 1 0 0 MST1L 0 broad.mit.edu 37 1 17083808 17083808 + RNA SNP G G A rs140260478 TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr1:17083808G>A ENST00000455405.2 - 0 780 GCGACCTTGTGCATACTCGGT 0.562000 5 110 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871070 170871070 + Silent SNP G G A rs142508797 byFrequency TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr6:170871070G>A ENST00000392092.2 + 3 525 c.246G>A c.(244-246)caG>caA p.Q82Q TBP_ENST00000230354.6_Silent_p.Q82Q|TBP_ENST00000540980.1_Silent_p.Q62Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 82 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.587000 9 267 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 22 443 0 0 1 0 0 CDK6 1021 broad.mit.edu 37 7 92462589 92462589 + Missense_Mutation SNP C C T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr7:92462589C>T ENST00000265734.4 - 2 460 c.49G>A c.(49-51)Gcg>Acg p.A17T CDK6_ENST00000424848.2_Missense_Mutation_p.A17T NM_001259.6 NP_001250.1 Q00534 CDK6_HUMAN cyclin-dependent kinase 6 17 Protein kinase. cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle ATP binding|cyclin binding|cyclin-dependent protein kinase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1) 11 all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237) STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) CCGATCTCCGCCACGCATTCG 0.721000 T MLLT10 ALL 4 60 0 0 1 0 0 CCDC88B 283234 broad.mit.edu 37 11 64116904 64116904 + Silent SNP G G C TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr11:64116904G>C ENST00000356786.5 + 15 2762 c.2718G>C c.(2716-2718)ctG>ctC p.L906L CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000359902.2_Silent_p.L58L NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 906 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 AGGAATTTCTGCGAGAAAAGG 0.652000 12 91 0 0 1 0 0 AJAP1 55966 broad.mit.edu 37 1 4772583 4772585 + In_Frame_Del DEL CCA CCA - rs141981296 byFrequency TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr1:4772583_4772585delCCA ENST00000378191.4 + 2 1034_1036 c.653_655delCCA c.(652-657)gcc>g p.AT218del AJAP1_ENST00000378190.3_In_Frame_Del_p.AT218del NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 218 Thr-rich. cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane p.T225_A226insT(1) endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) ACTGTGGccgccaccaccaccac 0.635 7 135 --- --- --- --- KCNAB2 8514 broad.mit.edu 37 1 6157439 6157439 + Frame_Shift_Del DEL G G - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr1:6157439delG ENST00000602612.1 + 15 1214 c.1036delG c.(1036-1038)ggfs p.G346fs KCNAB2_ENST00000164247.1_Intron|KCNAB2_ENST00000458166.2_Intron|KCNAB2_ENST00000378083.3_Intron|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000378097.1_Intron|KCNAB2_ENST00000352527.1_Intron|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000378092.1_Intron|KCNAB2_ENST00000341524.1_Intron Q13303 KCAB2_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 2 0 cytoplasm|integral to membrane|juxtaparanode region of axon oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity large_intestine(1)|lung(4)|skin(3) 8 Ovarian(185;0.0634) all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211) Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649) AGGCCCTGCTGGGCAGAGGGC 0.637 2 4 --- --- --- --- PHF13 148479 broad.mit.edu 37 1 6680069 6680071 + In_Frame_Del DEL GAA GAA - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr1:6680069_6680071delGAA ENST00000377648.4 + 3 730_732 c.348_350delGAA c.(346-351)ctg>ct p.LK116del PHF13_ENST00000495385.1_Intron NM_153812.2 NP_722519.2 Q86YI8 PHF13_HUMAN PHD finger protein 13 116 cell division|chromatin modification|mitotic chromosome condensation nucleoplasm chromatin binding|methylated histone residue binding|zinc ion binding endometrium(3)|large_intestine(1)|lung(3) 7 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642) cggacaagctgaagaagaagaag 0.576 7 340 --- --- --- --- CYP4Z2P 0 broad.mit.edu 37 1 47325282 47325282 + RNA DEL A A - rs10712628 TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr1:47325282delA ENST00000505841.1 - 0 1204 NR_002788.2 ATTTCAATCCAAACATAGCTG 0.393 8 173 --- --- --- --- ANKRD20A12P 0 broad.mit.edu 37 1 142716575 142716578 + RNA DEL AAAC AAAC - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr1:142716575_142716578delAAAC ENST00000595144.1 - 0 418 catctcagaaaaacaaacaaacaa 0.422 9 287 --- --- --- --- HFE2 148738 broad.mit.edu 37 1 145415369 145415371 + In_Frame_Del DEL GAG GAG - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr1:145415369_145415371delGAG ENST00000336751.5 + 3 426_428 c.188_190delGAG c.(187-192)cga>c p.RG63del HFE2_ENST00000357836.5_5'UTR|HFE2_ENST00000475797.1_Intron|HFE2_ENST00000497365.1_Intron NM_213653.3 NP_998818.1 Q6ZVN8 RGMC_HUMAN hemochromatosis type 2 (juvenile) 63 axon guidance anchored to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 14 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGAGCACTTCGAGGAGGAGGAGG 0.626 7 344 --- --- --- --- CELF3 11189 broad.mit.edu 37 1 151678723 151678725 + In_Frame_Del DEL TGC TGC - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr1:151678723_151678725delTGC ENST00000290583.4 - 10 1894_1896 c.1101_1103delGCA c.(1099-1104)caa>ca p.QQ371del CELF3_ENST00000290585.4_In_Frame_Del_p.QQ321del|CELF3_ENST00000392706.3_In_Frame_Del_p.QQ166del|CELF3_ENST00000470688.1_5'UTR|RP11-98D18.1_ENST00000457548.1_RNA NM_001172648.1|NM_007185.4 NP_001166119.1|NP_009116.3 Q5SZQ8 CELF3_HUMAN CUGBP, Elav-like family member 3 371 Gln-rich. nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus mRNA binding|nucleotide binding p.Q367Q(1) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1) 21 ctgctgctgttgctgctgctgct 0.660 7 68 --- --- --- --- ISG20L2 81875 broad.mit.edu 37 1 156694023 156694023 + Frame_Shift_Del DEL G G - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr1:156694023delG ENST00000313146.6 - 2 1647 c.865delC c.(865-867)tcfs p.L289fs ISG20L2_ENST00000368219.1_Frame_Shift_Del_p.L289fs|ISG20L2_ENST00000472824.1_5'UTR NM_030980.1 NP_112242.1 Q9H9L3 I20L2_HUMAN interferon stimulated exonuclease gene 20kDa-like 2 289 Exonuclease. ribosome biogenesis nucleolus exonuclease activity|nucleic acid binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 16 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TTCCGGTTGAGGGGGGGGATA 0.557 7 446 --- --- --- --- SMG7 9887 broad.mit.edu 37 1 183515266 183515267 + Frame_Shift_Ins INS - - A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr1:183515266_183515267insA ENST00000367537.3 + 18 2680_2681 c.2485_2486insA c.(2485-2487)aaafs p.K829fs SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs|SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 846 Gln/Pro-rich. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding p.?(1) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 GCAGCCTCTAGAAAAAAAAATG 0.450 8 405 --- --- --- --- PRG4 10216 broad.mit.edu 37 1 186276542 186276544 + In_Frame_Del DEL CTC CTC - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr1:186276542_186276544delCTC ENST00000445192.2 + 7 1736_1738 c.1691_1693delCTC c.(1690-1695)acc>a p.TP564del PRG4_ENST00000367483.4_In_Frame_Del_p.TP523del|PRG4_ENST00000367485.4_In_Frame_Del_p.TP471del|PRG4_ENST00000367486.3_In_Frame_Del_p.TP521del|PRG4_ENST00000367484.3_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 564 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 GCACCCACCACTCCCAAGGAGCC 0.640 13 776 --- --- --- --- GPR37L1 9283 broad.mit.edu 37 1 202097525 202097527 + In_Frame_Del DEL CTG CTG - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr1:202097525_202097527delCTG ENST00000367282.4 + 2 1393_1395 c.1287_1289delCTG c.(1285-1290)gac>ga p.DC429del NM_004767.3 NP_004758.3 O60883 ETBR2_HUMAN G protein-coupled receptor 37 like 1 429 Cys-rich. integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 18 CCTTCCTGGActgctgctgctgc 0.626 8 161 --- --- --- --- PTPN14 5784 broad.mit.edu 37 1 214557049 214557051 + In_Frame_Del DEL CCT CCT - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr1:214557049_214557051delCCT ENST00000366956.5 - 13 2341_2343 c.2147_2149delAGG c.(2146-2151)gct>g p.EA716del PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 716 Poly-Glu. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding p.E716delE(1) NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GATTCTGGAGCCTCCTCCTCCTC 0.626 9 281 --- --- --- --- CENPF 1063 broad.mit.edu 37 1 214818826 214818826 + Frame_Shift_Del DEL A A - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr1:214818826delA ENST00000366955.3 + 13 6081 c.5913delA c.(5911-5913)tcfs p.S1971fs NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 2067 cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) ATACTATGTCAAAAAAAACCA 0.408 7 376 --- --- --- --- ARV1 64801 broad.mit.edu 37 1 231131567 231131567 + Frame_Shift_Del DEL A A - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr1:231131567delA ENST00000310256.2 + 4 567 c.510delA c.(508-510)gcfs p.A170fs ARV1_ENST00000366658.2_Frame_Shift_Del_p.A130fs|ARV1_ENST00000497753.1_3'UTR NM_022786.1 NP_073623.1 Q9H2C2 ARV1_HUMAN ARV1 homolog (S. cerevisiae) 170 sphingolipid metabolic process integral to membrane breast(3)|large_intestine(2)|lung(2) 7 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233) CCATGACGGCAAAAAAAAAGC 0.383 13 293 --- --- --- --- MTR 4548 broad.mit.edu 37 1 237024474 237024474 + Frame_Shift_Del DEL A A - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr1:237024474delA ENST00000366577.5 + 20 2487 c.2093delA c.(2092-2094)cafs p.Q698fs MTR_ENST00000535889.1_Intron NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 698 B12-binding N-terminal. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) AGGTTAAACCAAAAAAAATAT 0.308 7 306 --- --- --- --- DHX57 90957 broad.mit.edu 37 2 39095411 39095413 + In_Frame_Del DEL CCA CCA - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr2:39095411_39095413delCCA ENST00000295373.6 - 2 261_263 c.135_137delTGG c.(133-138)gga>gg p.GG47del NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 47 Gly-rich. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) Gccgccacctccaccaccaccac 0.532 9 431 --- --- --- --- RTN4 57142 broad.mit.edu 37 2 55253745 55253746 + Frame_Shift_Ins INS - - T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr2:55253745_55253746insT ENST00000337526.6 - 3 1732_1733 c.1489_1490insA c.(1489-1491)agafs p.R497fs RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000404909.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000405240.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000394611.2_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000357376.3_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000354474.6_Frame_Shift_Ins_p.R265fs|RTN4_ENST00000357732.4_Intron NM_020532.4 NP_065393.1 Q9NQC3 RTN4_HUMAN reticulon 4 497 apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36 CTTTTCTTCTATTTTTTTTTCA 0.381 8 536 --- --- --- --- AFTPH 54812 broad.mit.edu 37 2 64778672 64778674 + In_Frame_Del DEL GAT GAT - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr2:64778672_64778674delGAT ENST00000422803.1 + 2 378_380 c.64_66delGAT c.(64-66)del p.D26del AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del Q6ULP2 AFTIN_HUMAN aftiphilin 26 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 TGGAGCAGAGGATGATGATGATG 0.409 9 820 --- --- --- --- ANKRD36BP2 0 broad.mit.edu 37 2 89082220 89082223 + RNA DEL TGAT TGAT - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr2:89082220_89082223delTGAT ENST00000393525.3 + 0 474 TGTGTACATATGATTGATTATGTA 0.328 7 139 --- --- --- --- ANKRD20A8P 0 broad.mit.edu 37 2 95513688 95513689 + RNA INS - - TA TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr2:95513688_95513689insTA ENST00000432432.2 - 0 850 NR_040113.1 CTCACCTAATGTATAAGATGGA 0.327 23 533 --- --- --- --- TMEM131 23505 broad.mit.edu 37 2 98427639 98427639 + Frame_Shift_Del DEL T T - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr2:98427639delT ENST00000186436.5 - 18 2148 c.1920delA c.(1918-1920)aafs p.K640fs NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 640 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 TCCCCTCTAATTTTTTTGCAG 0.393 9 1222 --- --- --- --- MLTK 0 broad.mit.edu 37 2 174097115 174097117 + In_Frame_Del DEL GCT GCT - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr2:174097115_174097117delGCT ENST00000375213.3 + 14 1209_1211 c.1131_1133delGCT c.(1129-1134)cgg>cg p.RL377del MLTK_ENST00000409176.2_In_Frame_Del_p.RL377del|MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA NM_016653.2 NP_057737.2 CAGGGAAGCGGCTGCTGCTGCTG 0.433 7 1159 --- --- --- --- DNAH7 56171 broad.mit.edu 37 2 196788374 196788374 + Frame_Shift_Del DEL T T - rs140194798 TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr2:196788374delT ENST00000312428.6 - 23 3870 c.3770delA c.(3769-3771)atfs p.N1257fs NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1257 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ATCGCTAATATTTTTTTTTAC 0.418 7 252 --- --- --- --- SGOL2 151246 broad.mit.edu 37 2 201437003 201437004 + Frame_Shift_Ins INS - - T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr2:201437003_201437004insT ENST00000357799.4 + 7 2032_2033 c.1934_1935insT c.(1933-1935)attfs p.I645fs NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 645 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 AAAAAAGGTAATTTTTTTTTCA 0.337 12 597 --- --- --- --- ALS2CR11 151254 broad.mit.edu 37 2 202352352 202352352 + Frame_Shift_Del DEL T T - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr2:202352352delT ENST00000439140.1 - 16 5490 c.5446delA c.(5446-5448)ttfs p.I1816fs ALS2CR11_ENST00000286195.3_Frame_Shift_Del_p.I619fs|ALS2CR11_ENST00000439802.1_3'UTR NM_001168221.1 NP_001161693.1 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 619 NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3) 33 CCTCTTTTAATTTTTTTTGGC 0.323 10 460 --- --- --- --- SLC4A3 6508 broad.mit.edu 37 2 220496799 220496801 + In_Frame_Del DEL GAA GAA - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr2:220496799_220496801delGAA ENST00000358055.3 + 7 1433_1435 c.921_923delGAA c.(919-924)agg>ag p.RK307del SLC4A3_ENST00000317151.3_In_Frame_Del_p.RK307del|SLC4A3_ENST00000273063.6_In_Frame_Del_p.RK334del|SLC4A3_ENST00000373760.2_In_Frame_Del_p.RK307del|SLC4A3_ENST00000373762.3_In_Frame_Del_p.RK334del|SLC4A3_ENST00000497589.1_3'UTR P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 307 bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCCTTCGCAGGAAGAAGAAGAAG 0.650 10 381 --- --- --- --- EFHD1 80303 broad.mit.edu 37 2 233546363 233546365 + In_Frame_Del DEL GGA GGA - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr2:233546363_233546365delGGA ENST00000264059.3 + 4 1131_1133 c.654_656delGGA c.(652-657)cgg>cg p.RE218del EFHD1_ENST00000410095.1_In_Frame_Del_p.RE106del|EFHD1_ENST00000409613.1_In_Frame_Del_p.RE122del|EFHD1_ENST00000409708.1_In_Frame_Del_p.RE106del NM_025202.3 NP_079478.1 Q9BUP0 EFHD1_HUMAN EF-hand domain family, member D1 218 calcium ion binding|protein binding NS(1)|breast(1)|large_intestine(2)|lung(3) 7 all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025) Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101) AGCGGAAGCGGGAGGAGGAGGAG 0.547 9 516 --- --- --- --- TMEM40 55287 broad.mit.edu 37 3 12790198 12790200 + In_Frame_Del DEL GAG GAG - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr3:12790198_12790200delGAG ENST00000314124.7 - 3 521_523 c.165_167delCTC c.(163-168)tct>tc p.SS69del TMEM40_ENST00000435218.2_In_Frame_Del_p.SS69del|TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000431022.2_In_Frame_Del_p.SS85del|TMEM40_ENST00000264728.8_In_Frame_Del_p.SS69del NM_018306.2 NP_060776.2 Q8WWA1 TMM40_HUMAN transmembrane protein 40 69 Ser-rich. integral to membrane breast(1)|large_intestine(3)|lung(5)|urinary_tract(1) 10 tgaggaggaagaggaggaggagg 0.419 10 942 --- --- --- --- DBR1 51163 broad.mit.edu 37 3 137880744 137880746 + In_Frame_Del DEL TCA TCA - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr3:137880744_137880746delTCA ENST00000260803.4 - 8 1773_1775 c.1620_1622delTGA c.(1618-1623)gac>ga p.DD540del DBR1_ENST00000505015.2_In_Frame_Del_p.DD306del NM_016216.3 NP_057300.2 Q9UK59 DBR1_HUMAN debranching RNA lariats 1 540 nucleus metal ion binding|RNA lariat debranching enzyme activity NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 AGCTGCATCGTCATCATCATCAT 0.399 11 592 --- --- --- --- VEPH1 79674 broad.mit.edu 37 3 157081226 157081227 + Frame_Shift_Ins INS - - T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr3:157081226_157081227insT ENST00000362010.2 - 9 1968_1969 c.1661_1662insA c.(1660-1662)actfs p.T554fs VEPH1_ENST00000392833.2_Frame_Shift_Ins_p.T554fs|VEPH1_ENST00000543418.1_Frame_Shift_Ins_p.T554fs|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392832.2_Frame_Shift_Ins_p.T554fs NM_001167912.1 NP_001161384.1 Q14D04 MELT_HUMAN ventricular zone expressed PH domain-containing 1 554 plasma membrane autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) CTTTGCTGAGGTTTTTTTTTAA 0.396 10 937 --- --- --- --- OTOP1 133060 broad.mit.edu 37 4 4204225 4204229 + Frame_Shift_Del DEL TTGAG TTGAG - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr4:4204225_4204229delTTGAG ENST00000296358.4 - 4 700_704 c.676_680delCTCAA c.(676-681)tfs p.LN226fs NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 226 biomineral tissue development extracellular space|integral to membrane p.L226fs*1(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CTTGTGCTCATTGAGTTGGTGCTTT 0.502 13 511 --- --- --- --- UGDH 7358 broad.mit.edu 37 4 39515752 39515753 + Frame_Shift_Ins INS - - A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr4:39515752_39515753insA ENST00000316423.6 - 3 556_557 c.214_215insT c.(214-216)tacfs p.Y72fs UGDH_ENST00000507089.1_5'UTR|UGDH_ENST00000501493.2_Frame_Shift_Ins_p.Y72fs|UGDH_ENST00000506179.1_Frame_Shift_Ins_p.Y72fs|UGDH_ENST00000515398.1_5'UTR NM_001184701.1|NM_003359.3 NP_001171630.1|NP_003350.1 O60701 UGDH_HUMAN UDP-glucose 6-dehydrogenase 72 glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity p.S72fs*18(1) breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2) 27 NADH(DB00157) AATATTGGTAGAAAAAAAAAGA 0.297 9 336 --- --- --- --- RP11-453E17.1 0 broad.mit.edu 37 4 68632418 68632419 + RNA INS - - ACACACAT rs59536241 by1000genomes TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr4:68632418_68632419insACACACAT ENST00000500538.2 + 0 1905 RP11-453E17.1_ENST00000502758.1_RNA cacacacacacaTATATATAct 0.431 12 21 --- --- --- --- SULT1B1 27284 broad.mit.edu 37 4 70599153 70599153 + Frame_Shift_Del DEL A A - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr4:70599153delA ENST00000310613.2 - 6 872 c.575delT c.(574-576)tgfs p.L192fs NM_014465.3 NP_055280.2 O43704 ST1B1_HUMAN sulfotransferase family, cytosolic, 1B, member 1 192 3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process cytosol breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1) 24 TTCATAGTACAAAAAAAGTAT 0.348 7 770 --- --- --- --- CXXC4 80319 broad.mit.edu 37 4 105412465 105412467 + In_Frame_Del DEL GCC GCC - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr4:105412465_105412467delGCC ENST00000394767.2 - 2 943_945 c.493_495delGGC c.(493-495)del p.G165del AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000426831.1_5'UTR|CXXC4_ENST00000466963.1_Intron NM_025212.2 NP_079488.2 Q9H2H0 CXXC4_HUMAN CXXC finger protein 4 0 Interaction with DVL1 (By similarity). negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) TGGTCCTgctgccgccgccgccg 0.695 7 417 --- --- --- --- MAML3 55534 broad.mit.edu 37 4 140810639 140810641 + In_Frame_Del DEL GCT GCT - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr4:140810639_140810641delGCT ENST00000509479.2 - 2 2805_2807 c.1949_1951delAGC c.(1948-1953)ccg>c p.QP650del MAML3_ENST00000398940.1_In_Frame_Del_p.QP178del|MAML3_ENST00000327122.5_In_Frame_Del_p.QP494del NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 646 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) GGAGGTGGCGgctgctgctgctg 0.586 10 332 --- --- --- --- HMGB2 3148 broad.mit.edu 37 4 174253277 174253279 + In_Frame_Del DEL TCC TCC - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr4:174253277_174253279delTCC ENST00000296503.5 - 5 1455_1457 c.582_584delGGA c.(580-585)gaa>ga p.EE196del HMGB2_ENST00000446922.2_In_Frame_Del_p.EE196del|HMGB2_ENST00000438704.2_In_Frame_Del_p.EE196del P26583 HMGB2_HUMAN high mobility group box 2 196 Asp/Glu-rich (acidic). base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding p.E194E(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3) 14 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) atcttcttcttcctcctcctcct 0.468 8 435 --- --- --- --- AGGF1 55109 broad.mit.edu 37 5 76358966 76358967 + Frame_Shift_Ins INS - - A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr5:76358966_76358967insA ENST00000312916.7 + 14 2416_2417 c.2034_2035insA c.(2032-2037)aaaaaafs p.KK678fs NM_018046.4 NP_060516.2 Q8N302 AGGF1_HUMAN angiogenic factor with G patch and FHA domains 1 678 angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis extracellular region|perinuclear region of cytoplasm eukaryotic cell surface binding|nucleic acid binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2) 20 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41) AAAACAAGAACAAAAAAAACTG 0.465 8 1131 --- --- --- --- RANBP9 10048 broad.mit.edu 37 6 13632610 13632610 + Frame_Shift_Del DEL T T - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr6:13632610delT ENST00000011619.3 - 12 1997 c.1939delA c.(1939-1941)tgfs p.M647fs NOL7_ENST00000474485.1_Intron|RANBP9_ENST00000469916.1_5'UTR|RANBP9_ENST00000539980.1_Frame_Shift_Del_p.M418fs NM_005493.2 NP_005484.2 Q96S59 RANB9_HUMAN RAN binding protein 9 647 Interaction with FMR1. axon guidance|microtubule nucleation|protein complex assembly cytosol|microtubule associated complex|nucleus Ran GTPase binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 16 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.223) ACCTTCAACATTTTTTTGTTT 0.378 7 716 --- --- --- --- SLC17A2 10246 broad.mit.edu 37 6 25921520 25921520 + Frame_Shift_Del DEL T T - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr6:25921520delT ENST00000377850.3 - 4 885 c.361delA c.(361-363)tgfs p.M121fs SLC17A2_ENST00000360488.3_Frame_Shift_Del_p.M121fs|SLC17A2_ENST00000265425.3_Frame_Shift_Del_p.M121fs O00624 NPT3_HUMAN solute carrier family 17, member 2 121 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity p.M121fs*7(1) endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 GCACCAAGCATTTTTTTTGCT 0.453 12 419 --- --- --- --- BTN2A3P 0 broad.mit.edu 37 6 26422388 26422390 + RNA DEL CCT CCT - rs113134648 TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr6:26422388_26422390delCCT ENST00000466808.2 + 0 42_44 GGCCAGCCTCCCTCCTCCTCCTC 0.586 7 579 --- --- --- --- CYP21A1P 0 broad.mit.edu 37 6 31975223 31975224 + RNA INS - - T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr6:31975223_31975224insT ENST00000342991.6 + 0 1346_1347 NR_040090.1 Q5ST44 Q5ST44_HUMAN electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen CTGGGCCGTGGTTTTTTTTGCT 0.614 8 1254 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32522756 32522756 + RNA DEL A A - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr6:32522756delA ENST00000411500.1 - 0 458 NR_001298.1 GGACTAGGAGAAAAAAAGGTA 0.517 26 89 --- --- --- --- DAXX 1616 broad.mit.edu 37 6 33287898 33287900 + In_Frame_Del DEL TCC TCC - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr6:33287898_33287900delTCC ENST00000374542.5 - 5 1557_1559 c.1353_1355delGGA c.(1351-1356)gaa>ga p.EE455del DAXX_ENST00000414083.2_In_Frame_Del_p.EE380del|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000266000.6_In_Frame_Del_p.EE455del NM_001141969.1|NM_001141970.1|NM_001350.4 NP_001135441.1|NP_001135442.1|NP_001341.1 Q9UER7 DAXX_HUMAN death-domain associated protein 455 Asp/Glu-rich (acidic).|Necessary for interaction with USP7. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding p.E451E(2) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 ctcttcttcttcctcctcctcct 0.552 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 11 251 --- --- --- --- ZNF318 24149 broad.mit.edu 37 6 43323502 43323502 + Frame_Shift_Del DEL T T - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr6:43323502delT ENST00000361428.2 - 4 1647 c.1570delA c.(1570-1572)ggfs p.R526fs ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 526 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CTACGTCGCCTTTTTTCCTGT 0.493 10 1812 --- --- --- --- HTR1E 3354 broad.mit.edu 37 6 87725847 87725847 + Frame_Shift_Del DEL C C - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr6:87725847delC ENST00000305344.4 + 2 1498 c.795delC c.(793-795)atfs p.I265fs HTR1E_ENST00000369584.1_Frame_Shift_Del_p.I265fs NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 265 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity p.F268fs*4(1) breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) CCATCAGGATCCCCCCCTTCG 0.512 7 858 --- --- --- --- SGK1 6446 broad.mit.edu 37 6 134491968 134491973 + In_Frame_Del DEL TTTGGG TTTGGG - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr6:134491968_134491973delTTTGGG ENST00000367858.5 - 13 2001_2006 c.1404_1409delCCCAAA c.(1402-1410)aat>aa p.NPN468del SGK1_ENST00000237305.7_In_Frame_Del_p.NPN373del|SGK1_ENST00000413996.3_In_Frame_Del_p.NPN387del|SGK1_ENST00000367857.5_In_Frame_Del_p.NPN363del|SGK1_ENST00000528577.1_In_Frame_Del_p.NPN401del|SGK1_ENST00000475719.2_In_Frame_Del_p.NPN329del NM_001143676.1 NP_001137148.1 O00141 SGK1_HUMAN serum/glucocorticoid regulated kinase 1 373 apoptosis|response to stress|sodium ion transport endoplasmic reticulum|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1) 46 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847) ACTCACCACATTTGGGTTAAAAGGGG 0.388 25 663 --- --- --- --- CCDC28A 25901 broad.mit.edu 37 6 139097330 139097330 + Frame_Shift_Del DEL A A - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr6:139097330delA ENST00000332797.6 + 2 498 c.343delA c.(343-345)aafs p.K116fs NM_015439.2 NP_056254.1 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 116 p.N117fs*5(2) autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1) 13 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) TGTCAATGCCAAAAAAAATGC 0.413 8 394 --- --- --- --- SHPRH 257218 broad.mit.edu 37 6 146264834 146264836 + In_Frame_Del DEL ATC ATC - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr6:146264834_146264836delATC ENST00000367503.3 - 9 2079_2081 c.1681_1683delGAT c.(1681-1683)del p.D561del SHPRH_ENST00000275233.7_In_Frame_Del_p.D561del|SHPRH_ENST00000438092.2_In_Frame_Del_p.D561del|SHPRH_ENST00000367505.2_In_Frame_Del_p.D561del NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 561 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) AATAGTAAGGATCATCATCATCA 0.360 8 571 --- --- --- --- LPAL2 0 broad.mit.edu 37 6 160931971 160931972 + RNA INS - - A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr6:160931971_160931972insA ENST00000335388.5 - 0 166 NR_028092.1 large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) AATTATTACACAAAAAAAACTA 0.322 7 496 --- --- --- --- MPP6 51678 broad.mit.edu 37 7 24705666 24705666 + Frame_Shift_Del DEL A A - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr7:24705666delA ENST00000396475.2 + 9 1209 c.910delA c.(910-912)aafs p.K308fs MPP6_ENST00000222644.4_Frame_Shift_Del_p.K308fs|MPP6_ENST00000409761.1_Frame_Shift_Del_p.K196fs NM_016447.2 NP_057531.2 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) 308 protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 TATAAGTAGCAAAAAAAAGAA 0.299 8 538 --- --- --- --- HOXA1 3198 broad.mit.edu 37 7 27135314 27135316 + In_Frame_Del DEL CGA CGA - rs10951154 byFrequency TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr7:27135314_27135316delCGA ENST00000343060.4 - 1 277_279 c.216_218delTCG c.(214-219)cac>ca p.HR72del HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_In_Frame_Del_p.HR72del NM_005522.4 NP_005513.1 P49639 HXA1_HUMAN homeobox A1 72 Poly-His. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Ctgggggtggcgatggtggtggt 0.650 OREG0003750 type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 7 268 --- --- --- --- CCT6P3 0 broad.mit.edu 37 7 64528813 64528814 + RNA INS - - T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr7:64528813_64528814insT ENST00000426828.1 + 0 621 NR_033416.1 CTTTCTGTAACTTTTTTTTTTT 0.317 8 58 --- --- --- --- AUTS2 26053 broad.mit.edu 37 7 70255577 70255579 + In_Frame_Del DEL CCA CCA - rs35604576 TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr7:70255577_70255579delCCA ENST00000342771.4 + 19 3696_3698 c.3375_3377delCCA c.(3373-3378)agc>ag p.SH1125del AUTS2_ENST00000406775.2_In_Frame_Del_p.SH1101del NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 1125 His-rich. breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) ACGACTACAGccaccaccaccac 0.680 7 105 --- --- --- --- GTF2IRD2P1 0 broad.mit.edu 37 7 72685489 72685489 + RNA DEL A A - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr7:72685489delA ENST00000425256.1 - 0 120 NR_002164.1 actccatctcaaaaaaaaaaa 0.443 7 120 --- --- --- --- CYP51A1 1595 broad.mit.edu 37 7 91752494 91752494 + Frame_Shift_Del DEL T T - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr7:91752494delT ENST00000003100.8 - 7 1191 c.1026delA c.(1024-1026)aafs p.K342fs CYP51A1_ENST00000450723.1_Frame_Shift_Del_p.K237fs|LRRD1_ENST00000422722.1_5'UTR NM_000786.3 NP_000777.1 Q16850 CP51A_HUMAN cytochrome P450, family 51, subfamily A, polypeptide 1 336 cholesterol biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|sterol 14-demethylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1) 10 all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251) CTAAATAACATTTTTTTTGAA 0.398 10 814 --- --- --- --- MEPCE 56257 broad.mit.edu 37 7 100028823 100028825 + In_Frame_Del DEL CCA CCA - rs71555278 TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr7:100028823_100028825delCCA ENST00000310512.2 + 1 1570_1572 c.1182_1184delCCA c.(1180-1185)cgc>cg p.RH394del MEPCE_ENST00000414441.1_5'UTR NM_019606.5 NP_062552.2 Q7L2J0 MEPCE_HUMAN methylphosphate capping enzyme 394 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGGGAGGCCGCCACCACCACCAC 0.581 10 412 --- --- --- --- SRRT 51593 broad.mit.edu 37 7 100479332 100479332 + Frame_Shift_Del DEL G G - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr7:100479332delG ENST00000388793.4 + 4 524 c.304delG c.(304-306)ggfs p.G106fs SRRT_ENST00000457580.2_Frame_Shift_Del_p.G106fs|SRRT_ENST00000432932.1_Frame_Shift_Del_p.G106fs|SRRT_ENST00000347433.4_Frame_Shift_Del_p.G106fs NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 106 G -> GG (in Ref. 3; CAB46374). cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding p.G104fs*45(1) breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 GCCCTATGCTGGGGGGGGTGG 0.607 8 275 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142481743 142481745 + RNA DEL CTA CTA - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr7:142481743_142481745delCTA ENST00000603901.1 + 0 454 NR_001296.3 ACCCACATTTCTACTTTCTTTAT 0.517 17 264 --- --- --- --- AGAP3 116988 broad.mit.edu 37 7 150831565 150831566 + Frame_Shift_Ins INS - - G TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr7:150831565_150831566insG ENST00000397238.2 + 11 1405_1406 c.1405_1406insG c.(1405-1407)agcfs p.S469fs AGAP3_ENST00000463381.1_Frame_Shift_Ins_p.S241fs NM_031946.4 NP_114152.3 Q96P47 AGAP3_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 433 PH. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding p.R469*(1) central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1) 28 GCGCCTGCCCCGAGCCACACCT 0.663 9 168 --- --- --- --- NPM2 10361 broad.mit.edu 37 8 21892020 21892021 + Splice_Site INS - - A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr8:21892020_21892021insA ENST00000397940.1 + 7 1546_1547 c.e7-1 NPM2_ENST00000518119.1_Splice_Site|NPM2_ENST00000381530.5_Splice_Site|NPM2_ENST00000289820.6_Splice_Site|NPM2_ENST00000521157.1_Splice_Site Q86SE8 NPM2_HUMAN nucleophosmin/nucleoplasmin 2 chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization cytoplasmic chromatin|nuclear chromatin histone binding|nucleic acid binding large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 4 Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618) TTGGTTCCCAGAAAAAAAAGCT 0.406 9 708 --- --- --- --- TEX15 56154 broad.mit.edu 37 8 30695491 30695491 + Frame_Shift_Del DEL T T - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr8:30695491delT ENST00000256246.2 - 3 7234 c.7160delA c.(7159-7161)agfs p.K2387fs NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 2387 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CATTTCAACCTTTTTTGGCGT 0.388 8 862 --- --- --- --- WRN 7486 broad.mit.edu 37 8 30945377 30945379 + In_Frame_Del DEL AAG AAG - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr8:30945377_30945379delAAG ENST00000298139.5 + 12 1766_1768 c.1517_1519delAAG c.(1516-1521)aaa>a p.KE506del NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 506 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) CTTCCTACTAaagaagaagaaga 0.360 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 9 350 --- --- --- --- TP53INP1 0 broad.mit.edu 37 8 95952409 95952411 + In_Frame_Del DEL TCT TCT - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr8:95952409_95952411delTCT ENST00000342697.4 - 3 557_559 c.150_152delAGA c.(148-153)gag>ga p.EE50del TP53INP1_ENST00000378776.4_In_Frame_Del_p.EE50del|TP53INP1_ENST00000448464.2_In_Frame_Del_p.EE50del|NDUFAF6_ENST00000396113.1_Intron NM_033285.3 NP_150601.1 Q96A56 T53I1_HUMAN tumor protein p53 inducible nuclear protein 1 50 Glu-rich. apoptosis PML body p.E50E(1) kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 9 Breast(36;8.75e-07) GATGTCCTCCTCTTCTTCTTCTT 0.458 7 283 --- --- --- --- PKHD1L1 93035 broad.mit.edu 37 8 110455173 110455174 + Splice_Site INS - - G TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr8:110455173_110455174insG ENST00000378402.5 + 36 4497 c.e36-1 NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATTTTATGGCAGGTTCATTTTC 0.322 HNSCC(38;0.096) 7 435 --- --- --- --- TAF1L 138474 broad.mit.edu 37 9 32633584 32633584 + Frame_Shift_Del DEL T T - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr9:32633584delT ENST00000242310.4 - 1 2083 c.1994delA c.(1993-1995)agfs p.K665fs RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 665 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding p.K665fs*4(2) breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CATCTTGGCCTTTTTTTTGAT 0.478 19 608 --- --- --- --- FOXE1 2304 broad.mit.edu 37 9 100616701 100616706 + In_Frame_Del DEL GCCGCC GCCGCC - rs11279082 TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr9:100616701_100616706delGCCGCC ENST00000375123.3 + 1 1166_1171 c.505_510delGCCGCC c.(505-510)del p.AA177del NM_004473.3 NP_004464.2 O00358 FOXE1_HUMAN forkhead box E1 (thyroid transcription factor 2) 177 Ala-rich.|Poly-Ala. cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(62;0.158) Ggctgccgcagccgccgccgccgccg 0.767 18 47 --- --- --- --- TSC1 0 broad.mit.edu 37 9 135771988 135771990 + In_Frame_Del DEL GCT GCT - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr9:135771988_135771990delGCT ENST00000298552.3 - 23 3348_3350 c.3127_3129delAGC c.(3127-3129)del p.S1043del TSC1_ENST00000440111.2_In_Frame_Del_p.S1043del|TSC1_ENST00000545250.1_In_Frame_Del_p.S992del NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 1043 Poly-Ser. activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.S1043N(1)|p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) TAGAAAGCTCgctgctgctgctg 0.640 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 10 244 --- --- --- --- KIAA1217 56243 broad.mit.edu 37 10 24822125 24822127 + In_Frame_Del DEL GAA GAA - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr10:24822125_24822127delGAA ENST00000376451.2 + 11 2682_2684 c.2422_2424delGAA c.(2422-2424)del p.E812del KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.E1093del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del|KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000376454.3_In_Frame_Del_p.E1129del|KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del Q5T5P2 SKT_HUMAN KIAA1217 1129 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GGATGAGGAGGAAGAAGAAGAAG 0.552 7 325 --- --- --- --- CCAR1 55749 broad.mit.edu 37 10 70509285 70509286 + Frame_Shift_Del DEL GA GA - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr10:70509285_70509286delGA ENST00000265872.6 + 10 1080_1081 c.961_962delGA c.(961-963)gfs p.E321fs CCAR1_ENST00000543719.1_Frame_Shift_Del_p.E306fs|CCAR1_ENST00000535016.1_Frame_Shift_Del_p.E306fs NM_018237.2 NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 321 Arg-rich. apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 TTTCAGTCGTGAGAGAGAGAGA 0.391 9 248 --- --- --- --- TM9SF3 56889 broad.mit.edu 37 10 98336475 98336475 + Frame_Shift_Del DEL T T - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr10:98336475delT ENST00000371142.4 - 2 430 c.214delA c.(214-216)gtfs p.S72fs NM_020123.3 NP_064508.3 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 72 integral to membrane binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1) 15 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) TGACTGATACTTTTTTTTGAC 0.363 9 710 --- --- --- --- CPXM2 119587 broad.mit.edu 37 10 125528165 125528167 + In_Frame_Del DEL CAG CAG - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr10:125528165_125528167delCAG ENST00000241305.3 - 9 1328_1330 c.1174_1176delCTG c.(1174-1176)del p.L392del CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 392 Poly-Leu. cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CGAACTGCACCAGCAGCAGCAGC 0.626 10 930 --- --- --- --- KRTAP5-1 387264 broad.mit.edu 37 11 1605880 1605882 + In_Frame_Del DEL GCC GCC - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr11:1605880_1605882delGCC ENST00000382171.2 - 1 631_633 c.598_600delGGC c.(598-600)del p.G200del KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA NM_001005922.1 NP_001005922.1 Q6L8H4 KRA51_HUMAN keratin associated protein 5-1 200 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1) 16 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) AGCCCCCACAGCCGGAGCCACAA 0.665 7 623 --- --- --- --- CPSF7 79869 broad.mit.edu 37 11 61183765 61183767 + In_Frame_Del DEL AGG AGG - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr11:61183765_61183767delAGG ENST00000340437.4 - 6 984_986 c.904_906delCCT c.(904-906)del p.P302del CPSF7_ENST00000448745.1_In_Frame_Del_p.P250del|CPSF7_ENST00000439958.3_In_Frame_Del_p.P250del|CPSF7_ENST00000394888.4_In_Frame_Del_p.P259del NM_024811.3 NP_079087.3 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa 259 Pro-rich. mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22 AGTGGATACCAGGAGGAGGAGGA 0.611 7 312 --- --- --- --- SLC22A9 114571 broad.mit.edu 37 11 63149668 63149669 + Frame_Shift_Ins INS - - A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr11:63149668_63149669insA ENST00000279178.3 + 6 1241_1242 c.992_993insA c.(991-993)gcafs p.A331fs SLC22A9_ENST00000310969.4_3'UTR NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 331 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 CTGGAGGCAGCACAAAAAAAAA 0.406 7 736 --- --- --- --- RTN3 10313 broad.mit.edu 37 11 63525788 63525788 + Frame_Shift_Del DEL T T - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr11:63525788delT ENST00000354497.4 + 4 634 c.570delT c.(568-570)gcfs p.A190fs RTN3_ENST00000339997.4_3'UTR|RTN3_ENST00000341307.2_3'UTR|RTN3_ENST00000356000.3_3'UTR|RTN3_ENST00000377819.5_3'UTR|RTN3_ENST00000537981.1_3'UTR|RTN3_ENST00000540798.1_3'UTR NM_001265591.1 NP_001252520.1 O95197 RTN3_HUMAN reticulon 3 0 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 CATTCCAAGCTTTTTTTTTAA 0.348 8 198 --- --- --- --- FAU 2197 broad.mit.edu 37 11 64888248 64888250 + In_Frame_Del DEL TCT TCT - rs1065065 TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr11:64888248_64888250delTCT ENST00000529639.1 - 5 696_698 c.305_307delAGA c.(304-309)aca>a p.KT102del FAU_ENST00000525297.1_In_Frame_Del_p.KT67del|FAU_ENST00000529259.1_3'UTR|FAU_ENST00000527548.1_In_Frame_Del_p.KT102del|FAU_ENST00000531743.1_In_Frame_Del_p.KT102del|FAU_ENST00000279259.3_In_Frame_Del_p.ED83del NM_001997.4 NP_001988.1 P35544 UBIM_HUMAN Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed 0 NS(3)|kidney(1)|large_intestine(2) 6 GCCCGACCTGTCTTCTTCTTCTT 0.542 19 617 --- --- --- --- UVRAG 7405 broad.mit.edu 37 11 75694430 75694431 + Splice_Site INS - - A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr11:75694430_75694431insA ENST00000356136.3 + 8 940_941 c.e8-1 UVRAG_ENST00000532130.1_Splice_Site|UVRAG_ENST00000531818.1_Splice_Site|UVRAG_ENST00000533454.1_Splice_Site|UVRAG_ENST00000528420.1_Splice_Site NM_003369.3 NP_003360.2 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2) 32 TATTTATTTAGAAAAAAAAAAG 0.302 16 199 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738793 102738794 + RNA INS - - T rs35342965 by1000genomes TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr11:102738793_102738794insT ENST00000532855.1 - 0 727_728 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TGAGGAACAAGTGGTGCCTAAG 0.416 7 41 --- --- --- --- CADM1 23705 broad.mit.edu 37 11 115080312 115080314 + In_Frame_Del DEL TGG TGG - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr11:115080312_115080314delTGG ENST00000537058.1 - 8 1078_1080 c.1058_1060delCCA c.(1057-1062)atc>a p.TI353del CADM1_ENST00000542447.2_Intron|CADM1_ENST00000331581.6_In_Frame_Del_p.TI353del|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000452722.2_In_Frame_Del_p.TI353del|CADM1_ENST00000537140.1_Intron Q9BY67 CADM1_HUMAN cell adhesion molecule 1 353 PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) atggtaaggatggtggtggtggt 0.429 22 286 --- --- --- --- MFAP5 8076 broad.mit.edu 37 12 8804269 8804269 + Frame_Shift_Del DEL T T - rs139330366 TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr12:8804269delT ENST00000359478.2 - 7 423 c.236delA c.(235-237)atfs p.N79fs MFAP5_ENST00000433590.2_Intron|MFAP5_ENST00000535336.1_Intron|MFAP5_ENST00000543369.1_Intron|MFAP5_ENST00000396549.2_Intron|MFAP5_ENST00000540087.1_Intron NM_003480.2 NP_003471.1 Q13361 MFAP5_HUMAN microfibrillar associated protein 5 79 microfibril extracellular matrix structural constituent breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1) 13 Lung SC(5;0.184) TGCAGTGGTATTTTTTTCACT 0.423 7 597 --- --- --- --- OR10A7 121364 broad.mit.edu 37 12 55615114 55615116 + In_Frame_Del DEL CTT CTT - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr12:55615114_55615116delCTT ENST00000326258.1 + 1 306_308 c.306_308delCTT c.(304-309)tac>ta p.YF102del NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 CCCAGATGTACTTCTTCTTCTTC 0.414 7 1151 --- --- --- --- OR6C75 390323 broad.mit.edu 37 12 55759486 55759486 + Frame_Shift_Del DEL T T - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr12:55759486delT ENST00000343399.3 + 1 592 c.592delT c.(592-594)ttfs p.F199fs NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L200fs*1(1) endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 ACTCATGGCATTTTTTTTAGC 0.393 10 591 --- --- --- --- SLC39A5 283375 broad.mit.edu 37 12 56628997 56628999 + In_Frame_Del DEL CTG CTG - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr12:56628997_56628999delCTG ENST00000266980.4 + 5 984_986 c.691_693delCTG c.(691-693)del p.L234del SLC39A5_ENST00000454355.2_In_Frame_Del_p.L234del NM_001135195.1 NP_001128667.1 Q6ZMH5 S39A5_HUMAN solute carrier family 39 (zinc transporter), member 5 234 zinc ion transport basolateral plasma membrane|integral to membrane metal ion transmembrane transporter activity NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TCCCCTATCCCTGCTGCTGCTGC 0.635 7 1289 --- --- --- --- PABPC3 5042 broad.mit.edu 37 13 25671333 25671333 + Frame_Shift_Del DEL A A - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr13:25671333delA ENST00000281589.3 + 1 1034 c.997delA c.(997-999)aafs p.K333fs NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 333 RRM 4. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding p.F335fs*19(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TGGTCGCAGCAAAGGGTTTGG 0.428 11 1142 --- --- --- --- HSPH1 10808 broad.mit.edu 37 13 31715381 31715382 + Frame_Shift_Ins INS - - T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr13:31715381_31715382insT ENST00000320027.5 - 13 2075_2076 c.1731_1732insA c.(1729-1734)aattgafs p.N*577fs HSPH1_ENST00000445273.2_Frame_Shift_Ins_p.N*579fs|HSPH1_ENST00000380406.5_Frame_Shift_Ins_p.N*536fs|HSPH1_ENST00000380405.4_Frame_Shift_Ins_p.N*533fs|HSPH1_ENST00000429785.2_Frame_Shift_Ins_p.N*396fs NM_006644.2 NP_006635.2 Q92598 HS105_HUMAN heat shock 105kDa/110kDa protein 1 577 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) GGCTGGTCAACTTTTTTTTCAT 0.376 7 596 --- --- --- --- DIAPH3 81624 broad.mit.edu 37 13 60582733 60582734 + Frame_Shift_Ins INS - - T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr13:60582733_60582734insT ENST00000400324.4 - 9 1178_1179 c.958_959insA c.(958-960)tgafs p.*320fs DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.*309fs|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.*250fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.*274fs NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 320 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) AAATCTGTCAATTTTTTTTTCT 0.322 9 574 --- --- --- --- FAM155A 728215 broad.mit.edu 37 13 108518338 108518338 + Frame_Shift_Del DEL C C - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr13:108518338delC ENST00000375915.2 - 1 745 c.607delG c.(607-609)acfs p.D203fs NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 203 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 TCCTGCCCGTCCCCCCCGGCC 0.607 10 808 --- --- --- --- RP11-597A11.6 0 broad.mit.edu 37 14 20146528 20146529 + RNA INS - - C rs112786300 by1000genomes TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr14:20146528_20146529insC ENST00000555580.1 - 0 225 CTGGTCAATGGCATGCCAACTC 0.495 7 9 --- --- --- --- CHD8 57680 broad.mit.edu 37 14 21884031 21884031 + Frame_Shift_Del DEL T T - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr14:21884031delT ENST00000399982.2 - 5 1816 c.1752delA c.(1750-1752)aafs p.K584fs CHD8_ENST00000555962.1_Intron|CHD8_ENST00000557364.1_Frame_Shift_Del_p.K584fs|CHD8_ENST00000430710.3_Frame_Shift_Del_p.K305fs NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 584 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) CCTCTGTATATTTTTTTCGCT 0.398 10 864 --- --- --- --- TRAC 0 broad.mit.edu 37 14 23020942 23020942 + RNA DEL T T - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr14:23020942delT ENST00000478163.3 + 0 819 GAGGGGTTTATTTTTTTTTAA 0.468 8 225 --- --- --- --- IL25 0 broad.mit.edu 37 14 23845057 23845058 + Frame_Shift_Del DEL TG TG - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr14:23845057_23845058delTG ENST00000329715.2 + 2 760_761 c.502_503delTG c.(502-504)tfs p.C168fs IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs NM_022789.3 NP_073626.1 Q9H293 IL25_HUMAN interleukin 25 168 inflammatory response extracellular space|membrane cytokine activity|interleukin-17E receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396) TTCCTTAGCTTGTGTGTGTGTG 0.604 9 652 --- --- --- --- ELMSAN1 91748 broad.mit.edu 37 14 74205926 74205928 + In_Frame_Del DEL CTG CTG - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr14:74205926_74205928delCTG ENST00000286523.5 - 2 1566_1568 c.784_786delCAG c.(784-786)del p.Q262del ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 GTAGGgctgcctgctgctgctgc 0.650 10 171 --- --- --- --- GPR65 0 broad.mit.edu 37 14 88477554 88477555 + Frame_Shift_Ins INS - - T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr14:88477554_88477555insT ENST00000267549.3 + 2 921_922 c.363_364insT c.(361-366)aattttfs p.NF121fs RP11-300J18.2_ENST00000554433.1_RNA NM_003608.3 NP_003599.2 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 121 actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1) 16 ACCCTTTGAAGTTTTTTTTCCT 0.426 9 1308 --- --- --- --- BTBD7 55727 broad.mit.edu 37 14 93712186 93712188 + In_Frame_Del DEL TGC TGC - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr14:93712186_93712188delTGC ENST00000334746.5 - 10 2873_2875 c.2566_2568delGCA c.(2566-2568)del p.A856del BTBD7_ENST00000393170.2_In_Frame_Del_p.A430del|BTBD7_ENST00000554565.1_In_Frame_Del_p.A505del NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 856 Poly-Ala. breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) GCTTCTCAGAtgctgctgctgct 0.537 7 281 --- --- --- --- SYNE3 161176 broad.mit.edu 37 14 95921888 95921890 + In_Frame_Del DEL CTC CTC - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr14:95921888_95921890delCTC ENST00000334258.5 - 5 975_977 c.961_963delGAG c.(961-963)del p.E321del SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 CCCGCAGCCGCTCCTCCTCCTCC 0.616 7 680 --- --- --- --- GOLGA8DP 0 broad.mit.edu 37 15 22709277 22709278 + RNA INS - - A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr15:22709277_22709278insA ENST00000314246.8 - 0 1157 CTCTGGATTCCAaaaaaaaaag 0.515 8 192 --- --- --- --- SRP14 6727 broad.mit.edu 37 15 40328597 40328599 + In_Frame_Del DEL TGC TGC - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr15:40328597_40328599delTGC ENST00000267884.6 - 5 417_419 c.346_348delGCA c.(346-348)del p.A116del SRP14_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000558720.1_In_Frame_Del_p.A36del NM_003134.4 NP_003125.3 P37108 SRP14_HUMAN signal recognition particle 14kDa (homologous Alu RNA binding protein) 116 Ala/Thr-rich. negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding endometrium(1)|skin(1)|upper_aerodigestive_tract(1) 3 all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505) ctgcggcaggtgctgctgctgct 0.478 9 442 --- --- --- --- SLC24A1 9187 broad.mit.edu 37 15 65943128 65943130 + In_Frame_Del DEL GAG GAG - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr15:65943128_65943130delGAG ENST00000261892.6 + 7 2928_2930 c.2641_2643delGAG c.(2641-2643)del p.E890del SLC24A1_ENST00000537259.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.E890del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.E872del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000544319.2_In_Frame_Del_p.E776del NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 890 Poly-Glu. response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 gcaggaggaagaggaggaggagg 0.562 7 169 --- --- --- --- ARID3B 10620 broad.mit.edu 37 15 74888025 74888027 + In_Frame_Del DEL CAG CAG - rs141710149 TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr15:74888025_74888027delCAG ENST00000346246.5 + 9 1824_1826 c.1593_1595delCAG c.(1591-1596)gcc>gc p.AS531del NM_006465.2 NP_006456.1 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B (BRIGHT-like) 532 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 gcagcagcgccagcagcagcagc 0.640 10 228 --- --- --- --- KIAA1024 23251 broad.mit.edu 37 15 79750585 79750586 + Frame_Shift_Ins INS - - A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr15:79750585_79750586insA ENST00000305428.3 + 2 2171_2172 c.2096_2097insA c.(2095-2097)taafs p.*699fs NM_015206.2 NP_056021.1 Q9UPX6 K1024_HUMAN KIAA1024 699 integral to membrane central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1) 49 GTCAAGGCCTTAAAAAAAAGCC 0.545 11 710 --- --- --- --- CSPG4P5 0 broad.mit.edu 37 15 84957480 84957499 + RNA DEL GGCCCCACATCCATTGAGAA GGCCCCACATCCATTGAGAA - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr15:84957480_84957499delGGCCCCACATCCATTGAGAA ENST00000558801.1 - 0 7230_7249 TGTGTGCACTGGCCCCACATCCATTGAGAAGGCCCCACAT 0.586 10 91 --- --- --- --- CHD2 1106 broad.mit.edu 37 15 93545433 93545434 + Frame_Shift_Ins INS - - A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr15:93545433_93545434insA ENST00000394196.4 + 33 5232_5233 c.4164_4165insA c.(4162-4167)ataaaafs p.IK1388fs CHD2_ENST00000557381.1_Frame_Shift_Ins_p.IK1388fs NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1388 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) AAAGTCCAATgaaaaaaaaaca 0.337 20 694 --- --- --- --- RP11-266O8.1 0 broad.mit.edu 37 15 93974510 93974510 + RNA DEL C C - rs57286078 TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr15:93974510delC ENST00000543286.1 + 0 545 TGGCTGGGTTCtttttttttt 0.433 26 128 --- --- --- --- CREBBP 1387 broad.mit.edu 37 16 3817721 3817721 + Splice_Site DEL T T - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr16:3817721delT ENST00000262367.5 - 16 4059 c.3250_splice c.e16+1 p.I1084_splice CREBBP_ENST00000382070.3_Splice_Site_p.I1046_splice NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1084 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) AATGGCCTACTTTTTTTGCGC 0.398 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 9 648 --- --- --- --- PRRT2 112476 broad.mit.edu 37 16 29825015 29825016 + Frame_Shift_Ins INS - - C TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr16:29825015_29825016insC ENST00000300797.6 + 2 814_815 c.640_641insC c.(640-642)cccfs p.P214fs PRRT2_ENST00000567551.1_3'UTR|AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000358758.7_Frame_Shift_Ins_p.P214fs|PRRT2_ENST00000567659.1_Frame_Shift_Ins_p.P214fs Q7Z6L0 PRRT2_HUMAN proline-rich transmembrane protein 2 214 Pro-rich. A -> AP (in Ref. 3; CAD38881). response to biotic stimulus integral to membrane p.R217fs*12(1)|p.A214P(1) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 8 AGCCAATGGGGCCCCCCCCCGA 0.653 7 83 --- --- --- --- SRCAP 10847 broad.mit.edu 37 16 30736370 30736371 + Frame_Shift_Ins INS - - C TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr16:30736370_30736371insC ENST00000262518.4 + 25 6010_6011 c.5625_5626insC c.(5623-5628)caccccfs p.HP1875fs SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.HP1717fs|SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.HP1813fs NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1875 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CTCGACGCCAGCCCCCCCCACC 0.569 15 729 --- --- --- --- CDH3 1001 broad.mit.edu 37 16 68718504 68718504 + Frame_Shift_Del DEL A A - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr16:68718504delA ENST00000264012.4 + 10 1745 c.1201delA c.(1201-1203)aafs p.K401fs CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs|CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs NM_001793.4 NP_001784.2 P22223 CADH3_HUMAN cadherin 3, type 1, P-cadherin (placental) 401 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(2) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1) 25 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) TTTTGAGGCCAAAAACCAGCA 0.522 11 1972 --- --- --- --- C17orf85 55421 broad.mit.edu 37 17 3721809 3721811 + In_Frame_Del DEL TCC TCC - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr17:3721809_3721811delTCC ENST00000158149.3 - 11 1111_1113 c.216_218delGGA c.(214-219)gaa>ga p.EE78del C17orf85_ENST00000389005.4_In_Frame_Del_p.EE358del Q53F19 CQ085_HUMAN chromosome 17 open reading frame 85 358 nucleotide binding endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (3;0.0725) ctcttcctcttcctcctcctcct 0.507 7 559 --- --- --- --- MYOCD 93649 broad.mit.edu 37 17 12647692 12647694 + In_Frame_Del DEL CAG CAG - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr17:12647692_12647694delCAG ENST00000425538.1 + 8 1110_1112 c.910_912delCAG c.(910-912)del p.Q310del MYOCD_ENST00000343344.4_In_Frame_Del_p.Q310del|MYOCD_ENST00000395988.1_In_Frame_Del_p.Q214del NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 310 Gln-rich. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) AATCCTCAGCcagcagcagcagc 0.596 8 158 --- --- --- --- MED9 55090 broad.mit.edu 37 17 17394705 17394707 + In_Frame_Del DEL CAG CAG - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr17:17394705_17394707delCAG ENST00000268711.3 + 2 393_395 c.337_339delCAG c.(337-339)del p.Q117del NM_018019.2 NP_060489.1 Q9NWA0 MED9_HUMAN mediator complex subunit 9 117 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent protein binding cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GAGCCCCGAACAGCAGCAGCAGC 0.581 7 539 --- --- --- --- SNORD3B-1 0 broad.mit.edu 37 17 18965320 18965321 + RNA INS - - T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr17:18965320_18965321insT ENST00000363359.1 + 0 96_97 gagaggtagcgttttctcctga 0.490 23 229 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26684394 26684395 + Splice_Site INS - - G rs113730440 TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr17:26684394_26684395insG ENST00000540200.1 - 1 78 c.e1+1 POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) AGAGCGGCTTTGCCACCGGGCC 0.762 8 18 --- --- --- --- RP11-798G7.5 0 broad.mit.edu 37 17 43596433 43596433 + RNA DEL T T - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr17:43596433delT ENST00000253803.2 + 0 267 TTTTTGCCGGTTTTGGCCTAC 0.478 9 2912 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 454 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGCTTTTTGTAGATTAAAGGC 0.308 21 160 --- --- --- --- COIL 8161 broad.mit.edu 37 17 55028016 55028016 + Frame_Shift_Del DEL T T - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr17:55028016delT ENST00000240316.4 - 2 621 c.587delA c.(586-588)agfs p.K196fs NM_004645.2 NP_004636.1 P38432 COIL_HUMAN coilin 196 Lys-rich (basic). Cajal body|nucleolus protein C-terminus binding NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 15 Breast(9;6.15e-08) ATTCTTAGCCTTTTTTTTATA 0.393 9 651 --- --- --- --- VEZF1 7716 broad.mit.edu 37 17 56056587 56056589 + In_Frame_Del DEL TGT TGT - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr17:56056587_56056589delTGT ENST00000584396.1 - 5 1123_1125 c.1035_1037delACA c.(1033-1038)cat>ca p.QH345del VEZF1_ENST00000581208.1_In_Frame_Del_p.QH354del Q14119 VEZF1_HUMAN vascular endothelial zinc finger 1 354 Poly-Gln. cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1) 10 GCTTGTCACAtgttgttgttgtt 0.473 42 1061 --- --- --- --- BZRAP1 9256 broad.mit.edu 37 17 56387404 56387406 + In_Frame_Del DEL TCC TCC - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr17:56387404_56387406delTCC ENST00000355701.3 - 21 4683_4685 c.3813_3815delGGA c.(3811-3816)gaa>ga p.EE1273del BZRAP1_ENST00000268893.6_In_Frame_Del_p.EE1213del|BZRAP1_ENST00000343736.4_In_Frame_Del_p.EE1273del NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1273 Poly-Glu. mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CAGctcctcttcctcctcctcct 0.586 10 342 --- --- --- --- FTSJ3 117246 broad.mit.edu 37 17 61899155 61899157 + In_Frame_Del DEL CTC CTC - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr17:61899155_61899157delCTC ENST00000427159.2 - 15 2167_2169 c.1522_1524delGAG c.(1522-1524)del p.E508del NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 508 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 GCAGTGGATTCTCCTCCTCCTCC 0.537 9 897 --- --- --- --- OSBPL1A 114876 broad.mit.edu 37 18 21745096 21745097 + Frame_Shift_Ins INS - - T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr18:21745096_21745097insT ENST00000319481.3 - 27 2888_2889 c.2682_2683insA c.(2680-2685)aagactfs p.T895fs OSBPL1A_ENST00000399443.3_Frame_Shift_Ins_p.T382fs|OSBPL1A_ENST00000357041.4_Frame_Shift_Ins_p.T513fs NM_080597.3 NP_542164.2 Q9BXW6 OSBL1_HUMAN oxysterol binding protein-like 1A 895 cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) TCCTCAAGTCGTTTTTTTTCTT 0.460 9 973 --- --- --- --- WBP11P1 0 broad.mit.edu 37 18 30091782 30091782 + RNA DEL T T - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr18:30091782delT ENST00000567636.1 + 0 157 NR_003558.1 tttctttttctttttttttAA 0.418 8 275 --- --- --- --- DENND1C 79958 broad.mit.edu 37 19 6477251 6477251 + Frame_Shift_Del DEL G G - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr19:6477251delG ENST00000381480.2 - 8 603 c.491delC c.(490-492)ctfs p.P164fs DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Frame_Shift_Del_p.P120fs NM_024898.2 NP_079174.2 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 164 DENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity endometrium(3)|kidney(3)|large_intestine(1)|lung(3) 10 CCCCCGGGTAGGGGGGGGGAT 0.672 8 185 --- --- --- --- FFAR2 2867 broad.mit.edu 37 19 35940788 35940790 + In_Frame_Del DEL CTG CTG - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr19:35940788_35940790delCTG ENST00000599180.1 + 2 252_254 c.172_174delCTG c.(172-174)del p.L62del FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del|FFAR2_ENST00000601590.1_Intron O15552 FFAR2_HUMAN free fatty acid receptor 2 62 integral to plasma membrane G-protein coupled receptor activity|lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1) 22 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CGACCTCCTCCTGCTGCTGCTGC 0.645 8 201 --- --- --- --- PRX 57716 broad.mit.edu 37 19 40900180 40900182 + In_Frame_Del DEL TCC TCC - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr19:40900180_40900182delTCC ENST00000324001.7 - 7 4347_4349 c.4077_4079delGGA c.(4075-4080)gaa>ga p.EE1359del PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 1359 Poly-Glu. Missing. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) ACTGCcctcttcctcctcctcct 0.695 11 215 --- --- --- --- RSPH6A 81492 broad.mit.edu 37 19 46299165 46299167 + In_Frame_Del DEL CCT CCT - rs62639328 byFrequency TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr19:46299165_46299167delCCT ENST00000221538.3 - 6 2256_2258 c.2114_2116delAGG c.(2113-2118)ggc>g p.EG705del RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 705 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 tcctcctcgccctcctcctcctc 0.586 7 788 --- --- --- --- PANK2 80025 broad.mit.edu 37 20 3893120 3893120 + Frame_Shift_Del DEL T T - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr20:3893120delT ENST00000497424.1 + 4 689 c.378delT c.(376-378)acfs p.T126fs PANK2_ENST00000316562.4_Frame_Shift_Del_p.T417fs|PANK2_ENST00000336066.3_3'UTR NM_024960.4|NM_153640.2 NP_079236.3|NP_705904.1 Q9BZ23 PANK2_HUMAN pantothenate kinase 2 417 G -> A (in dbSNP:rs3737084). cell death|coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial intermembrane space|nucleus ATP binding|pantothenate kinase activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GAGGAGGAACTTTTTTTGGTC 0.343 8 1024 --- --- --- --- DSTN 11034 broad.mit.edu 37 20 17581679 17581680 + Frame_Shift_Ins INS - - T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr20:17581679_17581680insT ENST00000246069.6 + 2 646_647 c.300_301insT c.(298-303)atttttfs p.IF100fs DSTN_ENST00000543261.1_Frame_Shift_Ins_p.IF83fs|DSTN_ENST00000474024.1_3'UTR NM_006870.3 NP_006861.1 P60981 DEST_HUMAN destrin (actin depolymerizing factor) 100 ADF-H. actin filament severing|actin polymerization or depolymerization actin binding endometrium(1)|large_intestine(5)|lung(8)|skin(1) 15 AAGAGTTGATGTTTTTTTTGTG 0.356 10 366 --- --- --- --- PRDM15 63977 broad.mit.edu 37 21 43221415 43221417 + In_Frame_Del DEL CTG CTG - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr21:43221415_43221417delCTG ENST00000422911.1 - 25 3681_3683 c.3580_3582delCAG c.(3580-3582)del p.Q1194del PRDM15_ENST00000269844.3_In_Frame_Del_p.Q1503del|PRDM15_ENST00000447207.2_In_Frame_Del_p.Q1137del|PRDM15_ENST00000538201.1_In_Frame_Del_p.Q1157del|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000398548.1_In_Frame_Del_p.Q1174del P57071 PRD15_HUMAN PR domain containing 15 1503 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 AGCTGTACATCTGCTGCTGCTGC 0.611 9 491 --- --- --- --- KRTAP10-6 386674 broad.mit.edu 37 21 46012219 46012220 + In_Frame_Ins INS - - GGGGCGCAGCAGCTG rs71199613 TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr21:46012219_46012220insGGGGCGCAGCAGCTG ENST00000400368.1 - 1 166_167 c.146_147insCAGCTGCTGCGCCCC c.(145-147)cgc>cCAGCTGCTGCGCCCCgc p.48_49insPAAAP TSPEAR_ENST00000323084.4_Intron NM_198688.2 NP_941961.2 P60371 KR106_HUMAN keratin associated protein 10-6 48 29 X 5 AA repeats of C-C-X(3). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 GGCAGGGGGCCGGGGCGCAGCA 0.688 22 231 --- --- --- --- TPTEP1 0 broad.mit.edu 37 22 17127506 17127507 + RNA INS - - A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr22:17127506_17127507insA ENST00000426585.1 + 0 442 AGGGCCTAGAGAAAAAAAAAAT 0.421 10 355 --- --- --- --- ARFGAP3 26286 broad.mit.edu 37 22 43213780 43213780 + Frame_Shift_Del DEL T T - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr22:43213780delT ENST00000263245.5 - 10 1115 c.896delA c.(895-897)atfs p.N299fs ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs|ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs NM_001142293.1|NM_014570.4 NP_001135765.1|NP_055385.3 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating protein 3 299 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 11 TGAGTCAACATTTTTTTTGCC 0.363 13 698 --- --- --- --- TXLNG 55787 broad.mit.edu 37 X 16850849 16850850 + Frame_Shift_Del DEL AG AG - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chrX:16850849_16850850delAG ENST00000380122.5 + 6 1029_1030 c.968_969delAG c.(967-969)cfs p.Q323fs TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs NM_018360.2 NP_060830.2 Q9NUQ3 TXLNG_HUMAN taxilin gamma 323 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 15 GAAAAACATCAGAGAGAGAGAG 0.386 10 443 --- --- --- --- MED12 9968 broad.mit.edu 37 X 70360680 70360682 + In_Frame_Del DEL GCA GCA - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chrX:70360680_70360682delGCA ENST00000333646.6 + 42 6448_6450 c.6249_6251delGCA c.(6247-6252)cgg>cg p.RQ2083del MED12_ENST00000374080.3_In_Frame_Del_p.RQ2080del|MED12_ENST00000374102.1_In_Frame_Del_p.RQ2079del NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 2080 Gln-rich. androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) accacatccggcagcagcagcag 0.586 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 8 268 --- --- --- --- ZBTB33 10009 broad.mit.edu 37 X 119388276 119388278 + In_Frame_Del DEL GAT GAT - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chrX:119388276_119388278delGAT ENST00000326624.2 + 2 1234_1236 c.1006_1008delGAT c.(1006-1008)del p.D340del ZBTB33_ENST00000557385.1_In_Frame_Del_p.D340del NM_006777.3 NP_006768.1 Q86T24 KAISO_HUMAN zinc finger and BTB domain containing 33 340 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleolus|plasma membrane DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 26 GGAAATAATAGATGATGATGATG 0.433 9 815 --- --- --- --- CXorf66 347487 broad.mit.edu 37 X 139038599 139038599 + Frame_Shift_Del DEL T T - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chrX:139038599delT ENST00000370540.1 - 3 565 c.542delA c.(541-543)agfs p.K181fs NM_001013403.2 NP_001013421.1 Q5JRM2 CX066_HUMAN chromosome X open reading frame 66 181 integral to membrane breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1) 26 CTTATGTGCCTTTTCCAGGTG 0.413 7 1693 --- --- --- --- SPANXN2 494119 broad.mit.edu 37 X 142803692 142803692 + Frame_Shift_Del DEL T T - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chrX:142803692delT ENST00000370498.1 - 1 824 c.71delA c.(70-72)atfs p.N24fs NM_001009615.1 NP_001009615.1 Q5MJ10 SPXN2_HUMAN SPANX family, member N2 24 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) TACCTCATCATTTTTTTTGTT 0.443 14 1233 --- --- --- --- MAMLD1 10046 broad.mit.edu 37 X 149639325 149639327 + In_Frame_Del DEL CAG CAG - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chrX:149639325_149639327delCAG ENST00000370401.2 + 4 1790_1792 c.1480_1482delCAG c.(1480-1482)del p.Q502del MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del Q13495 MAMD1_HUMAN mastermind-like domain containing 1 502 Poly-Gln. male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) AAGCcagcaacagcagcagcagc 0.532 17 464 --- --- --- ---