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 CCT8 10694 broad.mit.edu 37 21 30440001 30440001 + Missense_Mutation SNP A A G TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr21:30440001A>G ENST00000286788.4 - 4 463 c.257T>C c.(256-258)aTt>aCt p.I86T CCT8_ENST00000540844.1_Missense_Mutation_p.I13T|CCT8_ENST00000542732.1_Missense_Mutation_p.I67T|CCT8_ENST00000470450.1_5'UTR NM_006585.2 NP_006576.2 P50990 TCPQ_HUMAN chaperonin containing TCP1, subunit 8 (theta) 86 'de novo' posttranslational protein folding aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center ATP binding|ATPase activity, coupled|unfolded protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3) 14 AGCCATTACAATCATTTTTGC 0.368000 4 134 0 0 1 0 0 GREM2 64388 broad.mit.edu 37 1 240656560 240656560 + Missense_Mutation SNP C C G TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr1:240656560C>G ENST00000318160.4 - 2 482 c.216G>C c.(214-216)tgG>tgC p.W72C NM_022469.3 NP_071914.3 Q9H772 GREM2_HUMAN gremlin 2, DAN family BMP antagonist 72 BMP signaling pathway extracellular space cytokine activity p.W72C(1) endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 10 all_cancers(173;0.0196) OV - Ovarian serous cystadenocarcinoma(106;0.0123) GCGTCTTGCACCAGTCACTCT 0.632000 12 44 0 0 1 0 0 EARS2 124454 broad.mit.edu 37 16 23541092 23541092 + Silent SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr16:23541092G>A ENST00000449606.1 - 6 1225 c.1194C>T c.(1192-1194)taC>taT p.Y398Y EARS2_ENST00000563232.1_Silent_p.Y398Y|EARS2_ENST00000563459.1_Silent_p.Y398Y|EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000564501.1_Silent_p.Y398Y NM_001083614.1 NP_001077083.1 Q5JPH6 SYEM_HUMAN glutamyl-tRNA synthetase 2, mitochondrial 398 glutamyl-tRNA aminoacylation mitochondrial matrix ATP binding|glutamate-tRNA ligase activity|RNA binding central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 GBM - Glioblastoma multiforme(48;0.0353) L-Glutamic Acid(DB00142) TCCTCTCCACGTAGACTGGGT 0.592000 27 181 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41553402 41553402 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr22:41553402G>A ENST00000263253.7 + 18 4710 c.3491G>A c.(3490-3492)tGt>tAt p.C1164Y NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1164 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 GGATACTGTTGTGGCAGAAAG 0.393000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 113 70 0 0 1 0 0 OR13H1 347468 broad.mit.edu 37 X 130678201 130678201 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chrX:130678201G>A ENST00000338616.3 + 1 252 c.154G>A c.(154-156)Gac>Aac p.D52N NM_001004486.1 NP_001004486.1 Q8NG92 O13H1_HUMAN olfactory receptor, family 13, subfamily H, member 1 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 Acute lymphoblastic leukemia(192;0.000636) TATTCACTTTGACCCCAACCT 0.413000 61 177 0 0 1 0 0 ACSM2B 348158 broad.mit.edu 37 16 20565101 20565101 + Silent SNP A A C TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr16:20565101A>C ENST00000329697.6 - 5 906 c.738T>G c.(736-738)gcT>gcG p.A246A ACSM2B_ENST00000565322.1_Silent_p.A167A|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565232.1_Silent_p.A246A|ACSM2B_ENST00000567001.1_Silent_p.A246A NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 246 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 CAGCTTACCCAGCATCCATCT 0.512000 27 104 0 0 1 0 0 DNAJC13 23317 broad.mit.edu 37 3 132186135 132186135 + Missense_Mutation SNP G G T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr3:132186135G>T ENST00000260818.6 + 20 2434 c.2186G>T c.(2185-2187)aGg>aTg p.R729M DNAJC13_ENST00000486798.1_3'UTR NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 729 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 TGGAGGGATAGGATGGGCATT 0.398000 12 154 6.40141e-05 7.17399e-05 1 1 0 ZNF407 55628 broad.mit.edu 37 18 72343784 72343784 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr18:72343784G>A ENST00000299687.5 + 1 809 c.809G>A c.(808-810)cGt>cAt p.R270H ZNF407_ENST00000309902.6_Missense_Mutation_p.R270H|ZNF407_ENST00000577538.1_Missense_Mutation_p.R270H|ZNF407_ENST00000582337.1_Missense_Mutation_p.R270H NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 270 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R270H(1) central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) ACACATCTCCGTCGTCAGAAT 0.403000 11 195 0 0 1 0 0 SRC 6714 broad.mit.edu 37 20 36031234 36031234 + Missense_Mutation SNP C C A rs141011727 TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr20:36031234C>A ENST00000373578.2 + 13 1702 c.1353C>A c.(1351-1353)ttC>ttA p.F451L SRC_ENST00000477066.1_3'UTR|SRC_ENST00000445403.1_Missense_Mutation_p.F451L|SRC_ENST00000373558.2_Missense_Mutation_p.F457L|SRC_ENST00000358208.4_Missense_Mutation_p.F451L|SRC_ENST00000373567.2_Missense_Mutation_p.F451L|SRC_ENST00000360723.4_Missense_Mutation_p.F457L NM_198291.1 NP_938033.1 P12931 SRC_HUMAN v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog 451 Protein kinase. axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation caveola|cytosol|mitochondrial inner membrane ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) Dasatinib(DB01254) TGTGGTCCTTCGGGATCCTGC 0.592000 3 114 1 1 1 1 0 BRIP1 83990 broad.mit.edu 37 17 59876570 59876570 + Missense_Mutation SNP T T C TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr17:59876570T>C ENST00000259008.2 - 9 1498 c.1231A>G c.(1231-1233)Aca>Gca p.T411A BRIP1_ENST00000577598.1_Missense_Mutation_p.T411A NM_032043.2 NP_114432.2 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 411 Helicase ATP-binding. DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 TGAACTTCTGTTACACTGTAA 0.398000 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 37 135 0 0 1 0 0 ZNF610 162963 broad.mit.edu 37 19 52857030 52857030 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr19:52857030G>A ENST00000601151.1 + 4 611 c.159G>A c.(157-159)atG>atA p.M53I ZNF610_ENST00000403906.3_Missense_Mutation_p.M53I|ZNF610_ENST00000321287.8_Missense_Mutation_p.M53I|ZNF610_ENST00000327920.8_Missense_Mutation_p.M53I NM_001161427.1 NP_001154899.1 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 53 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2) 34 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) GGGACGTGATGTTGGAGAACT 0.512000 26 203 0 0 1 0 0 PLCE1 51196 broad.mit.edu 37 10 95790919 95790919 + Nonsense_Mutation SNP C C G TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr10:95790919C>G ENST00000260766.3 + 2 750 c.116C>G c.(115-117)tCa>tGa p.S39* PLCE1_ENST00000371380.2_Nonsense_Mutation_p.S39* NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 39 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) ATCAATATTTCAAAAGCACAT 0.423000 17 96 0 0 1 0 0 ASAP1 50807 broad.mit.edu 37 8 131127917 131127917 + Missense_Mutation SNP C C T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr8:131127917C>T ENST00000357668.1 - 22 2156 c.2129G>A c.(2128-2130)cGa>cAa p.R710Q ASAP1_ENST00000518721.1_Missense_Mutation_p.R710Q Q9ULH1 ASAP1_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 710 cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 CTCCTCCTGTCGAAGATTCCA 0.413000 32 478 0 0 1 0 0 ASZ1 136991 broad.mit.edu 37 7 117007450 117007450 + Missense_Mutation SNP C C A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr7:117007450C>A ENST00000284629.2 - 12 1293 c.1231G>T c.(1231-1233)Gat>Tat p.D411Y NM_130768.2 NP_570124.1 Q8WWH4 ASZ1_HUMAN ankyrin repeat, SAM and basic leucine zipper domain containing 1 411 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1) 24 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) TCACTCAAATCTTCAACATTA 0.303000 4 46 0.00116845 0.00128727 1 1 0 HLA-B 3106 broad.mit.edu 37 6 31323191 31323191 + Missense_Mutation SNP C C A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr6:31323191C>A ENST00000412585.2 - 4 826 c.798G>T c.(796-798)caG>caT p.Q266H NM_005514.6 NP_005505.2 major histocompatibility complex, class I, B endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2) 27 CTGCCCACTTCTGGAAGGTTC 0.582000 Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of 4 83 0.150653 0.157943 1 1 0 C6orf118 168090 broad.mit.edu 37 6 165715113 165715113 + Missense_Mutation SNP T T C TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr6:165715113T>C ENST00000543069.1 - 2 967 c.386A>G c.(385-387)aAg>aGg p.K129R C6orf118_ENST00000230301.8_Missense_Mutation_p.K233R Q5T5N4 CF118_HUMAN chromosome 6 open reading frame 118 233 breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) GAAGTCATTCTTCAGGAGATC 0.607000 3 101 0 0 1 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 5 104 0 0 1 0 0 DIAPH1 1729 broad.mit.edu 37 5 140960400 140960400 + Silent SNP G G C TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr5:140960400G>C ENST00000253811.6 - 8 875 c.735C>G c.(733-735)gtC>gtG p.V245V DIAPH1_ENST00000398557.4_Silent_p.V245V|DIAPH1_ENST00000398566.3_Silent_p.V236V|DIAPH1_ENST00000389054.3_Silent_p.V245V|DIAPH1_ENST00000389057.5_Silent_p.V236V|DIAPH1_ENST00000518047.1_Silent_p.V236V|DIAPH1_ENST00000398562.2_Silent_p.V236V|DIAPH1_ENST00000520569.1_Silent_p.V191V O60610 DIAP1_HUMAN diaphanous-related formin 1 245 GBD/FH3. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCATGGCTCTGACCAGCAGTA 0.463000 8 116 0 0 1 0 0 CLCN4 1183 broad.mit.edu 37 X 10176320 10176320 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chrX:10176320G>A ENST00000380833.4 + 9 1470 c.1079G>A c.(1078-1080)cGc>cAc p.R360H CLCN4_ENST00000380829.1_Missense_Mutation_p.R329H|CLCN4_ENST00000421085.2_Missense_Mutation_p.R266H NM_001256944.1|NM_001830.3 NP_001243873.1|NP_001821.2 P51793 CLCN4_HUMAN chloride channel, voltage-sensitive 4 360 early endosome membrane|integral to membrane|late endosome membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TGCAGGAGGCGCAAGACCACC 0.597000 4 171 0 0 1 0 0 ATP10B 23120 broad.mit.edu 37 5 160042962 160042962 + Missense_Mutation SNP C C T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr5:160042962C>T ENST00000327245.5 - 17 3382 c.2536G>A c.(2536-2538)Gaa>Aaa p.E846K CTC-348L5.1_ENST00000523598.1_RNA NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 846 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AAGTCCTCTTCGCTTACAACC 0.527000 17 55 0 0 1 0 0 ZNF335 63925 broad.mit.edu 37 20 44579141 44579141 + Silent SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr20:44579141G>A ENST00000322927.2 - 21 3383 c.3283C>T c.(3283-3285)Ctg>Ttg p.L1095L ZNF335_ENST00000426788.1_Silent_p.L940L NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 1095 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) GTGTGAGTCAGCATGTGCCGA 0.597000 4 236 0 0 1 0 0 OR11H4 390442 broad.mit.edu 37 14 20711912 20711912 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr14:20711912G>A ENST00000315409.2 + 1 1015 c.962G>A c.(961-963)cGt>cAt p.R321H NM_001004479.1 NP_001004479.1 Q8NGC9 O11H4_HUMAN olfactory receptor, family 11, subfamily H, member 4 321 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 29 all_cancers(95;0.000888) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0146) ATGAGAATTCGTCAAAATTCG 0.393000 39 80 0 0 1 0 0 CCKAR 886 broad.mit.edu 37 4 26491091 26491091 + Missense_Mutation SNP A A G TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr4:26491091A>G ENST00000295589.3 - 2 322 c.128T>C c.(127-129)gTg>gCg p.V43A NM_000730.2 NP_000721.1 P32238 CCKAR_HUMAN cholecystokinin A receptor 43 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1) 29 Breast(46;0.0503) Ceruletide(DB00403) GAGAATCTGCACCGCTGGCTG 0.552000 6 58 0 0 1 0 0 CYLD 1540 broad.mit.edu 37 16 50811826 50811826 + Nonsense_Mutation SNP C C A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr16:50811826C>A ENST00000540145.1 + 8 1527 c.1112C>A c.(1111-1113)tCa>tAa p.S371* CYLD_ENST00000568704.2_Nonsense_Mutation_p.S368*|CYLD_ENST00000311559.9_Nonsense_Mutation_p.S371*|CYLD_ENST00000566206.1_Nonsense_Mutation_p.S368*|CYLD_ENST00000564326.1_Nonsense_Mutation_p.S368*|CYLD_ENST00000398568.2_Nonsense_Mutation_p.S368*|CYLD_ENST00000569418.1_Nonsense_Mutation_p.S368*|CYLD_ENST00000427738.3_Nonsense_Mutation_p.S371* Q9NQC7 CYLD_HUMAN cylindromatosis (turban tumor syndrome) 371 Interaction with TRIP. cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding p.S371*(1) central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1) 62 all_cancers(37;0.0156) CAATCCAAATCAAAAAATACA 0.313000 """Mis, N, F, S""" cylindroma cylindroma Multiple Trichoepithelioma, Familial;Familial Cylindromatosis 7 126 8.12818e-05 9.03132e-05 1 1 0 KLF15 28999 broad.mit.edu 37 3 126070938 126070938 + Silent SNP G G C TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr3:126070938G>C ENST00000296233.3 - 2 1058 c.828C>G c.(826-828)tcC>tcG p.S276S NM_014079.3 NP_054798.1 Q9UIH9 KLF15_HUMAN Kruppel-like factor 15 276 nucleus DNA binding|zinc ion binding endometrium(1)|lung(7)|ovary(2)|skin(2) 12 GBM - Glioblastoma multiforme(114;0.147) GCACAAACTTGGAGGGCAGGT 0.627000 2 9 0 0 1 0 0 NEDD1 121441 broad.mit.edu 37 12 97331091 97331091 + Missense_Mutation SNP C C T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr12:97331091C>T ENST00000266742.4 + 9 1376 c.1037C>T c.(1036-1038)gCc>gTc p.A346V NEDD1_ENST00000411739.2_Missense_Mutation_p.A257V|NEDD1_ENST00000457368.2_Missense_Mutation_p.A257V|NEDD1_ENST00000429527.2_Missense_Mutation_p.A346V|NEDD1_ENST00000557644.1_Missense_Mutation_p.A353V NM_152905.3 NP_690869.1 Q8NHV4 NEDD1_HUMAN neural precursor cell expressed, developmentally down-regulated 1 346 cell division|G2/M transition of mitotic cell cycle|mitosis cytosol breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8) 22 GAAGCACCTGCCACGTCCATT 0.433000 104 109 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13701532 13701532 + Missense_Mutation SNP G G C TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr5:13701532G>C ENST00000265104.4 - 77 13456 c.13352C>G c.(13351-13353)tCt>tGt p.S4451C NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4451 S -> F (in Ref. 5; BAB15543). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CAGTGTACTAGAAATCCAAGA 0.373000 Kartagener syndrome 4 143 0 0 1 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156950259 156950259 + Silent SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr1:156950259G>A ENST00000368194.3 - 4 1282 c.243C>T c.(241-243)gcC>gcT p.A81A ARHGEF11_ENST00000361409.2_Silent_p.A81A NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 81 PDZ. actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity p.A81A(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTTTCACACCGGCCTTCATGG 0.567000 5 11 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152746543 152746543 + Missense_Mutation SNP C C G TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr6:152746543C>G ENST00000367255.5 - 39 5841 c.5240G>C c.(5239-5241)aGa>aCa p.R1747T SYNE1_ENST00000423061.1_Missense_Mutation_p.R1754T|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1747T|SYNE1_ENST00000448038.1_Missense_Mutation_p.R1754T|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1784T NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1747 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) TGGTAAATCTCTCCATCTCTC 0.318000 HNSCC(10;0.0054) 5 163 0 0 1 0 0 CHI3L1 1116 broad.mit.edu 37 1 203150383 203150383 + Silent SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr1:203150383G>A ENST00000255409.3 - 7 743 c.618C>T c.(616-618)taC>taT p.Y206Y NM_001276.2 NP_001267.2 P36222 CH3L1_HUMAN chitinase 3-like 1 (cartilage glycoprotein-39) 206 Chitooligosaccharide. chitin catabolic process extracellular space|proteinaceous extracellular matrix cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1) 18 CATGAAAATCGTAGGTCATGA 0.522000 25 61 0 0 1 0 0 IL2RB 3560 broad.mit.edu 37 22 37524391 37524391 + Missense_Mutation SNP C C A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr22:37524391C>A ENST00000216223.5 - 10 1599 c.1401G>T c.(1399-1401)tgG>tgT p.W467C NM_000878.3 NP_000869.1 P14784 IL2RB_HUMAN interleukin 2 receptor, beta 467 interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly external side of plasma membrane|integral to plasma membrane interleukin-2 receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5) 23 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) GCTGGGGGTCCCAGTCTCTGG 0.682000 5 50 0.014758 0.0158557 1 1 0 LPPR4 9890 broad.mit.edu 37 1 99771805 99771805 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr1:99771805G>A ENST00000370185.3 + 7 2028 c.1531G>A c.(1531-1533)Gga>Aga p.G511R LPPR4_ENST00000370184.1_Missense_Mutation_p.G353R|LPPR4_ENST00000457765.1_Missense_Mutation_p.G453R NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 511 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) CGCTGTCCCCGGATGTAACAA 0.552000 17 384 0 0 1 0 0 PCBP2 5094 broad.mit.edu 37 12 53849269 53849269 + Missense_Mutation SNP C C T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr12:53849269C>T ENST00000603815.1 + 4 468 c.118C>T c.(118-120)Cgc>Tgc p.R40C PCBP2_ENST00000548933.1_Missense_Mutation_p.R40C|PCBP2_ENST00000359462.5_Missense_Mutation_p.R40C|PCBP2_ENST00000359282.5_Missense_Mutation_p.R40C|PCBP2_ENST00000546463.1_Missense_Mutation_p.R40C|PCBP2_ENST00000541275.1_Missense_Mutation_p.R40C|PCBP2_ENST00000455667.3_Missense_Mutation_p.R40C|PCBP2_ENST00000447282.1_Missense_Mutation_p.R40C|PCBP2_ENST00000439930.3_Missense_Mutation_p.R40C|PCBP2_ENST00000437231.1_Missense_Mutation_p.R40C|PCBP2_ENST00000552819.1_Missense_Mutation_p.R40C|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000552296.2_Missense_Mutation_p.R40C|PCBP2_ENST00000549863.1_Missense_Mutation_p.R40C NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4 NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1 Q15366 PCBP2_HUMAN poly(rC) binding protein 2 40 KH 1. innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus cytosol|nucleoplasm|ribonucleoprotein complex DNA binding|RNA binding|ubiquitin protein ligase binding central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 15 TAAGAAGATGCGCGAGGAGGT 0.348000 4 138 0 0 1 0 0 ATP7B 540 broad.mit.edu 37 13 52548430 52548430 + Missense_Mutation SNP A A G TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr13:52548430A>G ENST00000242839.4 - 2 1082 c.926T>C c.(925-927)gTg>gCg p.V309A ATP7B_ENST00000448424.2_Missense_Mutation_p.V309A|ATP7B_ENST00000542656.1_Missense_Mutation_p.V277A|ATP7B_ENST00000400370.3_Missense_Mutation_p.V309A|ATP7B_ENST00000344297.5_Missense_Mutation_p.V309A|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400366.3_Intron|ATP7B_ENST00000418097.2_Missense_Mutation_p.V309A NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 309 HMA 3. ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) CTGCAGAGCCACTGGGCTGGT 0.488000 Wilson disease 23 109 0 0 1 0 0 LPAR5 57121 broad.mit.edu 37 12 6729533 6729533 + Silent SNP C C T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr12:6729533C>T ENST00000329858.4 - 2 1638 c.882G>A c.(880-882)ccG>ccA p.P294P LPAR5_ENST00000431922.1_Silent_p.P294P NM_020400.5 NP_065133.1 Q9H1C0 LPAR5_HUMAN lysophosphatidic acid receptor 5 294 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2) 7 AGTACACCAGCGGGTCCAGCA 0.726000 12 25 0 0 1 0 0 ATHL1 80162 broad.mit.edu 37 11 294335 294335 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr11:294335G>A ENST00000409548.2 + 13 1992 c.1877G>A c.(1876-1878)gGc>gAc p.G626D ATHL1_ENST00000409479.1_Missense_Mutation_p.G653D|ATHL1_ENST00000409655.1_Missense_Mutation_p.G378D NM_025092.4 NP_079368.3 Q32M88 ATHL1_HUMAN ATH1, acid trehalase-like 1 (yeast) 626 carbohydrate metabolic process hydrolase activity, acting on glycosyl bonds breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3) 17 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) AGCGTCTCCGGCATCTTCTAC 0.612000 4 210 0 0 1 0 0 SREBF1 6720 broad.mit.edu 37 17 17723627 17723627 + Silent SNP G G T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr17:17723627G>T ENST00000355815.4 - 3 559 c.390C>A c.(388-390)ccC>ccA p.P130P SREBF1_ENST00000583732.1_Intron|SREBF1_ENST00000435530.2_Silent_p.P100P|SREBF1_ENST00000338854.5_Silent_p.P100P|SREBF1_ENST00000261646.5_Silent_p.P100P NM_001005291.2 NP_001005291.1 P36956 SRBP1_HUMAN sterol regulatory element binding transcription factor 1 100 Pro/Ser-rich. cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 14 GTGCAGGCTGGGGAGGGGACA 0.627000 3 63 1 1 1 1 0 LGMN 5641 broad.mit.edu 37 14 93172859 93172859 + Missense_Mutation SNP C C A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr14:93172859C>A ENST00000393218.2 - 13 1497 c.1160G>T c.(1159-1161)cGg>cTg p.R387L LGMN_ENST00000557434.1_Intron|LGMN_ENST00000334869.4_Missense_Mutation_p.R387L|LGMN_ENST00000555699.1_Intron NM_001008530.2 NP_001008530.1 Q99538 LGMN_HUMAN legumain 387 hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process lysosome cysteine-type endopeptidase activity|protein serine/threonine kinase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2) 18 all_cancers(154;0.0706) COAD - Colon adenocarcinoma(157;0.224) GCAGTGGGTCCGGAAGTGCAG 0.627000 3 81 0.115264 0.122822 1 1 0 ITCH 83737 broad.mit.edu 37 20 33033193 33033193 + Missense_Mutation SNP A A G TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr20:33033193A>G ENST00000374864.4 + 11 1280 c.1067A>G c.(1066-1068)tAt>tGt p.Y356C ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000535650.1_Missense_Mutation_p.Y246C|ITCH_ENST00000262650.6_Missense_Mutation_p.Y397C NM_001257137.1|NM_001257138.1|NM_031483.5 NP_001244066.1|NP_001244067.1|NP_113671.3 Q96J02 ITCH_HUMAN itchy E3 ubiquitin protein ligase 397 WW 1. apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus cytosol|nucleus|plasma membrane CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1) 36 GTCCGGAACTATGAACAATGG 0.458000 85 137 0 0 1 0 0 LRP4 4038 broad.mit.edu 37 11 46911062 46911062 + Missense_Mutation SNP G G T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr11:46911062G>T ENST00000378623.1 - 16 2357 c.2115C>A c.(2113-2115)aaC>aaA p.N705K NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 705 EGF-like 3. endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) AGCCTCCGTTGTTGTCCCCAC 0.592000 OREG0020948 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 118 3.09899e-07 3.59704e-07 1 1 0 HIST2H2BE 8349 broad.mit.edu 37 1 149858030 149858030 + Missense_Mutation SNP C C T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr1:149858030C>T ENST00000369155.2 - 1 202 c.161G>A c.(160-162)gGc>gAc p.G54D NM_003528.2 NP_003519.1 Q16778 H2B2E_HUMAN histone cluster 2, H2be 54 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding p.G54D(2) breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 14 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) GGACGAGATGCCGGTGTCGGG 0.587000 5 322 0 0 1 0 0 ADGRG1 9289 broad.mit.edu 37 16 57689388 57689388 + Silent SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr16:57689388G>A ENST00000562631.1 + 6 1378 c.846G>A c.(844-846)ggG>ggA p.G282G GPR56_ENST00000540164.2_Silent_p.G282G|GPR56_ENST00000544297.1_Silent_p.G107G|GPR56_ENST00000568909.1_Silent_p.G282G|GPR56_ENST00000568908.1_Silent_p.G282G|GPR56_ENST00000567835.1_Silent_p.G282G|GPR56_ENST00000538815.1_Silent_p.G282G|GPR56_ENST00000456916.1_Silent_p.G282G|GPR56_ENST00000379694.4_Silent_p.G112G|GPR56_ENST00000388812.4_Silent_p.G282G|GPR56_ENST00000379696.3_Silent_p.G282G|GPR56_ENST00000562558.1_Silent_p.G282G|GPR56_ENST00000388813.5_Silent_p.G282G Q9Y653 GPR56_HUMAN G protein-coupled receptor 56 282 brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1) 15 GCCGGAGCGGGGAGGCTGAGA 0.587000 7 40 0 0 1 0 0 PIK3R5 23533 broad.mit.edu 37 17 8812440 8812440 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr17:8812440G>A ENST00000447110.1 - 3 279 c.155C>T c.(154-156)cCg>cTg p.P52L PIK3R5_ENST00000584803.1_Missense_Mutation_p.P52L|PIK3R5_ENST00000581552.1_Missense_Mutation_p.P52L NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 52 Heterodimerization (By similarity). platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 GAAGTGGCCCGGGTCCCTGCT 0.592000 3 30 0 0 1 0 0 MBD5 55777 broad.mit.edu 37 2 149226535 149226535 + Silent SNP A A G TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr2:149226535A>G ENST00000407073.1 + 9 2020 c.1023A>G c.(1021-1023)ccA>ccG p.P341P MBD5_ENST00000404807.1_Silent_p.P341P NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 341 Pro-rich. chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) CCCCTCCTCCACCTTCTTGTG 0.428000 13 58 0 0 1 0 0 SERPINB10 5273 broad.mit.edu 37 18 61602476 61602476 + Nonstop_Mutation SNP A A T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr18:61602476A>T ENST00000238508.3 + 8 1253 c.1194A>T c.(1192-1194)taA>taT p.*398Y AC009802.1_ENST00000599868.1_Intron NM_005024.1 NP_005015.1 serpin peptidase inhibitor, clade B (ovalbumin), member 10 breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2) 24 Esophageal squamous(42;0.131) GCTCCCCCTAAATCCTGCATA 0.363000 43 211 0 0 1 0 0 MC2R 4158 broad.mit.edu 37 18 13885277 13885277 + Missense_Mutation SNP T T A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr18:13885277T>A ENST00000327606.3 - 2 421 c.241A>T c.(241-243)Aat>Tat p.N81Y NM_000529.2 NP_000520.1 Q01718 ACTHR_HUMAN melanocortin 2 receptor (adrenocorticotropic hormone) 81 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Corticotropin(DB01285)|Cosyntropin(DB01284) ATCAGGATATTTTCCAAGATC 0.448000 108 43 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152451872 152451872 + Silent SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr6:152451872G>A ENST00000367255.5 - 145 26737 c.26136C>T c.(26134-26136)gtC>gtT p.V8712V SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000539504.1_Silent_p.V867V|SYNE1_ENST00000423061.1_Silent_p.V8664V|SYNE1_ENST00000265368.4_Silent_p.V8712V|SYNE1_ENST00000448038.1_Silent_p.V8664V|SYNE1_ENST00000354674.4_Silent_p.V890V|SYNE1_ENST00000341594.5_Silent_p.V8324V|SYNE1_ENST00000356820.4_Silent_p.V3236V NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8712 Ser-rich. 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) GTGGACTGCTGACAGAGGGTC 0.468000 HNSCC(10;0.0054) 8 34 0 0 1 0 0 ZNF71 58491 broad.mit.edu 37 19 57132929 57132929 + Missense_Mutation SNP C C T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr19:57132929C>T ENST00000328070.6 + 3 508 c.274C>T c.(274-276)Cgg>Tgg p.R92W NM_021216.4 NP_067039.1 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 92 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) GGTCCCACCACGGCTGGACGA 0.582000 5 82 0 0 1 0 0 SLC39A12 221074 broad.mit.edu 37 10 18270411 18270411 + Splice_Site SNP G G C TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr10:18270411G>C ENST00000377369.2 + 6 1368 c.1096_splice c.e6+1 p.E365_splice SLC39A12_ENST00000539911.1_Splice_Site_p.E231_splice|SLC39A12_ENST00000377374.4_Splice_Site_p.E365_splice|SLC39A12_ENST00000377371.3_Splice_Site_p.E365_splice NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 365 zinc ion transport integral to membrane metal ion transmembrane transporter activity p.E365D(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 CCACTCTGGAGAGTAAGTTCT 0.443000 10 39 0 0 1 0 0 INTS6 26512 broad.mit.edu 37 13 51957877 51957877 + Splice_Site SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr13:51957877G>A ENST00000311234.4 - 8 1367 c.894_splice c.e8-1 p.P299_splice INTS6_ENST00000398119.2_Splice_Site_p.P286_splice|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000490542.1_5'UTR|INTS6_ENST00000420668.2_3'UTR|INTS6_ENST00000497989.1_Splice_Site_p.P121_splice|INTS6_ENST00000425000.1_5'UTR NM_012141.2 NP_036273.1 Q9UL03 INT6_HUMAN integrator complex subunit 6 299 snRNA processing actin cytoskeleton|integrator complex protein binding|transmembrane receptor activity p.P299S(1) NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;7.7e-08) GTACGAGGTGGCTAAAGGGGA 0.353000 10 91 0 0 1 0 0 PRB3 5544 broad.mit.edu 37 12 11421068 11421068 + RNA SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr12:11421068G>A ENST00000381842.3 - 0 152 PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) TGTGGGCGTCGTCCTTCTGGC 0.547000 22 189 0 0 1 0 0 ATP1A2 477 broad.mit.edu 37 1 160104995 160104995 + Silent SNP C C T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr1:160104995C>T ENST00000361216.3 + 15 2114 c.2025C>T c.(2023-2025)ctC>ctT p.L675L ATP1A2_ENST00000392233.3_Silent_p.L675L|ATP1A2_ENST00000472488.1_3'UTR NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 675 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CGGAGCAGCTCGATGAGATCC 0.577000 34 59 0 0 1 0 0 PARP8 79668 broad.mit.edu 37 5 50091099 50091099 + Missense_Mutation SNP C C T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr5:50091099C>T ENST00000281631.5 + 12 1434 c.1276C>T c.(1276-1278)Cac>Tac p.H426Y PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505554.1_Missense_Mutation_p.H405Y|PARP8_ENST00000514067.2_Missense_Mutation_p.H426Y|PARP8_ENST00000505697.2_Missense_Mutation_p.H426Y|PARP8_ENST00000514342.2_Missense_Mutation_p.H179Y|PARP8_ENST00000503750.2_Missense_Mutation_p.H426Y NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 426 intracellular NAD+ ADP-ribosyltransferase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) ACTGAAAAATCACAAATTGCT 0.448000 24 177 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 107012588 107012588 + Missense_Mutation SNP C C A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr10:107012588C>A ENST00000369701.3 + 23 3388 c.3161C>A c.(3160-3162)aCt>aAt p.T1054N NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 1054 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GGTCTCCCCACTTCAGCAGAG 0.517000 30 69 2.49675e-24 3.06205e-24 1 1 0 FAM184A 79632 broad.mit.edu 37 6 119345170 119345170 + Missense_Mutation SNP C C A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr6:119345170C>A ENST00000338891.7 - 2 1411 c.968G>T c.(967-969)tGc>tTc p.C323F FAM184A_ENST00000522284.1_Missense_Mutation_p.C203F|FAM184A_ENST00000368475.4_Missense_Mutation_p.C203F|FAM184A_ENST00000521531.1_Missense_Mutation_p.C323F|FAM184A_ENST00000352896.5_Missense_Mutation_p.C203F|RP11-351A11.1_ENST00000518570.1_RNA NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A 323 breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 AAGCTTTTGGCATTTGTCAAG 0.333000 4 213 1 1 1 1 0 CDH11 1009 broad.mit.edu 37 16 65032522 65032522 + Missense_Mutation SNP G G T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr16:65032522G>T ENST00000394156.3 - 4 919 c.466C>A c.(466-468)Cct>Act p.P156T CDH11_ENST00000566827.1_Missense_Mutation_p.P30T|CDH11_ENST00000268603.4_Missense_Mutation_p.P156T P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 156 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) AACTCCGGAGGGTTGTCATTA 0.587000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 9 95 7.48243e-07 8.6081e-07 1 1 0 FAM169A 26049 broad.mit.edu 37 5 74091962 74091962 + Missense_Mutation SNP C C T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr5:74091962C>T ENST00000389156.4 - 11 1243 c.1153G>A c.(1153-1155)Gaa>Aaa p.E385K FAM169A_ENST00000380515.3_3'UTR|FAM169A_ENST00000510496.1_Missense_Mutation_p.E325K NM_015566.2 NP_056381.1 Q9Y6X4 F169A_HUMAN family with sequence similarity 169, member A 385 Asp/Glu-rich. breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 27 TCAGGTTCTTCTTCCAGGAAT 0.423000 13 207 0 0 1 0 0 IL9R 3581 broad.mit.edu 37 X 155232635 155232635 + Nonsense_Mutation SNP C C A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chrX:155232635C>A ENST00000424344.3 + 3 397 c.30C>A c.(28-30)tgC>tgA p.C10* IL9R_ENST00000369423.2_Nonsense_Mutation_p.C78*|IL9R_ENST00000540897.1_Nonsense_Mutation_p.C68*|IL9R_ENST00000244174.5_Nonsense_Mutation_p.C31* Q01113 IL9R_HUMAN interleukin 9 receptor 31 cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1) 23 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CCTGCATCTGCATCTGCACCT 0.597000 51 134 6.14515e-18 7.46607e-18 1 1 0 CACNA1E 777 broad.mit.edu 37 1 181745355 181745355 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr1:181745355G>A ENST00000526775.1 + 37 5366 c.5201G>A c.(5200-5202)cGa>cAa p.R1734Q CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1704Q|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1734Q|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1685Q|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1360Q|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1753Q|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1753Q NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1753 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GAATATGACCGAGCAGCATGG 0.612000 6 168 0 0 1 0 0 CDC20 991 broad.mit.edu 37 1 43825460 43825460 + Missense_Mutation SNP G G C TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr1:43825460G>C ENST00000372462.1 + 3 598 c.395G>C c.(394-396)cGg>cCg p.R132P CDC20_ENST00000478882.1_3'UTR|CDC20_ENST00000310955.6_Missense_Mutation_p.R132P Q12834 CDC20_HUMAN cell division cycle 20 132 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle cytosol|nucleoplasm|spindle enzyme binding|protein C-terminus binding endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 15 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) AAGATCCTTCGGCTCAGTGGA 0.502000 102 164 0 0 1 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18955550 18955550 + Missense_Mutation SNP G G T rs150108666 TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr11:18955550G>T ENST00000302797.3 - 1 1006 c.782C>A c.(781-783)tCc>tAc p.S261Y NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 261 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 GTTAAGAGCGGACAGGAAAAT 0.463000 33 97 1.61788e-16 1.94745e-16 1 1 0 PCDH12 51294 broad.mit.edu 37 5 141336689 141336689 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr5:141336689G>A ENST00000231484.3 - 1 1938 c.728C>T c.(727-729)gCg>gTg p.A243V NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 243 Cadherin 2. neuron recognition integral to plasma membrane calcium ion binding p.A243V(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCAGCAAACGCAGGGCTATT 0.512000 24 93 0 0 1 0 0 UBA6 55236 broad.mit.edu 37 4 68490887 68490887 + Missense_Mutation SNP A A G TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr4:68490887A>G ENST00000322244.4 - 29 2596 c.2537T>C c.(2536-2538)gTg>gCg p.V846A NM_018227.5 NP_060697.4 A0AVT1 UBA6_HUMAN ubiquitin-like modifier activating enzyme 6 846 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2) 44 AAATGAAAGCACTGCCATCTG 0.368000 4 150 0 0 1 0 0 MARCH5 54708 broad.mit.edu 37 10 94109572 94109572 + Missense_Mutation SNP C C A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr10:94109572C>A ENST00000358935.2 + 5 1030 c.698C>A c.(697-699)tCt>tAt p.S233Y NM_017824.4 NP_060294.1 Q9NX47 MARH5_HUMAN membrane-associated ring finger (C3HC4) 5 233 cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane GTPase binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 9 AGTGTTAACTCTAATTTACAA 0.358000 4 167 1 1 1 1 0 CACNA1S 779 broad.mit.edu 37 1 201046135 201046135 + Silent SNP G G C TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr1:201046135G>C ENST00000362061.3 - 12 1966 c.1740C>G c.(1738-1740)ctC>ctG p.L580L CACNA1S_ENST00000367338.3_Silent_p.L580L NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 580 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TCCCCCCAAAGAGCTGCATGC 0.572000 16 145 0 0 1 0 0 OR1L4 254973 broad.mit.edu 37 9 125486377 125486377 + Missense_Mutation SNP C C A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr9:125486377C>A ENST00000259466.1 + 1 109 c.109C>A c.(109-111)Cta>Ata p.L37I NM_001005235.1 NP_001005235.1 Q8NGR5 OR1L4_HUMAN olfactory receptor, family 1, subfamily L, member 4 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1) 20 CATCATGTACCTACTCACTGC 0.498000 15 246 2.61681e-11 3.06474e-11 1 1 0 BLVRB 645 broad.mit.edu 37 19 40971542 40971542 + Silent SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr19:40971542G>A ENST00000263368.4 - 1 205 c.54C>T c.(52-54)acC>acT p.T18T BLVRB_ENST00000595483.1_Silent_p.T18T NM_000713.2 NP_000704.1 P30043 BLVRB_HUMAN biliverdin reductase B (flavin reductase (NADPH)) 18 heme catabolic process cytosol biliverdin reductase activity|binding|flavin reductase activity large_intestine(3)|lung(3) 6 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) NADH(DB00157)|Riboflavin(DB00140) GCGCCAGGGTGGTGAGCCCGG 0.687000 11 26 0 0 1 0 0 TTC23 64927 broad.mit.edu 37 15 99762036 99762036 + Missense_Mutation SNP C C T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr15:99762036C>T ENST00000394132.2 - 6 1031 c.214G>A c.(214-216)Gta>Ata p.V72I TTC23_ENST00000394136.1_Missense_Mutation_p.V72I|TTC23_ENST00000262074.4_Missense_Mutation_p.V72I|TTC23_ENST00000394130.1_Missense_Mutation_p.V72I|TTC23_ENST00000394135.3_Missense_Mutation_p.V72I|TTC23_ENST00000558663.1_Missense_Mutation_p.V72I|TTC23_ENST00000394129.2_Missense_Mutation_p.V72I|TTC23_ENST00000558613.1_Missense_Mutation_p.V72I Q5W5X9 TTC23_HUMAN tetratricopeptide repeat domain 23 72 binding endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2) 16 all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215) GTCAGTGCTACGCAACGCACA 0.448000 14 48 0 0 1 0 0 OR51F2 119694 broad.mit.edu 37 11 4843392 4843392 + Silent SNP C C A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr11:4843392C>A ENST00000322110.5 + 1 842 c.777C>A c.(775-777)atC>atA p.I259I MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004753.1 NP_001004753.1 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, member 2 259 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) CATCCCACATCAGTGCTGTTT 0.493000 22 72 7.45023e-12 8.80481e-12 1 1 0 CTSL 1514 broad.mit.edu 37 9 90343233 90343233 + Silent SNP C C T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr9:90343233C>T ENST00000343150.5 + 4 1208 c.318C>T c.(316-318)ttC>ttT p.F106F CTSL_ENST00000495822.1_Intron|CTSL_ENST00000342020.5_Silent_p.F106F|CTSL_ENST00000340342.6_Silent_p.F106F cathepsin L GGAAAGTGTTCCAGGAACCTC 0.458000 15 114 0 0 1 0 0 UBE2L6 9246 broad.mit.edu 37 11 57327824 57327824 + Missense_Mutation SNP C C T rs35921478 byFrequency TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr11:57327824C>T ENST00000287156.4 - 2 304 c.109G>A c.(109-111)Gct>Act p.A37T UBE2L6_ENST00000340573.4_5'UTR NM_004223.4 NP_004214.1 O14933 UB2L6_HUMAN ubiquitin-conjugating enzyme E2L 6 37 negative regulation of type I interferon production cytosol protein binding|ubiquitin-protein ligase activity large_intestine(1)|lung(3)|ovary(1) 5 AGGAGGAGAGCGTGCCACACC 0.572000 4 216 0 0 1 0 0 COL6A2 1292 broad.mit.edu 37 21 47545457 47545457 + Missense_Mutation SNP C C A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr21:47545457C>A ENST00000300527.4 + 25 1999 c.1895C>A c.(1894-1896)aCa>aAa p.T632K COL6A2_ENST00000397763.1_Missense_Mutation_p.T632K|COL6A2_ENST00000357838.4_Missense_Mutation_p.T632K|COL6A2_ENST00000409416.1_Missense_Mutation_p.T632K|COL6A2_ENST00000310645.5_Missense_Mutation_p.T632K NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 632 Nonhelical region.|VWFA 2. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) ACCAACTTCACACTGGAGAAG 0.617000 3 42 0.004672 0.00510387 1 1 0 ABCC10 89845 broad.mit.edu 37 6 43400422 43400422 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr6:43400422G>A ENST00000244533.3 + 1 934 c.575G>A c.(574-576)cGt>cAt p.R192H ABCC10_ENST00000372530.4_Missense_Mutation_p.R235H|ABCC10_ENST00000443426.2_Intron NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 235 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) TTGCTGGCCCGTGGGGCCTGT 0.637000 11 66 0 0 1 0 0 TANGO6 79613 broad.mit.edu 37 16 68912102 68912102 + Missense_Mutation SNP T T C TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr16:68912102T>C ENST00000261778.1 + 6 1225 c.1213T>C c.(1213-1215)Tca>Cca p.S405P NM_024562.1 NP_078838.1 transport and golgi organization 6 homolog (Drosophila) TATAACTTTGTCAAGAGAACG 0.403000 3 45 0 0 1 0 0 MIR147A 406939 broad.mit.edu 37 9 123007320 123007320 + RNA SNP C C A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr9:123007320C>A ENST00000385079.1 - 0 8 NR_029604.1 GAAATGTTGTCTTTAGATTCA 0.468000 11 88 3.86212e-05 4.36587e-05 1 1 0 TRAK1 22906 broad.mit.edu 37 3 42264759 42264759 + Nonsense_Mutation SNP G G T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr3:42264759G>T ENST00000327628.5 + 16 2792 c.2392G>T c.(2392-2394)Gag>Tag p.E798* TRAK1_ENST00000396175.1_Nonsense_Mutation_p.E740*|TRAK1_ENST00000487159.1_3'UTR NM_001042646.2 NP_001036111.1 Q9UPV9 TRAK1_HUMAN trafficking protein, kinesin binding 1 798 endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 ACCCTCCTTTGAGTTCAAGTG 0.592000 3 34 1 1 1 1 0 LYAR 55646 broad.mit.edu 37 4 4281210 4281210 + Missense_Mutation SNP G G C TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr4:4281210G>C ENST00000343470.4 - 6 633 c.393C>G c.(391-393)gaC>gaG p.D131E LYAR_ENST00000452476.1_Missense_Mutation_p.D131E NM_017816.2 NP_060286.1 Q9NX58 LYAR_HUMAN Ly1 antibody reactive 131 nucleolus metal ion binding|protein binding endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1) 17 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TCCACACCTGGTCCAGAATGG 0.338000 39 63 0 0 1 0 0 PLEK2 26499 broad.mit.edu 37 14 67864498 67864498 + Nonsense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr14:67864498G>A ENST00000216446.4 - 2 228 c.88C>T c.(88-90)Cag>Tag p.Q30* PLEK2_ENST00000557388.1_5'UTR NM_016445.1 NP_057529.1 Q9NYT0 PLEK2_HUMAN pleckstrin 2 30 PH 1. actin cytoskeleton organization|intracellular signal transduction cytoplasm|cytoskeleton|lamellipodium membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 15 all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953) AGCGTGTTCTGCCGAAGGATG 0.602000 9 24 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43881682 43881682 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr1:43881682G>A ENST00000562955.1 + 6 682 c.682G>A c.(682-684)Gtc>Atc p.V228I NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 228 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GAAGGTAGGCGTCTCCATGGT 0.552000 8 26 0 0 1 0 0 ZG16B 124220 broad.mit.edu 37 16 2880259 2880259 + Missense_Mutation SNP A A C TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr16:2880259A>C ENST00000382280.3 + 1 90 c.11A>C c.(10-12)cAg>cCg p.Q4P NM_145252.2 NP_660295.2 Q96DA0 ZG16B_HUMAN zymogen granule protein 16B 4 extracellular region sugar binding central_nervous_system(1)|lung(2)|ovary(1)|prostate(1) 5 ATGGGGGCCCAGGGGGCCCAG 0.687000 3 23 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130927171 130927171 + Silent SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr12:130927171G>A ENST00000261655.4 - 8 838 c.675C>T c.(673-675)ccC>ccT p.P225P RIMBP2_ENST00000535703.1_Silent_p.P133P|RIMBP2_ENST00000536002.1_Silent_p.P133P NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 225 SH3 1. cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) CGAAGTTGGAGGGCACCAGAC 0.597000 34 46 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152728244 152728244 + Missense_Mutation SNP C C G TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr6:152728244C>G ENST00000367255.5 - 45 7229 c.6628G>C c.(6628-6630)Gag>Cag p.E2210Q SYNE1_ENST00000423061.1_Missense_Mutation_p.E2217Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2210Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2217Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E2247Q NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2210 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) GACCATCCCTCAATCTCATCT 0.428000 HNSCC(10;0.0054) 8 127 0 0 1 0 0 PTPRF 5792 broad.mit.edu 37 1 44044587 44044587 + Silent SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr1:44044587G>A ENST00000359947.4 + 7 1015 c.675G>A c.(673-675)gtG>gtA p.V225V PTPRF_ENST00000438120.1_Silent_p.V225V|PTPRF_ENST00000372413.3_Silent_p.V225V|PTPRF_ENST00000372414.3_Silent_p.V225V NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 225 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ACCTGTATGTGCGAGGTAAGG 0.612000 3 39 0 0 1 0 0 TTC1 7265 broad.mit.edu 37 5 159476610 159476610 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr5:159476610G>A ENST00000231238.5 + 6 741 c.631G>A c.(631-633)Gac>Aac p.D211N TTC1_ENST00000522793.1_Missense_Mutation_p.D211N|TTC1_ENST00000520274.1_3'UTR NM_003314.1 NP_003305.1 Q99614 TTC1_HUMAN tetratricopeptide repeat domain 1 211 protein folding unfolded protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1) 12 Renal(175;0.00196) all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402) AGCCCTGGAAGACTATAAATC 0.333000 5 52 0 0 1 0 0 ITGB6 3694 broad.mit.edu 37 2 161029176 161029176 + Silent SNP A A G TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr2:161029176A>G ENST00000283249.2 - 6 1062 c.825T>C c.(823-825)caT>caC p.H275H ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409967.2_Silent_p.H275H|ITGB6_ENST00000409872.1_Silent_p.H275H|ITGB6_ENST00000428609.2_Silent_p.H233H P18564 ITB6_HUMAN integrin, beta 6 275 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 CCATTCCAAAATGAGAATCAG 0.448000 10 213 0 0 1 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140712481 140712481 + Missense_Mutation SNP G G T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr5:140712481G>T ENST00000517417.1 + 1 2230 c.2230G>T c.(2230-2232)Gac>Tac p.D744Y PCDHGA1_ENST00000378105.3_Missense_Mutation_p.D744Y NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTGGGCGTGGACGGGGTTCG 0.642000 4 109 0.150653 0.157943 1 1 0 RIMS2 9699 broad.mit.edu 37 8 104897724 104897724 + Silent SNP A A G TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr8:104897724A>G ENST00000507740.1 + 2 557 c.321A>G c.(319-321)agA>agG p.R107R RIMS2_ENST00000406091.3_Silent_p.R299R|RIMS2_ENST00000436393.2_Silent_p.R77R|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000262231.10_Silent_p.R107R NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 330 RabBD. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CCAACAGGAGAAGTCATAGGC 0.413000 HNSCC(12;0.0054) 4 151 0 0 1 0 0 HYOU1 10525 broad.mit.edu 37 11 118925377 118925377 + Silent SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr11:118925377G>A ENST00000404233.3 - 7 631 c.507C>T c.(505-507)atC>atT p.I169I HYOU1_ENST00000525859.1_Silent_p.I169I|HYOU1_ENST00000529972.1_Silent_p.I169I|HYOU1_ENST00000543287.1_Silent_p.I82I NM_001130991.1|NM_006389.3 NP_001124463.1|NP_006380.1 Q9Y4L1 HYOU1_HUMAN hypoxia up-regulated 1 169 endoplasmic reticulum lumen ATP binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2) 33 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.78e-05) CTGCATCCTTGATGGGCTGCT 0.542000 9 26 0 0 1 0 0 PEAK1 79834 broad.mit.edu 37 15 77407481 77407481 + Missense_Mutation SNP C C G TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr15:77407481C>G ENST00000560626.2 - 7 4733 c.4258G>C c.(4258-4260)Gag>Cag p.E1420Q PEAK1_ENST00000312493.4_Missense_Mutation_p.E1420Q Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 1420 Protein kinase. cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding TCTTCAGTCTCTTCCATGTCA 0.498000 6 160 0 0 1 0 0 TRIM51HP 440041 broad.mit.edu 37 11 55065040 55065040 + RNA SNP T T A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr11:55065040T>A ENST00000526016.1 - 0 385 NR_038174.2 CATTTTTTTTTAGGAGCTCCT 0.393000 29 40 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141806556 141806556 + Splice_Site SNP A A G TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr2:141806556A>G ENST00000389484.3 - 11 2759 c.1789_splice c.e11+1 p.D596_splice NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 596 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GTCACTTACCATCTTTCAGGA 0.418000 TSP Lung(27;0.18) 45 148 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1275954 1275954 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr11:1275954G>A ENST00000447027.1 + 35 15575 c.15517G>A c.(15517-15519)Ggt>Agt p.G5173S MUC5B_ENST00000529681.1_Missense_Mutation_p.G5170S Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 5170 VWFD 4. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GGTGAGCAGCGGTTTCAGCAA 0.607000 11 31 0 0 1 0 0 CARS 833 broad.mit.edu 37 11 3061081 3061081 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr11:3061081G>A ENST00000397114.3 - 5 633 c.257C>T c.(256-258)aCg>aTg p.T86M CARS_ENST00000401769.3_Missense_Mutation_p.T109M|CARS_ENST00000397111.5_Missense_Mutation_p.T96M|CARS_ENST00000278224.9_Missense_Mutation_p.T96M|CARS-AS1_ENST00000499962.1_RNA|CARS_ENST00000380525.4_Missense_Mutation_p.T179M P49589 SYCC_HUMAN cysteinyl-tRNA synthetase 96 cysteinyl-tRNA aminoacylation cytoplasm|cytosol ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding CARS/ALK(5) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1) 31 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218) L-Cysteine(DB00151) ATCAATATCCGTAATGTTCAT 0.294000 T ALK ALCL 4 42 0 0 1 0 0 CLEC1A 51267 broad.mit.edu 37 12 10233841 10233841 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr12:10233841G>A ENST00000315330.4 - 3 448 c.386C>T c.(385-387)gCt>gTt p.A129V CLEC1A_ENST00000457018.2_Missense_Mutation_p.A96V|CLEC1A_ENST00000420265.2_Intron NM_016511.2 NP_057595.2 Q8NC01 CLC1A_HUMAN C-type lectin domain family 1, member A 129 cell surface receptor linked signaling pathway|defense response integral to plasma membrane|intracellular sugar binding|transmembrane receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 23 CTTACCTCCAGCTTTGTTATA 0.453000 13 264 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176525894 176525894 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr1:176525894G>A ENST00000367662.3 + 2 1600 c.436G>A c.(436-438)Gct>Act p.A146T PAPPA2_ENST00000367661.3_Missense_Mutation_p.A146T NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 146 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 AGATGATGACGCTTATCTCGG 0.542000 6 209 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32635464 32635464 + Silent SNP C C T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr9:32635464C>T ENST00000242310.4 - 1 203 c.114G>A c.(112-114)gcG>gcA p.A38A 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 38 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 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) AAAGGATACCCGCTAAAGTAA 0.567000 7 153 0 0 1 0 0 SSH1 54434 broad.mit.edu 37 12 109182226 109182226 + Missense_Mutation SNP C C A rs148301801 TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr12:109182226C>A ENST00000326495.5 - 15 2781 c.2688G>T c.(2686-2688)aaG>aaT p.K896N SSH1_ENST00000360239.3_Missense_Mutation_p.K584N NM_018984.3 NP_061857.3 Q8WYL5 SSH1_HUMAN slingshot protein phosphatase 1 896 actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GAGGGGGGCTCTTCAGTGAGC 0.597000 26 72 3.6726e-16 4.38017e-16 1 1 0 LAMA1 284217 broad.mit.edu 37 18 7080343 7080343 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr18:7080343G>A ENST00000389658.3 - 2 268 c.175C>T c.(175-177)Cgg>Tgg p.R59W NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 59 Laminin N-terminal. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CGGACGGGCCGACCTGGCACA 0.547000 72 110 0 0 1 0 0 AMIGO1 57463 broad.mit.edu 37 1 110051444 110051444 + Missense_Mutation SNP C C T rs139908524 TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr1:110051444C>T ENST00000369864.4 - 2 440 c.91G>A c.(91-93)Gtg>Atg p.V31M AMIGO1_ENST00000369862.1_Missense_Mutation_p.V31M Q86WK6 AMGO1_HUMAN adhesion molecule with Ig-like domain 1 31 LRRNT. axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis axon|integral to membrane autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227) CAGCTAACCACGGCTCGGCCA 0.627000 11 29 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059150 146059150 + Missense_Mutation SNP G G T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr4:146059150G>T ENST00000454497.2 - 21 2719 c.2582C>A c.(2581-2583)gCa>gAa p.A861E OTUD4_ENST00000447906.2_Missense_Mutation_p.A926E|OTUD4_ENST00000455611.2_Intron NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 925 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) GCTCACACTTGCTTCAGGGAG 0.498000 4 126 1 1 1 1 0 ZNF835 90485 broad.mit.edu 37 19 57175917 57175917 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr19:57175917G>A ENST00000537055.2 - 2 881 c.650C>T c.(649-651)aCg>aTg p.T217M NM_001005850.2 NP_001005850.2 zinc finger protein 835 p.T239M(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 CCGCTCGCCCGTGTGCACGCG 0.711000 7 18 0 0 1 0 0 PAMR1 25891 broad.mit.edu 37 11 35454125 35454125 + Missense_Mutation SNP A A G TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr11:35454125A>G ENST00000378880.2 - 11 2387 c.1942T>C c.(1942-1944)Ttc>Ctc p.F648L PAMR1_ENST00000278360.3_Missense_Mutation_p.F665L|PAMR1_ENST00000378878.3_Missense_Mutation_p.F537L|PAMR1_ENST00000532848.1_Missense_Mutation_p.F608L NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 648 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 CTGGCACAGAACATGTTATCA 0.597000 15 42 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22156525 22156525 + Silent SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr19:22156525G>A ENST00000397126.4 - 4 1459 c.1311C>T c.(1309-1311)tcC>tcT p.S437S ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TAAGGTTTGAGGACCAGTTGA 0.378000 12 169 0 0 1 0 0 RIMS1 22999 broad.mit.edu 37 6 73023290 73023290 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr6:73023290G>A ENST00000264839.7 + 24 3592 c.3592G>A c.(3592-3594)Gcc>Acc p.A1198T RIMS1_ENST00000517960.1_Missense_Mutation_p.A1141T|RIMS1_ENST00000491071.2_Missense_Mutation_p.A1172T|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000401910.3_Missense_Mutation_p.A669T|RIMS1_ENST00000538414.1_Missense_Mutation_p.A155T|RIMS1_ENST00000348717.5_Missense_Mutation_p.A1141T|RIMS1_ENST00000521978.1_Missense_Mutation_p.A1349T|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000523963.1_Intron Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1349 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) TGATGTTTCCGCCATTTCCCG 0.448000 11 36 0 0 1 0 0 FXR1 8087 broad.mit.edu 37 3 180688116 180688116 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr3:180688116G>A ENST00000357559.4 + 15 1957 c.1573G>A c.(1573-1575)Gat>Aat p.D525N FXR1_ENST00000480918.1_Missense_Mutation_p.D512N|FXR1_ENST00000305586.7_Missense_Mutation_p.D440N|FXR1_ENST00000468861.1_Missense_Mutation_p.D440N|FXR1_ENST00000491062.1_Missense_Mutation_p.D476N|FXR1_ENST00000445140.2_Missense_Mutation_p.D525N NM_001013438.2|NM_005087.3 NP_001013456.1|NP_005078.2 P51114 FXR1_HUMAN fragile X mental retardation, autosomal homolog 1 525 apoptosis|cell differentiation|muscle organ development nucleolus|polysome breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2) 26 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) GACTGAATCTGATACAGCTTC 0.353000 12 206 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238269816 238269816 + Splice_Site SNP C C A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr2:238269816C>A ENST00000295550.4 - 16 6610 c.6156_splice c.e16-1 p.G2053_splice COL6A3_ENST00000409809.1_Splice_Site_p.G1847_splice|COL6A3_ENST00000347401.3_Splice_Site_p.G1852_splice|COL6A3_ENST00000346358.4_Splice_Site_p.G1853_splice|COL6A3_ENST00000353578.4_Splice_Site_p.G1847_splice|COL6A3_ENST00000472056.1_Splice_Site_p.G1446_splice NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2053 Collagen-like 1.|Triple-helical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TCCAGGAATACCCTGAAACAA 0.478000 4 72 2.56e-06 2.9193e-06 1 1 0 TET1 80312 broad.mit.edu 37 10 70405419 70405419 + Missense_Mutation SNP C C G TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr10:70405419C>G ENST00000373644.4 + 4 3142 c.2933C>G c.(2932-2934)tCc>tGc p.S978C NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 978 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding p.S978C(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 ACTACCCTTTCCAACTCACAT 0.363000 17 72 0 0 1 0 0 SLC25A19 60386 broad.mit.edu 37 17 73282528 73282528 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr17:73282528G>A ENST00000402418.3 - 2 1054 c.145C>T c.(145-147)Cgc>Tgc p.R49C SLC25A19_ENST00000416858.2_Missense_Mutation_p.R49C|SLC25A19_ENST00000320362.3_Missense_Mutation_p.R49C|SLC25A19_ENST00000375261.4_Missense_Mutation_p.R49C|SLC25A19_ENST00000580994.1_Missense_Mutation_p.R49C|SLC25A19_ENST00000442286.2_Missense_Mutation_p.R49C Q9HC21 TPC_HUMAN solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 49 integral to membrane|mitochondrial inner membrane binding|deoxynucleotide transmembrane transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 9 all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08) all cancers(21;6.82e-07)|Epithelial(20;6.86e-06) CGAGACAGGCGCTCATGCTGA 0.532000 4 118 0 0 1 0 0 PTEN 5728 broad.mit.edu 37 10 89692944 89692944 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr10:89692944G>A ENST00000371953.3 + 5 1785 c.428G>A c.(427-429)gGc>gAc p.G143D NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 143 Phosphatase tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(5)|p.R55fs*1(5)|p.G143fs*4(2)|p.Y27fs*1(2)|p.A121_F145del(1)|p.F56fs*2(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TTACATCGGGGCAAATTTTTA 0.388000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 4 146 0 0 1 0 0 KRT38 8687 broad.mit.edu 37 17 39593678 39593678 + Missense_Mutation SNP C C T rs148086126 byFrequency TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr17:39593678C>T ENST00000246646.3 - 7 1356 c.1357G>A c.(1357-1359)Gga>Aga p.G453R NM_006771.3 NP_006762.3 O76015 KRT38_HUMAN keratin 38 453 Tail. intermediate filament structural molecule activity p.G453R(1) breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 29 Breast(137;0.000496) AATCGGCTTCCGGTGGTGCTG 0.592000 8 9 0 0 1 0 0 RGS7 6000 broad.mit.edu 37 1 240966240 240966240 + Silent SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr1:240966240G>A ENST00000366565.1 - 16 1704 c.1323C>T c.(1321-1323)tcC>tcT p.S441S RGS7_ENST00000366562.4_Silent_p.S441S|RGS7_ENST00000446183.2_Silent_p.S357S|RGS7_ENST00000348120.2_Silent_p.S388S|RGS7_ENST00000407727.1_Silent_p.S441S|RGS7_ENST00000331110.7_Silent_p.S415S|RGS7_ENST00000366564.1_Silent_p.S441S|RGS7_ENST00000401882.1_Silent_p.S388S|RGS7_ENST00000366563.1_Silent_p.S441S NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 441 RGS. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity p.S441S(2) breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) GATAGGCACTGGATCTTATAA 0.348000 19 189 0 0 1 0 0 EFEMP2 30008 broad.mit.edu 37 11 65638052 65638052 + Missense_Mutation SNP A A T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr11:65638052A>T ENST00000307998.6 - 5 675 c.445T>A c.(445-447)Tgc>Agc p.C149S EFEMP2_ENST00000528176.1_Missense_Mutation_p.C149S NM_016938.4 NP_058634.4 O95967 FBLN4_HUMAN EGF containing fibulin-like extracellular matrix protein 2 149 EGF-like 2; calcium-binding (Potential). blood coagulation basement membrane|membrane calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 READ - Rectum adenocarcinoma(159;0.169) GGGCAGGTGCACTGATAGGAG 0.622000 13 27 0 0 1 0 0 ST6GALNAC5 81849 broad.mit.edu 37 1 77334292 77334293 + In_Frame_Ins INS - - CAGCAA rs60179124 by1000genomes TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr1:77334292_77334293insCAGCAA ENST00000477717.1 + 2 361_362 c.126_127insCAGCAA c.(124-129)caagca>caCAGCAAagca p.42_42Q>HSK ST6GALNAC5_ENST00000496845.1_3'UTR NM_030965.1 NP_112227.1 Q9BVH7 SIA7E_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 42 Poly-Gln. protein glycosylation integral to Golgi membrane sialyltransferase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 18 agcagcagcagcagcagcaaca 0.713 14 20 --- --- --- --- RPTN 126638 broad.mit.edu 37 1 152128205 152128208 + Frame_Shift_Del DEL TGTC TGTC - TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr1:152128205_152128208delTGTC ENST00000316073.3 - 3 1431_1434 c.1367_1370delGACA c.(1366-1371)aafs p.RQ456fs NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 456 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 ACTCTGGCCTTGTCTGTCTGTCTG 0.520 7 1186 --- --- --- --- ANKRD36BP2 645784 broad.mit.edu 37 2 89083945 89083946 + RNA INS - - GC TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr2:89083945_89083946insGC ENST00000393525.3 + 0 576 GTATTCCTTTTTTTTCAGTGTA 0.347 4 4 --- --- --- --- IL17RC 84818 broad.mit.edu 37 3 9970118 9970119 + Frame_Shift_Ins INS - - C TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr3:9970118_9970119insC ENST00000295981.3 + 11 1438_1439 c.1220_1221insC c.(1219-1221)gccfs p.A407fs IL17RC_ENST00000383812.4_Frame_Shift_Ins_p.A321fs|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000403601.3_Frame_Shift_Ins_p.A336fs|IL17RC_ENST00000416074.2_Frame_Shift_Ins_p.A192fs|IL17RC_ENST00000413608.1_Frame_Shift_Ins_p.A336fs|IL17RC_ENST00000455057.1_Frame_Shift_Ins_p.A321fs NM_153461.3 NP_703191.1 Q8NAC3 I17RC_HUMAN interleukin 17 receptor C 407 integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 CCGGGTGGGGACCCCTGCCAGC 0.683 7 94 --- --- --- --- GBA3 57733 broad.mit.edu 37 4 22749784 22749785 + RNA DEL TA TA - rs73803318 TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr4:22749784_22749785delTA ENST00000503442.1 + 0 377 GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA NM_001128432.2 NP_001121904.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 CAGGCatatgtatatatatata 0.342 2 4 --- --- --- --- PTGER4 5734 broad.mit.edu 37 5 40681358 40681359 + Frame_Shift_Ins INS - - C TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr5:40681358_40681359insC ENST00000302472.3 + 2 1287_1288 c.263_264insC c.(262-264)gcafs p.A88fs PTGER4_ENST00000514343.1_3'UTR NM_000958.2 NP_000949.1 P35408 PE2R4_HUMAN prostaglandin E receptor 4 (subtype EP4) 88 G-protein signaling, coupled to cAMP nucleotide second messenger|immune response integral to membrane|plasma membrane prostaglandin E receptor activity breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 TGGCCCGGGGGCCAGCCGCTGT 0.609 OREG0016588 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 267 --- --- --- --- SIMC1 375484 broad.mit.edu 37 5 175717758 175717759 + Frame_Shift_Del DEL CT CT - TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr5:175717758_175717759delCT ENST00000443967.1 + 4 1581_1582 c.1174_1175delCT c.(1174-1176)cfs p.L392fs SIMC1_ENST00000429602.2_Frame_Shift_Del_p.L411fs|SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000430704.2_Intron SUMO-interacting motifs containing 1 p.L392F(1) AGTTCCTTGGCTCTCTGTCATG 0.515 15 110 --- --- --- --- INTS4P2 644619 broad.mit.edu 37 7 65150816 65150816 + RNA DEL A A - TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr7:65150816delA ENST00000430126.2 + 0 757 TTCATCCCTCACCCCCCCCCC 0.463 4 8 --- --- --- --- MAFA 389692 broad.mit.edu 37 8 144511954 144511956 + In_Frame_Del DEL TGG TGG - TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr8:144511954_144511956delTGG ENST00000333480.2 - 1 620_622 c.621_623delCCA c.(619-624)cat>ca p.HH207del MAFA_ENST00000528185.1_5'UTR NM_201589.3 NP_963883.2 Q8NHW3 MAFA_HUMAN v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A 207 His-rich. insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus nucleus protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.H208delH(3) breast(1)|lung(1)|upper_aerodigestive_tract(2) 4 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237) CGCGCCGCCAtggtggtggtggt 0.744 HNSCC(29;0.082) 3 4 --- --- --- --- SPTY2D1 144108 broad.mit.edu 37 11 18636375 18636376 + Frame_Shift_Ins INS - - A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr11:18636375_18636376insA ENST00000336349.5 - 3 1680_1681 c.1445_1446insT c.(1444-1446)tggfs p.W482fs NM_194285.2 NP_919261.2 Q68D10 SPT2_HUMAN SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) 482 Ser-rich. breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1) 30 CCGGGGGGCCCAAGCCACTCAC 0.589 18 75 --- --- --- --- OR6C65 403282 broad.mit.edu 37 12 55794772 55794773 + Frame_Shift_Ins INS - - T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr12:55794772_55794773insT ENST00000379665.2 + 1 559_560 c.460_461insT c.(460-462)tttfs p.F154fs NM_001005518.1 NP_001005518.1 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, member 65 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 TTTTCTCATTATTTTTCCCCCC 0.436 17 415 --- --- --- --- ZHX3 23051 broad.mit.edu 37 20 39831282 39831285 + Frame_Shift_Del DEL GTTT GTTT - TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr20:39831282_39831285delGTTT ENST00000309060.3 - 4 2687_2690 c.2272_2275delAAAC c.(2272-2277)tgfs p.KL758fs ZHX3_ENST00000432768.2_Frame_Shift_Del_p.KL758fs|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Frame_Shift_Del_p.KL758fs|ZHX3_ENST00000559234.1_Frame_Shift_Del_p.KL758fs|ZHX3_ENST00000560361.1_Frame_Shift_Del_p.KL758fs|ZHX3_ENST00000540170.1_Frame_Shift_Del_p.KL758fs Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 758 negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) TGCTCTGCCAGTTTGTTTGACTCA 0.544 24 125 --- --- --- --- DIDO1 11083 broad.mit.edu 37 20 61513443 61513446 + Frame_Shift_Del DEL CTGT CTGT - rs8123160 byFrequency TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr20:61513443_61513446delCTGT ENST00000266070.4 - 16 4187_4190 c.3862_3865delACAG c.(3862-3867)cafs p.TA1288fs DIDO1_ENST00000395343.1_Frame_Shift_Del_p.TA1288fs NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1288 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) GTTGTGGCTGCTGTGGCTGGGCTG 0.632 12 119 --- --- --- --- HSPA13 6782 broad.mit.edu 37 21 15753855 15753856 + Frame_Shift_Ins INS - - C TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr21:15753855_15753856insC ENST00000285667.3 - 2 101_102 c.34_35insG c.(34-36)tttfs p.F12fs HSPA13_ENST00000478035.1_5'UTR|HSPA13_ENST00000544452.1_5'UTR NM_006948.4 NP_008879.3 P48723 HSP13_HUMAN heat shock protein 70kDa family, member 13 12 endoplasmic reticulum|microsome ATP binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 GAGAGTCAAAACAGCCGATCCT 0.366 15 22 --- --- --- ---