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 CCL7 6354 broad.mit.edu 37 17 32597292 32597292 + Translation_Start_Site SNP A A T TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr17:32597292A>T ENST00000378569.2 + 0 53 CCL7_ENST00000394627.1_De_novo_Start_InFrame|CCL7_ENST00000200307.4_Missense_Mutation_p.M5L|CCL7_ENST00000394630.3_De_novo_Start_InFrame NM_006273.2 NP_006264.2 P80098 CCL7_HUMAN chemokine (C-C motif) ligand 7 cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction extracellular space chemokine activity|heparin binding autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 7 Breast(3;0.00224) Breast(31;0.151)|Ovarian(249;0.17) BRCA - Breast invasive adenocarcinoma(366;0.155) GTGGAAGCCCATGCCCTCACC 0.547000 59 88 0 0 2.47226e-05 0 0 RTKN 6242 broad.mit.edu 37 2 74654657 74654657 + Silent SNP G G A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr2:74654657G>A ENST00000305557.5 - 11 1695 c.1110C>T c.(1108-1110)atC>atT p.I370I RTKN_ENST00000272430.5_Silent_p.I383I|RTKN_ENST00000233330.6_Silent_p.I333I NM_033046.2 NP_149035.1 Q9BST9 RTKN_HUMAN rhotekin 383 PH. apoptosis|regulation of anti-apoptosis|Rho protein signal transduction intracellular GTP binding|GTP-Rho binding|GTPase inhibitor activity endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 16 ACTGGTTACTGATGCTTAGGG 0.557000 160 590 0 0 2.47226e-05 0 0 TGOLN2 10618 broad.mit.edu 37 2 85554351 85554351 + Splice_Site SNP T T C TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr2:85554351T>C ENST00000282120.2 - 3 500 c.e3-2 TGOLN2_ENST00000398263.2_Silent_p.S168S|TGOLN2_ENST00000377386.3_Silent_p.S168S|TGOLN2_ENST00000444342.2_Silent_p.S168S|TGOLN2_ENST00000409232.3_Silent_p.S168S|TGOLN2_ENST00000409015.1_Silent_p.S168S O43493 TGON2_HUMAN trans-golgi network protein 2 integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle protein binding CCTCCGAACCTGACTTGCTAG 0.602000 8 1963 0 0 1.49906e-05 0 0 TXNDC2 0 broad.mit.edu 37 18 9886894 9886894 + Missense_Mutation SNP A A G rs146821851 TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr18:9886894A>G ENST00000306084.6 + 2 617 c.418A>G c.(418-420)Aaa>Gaa p.K140E TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E|TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E|TXNDC2_ENST00000426718.3_3'UTR NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 140 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity p.K140E(2)|p.K73E(2) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GTCCTCAGAAAAAGCCATCCA 0.547000 9 664 0 0 2.17888e-05 0 0 SAMD9 54809 broad.mit.edu 37 7 92731348 92731348 + Missense_Mutation SNP G G T TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr7:92731348G>T ENST00000379958.2 - 3 4332 c.4063C>A c.(4063-4065)Caa>Aaa p.Q1355K NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1355 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) GCATCCTCTTGACTTTTGATA 0.353000 18 967 1.64113e-05 0.00695942 1.64113e-05 1 0 BATF 10538 broad.mit.edu 37 14 75989073 75989073 + Silent SNP T T G TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr14:75989073T>G ENST00000286639.6 + 1 306 c.48T>G c.(46-48)ccT>ccG p.P16P BATF_ENST00000555795.1_Intron|BATF_ENST00000555504.1_Silent_p.P16P NM_006399.3 NP_006390.1 Q16520 BATF_HUMAN basic leucine zipper transcription factor, ATF-like 16 nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.028) GCCGCTCTCCTCCCCCTGGCA 0.587000 78 165 0 0 2.47226e-05 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84683327 84683327 + Missense_Mutation SNP G G C TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr15:84683327G>C ENST00000286744.5 + 24 4231 c.4007G>C c.(4006-4008)aGa>aCa p.R1336T ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R1336T NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 1336 Ig-like C2-type 3. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding p.R1336I(1) NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) TGGTTGAAGAGAGGAGGATCT 0.428000 35 591 0 0 2.86225e-05 0 0 DOCK3 1795 broad.mit.edu 37 3 51312611 51312611 + Missense_Mutation SNP T T G TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr3:51312611T>G ENST00000266037.9 + 25 2673 c.2650T>G c.(2650-2652)Ttc>Gtc p.F884V NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 884 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TGGCAGCATCTTCTCCATCGT 0.537000 10 469 0 0 3.07112e-06 0 0 CACNA1E 777 broad.mit.edu 37 1 181707541 181707541 + Missense_Mutation SNP C C A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr1:181707541C>A ENST00000526775.1 + 23 3699 c.3534C>A c.(3532-3534)ttC>ttA p.F1178L CACNA1E_ENST00000360108.3_Missense_Mutation_p.F1178L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.F1148L|CACNA1E_ENST00000367573.2_Missense_Mutation_p.F1197L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.F804L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.F1129L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.F1197L NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1197 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 CGGGCGTGTTCACCTTTGAGA 0.468000 14 922 3.52763e-06 0.00163421 3.52763e-06 1 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074431 76074431 + RNA SNP C C T rs149323153 by1000genomes TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr15:76074431C>T ENST00000395215.3 + 0 610 p.S190L(2) CTCCAGTCCTCGAGCTGCAGA 0.547000 23 180 0 0 1.32003e-05 0 0 TRIM48 79097 broad.mit.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr11:55035844T>C ENST00000417545.2 + 4 660 c.574T>C c.(574-576)Tac>Cac p.Y192H NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 176 intracellular zinc ion binding p.Y192H(11)|p.Y176H(11) endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 AGACATATTATACAGGTGAGT 0.338000 5 168 0 0 5.9392e-07 0 0 HLA-A 3105 broad.mit.edu 37 6 29910693 29910693 + Missense_Mutation SNP A A G rs41559716 by1000genomes TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr6:29910693A>G ENST00000396634.1 + 4 574 c.233A>G c.(232-234)cAg>cGg p.Q78R HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R P30443 1A01_HUMAN major histocompatibility complex, class I, A 78 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.Q78R(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TGGATAGAGCAGGAGGGGCCG 0.657000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 5 79 0 0 1.12685e-05 0 0 IGHV4OR15-8 0 broad.mit.edu 37 15 22473333 22473333 + RNA SNP A A G TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr15:22473333A>G ENST00000557788.2 - 0 20 CCAGGAGGAGAAAGAACCACA 0.512000 4 146 0 0 1.12685e-05 0 0 SEMG1 6406 broad.mit.edu 37 20 43836817 43836817 + Silent SNP A A G rs17850164 TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr20:43836817A>G ENST00000372781.3 + 2 936 c.879A>G c.(877-879)acA>acG p.T293T SEMG1_ENST00000244069.6_Intron NM_003007.3 NP_002998.1 semenogelin I p.T293T(2) cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) CTTCAAGTACAGAAGAAAGAC 0.383000 7 319 0 0 2.0095e-06 0 0 AMBN 258 broad.mit.edu 37 4 71468526 71468526 + Missense_Mutation SNP G G A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr4:71468526G>A ENST00000322937.6 + 8 685 c.582G>A c.(580-582)atG>atA p.M194I AMBN_ENST00000449493.2_Missense_Mutation_p.M179I NM_016519.5 NP_057603.1 Q9NP70 AMBN_HUMAN ameloblastin (enamel matrix protein) 194 bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth proteinaceous extracellular matrix growth factor activity|structural constituent of tooth enamel NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1) 29 Lung(101;0.235) TCCCAGGAATGGATTTTCCTG 0.249000 6 209 0 0 2.17888e-05 0 0 TBC1D1 23216 broad.mit.edu 37 4 38134830 38134830 + Silent SNP C C T TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr4:38134830C>T ENST00000261439.4 + 19 3613 c.3258C>T c.(3256-3258)acC>acT p.T1086T TBC1D1_ENST00000508802.1_Silent_p.T1077T|TBC1D1_ENST00000407365.1_3'UTR NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 1086 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 TAGAGAAAACCAACAGCAGCT 0.393000 15 220 0 0 2.23348e-06 0 0 CACNG2 10369 broad.mit.edu 37 22 37098459 37098459 + Missense_Mutation SNP C C T TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr22:37098459C>T ENST00000300105.6 - 1 1144 c.163G>A c.(163-165)Gag>Aag p.E55K NM_006078.3 NP_006069.1 Q9Y698 CCG2_HUMAN calcium channel, voltage-dependent, gamma subunit 2 55 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 18 ATAACTTCCTCGTTCTTTTTG 0.517000 113 321 0 0 2.47226e-05 0 0 ZGPAT 84619 broad.mit.edu 37 20 62365008 62365008 + Missense_Mutation SNP A A G TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr20:62365008A>G ENST00000328969.5 + 4 915 c.788A>G c.(787-789)gAc>gGc p.D263G ZGPAT_ENST00000369967.3_Missense_Mutation_p.D263G|ZGPAT_ENST00000448100.1_Missense_Mutation_p.D263G|ZGPAT_ENST00000355969.6_Missense_Mutation_p.D263G|ZGPAT_ENST00000357119.4_Missense_Mutation_p.D263G|ZGPAT_ENST00000490623.1_3'UTR NM_032527.4 NP_115916.3 Q8N5A5 ZGPAT_HUMAN zinc finger, CCCH-type with G patch domain 263 negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 14 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) GTGGAGGGGGACGGCATCCTG 0.617000 7 891 0 0 5.9392e-07 0 0 ATRX 546 broad.mit.edu 37 X 76937446 76937446 + Nonsense_Mutation SNP G G T TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chrX:76937446G>T ENST00000373344.5 - 9 3516 c.3302C>A c.(3301-3303)tCa>tAa p.S1101* ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S1063* NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1101 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TCTCTTCCTTGAACTCTTTCC 0.368000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 12 926 1.49906e-05 0.00640621 1.49906e-05 1 0 FAM135B 51059 broad.mit.edu 37 8 139144922 139144922 + Missense_Mutation SNP C C A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr8:139144922C>A ENST00000395297.1 - 20 4305 c.4135G>T c.(4135-4137)Ggc>Tgc p.G1379C NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1379 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GCGGCTCGGCCGATCAGGGTG 0.542000 HNSCC(54;0.14) 12 1318 2.17888e-05 0.00896397 2.17888e-05 1 0 GPR125 166647 broad.mit.edu 37 4 22422588 22422588 + Missense_Mutation SNP C C A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr4:22422588C>A ENST00000334304.5 - 12 1999 c.1730G>T c.(1729-1731)cGg>cTg p.R577L GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000508133.1_Missense_Mutation_p.R351L|GPR125_ENST00000502482.1_Missense_Mutation_p.R577L NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 577 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity p.R577L(1) breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) CTCTGGATCCCGCCTCCCATA 0.468000 9 902 5.50884e-06 0.00248927 5.50884e-06 1 0 OR4C15 81309 broad.mit.edu 37 11 55322649 55322649 + Silent SNP T T A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr11:55322649T>A ENST00000314644.2 + 1 867 c.867T>A c.(865-867)gcT>gcA p.A289A NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 GCTGGAAAGCTCTCTCCACCT 0.438000 HNSCC(20;0.049) 175 276 0 0 2.47226e-05 0 0 FAR2 55711 broad.mit.edu 37 12 29446305 29446305 + Missense_Mutation SNP C C A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr12:29446305C>A ENST00000182377.4 + 3 530 c.262C>A c.(262-264)Cag>Aag p.Q88K RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000536681.2_Missense_Mutation_p.Q88K|FAR2_ENST00000547116.1_5'UTR NM_018099.3 NP_060569.3 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 88 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1) 29 AGATCTCAATCAGAATGACTT 0.383000 10 569 1.49906e-05 0.00640621 1.49906e-05 1 0 JAGN1 84522 broad.mit.edu 37 3 9934901 9934901 + Missense_Mutation SNP G G A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr3:9934901G>A ENST00000307768.4 + 2 561 c.392G>A c.(391-393)cGc>cAc p.R131H NM_032492.3 NP_115881.3 Q8N5M9 JAGN1_HUMAN jagunal homolog 1 (Drosophila) 131 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1) 10 Medulloblastoma(99;0.227) CAGCTCTACCGCCATGGCAAG 0.527000 16 385 0 0 3.52763e-06 0 0 TEP1 7011 broad.mit.edu 37 14 20841221 20841221 + Silent SNP T T C TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr14:20841221T>C ENST00000262715.5 - 48 6940 c.6900A>G c.(6898-6900)caA>caG p.Q2300Q TEP1_ENST00000556935.1_Silent_p.Q2192Q|TEP1_ENST00000545983.1_Silent_p.Q638Q NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 2300 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) GTTCCCCAGCTTGATTTCCAG 0.522000 90 175 0 0 2.47226e-05 0 0 FLG2 388698 broad.mit.edu 37 1 152328035 152328035 + Missense_Mutation SNP A A C TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr1:152328035A>C ENST00000388718.5 - 3 2299 c.2227T>G c.(2227-2229)Tct>Gct p.S743A FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 743 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCAAAGCCAGAGGACTGACCT 0.507000 11 1758 0 0 1.23904e-05 0 0 BLOC1S3 388552 broad.mit.edu 37 19 45682658 45682658 + Missense_Mutation SNP A A C TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr19:45682658A>C ENST00000433642.2 + 2 200 c.104A>C c.(103-105)gAg>gCg p.E35A BLOC1S3_ENST00000587722.1_Missense_Mutation_p.E35A NM_212550.3 NP_997715.1 Q6QNY0 BL1S3_HUMAN biogenesis of lysosomal organelles complex-1, subunit 3 35 cellular membrane organization|eye development|melanosome organization|platelet activation|platelet dense granule organization|post-Golgi vesicle-mediated transport BLOC-1 complex identical protein binding ovary(1)|skin(1) 2 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231) TCCTCGTCGGAGGAGGAGGAG 0.761000 Hermansky-Pudlak syndrome 18 23 0 0 5.3912e-06 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274424 39274424 + Missense_Mutation SNP G G C TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr17:39274424G>C ENST00000391413.2 - 1 182 c.144C>G c.(142-144)agC>agG p.S48R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 48 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament p.S48R(2) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCCTGCAGCAGCTGGACACAC 0.672000 10 246 0 0 5.50884e-06 0 0 NRIP3 56675 broad.mit.edu 37 11 9007342 9007342 + Missense_Mutation SNP G G A rs61756060 byFrequency TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr11:9007342G>A ENST00000309166.3 - 4 591 c.478C>T c.(478-480)Cgg>Tgg p.R160W NRIP3_ENST00000531090.1_Intron NM_020645.2 NP_065696.1 Q9NQ35 NRIP3_HUMAN nuclear receptor interacting protein 3 160 proteolysis aspartic-type endopeptidase activity large_intestine(1)|lung(4)|skin(1)|stomach(1) 7 Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241) TTGAGATGCCGGGGTAGAGAA 0.512000 26 484 0 0 9.90768e-06 0 0 SDCCAG8 10806 broad.mit.edu 37 1 243507631 243507631 + Missense_Mutation SNP C C A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr1:243507631C>A ENST00000366541.3 + 12 1589 c.1471C>A c.(1471-1473)Cag>Aag p.Q491K SDCCAG8_ENST00000355875.4_Missense_Mutation_p.Q448K|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.Q346K NM_006642.3 NP_006633.1 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 491 Sufficient for homodimerization (By similarity). establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) AATTAAAGATCAGGTAAGAGA 0.353000 32 199 9.17885e-22 4.72908e-19 1.17478e-05 1 0 KRT28 162605 broad.mit.edu 37 17 38949428 38949428 + Missense_Mutation SNP T T A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr17:38949428T>A ENST00000306658.7 - 7 1296 c.1231A>T c.(1231-1233)Agc>Tgc p.S411C NM_181535.3 NP_853513.2 Q7Z3Y7 K1C28_HUMAN keratin 28 411 Tail. cytoplasm|intermediate filament structural molecule activity NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Breast(137;0.000301) TTCCCAGGGCTTCCTGATCCA 0.313000 55 294 0 0 2.47226e-05 0 0 OR4C15 81309 broad.mit.edu 37 11 55322650 55322650 + Missense_Mutation SNP C C A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr11:55322650C>A ENST00000314644.2 + 1 868 c.868C>A c.(868-870)Ctc>Atc p.L290I NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 236 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 CTGGAAAGCTCTCTCCACCTG 0.433000 HNSCC(20;0.049) 176 276 9.15566e-77 4.76164e-74 2.47226e-05 1 0 RGPD3 653489 broad.mit.edu 37 2 107049681 107049681 + Missense_Mutation SNP T T C TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr2:107049681T>C ENST00000409886.3 - 16 2353 c.2266A>G c.(2266-2268)Aac>Gac p.N756D RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 756 intracellular transport binding p.N756D(6) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCACTATAGTTTTCGAGTTCC 0.373000 11 2098 0 0 6.4e-05 0 0 ACTL6A 86 broad.mit.edu 37 3 179291168 179291168 + Missense_Mutation SNP G G A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr3:179291168G>A ENST00000429709.2 + 4 502 c.289G>A c.(289-291)Gat>Aat p.D97N ACTL6A_ENST00000450518.2_Missense_Mutation_p.D55N|ACTL6A_ENST00000392662.1_Missense_Mutation_p.D55N NM_004301.3 NP_004292.1 O96019 ACL6A_HUMAN actin-like 6A 97 chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex ATP binding|chromatin binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1) 21 all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169) TGAAGACTGGGATAGTTTCCA 0.353000 13 606 0 0 9.31168e-06 0 0 EML3 256364 broad.mit.edu 37 11 62370095 62370095 + Missense_Mutation SNP G G A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr11:62370095G>A ENST00000394773.2 - 22 2850 c.2543C>T c.(2542-2544)aCg>aTg p.T848M EML3_ENST00000529309.1_Silent_p.H811H|EML3_ENST00000531557.1_Missense_Mutation_p.T631M|EML3_ENST00000278845.4_Missense_Mutation_p.T849M|EML3_ENST00000494176.2_Silent_p.H783H NM_153265.2 NP_694997.2 Q32P44 EMAL3_HUMAN echinoderm microtubule associated protein like 3 848 cytoplasm|microtubule protein binding biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 GTCGTCGTGCGTGAATCGGAC 0.746000 4 36 0 0 2.56e-06 0 0 CHST10 9486 broad.mit.edu 37 2 101010109 101010109 + Silent SNP T T C TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr2:101010109T>C ENST00000264249.3 - 7 1054 c.669A>G c.(667-669)agA>agG p.R223R CHST10_ENST00000409701.1_Silent_p.R223R|CHST10_ENST00000542617.1_Silent_p.R271R NM_004854.4 NP_004845.1 O43529 CHSTA_HUMAN carbohydrate sulfotransferase 10 223 carbohydrate biosynthetic process|cell adhesion Golgi membrane|integral to membrane|membrane fraction breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1) 16 TCCTGTATTTTCTGATGATGC 0.483000 68 463 0 0 2.47226e-05 0 0 FAM134B 54463 broad.mit.edu 37 5 16479052 16479052 + Nonsense_Mutation SNP C C A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr5:16479052C>A ENST00000306320.9 - 6 801 c.715G>T c.(715-717)Gga>Tga p.G239* FAM134B_ENST00000399793.2_Nonsense_Mutation_p.G98* NM_001034850.2 NP_001030022.1 Q9H6L5 F134B_HUMAN family with sequence similarity 134, member B 239 sensory perception of pain cis-Golgi network|endoplasmic reticulum|integral to membrane breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1) 16 ATTTTTTGTCCAATATCATTA 0.343000 10 669 2.17888e-05 0.00896397 2.17888e-05 1 0 RP11-343N15.1 0 broad.mit.edu 37 1 121116689 121116689 + RNA SNP C C T TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr1:121116689C>T ENST00000437515.1 - 0 329 CTTTTCAGCACCAAGCCAAGT 0.403000 5 177 0 0 1.23904e-05 0 0 UBBP4 0 broad.mit.edu 37 17 21730846 21730846 + Missense_Mutation SNP C C T TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr17:21730846C>T ENST00000584755.1 + 2 545 c.148C>T c.(148-150)Cgg>Tgg p.R50W UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R50W endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 AGGCAAGCAGCGGGAAGATGG 0.517000 60 117 0 0 2.47226e-05 0 0 FAM194A 131831 broad.mit.edu 37 3 150391782 150391782 + Missense_Mutation SNP T T G TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr3:150391782T>G ENST00000295910.6 - 11 1356 c.1304A>C c.(1303-1305)aAg>aCg p.K435T FAM194A_ENST00000491361.1_Missense_Mutation_p.K289T NM_152394.3 NP_689607.2 Q7L0X2 F194A_HUMAN family with sequence similarity 194, member A 435 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 AGTCAGAAACTTGCTCCCATG 0.333000 52 369 0 0 2.47226e-05 0 0 CXorf21 80231 broad.mit.edu 37 X 30577624 30577624 + Silent SNP A A G TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chrX:30577624A>G ENST00000378962.3 - 3 1171 c.849T>C c.(847-849)atT>atC p.I283I NM_025159.2 NP_079435.1 Q9HAI6 CX021_HUMAN chromosome X open reading frame 21 283 kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1) 20 TAATTTCAGTAATTTCAGTTG 0.378000 4 124 0 0 2.56e-06 0 0 AMBN 258 broad.mit.edu 37 4 71468524 71468524 + Missense_Mutation SNP A A G TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr4:71468524A>G ENST00000322937.6 + 8 683 c.580A>G c.(580-582)Atg>Gtg p.M194V AMBN_ENST00000449493.2_Missense_Mutation_p.M179V NM_016519.5 NP_057603.1 Q9NP70 AMBN_HUMAN ameloblastin (enamel matrix protein) 194 bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth proteinaceous extracellular matrix growth factor activity|structural constituent of tooth enamel NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1) 29 Lung(101;0.235) GCTCCCAGGAATGGATTTTCC 0.249000 6 212 0 0 2.17888e-05 0 0 AMBN 258 broad.mit.edu 37 4 71468533 71468533 + Missense_Mutation SNP C C G TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr4:71468533C>G ENST00000322937.6 + 8 692 c.589C>G c.(589-591)Cct>Gct p.P197A AMBN_ENST00000449493.2_Missense_Mutation_p.P182A NM_016519.5 NP_057603.1 Q9NP70 AMBN_HUMAN ameloblastin (enamel matrix protein) 197 bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth proteinaceous extracellular matrix growth factor activity|structural constituent of tooth enamel NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1) 29 Lung(101;0.235) AATGGATTTTCCTGATCCACA 0.259000 6 214 0 0 5.50884e-06 0 0 AKAP9 10142 broad.mit.edu 37 7 91736667 91736667 + Missense_Mutation SNP C C A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr7:91736667C>A ENST00000359028.2 + 48 11714 c.11489C>A c.(11488-11490)cCa>cAa p.P3830Q AKAP9_ENST00000356239.3_Missense_Mutation_p.P3826Q|AKAP9_ENST00000358100.2_Missense_Mutation_p.P3776Q Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 3830 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TATGGAGAACCAAGACATACT 0.368000 T BRAF papillary thyroid 12 755 3.27435e-08 1.58341e-05 1.49906e-05 1 0 ZNF28 7576 broad.mit.edu 37 19 53303242 53303242 + Missense_Mutation SNP G G A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr19:53303242G>A ENST00000438150.2 - 2 2590 c.1697C>T c.(1696-1698)aCa>aTa p.T566I ZNF28_ENST00000414252.2_Missense_Mutation_p.T566I|ZNF28_ENST00000360272.4_Missense_Mutation_p.T566I|ZNF28_ENST00000457749.2_Missense_Mutation_p.T619I P17035 ZNF28_HUMAN zinc finger protein 28 619 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) AAGCGATGATGTCTGACGGAA 0.458000 68 844 0 0 2.47226e-05 0 0 KDELC1 79070 broad.mit.edu 37 13 103443745 103443745 + Missense_Mutation SNP C C A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr13:103443745C>A ENST00000376004.4 - 5 1044 c.708G>T c.(706-708)ttG>ttT p.L236F KDELC1_ENST00000460338.1_5'UTR NM_024089.2 NP_076994.2 Q6UW63 KDEL1_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 1 236 endoplasmic reticulum lumen central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) GCCAGTCTCCCAAATTAACAA 0.398000 11 1078 1.08611e-07 5.20652e-05 3.07112e-06 1 0 DLX6 1750 broad.mit.edu 37 7 96635385 96635385 + Splice_Site SNP G G A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr7:96635385G>A ENST00000007660.5 + 1 95 c.e1+1 DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000518156.2_Silent_p.Q32Q|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000605417.1_RNA NM_005222.3 NP_005213.3 P56179 DLX6_HUMAN distal-less homeobox 6 nervous system development|skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) agcagcagcagcaacagcagc 0.657000 5 56 0 0 1.23904e-05 0 0 RPIA 22934 broad.mit.edu 37 2 89035229 89035229 + Missense_Mutation SNP C C A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr2:89035229C>A ENST00000283646.4 + 6 626 c.571C>A c.(571-573)Cgc>Agc p.R191S NM_144563.2 NP_653164.2 P49247 RPIA_HUMAN ribose 5-phosphate isomerase A 191 pentose-phosphate shunt, non-oxidative branch cytosol ribose-5-phosphate isomerase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1) 18 Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287) CTATGCTAGTCGCTTCATCGT 0.493000 14 958 1.3612e-06 0.0006469 2.31682e-05 1 0 SF3B1 23451 broad.mit.edu 37 2 198266713 198266713 + Missense_Mutation SNP C C T TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr2:198266713C>T ENST00000335508.5 - 15 2310 c.2219G>A c.(2218-2220)gGa>gAa p.G740E NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa 740 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding p.G740E(1) NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) ATTTACCTTTCCTCTGTGTTG 0.343000 Mis myelodysplastic syndrome 76 225 0 0 2.47226e-05 0 0 ZNF99 7652 broad.mit.edu 37 19 22940990 22940990 + Missense_Mutation SNP A A C TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr19:22940990A>C ENST00000397104.3 - 5 1447 c.1448T>G c.(1447-1449)tTt>tGt p.F483C ZNF99_ENST00000596209.1_Missense_Mutation_p.F574C zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) AGATTGCTTAAAAGCTTTGCC 0.368000 113 177 0 0 2.47226e-05 0 0 COL23A1 91522 broad.mit.edu 37 5 177676127 177676127 + Silent SNP G G T TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr5:177676127G>T ENST00000390654.3 - 19 1497 c.1140C>A c.(1138-1140)tcC>tcA p.S380S NM_173465.3 NP_775736.2 Q86Y22 CONA1_HUMAN collagen, type XXIII, alpha 1 380 Collagen-like 3.|Gly-rich. collagen|integral to membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172) CCGGGAGGCCGGACAAGCCCA 0.637000 7 518 5.18039e-06 0.00237987 5.18039e-06 1 0 NAP1L3 4675 broad.mit.edu 37 X 92926869 92926869 + Missense_Mutation SNP T T C TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chrX:92926869T>C ENST00000373079.3 - 1 1698 c.1435A>G c.(1435-1437)Aaa>Gaa p.K479E NAP1L3_ENST00000475430.1_5'UTR NM_004538.5 NP_004529.2 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 479 nucleosome assembly chromatin assembly complex haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 34 TAGATTGATTTCAGGATGACA 0.363000 5 132 0 0 5.9392e-07 0 0 NOX4 50507 broad.mit.edu 37 11 89133524 89133524 + Silent SNP A A G TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr11:89133524A>G ENST00000535633.1 - 10 1108 c.798T>C c.(796-798)ccT>ccC p.P266P NOX4_ENST00000532825.1_Silent_p.P266P|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000542487.1_Silent_p.P266P|NOX4_ENST00000527956.1_Silent_p.P266P|NOX4_ENST00000263317.4_Silent_p.P290P|NOX4_ENST00000343727.5_Silent_p.P266P|NOX4_ENST00000413594.2_Silent_p.P311P|NOX4_ENST00000527626.1_Silent_p.P124P|NOX4_ENST00000528341.1_Silent_p.P265P|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000534731.1_Silent_p.P290P|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000424319.1_Silent_p.P266P NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 290 Ferric oxidoreductase.|Mediates interaction with TLR4. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) ACAGGCACAAAGGTCCAGAAA 0.398000 10 199 0 0 3.07112e-06 0 0 FCGBP 8857 broad.mit.edu 37 19 40433627 40433627 + Silent SNP G G A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr19:40433627G>A ENST00000221347.6 - 2 649 c.642C>T c.(640-642)gtC>gtT p.V214V NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 214 IgGFc-binding. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TACTAGCTGTGACCTTTGACC 0.562000 18 251 0 0 5.3912e-06 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 230 218 0 0 2.47226e-05 0 0 SCN3A 6328 broad.mit.edu 37 2 165947203 165947203 + Silent SNP C C A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr2:165947203C>A ENST00000360093.3 - 28 5951 c.5460G>T c.(5458-5460)ctG>ctT p.L1820L SCN3A_ENST00000540861.1_Silent_p.L303L|SCN3A_ENST00000283254.7_Silent_p.L1820L|SCN3A_ENST00000409101.3_Silent_p.L1771L|AC013463.2_ENST00000431341.1_RNA NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1820 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) GAGGAGGATCCAGGGCAGCTG 0.448000 8 468 1.12685e-05 0.00493024 1.12685e-05 1 0 JPH1 56704 broad.mit.edu 37 8 75227735 75227735 + Missense_Mutation SNP C C T TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr8:75227735C>T ENST00000342232.4 - 2 540 c.500G>A c.(499-501)cGc>cAc p.R167H NM_020647.2 NP_065698.1 Q9HDC5 JPH1_HUMAN junctophilin 1 167 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) CTGCTCGCTGCGCAGCGAGGC 0.721000 7 77 0 0 2.0095e-06 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 6 387 0 0 5.9392e-07 0 0 POTEF 728378 broad.mit.edu 37 2 130877893 130877893 + Missense_Mutation SNP G G A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr2:130877893G>A ENST00000357462.5 - 1 289 c.196C>T c.(196-198)Cgc>Tgc p.R66C POTEF_ENST00000360967.5_Missense_Mutation_p.R66C|POTEF_ENST00000361163.4_Missense_Mutation_p.R66C|POTEF_ENST00000409914.2_Missense_Mutation_p.R66C A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 66 cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 AAGCAGTGGCGGCACCACTTG 0.602000 10 935 0 0 2.17888e-05 0 0 DNHD1 144132 broad.mit.edu 37 11 6593035 6593035 + Missense_Mutation SNP G G A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr11:6593035G>A ENST00000254579.6 + 43 14645 c.14081G>A c.(14080-14082)aGt>aAt p.S4694N DNHD1_ENST00000527990.2_Missense_Mutation_p.S4694N NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 4694 microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) CCGGGCACCAGTGACCTGCCA 0.637000 46 149 0 0 1.69351e-05 0 0 ZNF761 388561 broad.mit.edu 37 19 53959318 53959318 + RNA SNP G G A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr19:53959318G>A ENST00000454407.1 + 0 2010 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) ATACTGGAGAGAAAGCTTACA 0.428000 14 408 0 0 1.49906e-05 0 0 DHX38 9785 broad.mit.edu 37 16 72130794 72130794 + Silent SNP C C A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr16:72130794C>A ENST00000268482.3 + 3 906 c.397C>A c.(397-399)Cgg>Agg p.R133R DHX38_ENST00000536867.1_Intron NM_014003.3 NP_054722.2 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 133 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 48 Ovarian(137;0.125) GGAACGCAGTCGGCAGAGAGA 0.542000 18 831 8.00594e-06 0.00358822 8.00594e-06 1 0 AKAP6 9472 broad.mit.edu 37 14 33291486 33291486 + Silent SNP C C T TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr14:33291486C>T ENST00000280979.4 + 13 4637 c.4467C>T c.(4465-4467)agC>agT p.S1489S AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 1489 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) AGTCACAAAGCGAAAAAGCGC 0.348000 86 190 0 0 2.47226e-05 0 0 KCTD9 54793 broad.mit.edu 37 8 25296876 25296876 + Silent SNP G G T TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr8:25296876G>T ENST00000221200.4 - 6 638 c.418C>A c.(418-420)Cga>Aga p.R140R KCTD9_ENST00000518067.1_5'UTR NM_017634.3 NP_060104.2 Q7L273 KCTD9_HUMAN potassium channel tetramerization domain containing 9 140 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1) 12 all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438) TCAGGACTTCGGTCAATTAAG 0.368000 6 206 5.4927e-09 2.70359e-06 1.12685e-05 1 0 SPAG17 200162 broad.mit.edu 37 1 118609502 118609502 + Silent SNP C C T TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr1:118609502C>T ENST00000336338.5 - 18 2471 c.2406G>A c.(2404-2406)aaG>aaA p.K802K NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 802 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) ACCTATATTGCTTATGGGCTT 0.358000 159 130 0 0 2.47226e-05 0 0 TM2D3 80213 broad.mit.edu 37 15 102191940 102191940 + Missense_Mutation SNP G G T TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr15:102191940G>T ENST00000333202.3 - 2 133 c.128C>A c.(127-129)cCg>cAg p.P43Q TM2D3_ENST00000428002.2_Intron|TM2D3_ENST00000559107.1_Missense_Mutation_p.P43Q|TM2D3_ENST00000347970.3_Intron NM_078474.2 NP_510883.2 Q9BRN9 TM2D3_HUMAN TM2 domain containing 3 43 integral to membrane central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1) 10 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TGTTGGGCCCGGATCCTTTAT 0.423000 10 1068 2.0095e-06 0.000946834 2.0095e-06 1 0 LGALS1 3956 broad.mit.edu 37 22 38075643 38075643 + Missense_Mutation SNP G G A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr22:38075643G>A ENST00000215909.5 + 4 390 c.295G>A c.(295-297)Gtc>Atc p.V99I LGALS1_ENST00000489315.1_3'UTR NM_002305.3 NP_002296.1 P09382 LEG1_HUMAN lectin, galactoside-binding, soluble, 1 99 Galectin. apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of apoptosis cytoplasm|extracellular space|proteinaceous extracellular matrix galactoside binding|signal transducer activity endometrium(1)|large_intestine(1)|lung(1) 3 Melanoma(58;0.0574) CAACCTGACCGTCAAGCTGCC 0.567000 50 158 0 0 2.47226e-05 0 0 CPNE4 131034 broad.mit.edu 37 3 131283152 131283152 + Missense_Mutation SNP G G C TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr3:131283152G>C ENST00000512055.1 - 15 3095 c.969C>G c.(967-969)aaC>aaG p.N323K CPNE4_ENST00000511604.1_Missense_Mutation_p.N323K|CPNE4_ENST00000429747.1_Missense_Mutation_p.N323K|CPNE4_ENST00000502818.1_Missense_Mutation_p.N341K|CPNE4_ENST00000512332.1_Missense_Mutation_p.N341K Q96A23 CPNE4_HUMAN copine IV 323 VWFA. central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 AGGAACAGCTGTTCCTGGGGT 0.433000 65 286 0 0 2.47226e-05 0 0 PCDH17 27253 broad.mit.edu 37 13 58298909 58298909 + Silent SNP C C T rs138830034 byFrequency TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr13:58298909C>T ENST00000377918.3 + 4 2987 c.2961C>T c.(2959-2961)taC>taT p.Y987Y NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 987 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CTGAGACTTACGAAACTGTGA 0.413000 97 203 0 0 2.47226e-05 0 0 OR2W5 0 broad.mit.edu 37 1 247655339 247655339 + RNA SNP A A T TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr1:247655339A>T ENST00000522351.1 + 0 970 A6NFC9 OR2W5_HUMAN sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4) 39 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) CCATGAAGAAACTTCTGGGGT 0.507000 123 244 0 0 2.47226e-05 0 0 RERG 85004 broad.mit.edu 37 12 15262086 15262086 + Silent SNP G G T TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr12:15262086G>T ENST00000256953.2 - 5 894 c.558C>A c.(556-558)gtC>gtA p.V186V RERG_ENST00000538313.1_Silent_p.V186V|RERG_ENST00000546331.1_Silent_p.V167V|RERG_ENST00000536465.1_Silent_p.V186V NM_032918.2 NP_116307.1 Q96A58 RERG_HUMAN RAS-like, estrogen-regulated, growth inhibitor 186 negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction cytosol|membrane|nucleus estrogen receptor binding|GDP binding|GTP binding|GTPase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 TGGCTTGCTTGACATGCGTGG 0.517000 16 858 2.48779e-11 1.24679e-08 1.32003e-05 1 0 GPR158 57512 broad.mit.edu 37 10 25701403 25701403 + Splice_Site SNP G G T TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr10:25701403G>T ENST00000376351.3 + 4 1694 c.e4+1 NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 CAAAGCAAAGGTAAACCCAGG 0.433000 45 303 1.57945e-13 8.06224e-11 1.69351e-05 1 0 C11orf30 56946 broad.mit.edu 37 11 76257216 76257216 + Missense_Mutation SNP G G A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr11:76257216G>A ENST00000529032.1 + 19 3649 c.3649G>A c.(3649-3651)Gtt>Att p.V1217I C11orf30_ENST00000334736.3_Missense_Mutation_p.V1217I|C11orf30_ENST00000524490.1_Missense_Mutation_p.V1119I|C11orf30_ENST00000525038.1_Missense_Mutation_p.V1218I|C11orf30_ENST00000525919.1_Missense_Mutation_p.V1218I|C11orf30_ENST00000524767.1_Missense_Mutation_p.V1232I|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000533248.1_Missense_Mutation_p.V1126I Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 1217 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 TCCATCCACTGTTGGCTCTTC 0.512000 14 326 0 0 2.31682e-05 0 0 UBB 7314 broad.mit.edu 37 17 16285560 16285560 + Silent SNP T T C TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr17:16285560T>C ENST00000302182.3 + 2 731 c.339T>C c.(337-339)ccT>ccC p.P113P UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|UBB_ENST00000395837.1_Silent_p.P113P|UBB_ENST00000395839.1_Silent_p.P113P|RP11-138I1.4_ENST00000583934.1_RNA NM_018955.2 NP_061828.1 P0CG47 UBB_HUMAN ubiquitin B 113 Ubiquitin-like 2. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) AAGGCATCCCTCCCGACCAGC 0.557000 9 417 0 0 1.58986e-06 0 0 TPTE2P6 0 broad.mit.edu 37 13 25168471 25168471 + RNA SNP C C T rs61946941 by1000genomes TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr13:25168471C>T ENST00000453498.1 + 0 1143 CATCTCTGTACGATGATGTGA 0.358000 7 185 0 0 1.49906e-05 0 0 PTCHD2 57540 broad.mit.edu 37 1 11561859 11561859 + Silent SNP C C T TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr1:11561859C>T ENST00000294484.6 + 2 948 c.810C>T c.(808-810)caC>caT p.H270H PTCHD2_ENST00000389575.3_Silent_p.H270H NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 270 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CTCAGACGCACGCGCACTGGC 0.677000 48 24 0 0 2.47226e-05 0 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 11 249 0 0 9.31168e-06 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128685 45128685 + RNA SNP T T C rs145089594 by1000genomes TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr17:45128685T>C ENST00000575173.1 - 0 418 TTCCAGGATATGGCTATACTG 0.303000 7 640 0 0 1.12685e-05 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074470 76074470 + RNA SNP A A G TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr15:76074470A>G ENST00000395215.3 + 0 649 p.Q203R(4) CGGTTACAGCAGACCATAAAG 0.577000 19 158 0 0 5.52252e-06 0 0 PGBD2 0 broad.mit.edu 37 1 249211293 249211293 + Silent SNP C C A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr1:249211293C>A ENST00000539153.1 + 4 756 c.501C>A c.(499-501)gtC>gtA p.V167V PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000329291.5_Silent_p.V170V Q6P3X8 PGBD2_HUMAN piggyBac transposable element derived 2 170 NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3) 14 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) AGAAAAATGTCAATTTGAGTC 0.383000 22 658 9.90768e-06 0.00436953 9.90768e-06 1 0 MEFV 4210 broad.mit.edu 37 16 3293588 3293588 + Silent SNP C C T TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr16:3293588C>T ENST00000219596.1 - 10 1938 c.1899G>A c.(1897-1899)ccG>ccA p.P633P MEFV_ENST00000339854.4_Silent_p.P453P|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Silent_p.P422P NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 633 B30.2/SPRY. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) CAAATCTTTGCGGGCCATCAG 0.517000 11 1405 0 0 2.0095e-06 0 0 DNAH6 1768 broad.mit.edu 37 2 84784998 84784998 + Missense_Mutation SNP C C T TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr2:84784998C>T ENST00000389394.3 + 11 1879 c.1742C>T c.(1741-1743)cCa>cTa p.P581L DNAH6_ENST00000237449.6_Missense_Mutation_p.P581L|DNAH6_ENST00000398278.2_Missense_Mutation_p.P581L NM_001370.1 NP_001361.1 Q9C0G6 DYH6_HUMAN dynein, axonemal, heavy chain 6 581 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 57 GGAACTGGGCCAAGTTTAGCA 0.343000 178 257 0 0 2.47226e-05 0 0 AC009499.1 0 broad.mit.edu 37 2 33952825 33952825 + RNA SNP G G C TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr2:33952825G>C ENST00000366209.2 + 0 68 MYADML_ENST00000474610.1_RNA GCTCCACGAGGAGGATGACCA 0.617000 7 63 0 0 1.12685e-05 0 0 MED1 5469 broad.mit.edu 37 17 37565824 37565824 + Missense_Mutation SNP C C A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr17:37565824C>A ENST00000300651.6 - 17 2873 c.2650G>T c.(2650-2652)Gat>Tat p.D884Y MED1_ENST00000394287.3_Intron NM_004774.3 NP_004765.2 Q15648 MED1_HUMAN mediator complex subunit 1 884 Interaction with ESR1. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1) 59 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) CTGCTTTCATCAAAATATTCT 0.398000 HNSCC(31;0.082) 9 649 2.17888e-05 0.00896397 2.17888e-05 1 0 DYNC1I1 1780 broad.mit.edu 37 7 95665004 95665004 + Missense_Mutation SNP T T A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr7:95665004T>A ENST00000324972.6 + 13 1548 c.1355T>A c.(1354-1356)gTc>gAc p.V452D DYNC1I1_ENST00000447467.2_Missense_Mutation_p.V435D|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.V432D|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.V415D|DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.V415D|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.V435D NM_004411.4 NP_004402.1 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 452 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 54 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) ACGGGAGACGTCAATAACTTC 0.463000 101 1108 0 0 2.47226e-05 0 0 POM121L9P 0 broad.mit.edu 37 22 24659734 24659734 + RNA SNP T T C TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr22:24659734T>C ENST00000414583.2 + 0 3259 NR_003714.1 CTCTCTCCTGTGGGAGGGGGG 0.632000 4 53 0 0 1.23904e-05 0 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 10 412 0 0 1.49906e-05 0 0 LAMB4 22798 broad.mit.edu 37 7 107743496 107743496 + Silent SNP C C T TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr7:107743496C>T ENST00000388781.3 - 10 1256 c.1173G>A c.(1171-1173)gcG>gcA p.A391A LAMB4_ENST00000205386.4_Silent_p.A391A|LAMB4_ENST00000414450.2_Silent_p.A391A|LAMB4_ENST00000388780.3_Silent_p.A391A NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 391 Laminin EGF-like 2. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 CACGAATGCACGCGTAGGGAT 0.577000 22 78 0 0 7.33532e-06 0 0 GREM2 64388 broad.mit.edu 37 1 240656454 240656454 + Missense_Mutation SNP G G A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr1:240656454G>A ENST00000318160.4 - 2 588 c.322C>T c.(322-324)Cgg>Tgg p.R108W NM_022469.3 NP_071914.3 Q9H772 GREM2_HUMAN gremlin 2, DAN family BMP antagonist 108 CTCK. BMP signaling pathway extracellular space cytokine activity endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 10 all_cancers(173;0.0196) OV - Ovarian serous cystadenocarcinoma(106;0.0123) TTCACGTGCCGCGGGATGTAG 0.672000 8 269 0 0 5.18039e-06 0 0 TPTE2P6 0 broad.mit.edu 37 13 25168463 25168463 + RNA SNP T T C rs61946940 TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr13:25168463T>C ENST00000453498.1 + 0 1135 TGACAGTCCATCTCTGTACGA 0.363000 6 169 0 0 2.31682e-05 0 0 PREX2 80243 broad.mit.edu 37 8 68981315 68981315 + Missense_Mutation SNP C C T TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr8:68981315C>T ENST00000288368.4 + 12 1664 c.1387C>T c.(1387-1389)Cgc>Tgc p.R463C PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 463 DEP 1. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity p.R463C(2) NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 ATATAGATTTCGCTATGATGA 0.348000 74 121 0 0 2.47226e-05 0 0 HLA-C 3107 broad.mit.edu 37 6 31239616 31239616 + Missense_Mutation SNP C C A rs150810080 byFrequency TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr6:31239616C>A ENST00000383329.3 - 2 117 c.103G>T c.(103-105)Gcc>Tcc p.A35S HLA-C_ENST00000376228.5_Missense_Mutation_p.A35S Q9TNN7 1C05_HUMAN major histocompatibility complex, class I, C 35 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 17 CGGGACACGGCGGTGTCGAAA 0.721000 6 143 1.76689e-08 8.61994e-06 2.17888e-05 1 0 SF3B1 23451 broad.mit.edu 37 2 198265629 198265629 + Missense_Mutation SNP T T C TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr2:198265629T>C ENST00000335508.5 - 18 2619 c.2528A>G c.(2527-2529)aAa>aGa p.K843R NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa 843 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) TGCACCTACTTTGTTTGCCAA 0.348000 Mis myelodysplastic syndrome 65 240 0 0 2.47226e-05 0 0 SARDH 1757 broad.mit.edu 37 9 136573530 136573530 + Missense_Mutation SNP G G A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr9:136573530G>A ENST00000371872.4 - 11 1606 c.1349C>T c.(1348-1350)aCg>aTg p.T450M SARDH_ENST00000439388.1_Missense_Mutation_p.T450M|SARDH_ENST00000422262.2_Missense_Mutation_p.T282M NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 450 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) GGGGTGGTCCGTGAGCGAGTG 0.652000 8 253 0 0 2.17888e-05 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 4 106 0 0 2.56e-06 0 0 ZNF254 9534 broad.mit.edu 37 19 24310056 24310056 + Silent SNP T T C TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr19:24310056T>C ENST00000357002.4 + 4 1369 c.1254T>C c.(1252-1254)tcT>tcC p.S418S ZNF254_ENST00000342944.6_Silent_p.S333S NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 418 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) TTAATCGATCTTCAAATCTTA 0.348000 4 179 0 0 1.23904e-05 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 7 95 0 0 2.17888e-05 0 0 MYOT 9499 broad.mit.edu 37 5 137219194 137219194 + Missense_Mutation SNP T T A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr5:137219194T>A ENST00000239926.4 + 7 1312 c.938T>A c.(937-939)gTc>gAc p.V313D MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000508281.2_RNA|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.V198D|MYOT_ENST00000421631.2_Missense_Mutation_p.V129D NM_006790.2 NP_006781.1 Q9UBF9 MYOTI_HUMAN myotilin 313 Ig-like C2-type 1.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC. muscle contraction actin cytoskeleton|sarcolemma|sarcomere actin binding|structural constituent of muscle cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TTTGAAGTAGTCAGAGCTTCA 0.443000 45 241 0 0 1.39061e-05 0 0 YEATS4 8089 broad.mit.edu 37 12 69759611 69759611 + Missense_Mutation SNP G G T TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr12:69759611G>T ENST00000247843.2 + 4 550 c.280G>T c.(280-282)Ggt>Tgt p.G94C YEATS4_ENST00000548020.1_Intron NM_006530.2 NP_006521.1 O95619 YETS4_HUMAN YEATS domain containing 4 94 YEATS. histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth NuA4 histone acetyltransferase complex|nuclear matrix DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1) 5 all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187) Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241) AACAGGATGGGGTGAATTCGA 0.274000 10 983 5.50884e-06 0.00248927 5.50884e-06 1 0 KDM5B 10765 broad.mit.edu 37 1 202724554 202724554 + Missense_Mutation SNP C C A rs76768289 TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr1:202724554C>A ENST00000367265.3 - 11 2547 c.1383G>T c.(1381-1383)ttG>ttT p.L461F KDM5B_ENST00000456180.1_5'UTR|KDM5B_ENST00000367264.2_Missense_Mutation_p.L497F NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 461 JmjC. negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 GCATGTTGTTCAAATTCCAGC 0.378000 17 480 4.7796e-09 2.37378e-06 9.90768e-06 1 0 HSPA1L 0 broad.mit.edu 37 6 31779009 31779009 + Missense_Mutation SNP G G T TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr6:31779009G>T ENST00000375654.4 - 2 930 c.741C>A c.(739-741)ttC>ttA p.F247L HSPA1L_ENST00000417199.3_Missense_Mutation_p.F247L NM_005527.3 NP_005518.3 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 247 response to unfolded protein ATP binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 GTTTCCTCTTGAACTCCTCCA 0.577000 13 371 1.49906e-05 0.00640621 1.49906e-05 1 0 ZNF254 9534 broad.mit.edu 37 19 24310294 24310294 + Missense_Mutation SNP T T G TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr19:24310294T>G ENST00000357002.4 + 4 1607 c.1492T>G c.(1492-1494)Tct>Gct p.S498A ZNF254_ENST00000342944.6_Missense_Mutation_p.S413A NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 498 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) ATGTGGCAAATCTTTTAGCCA 0.408000 5 373 0 0 1.23904e-05 0 0 RYR2 6262 broad.mit.edu 37 1 237995882 237995882 + Missense_Mutation SNP A A T TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr1:237995882A>T ENST00000366574.2 + 105 15156 c.14839A>T c.(14839-14841)Agg>Tgg p.R4947W RYR2_ENST00000542537.1_Missense_Mutation_p.R4931W|RYR2_ENST00000462585.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.R4953W NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4947 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GTATCAAGAAAGGTGTTGGGA 0.388000 8 155 0 0 1.12685e-05 0 0 RILPL2 196383 broad.mit.edu 37 12 123907604 123907604 + Missense_Mutation SNP T T A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr12:123907604T>A ENST00000280571.8 - 3 888 c.592A>T c.(592-594)Atc>Ttc p.I198F NM_145058.1 NP_659495.1 Q969X0 RIPL2_HUMAN Rab interacting lysosomal protein-like 2 198 cytosol|plasma membrane identical protein binding endometrium(1)|large_intestine(2)|lung(2)|skin(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168) TTTTTTATGATTGTCTTCTCC 0.507000 6 321 0 0 2.17888e-05 0 0 ZNF90 7643 broad.mit.edu 37 19 20215121 20215121 + Missense_Mutation SNP A A C TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr19:20215121A>C ENST00000418063.2 + 2 189 c.77A>C c.(76-78)cAg>cCg p.Q26P ZNF90_ENST00000474284.1_Intron NM_007138.1 NP_009069.1 Q03938 ZNF90_HUMAN zinc finger protein 90 26 KRAB. Golgi apparatus|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|lung(2)|ovary(1)|skin(1) 5 ACTGCACAGCAGAATTTATAT 0.413000 22 575 0 0 3.83957e-06 0 0 MAP3K5 4217 broad.mit.edu 37 6 137113237 137113237 + Missense_Mutation SNP C C G TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr6:137113237C>G ENST00000359015.4 - 1 419 c.59G>C c.(58-60)gGc>gCc p.G20A NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 20 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) GGTGCAGAAGCCCGAGGGGGC 0.751000 36 34 0 0 5.96083e-06 0 0 CKAP5 9793 broad.mit.edu 37 11 46783565 46783565 + Missense_Mutation SNP G G T TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr11:46783565G>T ENST00000529230.1 - 32 4252 c.4206C>A c.(4204-4206)ttC>ttA p.F1402L CKAP5_ENST00000312055.5_Missense_Mutation_p.F1402L|CKAP5_ENST00000354558.3_Missense_Mutation_p.F1402L|CKAP5_ENST00000415402.1_Missense_Mutation_p.F1402L Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 1402 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 CAATCAGTTTGAACACCTGAT 0.443000 9 330 2.17888e-05 0.00896397 2.17888e-05 1 0 TMPRSS11D 9407 broad.mit.edu 37 4 68725370 68725370 + Missense_Mutation SNP C C T TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr4:68725370C>T ENST00000283916.6 - 2 133 c.35G>A c.(34-36)aGa>aAa p.R12K RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000509584.1_Intron|TMPRSS11D_ENST00000545541.1_Intron NM_004262.2 NP_004253.1 O60235 TM11D_HUMAN transmembrane protease, serine 11D 12 proteolysis|respiratory gaseous exchange extracellular region|integral to plasma membrane serine-type endopeptidase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 ATTCAGAAATCTTGAAGTCGA 0.388000 66 188 0 0 2.47226e-05 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 8 177 0 0 5.18039e-06 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 11 417 0 0 1.49906e-05 0 0 FAT4 79633 broad.mit.edu 37 4 126411862 126411862 + Missense_Mutation SNP G G A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr4:126411862G>A ENST00000394329.3 + 17 13898 c.13885G>A c.(13885-13887)Gcc>Acc p.A4629T FAT4_ENST00000335110.5_Missense_Mutation_p.A2870T NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4629 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CAGCAGCATCGCCCCTTCGGA 0.512000 11 163 0 0 5.50884e-06 0 0 THBS3 7059 broad.mit.edu 37 1 155170966 155170966 + Translation_Start_Site SNP G G A rs150820199 byFrequency TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr1:155170966G>A ENST00000541990.1 - 0 1365 THBS3_ENST00000457183.2_Silent_p.N333N|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000428962.2_Silent_p.N303N|THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000541576.1_Intron|THBS3_ENST00000368378.3_Silent_p.N453N P49746 TSP3_HUMAN thrombospondin 3 cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity p.N453N(1) breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TCCCACACACGTTCCCATTCC 0.567000 8 480 0 0 1.12685e-05 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587730 43587730 + RNA SNP A A C rs142536398 by1000genomes TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr17:43587730A>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTATTGATTCATTTTATTCAT 0.343000 5 110 0 0 1.23904e-05 0 0 ANKRD24 170961 broad.mit.edu 37 19 4219594 4219594 + Missense_Mutation SNP C C T TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr19:4219594C>T ENST00000600132.1 + 19 3286 c.3010C>T c.(3010-3012)Cgt>Tgt p.R1004C ANKRD24_ENST00000262970.5_Missense_Mutation_p.R1094C|ANKRD24_ENST00000318934.4_Missense_Mutation_p.R1004C NM_133475.1 NP_597732.1 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 1004 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) ACAGGTGCAGCGTGAGGCCCT 0.572000 115 531 0 0 2.47226e-05 0 0 SNHG14 0 broad.mit.edu 37 15 25490493 25490493 + RNA SNP G G A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr15:25490493G>A ENST00000453082.2 + 0 2644 NR_003343.1 GCCAGTGTCCGTCAGCCTGGT 0.617000 95 41 0 0 2.47226e-05 0 0 ZNF606 80095 broad.mit.edu 37 19 58490276 58490276 + Missense_Mutation SNP G G A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr19:58490276G>A ENST00000341164.4 - 7 2392 c.1772C>T c.(1771-1773)aCg>aTg p.T591M ZNF606_ENST00000536132.1_Missense_Mutation_p.T501M NM_025027.3 NP_079303.2 Q8WXB4 ZN606_HUMAN zinc finger protein 606 591 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) TTTCTCTCCCGTGTGAGTTCT 0.418000 13 385 0 0 2.23348e-06 0 0 RP11-206L10.2 0 broad.mit.edu 37 1 700532 700532 + RNA DEL T T - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr1:700532delT ENST00000428504.1 - 0 1021 NR_033908.1 aaaaaaaaaaTTCCTTTGGGA 0.453 8 15 --- --- --- --- ZBTB40 9923 broad.mit.edu 37 1 22838561 22838563 + In_Frame_Del DEL AAG AAG - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr1:22838561_22838563delAAG ENST00000404138.1 + 12 2906_2908 c.2395_2397delAAG c.(2395-2397)del p.K803del ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del|ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 803 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CGATGCCCCCAAGAAGAAGAAGA 0.517 7 210 --- --- --- --- IPP 3652 broad.mit.edu 37 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr1:46184897_46184898delAC ENST00000396478.3 - 6 1265_1266 c.1163_1164delGT c.(1162-1164)tfs p.C388fs NM_005897.2 NP_005888.1 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 388 actin cytoskeleton|cytoplasm actin binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2) 20 Acute lymphoblastic leukemia(166;0.155) TAGCCCCATAACACACACACAC 0.347 7 296 --- --- --- --- NRD1 4898 broad.mit.edu 37 1 52290962 52290962 + Frame_Shift_Del DEL A A - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr1:52290962delA ENST00000354831.7 - 8 1426 c.1237delT c.(1237-1239)ggfs p.W413fs NRD1_ENST00000544028.1_Frame_Shift_Del_p.W213fs|NRD1_ENST00000539524.1_Frame_Shift_Del_p.W281fs|NRD1_ENST00000352171.7_Frame_Shift_Del_p.W345fs|NRD1_ENST00000485608.1_5'UTR NM_002525.2 NP_002516.2 O43847 NRDC_HUMAN nardilysin (N-arginine dibasic convertase) 344 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1) 27 ATCTTACCCCAAAAAAATTTT 0.318 8 727 --- --- --- --- HFE2 148738 broad.mit.edu 37 1 145415369 145415371 + In_Frame_Del DEL GAG GAG - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr1:145415369_145415371delGAG ENST00000336751.5 + 3 426_428 c.188_190delGAG c.(187-192)cga>c p.RG63del HFE2_ENST00000357836.5_5'UTR|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron NM_213653.3 NP_998818.1 Q6ZVN8 RGMC_HUMAN hemochromatosis type 2 (juvenile) 63 axon guidance anchored to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 14 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGAGCACTTCGAGGAGGAGGAGG 0.626 8 289 --- --- --- --- ADAMTSL4 54507 broad.mit.edu 37 1 150530506 150530506 + Frame_Shift_Del DEL G G - rs149280379 TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr1:150530506delG ENST00000271643.4 + 14 2499 c.2263delG c.(2263-2265)ggfs p.G758fs ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs|ADAMTSL4_ENST00000369038.2_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 758 TSP type-1 2. apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GCAGGAATTTGGGGGGGGTGG 0.692 10 665 --- --- --- --- NPR1 4881 broad.mit.edu 37 1 153659175 153659175 + Frame_Shift_Del DEL C C - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr1:153659175delC ENST00000368680.3 + 11 2284 c.1812delC c.(1810-1812)gafs p.D604fs NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 604 Protein kinase. body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity p.N607fs*21(1) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) CCTGCACCGACCCCCCCAATA 0.592 8 577 --- --- --- --- PCP4L1 654790 broad.mit.edu 37 1 161254154 161254156 + In_Frame_Del DEL GGA GGA - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr1:161254154_161254156delGGA ENST00000504449.1 + 3 338_340 c.90_92delGGA c.(88-93)gcg>gc p.AE30del NM_001102566.1 NP_001096036.1 A6NKN8 PC4L1_HUMAN Purkinje cell protein 4 like 1 30 p.A30A(1)|p.E35delE(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 all_cancers(52;4.16e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) TCAAGAAGGCGGAGGAGGAGGAG 0.488 7 390 --- --- --- --- INTS7 25896 broad.mit.edu 37 1 212115191 212115193 + In_Frame_Del DEL TGC TGC - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr1:212115191_212115193delTGC ENST00000366994.3 - 20 2966_2968 c.2862_2864delGCA c.(2860-2865)caa>ca p.QQ954del INTS7_ENST00000440600.2_In_Frame_Del_p.QQ905del|INTS7_ENST00000366993.3_In_Frame_Del_p.QQ940del|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_In_Frame_Del_p.QQ934del NM_001199811.1|NM_001199812.1|NM_015434.3 NP_001186740.1|NP_001186741.1|NP_056249.1 Q9NVH2 INT7_HUMAN integrator complex subunit 7 954 Gln-rich. snRNA processing integrator complex protein binding NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) GGCATTGCGTTGCTGCTGCTGCT 0.443 7 793 --- --- --- --- ROCK2 9475 broad.mit.edu 37 2 11389837 11389837 + Frame_Shift_Del DEL A A - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr2:11389837delA ENST00000315872.6 - 4 860 c.412delT c.(412-414)ggfs p.W138fs ROCK2_ENST00000462366.1_5'UTR NM_004850.3 NP_004841.2 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein kinase 2 138 Protein kinase. axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2) 43 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) CTTTCTTCCCAAAAAAAGGCA 0.358 8 789 --- --- --- --- SSB 6741 broad.mit.edu 37 2 170665008 170665008 + Frame_Shift_Del DEL A A - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr2:170665008delA ENST00000409333.1 + 7 818 c.571delA c.(571-573)aafs p.K192fs SSB_ENST00000260956.4_Frame_Shift_Del_p.K192fs P05455 LA_HUMAN Sjogren syndrome antigen B (autoantigen La) 192 histone mRNA metabolic process|tRNA modification nucleus|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding|tRNA binding endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 TTACTTTGCCAAAAAAAATGA 0.323 13 403 --- --- --- --- CIR1 9541 broad.mit.edu 37 2 175213712 175213713 + Frame_Shift_Ins INS - - T TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr2:175213712_175213713insT ENST00000342016.3 - 10 957_958 c.865_866insA c.(865-867)acafs p.T289fs CIR1_ENST00000362053.5_3'UTR NM_004882.3 NP_004873.3 Q86X95 CIR1_HUMAN corepressor interacting with RBPJ, 1 289 Lys/Ser-rich. mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing nuclear speck protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1) 15 cttcctttgtatttttttttct 0.381 7 308 --- --- --- --- ANKRD44 91526 broad.mit.edu 37 2 197943383 197943384 + Frame_Shift_Del DEL TG TG - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr2:197943383_197943384delTG ENST00000409153.1 - 16 1875_1876 c.1693_1694delCA c.(1693-1695)tfs p.H565fs ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000328737.2_Intron|ANKRD44_ENST00000337207.5_Intron|ANKRD44_ENST00000282272.8_Intron|ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 811 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) ATTTGGGGTATGTGTGTGTGTG 0.411 8 70 --- --- --- --- CRYGEP 0 broad.mit.edu 37 2 208976866 208976867 + RNA DEL AA AA - rs35642558 by1000genomes TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr2:208976866_208976867delAA ENST00000440809.1 - 0 243 AGGAAAAGAGAATATAGTTAGA 0.426 4 5 --- --- --- --- TNS1 7145 broad.mit.edu 37 2 218712887 218712889 + In_Frame_Del DEL GCT GCT - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr2:218712887_218712889delGCT ENST00000171887.4 - 17 2428_2430 c.1976_1978delAGC c.(1975-1980)cct>c p.QP659del TNS1_ENST00000430930.1_In_Frame_Del_p.QP659del|TNS1_ENST00000419504.1_In_Frame_Del_p.QP659del NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 659 Gln-rich. cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GGTGGGCGAGgctgctgctgctg 0.660 9 73 --- --- --- --- LIMD1 8994 broad.mit.edu 37 3 45636543 45636545 + In_Frame_Del DEL CAG CAG - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr3:45636543_45636545delCAG ENST00000273317.4 + 1 193_195 c.172_174delCAG c.(172-174)del p.Q63del LIMD1_ENST00000440097.1_In_Frame_Del_p.Q63del|LIMD1_ENST00000465039.1_Intron NM_014240.2 NP_055055.1 Q9UGP4 LIMD1_HUMAN LIM domains containing 1 63 Mediates nuclear export. cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315) AATCCACCTCCAGCAGCAGCAGC 0.626 7 140 --- --- --- --- CACNA1D 776 broad.mit.edu 37 3 53529193 53529195 + Translation_Start_Site DEL GAT GAT - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr3:53529193_53529195delGAT ENST00000288139.3 + 0 118_120 CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000350061.5_Start_Codon_Del NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) aatgttcgtGgatgatgatgatg 0.581 9 385 --- --- --- --- GOLIM4 27333 broad.mit.edu 37 3 167747642 167747644 + In_Frame_Del DEL CTG CTG - rs61743912 byFrequency TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr3:167747642_167747644delCTG ENST00000470487.1 - 10 2046_2048 c.1357_1359delCAG c.(1357-1359)del p.Q453del GOLIM4_ENST00000309027.4_In_Frame_Del_p.Q425del NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 453 Gln-rich.|Glu-rich. transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CTCTTGCCACctgctgctgctgc 0.640 8 185 --- --- --- --- WDR17 116966 broad.mit.edu 37 4 177052725 177052725 + Frame_Shift_Del DEL A A - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr4:177052725delA ENST00000393643.2 + 7 1186 c.934delA c.(934-936)aafs p.K312fs WDR17_ENST00000508596.1_Frame_Shift_Del_p.K312fs|WDR17_ENST00000280190.4_Frame_Shift_Del_p.K336fs|WDR17_ENST00000507824.2_Frame_Shift_Del_p.K319fs NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 336 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) ATCTCCAACCAAAAATCATTA 0.338 7 488 --- --- --- --- BDP1 55814 broad.mit.edu 37 5 70751780 70751798 + Frame_Shift_Del DEL AATCCCCAGCGTGGACGGG AATCCCCAGCGTGGACGGG - rs3748042 TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr5:70751780_70751798delAATCCCCAGCGTGGACGGG ENST00000358731.4 + 1 339_357 c.76_94delAATCCCCAGCGTGGACGGG c.(76-96)agfs p.NPQRGRE26fs BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 26 Interaction with ZBTB43. N -> S (in dbSNP:rs3748042). regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) CACAGCTTCCAATCCCCAGCGTGGACGGGAGTCTCCCAG 0.680 14 69 --- --- --- --- PCDHB4 0 broad.mit.edu 37 5 140502486 140502487 + Frame_Shift_Ins INS - - A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr5:140502486_140502487insA ENST00000194152.1 + 1 906_907 c.906_907insA c.(904-909)ttaaaafs p.LK302fs NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 302 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding p.K305fs*12(1) autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAATACTGTTGAAAAAAAAATT 0.366 7 581 --- --- --- --- RNF145 153830 broad.mit.edu 37 5 158630642 158630642 + Frame_Shift_Del DEL T T - rs74770414 TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr5:158630642delT ENST00000274542.2 - 2 94 c.68delA c.(67-69)agfs p.K26fs RNF145_ENST00000520638.1_Frame_Shift_Del_p.K12fs|RNF145_ENST00000521606.2_Frame_Shift_Del_p.K15fs|RNF145_ENST00000518802.1_Frame_Shift_Del_p.K28fs|RNF145_ENST00000424310.2_5'UTR|RNF145_ENST00000519865.1_5'UTR NM_144726.2 NP_653327.1 Q96MT1 RN145_HUMAN ring finger protein 145 0 integral to membrane zinc ion binding endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) tttttttttcttttttttttt 0.363 10 170 --- --- --- --- OLIG3 167826 broad.mit.edu 37 6 137815210 137815212 + In_Frame_Del DEL TGG TGG - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr6:137815210_137815212delTGG ENST00000367734.2 - 1 319_321 c.96_98delCCA c.(94-99)cag>ca p.HQ32del NM_175747.2 NP_786923.1 Q7RTU3 OLIG3_HUMAN oligodendrocyte transcription factor 3 32 Poly-His. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.Q33K(1) endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 11 Breast(32;0.165)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447) ACGGCTCTCCtggtggtggtggt 0.596 7 780 --- --- --- --- CCDC28A 25901 broad.mit.edu 37 6 139097330 139097330 + Frame_Shift_Del DEL A A - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr6:139097330delA ENST00000332797.6 + 2 498 c.343delA c.(343-345)aafs p.K116fs NM_015439.2 NP_056254.1 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 116 p.N117fs*5(2) autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1) 13 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) TGTCAATGCCAAAAAAAATGC 0.413 7 471 --- --- --- --- MTHFD1L 25902 broad.mit.edu 37 6 151358163 151358164 + Frame_Shift_Ins INS - - A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr6:151358163_151358164insA ENST00000367321.3 + 26 3031_3032 c.2757_2758insA c.(2755-2760)gaaaaafs p.EK919fs NM_001242767.1|NM_001242768.1|NM_015440.4 NP_001229696.1|NP_001229697.1|NP_056255.2 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 919 Formyltetrahydrofolate synthetase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity p.L914fs*14(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 29 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) ACCAACCTGACAAAAAAGGTGT 0.480 8 442 --- --- --- --- CCT6P3 0 broad.mit.edu 37 7 64530071 64530072 + RNA INS - - T TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr7:64530071_64530072insT ENST00000426828.1 + 0 891_892 NR_033416.1 GTGGCCCTGAATTCTTTTGAGG 0.406 109 214 --- --- --- --- INTS4L2 0 broad.mit.edu 37 7 65150816 65150816 + RNA DEL A A - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr7:65150816delA ENST00000430126.2 + 0 757 TTCATCCCTCACCCCCCCCCC 0.463 7 50 --- --- --- --- STEAP2 261729 broad.mit.edu 37 7 89856465 89856465 + Frame_Shift_Del DEL T T - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr7:89856465delT ENST00000287908.3 + 3 1066 c.673delT c.(673-675)ttfs p.F227fs STEAP2_ENST00000394629.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394621.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394622.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394626.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000402625.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394632.1_Frame_Shift_Del_p.F227fs NM_001244944.1|NM_152999.3 NP_001231873.1|NP_694544.2 Q8NFT2 STEA2_HUMAN STEAP family member 2, metalloreductase 227 electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 15 all_hematologic(106;0.112) CTTGGCCACATTTTTTTTCCT 0.393 8 1096 --- --- --- --- OR9A4 130075 broad.mit.edu 37 7 141619202 141619203 + Frame_Shift_Ins INS - - T TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr7:141619202_141619203insT ENST00000548136.1 + 1 586_587 c.527_528insT c.(526-528)attfs p.I176fs MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.N176I(1) NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) GTGGTGAACAATTTTTTTTGTG 0.381 11 697 --- --- --- --- MCPH1 79648 broad.mit.edu 37 8 6289099 6289099 + Frame_Shift_Del DEL A A - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr8:6289099delA ENST00000344683.5 + 4 389 c.313delA c.(313-315)aafs p.K107fs MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs NM_024596.3 NP_078872.2 Q8NEM0 MCPH1_HUMAN microcephalin 1 107 microtubule organizing center AGPAT5/MCPH1(2) central_nervous_system(1)|large_intestine(4)|skin(1) 6 Hepatocellular(245;0.0663) Colorectal(4;0.0505) AAGCCTAATTAAAAAAAAAGT 0.274 8 256 --- --- --- --- RP1L1 94137 broad.mit.edu 37 8 10480104 10480104 + Splice_Site DEL T T - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr8:10480104delT ENST00000382483.3 - 2 831 c.609_splice c.e2+1 p.K203_splice RP1L1_ENST00000329335.3_5'UTR NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 203 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) ACAGCCTACCTTTTTCCCGCT 0.483 9 752 --- --- --- --- DLC1 10395 broad.mit.edu 37 8 12957611 12957613 + In_Frame_Del DEL GCT GCT - rs137989738 TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr8:12957611_12957613delGCT ENST00000276297.4 - 9 2642_2644 c.2233_2235delAGC c.(2233-2235)del p.S745del DLC1_ENST00000512044.2_In_Frame_Del_p.S342del|DLC1_ENST00000520226.1_In_Frame_Del_p.S234del|DLC1_ENST00000358919.2_In_Frame_Del_p.S308del NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 745 Poly-Ser. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 TCTCCGACTGGCTGCTGCTGCTG 0.621 8 206 --- --- --- --- PRKDC 5591 broad.mit.edu 37 8 48746799 48746799 + Frame_Shift_Del DEL T T - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr8:48746799delT ENST00000314191.2 - 60 8163 c.8107delA c.(8107-8109)ggfs p.R2703fs PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2704 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AGGCCCAGCCTTTTTTTCCCA 0.498 Non-homologous end-joining 7 1485 --- --- --- --- UBR5 51366 broad.mit.edu 37 8 103289348 103289349 + Frame_Shift_Ins INS - - T TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr8:103289348_103289349insT ENST00000520539.1 - 45 6966_6967 c.6360_6361insA c.(6358-6363)aaaaggfs p.R2121fs UBR5_ENST00000521922.1_Frame_Shift_Ins_p.R2115fs|UBR5_ENST00000220959.4_Frame_Shift_Ins_p.R2121fs NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2121 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding p.E2121fs*28(2) NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TCTTCCCCTTCTTTTTTTTGCC 0.381 11 745 --- --- --- --- RIMS2 9699 broad.mit.edu 37 8 104927779 104927779 + Frame_Shift_Del DEL A A - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr8:104927779delA ENST00000507740.1 + 5 1529 c.1293delA c.(1291-1293)gtfs p.V431fs RIMS2_ENST00000262231.10_Frame_Shift_Del_p.V478fs|RIMS2_ENST00000406091.3_Frame_Shift_Del_p.V623fs|RIMS2_ENST00000436393.2_Frame_Shift_Del_p.V401fs NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 701 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding p.G434fs*3(1)|p.G709fs*3(1)|p.G404fs*3(1) 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) TTACTAAAGTAAAAAAAGGAA 0.323 HNSCC(12;0.0054) 7 384 --- --- --- --- AGO2 27161 broad.mit.edu 37 8 141554345 141554345 + Frame_Shift_Del DEL G G - rs148575703 byFrequency TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr8:141554345delG ENST00000220592.5 - 14 1918 c.1806delC c.(1804-1806)ccfs p.P602fs AGO2_ENST00000519980.1_Frame_Shift_Del_p.P602fs NM_012154.3 NP_036286.2 argonaute RISC catalytic component 2 CATCCCCGGCGGGGGGGTGAG 0.647 10 1295 --- --- --- --- MPP7 143098 broad.mit.edu 37 10 28412986 28412986 + Frame_Shift_Del DEL T T - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr10:28412986delT ENST00000337532.5 - 9 865 c.589delA c.(589-591)ggfs p.R197fs MPP7_ENST00000540098.1_Frame_Shift_Del_p.R197fs|MPP7_ENST00000445954.2_Frame_Shift_Del_p.R72fs|MPP7_ENST00000375719.3_Frame_Shift_Del_p.R197fs|MPP7_ENST00000375732.1_Frame_Shift_Del_p.R197fs NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 197 PDZ. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 TCCTCAGGCCTTTTATCCTCC 0.353 7 920 --- --- --- --- VTI1A 143187 broad.mit.edu 37 10 114220332 114220333 + Frame_Shift_Ins INS - - A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr10:114220332_114220333insA ENST00000393077.2 + 2 260_261 c.144_145insA c.(142-147)gcaagafs p.R49fs VTI1A_ENST00000432306.1_Frame_Shift_Ins_p.R49fs NM_145206.2 NP_660207.2 Q96AJ9 VTI1A_HUMAN vesicle transport through interaction with t-SNAREs 1A 49 intracellular protein transport|retrograde transport, endosome to Golgi SNARE complex protein transporter activity|SNAP receptor activity VTI1A/TCF7L2(8) breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 6 Colorectal(252;0.0314)|Breast(234;0.183) Epithelial(162;0.0126)|all cancers(201;0.0487) TTGAAGAAGCGAAAGAACTGGT 0.342 T TCF7L2 colorectal 7 319 --- --- --- --- TACC2 10579 broad.mit.edu 37 10 123971198 123971200 + In_Frame_Del DEL AAG AAG - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr10:123971198_123971200delAAG ENST00000369005.1 + 9 7598_7600 c.7258_7260delAAG c.(7258-7260)del p.K2423del TACC2_ENST00000513429.1_In_Frame_Del_p.K569del|TACC2_ENST00000453444.2_In_Frame_Del_p.K2427del|TACC2_ENST00000260733.3_In_Frame_Del_p.K501del|TACC2_ENST00000369004.3_In_Frame_Del_p.K501del|TACC2_ENST00000368999.1_In_Frame_Del_p.K501del|TACC2_ENST00000358010.1_In_Frame_Del_p.K569del|TACC2_ENST00000369000.1_In_Frame_Del_p.K127del|TACC2_ENST00000515273.1_In_Frame_Del_p.K2427del|TACC2_ENST00000369001.1_In_Frame_Del_p.K127del|TACC2_ENST00000360561.3_In_Frame_Del_p.K501del|TACC2_ENST00000334433.3_In_Frame_Del_p.K2423del|TACC2_ENST00000515603.1_In_Frame_Del_p.K2378del NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2423 Poly-Lys. microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CAAGCCCGCCAAGAAGAAGAAGA 0.576 7 309 --- --- --- --- UBQLN3 50613 broad.mit.edu 37 11 5529918 5529920 + In_Frame_Del DEL TGG TGG - rs2234451 byFrequency TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr11:5529918_5529920delTGG ENST00000311659.4 - 2 1016_1018 c.869_871delCCA c.(868-873)agc>a p.TS290del HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 290 T -> S (in dbSNP:rs2234451). NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAGGTTGGCTGGTGGTGGTGGT 0.537 7 484 --- --- --- --- FAM111B 374393 broad.mit.edu 37 11 58892377 58892377 + Frame_Shift_Del DEL A A - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr11:58892377delA ENST00000343597.3 + 4 998 c.807delA c.(805-807)tcfs p.S269fs FAM111B_ENST00000411426.1_Frame_Shift_Del_p.S239fs|FAM111B_ENST00000529618.1_Frame_Shift_Del_p.S239fs NM_198947.3 NP_945185.1 Q6SJ93 F111B_HUMAN family with sequence similarity 111, member B 269 catalytic activity p.A273fs*9(1)|p.K272delK(1)|p.A273fs*26(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1) 40 TGGACATTTCAAAAAAAAAAG 0.313 20 226 --- --- --- --- IFT46 56912 broad.mit.edu 37 11 118427683 118427685 + In_Frame_Del DEL ATC ATC - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr11:118427683_118427685delATC ENST00000264020.2 - 5 651_653 c.274_276delGAT c.(274-276)del p.D92del IFT46_ENST00000264021.3_In_Frame_Del_p.D41del|IFT46_ENST00000530872.1_In_Frame_Del_p.D92del NM_020153.3 NP_064538.3 Q9NQC8 IFT46_HUMAN intraflagellar transport 46 homolog (Chlamydomonas) 41 flagellum assembly|intraflagellar transport|protein stabilization microtubule basal body|microtubule-based flagellum|nucleus protein C-terminus binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 9 TTTCAGATGAatcatcatcatca 0.478 8 468 --- --- --- --- FOXJ2 55810 broad.mit.edu 37 12 8200558 8200560 + In_Frame_Del DEL CAG CAG - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr12:8200558_8200560delCAG ENST00000162391.3 + 7 2043_2045 c.898_900delCAG c.(898-900)del p.Q306del FOXJ2_ENST00000428177.2_In_Frame_Del_p.Q306del NM_018416.2 NP_060886.1 Q9P0K8 FOXJ2_HUMAN forkhead box J2 306 Poly-Gln. embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 16 Kidney(36;0.0944) gccacctcaacagcagcagcagc 0.640 15 289 --- --- --- --- MBD6 0 broad.mit.edu 37 12 57919786 57919787 + Frame_Shift_Ins INS - - C TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr12:57919786_57919787insC ENST00000355673.3 + 6 1391_1392 c.1035_1036insC c.(1033-1038)agcccgfs p.SP345fs MBD6_ENST00000431731.2_Frame_Shift_Ins_p.SP345fs NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 345 Pro-rich. chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 AGGGCCGAAGGCCCCGTGCCCA 0.639 11 209 --- --- --- --- SUGT1P3 0 broad.mit.edu 37 13 41488419 41488420 + RNA INS - - A rs34364962 by1000genomes TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr13:41488419_41488420insA ENST00000304932.4 - 0 214 NR_003365.2 CCCTTCCTCCCAAAAGTAGACA 0.450 6 4 --- --- --- --- ESD 2098 broad.mit.edu 37 13 47354112 47354112 + Frame_Shift_Del DEL T T - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr13:47354112delT ENST00000378720.3 - 8 740 c.558delA c.(556-558)aafs p.K186fs ESD_ENST00000378697.1_Frame_Shift_Del_p.K157fs|ESD_ENST00000495654.1_5'UTR NM_001984.1 NP_001975.1 P10768 ESTD_HUMAN esterase D 186 cytoplasmic membrane-bounded vesicle carboxylesterase activity|S-formylglutathione hydrolase activity endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1) 9 all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) GBM - Glioblastoma multiforme(144;2.66e-05) Glutathione(DB00143) CACTAAAGGCTTTTTTGCCCC 0.353 10 963 --- --- --- --- FBXL3 26224 broad.mit.edu 37 13 77581683 77581683 + Frame_Shift_Del DEL A A - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr13:77581683delA ENST00000355619.5 - 5 1208 c.884delT c.(883-885)tafs p.L295fs FBXL3_ENST00000477982.1_Intron NM_012158.2 NP_036290.1 Q9UKT7 FBXL3_HUMAN F-box and leucine-rich repeat protein 3 295 regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity p.L295fs*3(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1) 16 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218) GBM - Glioblastoma multiforme(99;0.0521) TTCTTCATATAAAAAAAAATA 0.418 10 424 --- --- --- --- TRAV9-2 0 broad.mit.edu 37 14 22409539 22409539 + RNA DEL C C - rs2178778 TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr14:22409539delC ENST00000390441.2 + 0 102 ctctctctctctTTTTTTTTT 0.428 7 65 --- --- --- --- LRP10 26020 broad.mit.edu 37 14 23341527 23341529 + In_Frame_Del DEL CCT CCT - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr14:23341527_23341529delCCT ENST00000359591.4 + 1 706_708 c.15_17delCCT c.(13-18)acc>ac p.TL5del LRP10_ENST00000546834.1_In_Frame_Del_p.TL5del NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 5 endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) TGTTGGCCACCCTCCTCCTCCTC 0.670 7 329 --- --- --- --- SIPA1L1 26037 broad.mit.edu 37 14 72190482 72190484 + In_Frame_Del DEL TCC TCC - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr14:72190482_72190484delTCC ENST00000555818.1 + 16 4738_4740 c.4390_4392delTCC c.(4390-4392)del p.S1468del SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1468 Ser-rich. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ctcctcctcttcctcctcctcct 0.552 8 551 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25310192 25310193 + RNA INS - - A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr15:25310192_25310193insA ENST00000549804.2 + 0 538 SNHG14_ENST00000551077.1_RNA|SNORD116-6_ENST00000384711.1_RNA ATGAGTCCTCCAAAAAAAACAT 0.475 17 1254 --- --- --- --- PRC1 9055 broad.mit.edu 37 15 91527307 91527308 + Frame_Shift_Ins INS - - T TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr15:91527307_91527308insT ENST00000361188.5 - 3 1418_1419 c.207_208insA c.(205-210)atccgtfs p.R70fs PRC1_ENST00000556129.1_5'UTR|PRC1_ENST00000394249.3_Frame_Shift_Ins_p.R70fs|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000361919.3_Frame_Shift_Ins_p.R70fs|PRC1_ENST00000442656.2_Intron O43663 PRC1_HUMAN protein regulator of cytokinesis 1 70 Dimerization. cytokinesis|mitotic spindle elongation cytoplasm|nucleus|spindle microtubule|spindle pole protein binding endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2) 25 Lung NSC(78;0.0987)|all_lung(78;0.175) TGACAGACGGATATGCTTTTGA 0.490 462 779 --- --- --- --- RP11-266O8.1 0 broad.mit.edu 37 15 93974510 93974510 + RNA DEL C C - rs57286078 TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr15:93974510delC ENST00000543286.1 + 0 545 TGGCTGGGTTCtttttttttt 0.433 7 82 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102292971 102292974 + RNA DEL CTCA CTCA - rs75843814 TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr15:102292971_102292974delCTCA ENST00000561463.1 + 0 1017_1020 GATGCTGCTTCTCAGAGCTGCTGT 0.583 8 103 --- --- --- --- TAOK2 9344 broad.mit.edu 37 16 29994531 29994533 + In_Frame_Del DEL GAG GAG - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr16:29994531_29994533delGAG ENST00000308893.4 + 12 2181_2183 c.1138_1140delGAG c.(1138-1140)del p.E392del TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del|TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 392 Glu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CAACgaggaagaggaggaggagg 0.611 10 129 --- --- --- --- RP11-44F14.1 0 broad.mit.edu 37 16 53404542 53404543 + RNA INS - - A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr16:53404542_53404543insA ENST00000565421.1 - 0 410 TCTCCTTTCTCAAACTTAACCT 0.327 13 181 --- --- --- --- CDH8 1006 broad.mit.edu 37 16 61935344 61935344 + Frame_Shift_Del DEL T T - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr16:61935344delT ENST00000577390.1 - 3 1240 c.286delA c.(286-288)tcfs p.I96fs CDH8_ENST00000299345.6_Frame_Shift_Del_p.I96fs|CDH8_ENST00000584337.1_Frame_Shift_Del_p.I96fs|CDH8_ENST00000577730.1_Frame_Shift_Del_p.I96fs NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 96 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) ATATACTTGATTTTTTTGCTC 0.373 7 717 --- --- --- --- CMTM1 113540 broad.mit.edu 37 16 66603929 66603930 + Frame_Shift_Ins INS - - T TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr16:66603929_66603930insT ENST00000379500.2 + 2 590_591 c.523_524insT c.(523-525)tttfs p.F175fs CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000533953.1_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000328020.6_Frame_Shift_Ins_p.F175fs|CMTM1_ENST00000528324.1_Frame_Shift_Ins_p.F58fs|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000457188.2_Frame_Shift_Ins_p.F58fs|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000332695.7_Intron NM_052999.3|NM_181268.2 NP_443725.3|NP_851785.2 Q8IZ96 CKLF1_HUMAN CKLF-like MARVEL transmembrane domain containing 1 58 chemotaxis extracellular space|integral to membrane cytokine activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 7 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222) CTGCATTGTCGTTTTTTTTATT 0.347 8 824 --- --- --- --- MYOCD 93649 broad.mit.edu 37 17 12647692 12647694 + In_Frame_Del DEL CAG CAG - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr17:12647692_12647694delCAG ENST00000425538.1 + 8 1110_1112 c.910_912delCAG c.(910-912)del p.Q310del MYOCD_ENST00000343344.4_In_Frame_Del_p.Q310del|MYOCD_ENST00000395988.1_In_Frame_Del_p.Q214del NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 310 Gln-rich. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) AATCCTCAGCcagcagcagcagc 0.596 8 125 --- --- --- --- GAS2L2 246176 broad.mit.edu 37 17 34071994 34071996 + In_Frame_Del DEL TCC TCC - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr17:34071994_34071996delTCC ENST00000254466.6 - 6 2547_2549 c.2520_2522delGGA c.(2518-2523)gaa>ga p.EE840del GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 840 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ctcctttccttcctcctcctcct 0.616 10 193 --- --- --- --- FHOD3 80206 broad.mit.edu 37 18 34261459 34261460 + Frame_Shift_Del DEL AG AG - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr18:34261459_34261460delAG ENST00000257209.4 + 12 1493_1494 c.1371_1372delAG c.(1369-1374)gcagfs p.AE457fs FHOD3_ENST00000590592.1_Frame_Shift_Del_p.AE632fs|FHOD3_ENST00000445677.1_Frame_Shift_Del_p.AE419fs|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000359247.4_Frame_Shift_Del_p.AE457fs NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 457 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CACTGGCAGCAGAGAGAGAGAG 0.460 14 222 --- --- --- --- LMAN1 3998 broad.mit.edu 37 18 57013193 57013194 + Frame_Shift_Ins INS - - T TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr18:57013193_57013194insT ENST00000251047.5 - 8 1629_1630 c.912_913insA c.(910-915)aaaggafs p.G305fs NM_005570.3 NP_005561.1 P49257 LMAN1_HUMAN lectin, mannose-binding, 1 305 blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane mannose binding|metal ion binding|unfolded protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Colorectal(73;0.0946) Antihemophilic Factor(DB00025) TGGAATTCCTCTTTTTTTTTAT 0.455 8 268 --- --- --- --- MBD3 53615 broad.mit.edu 37 19 1578372 1578374 + In_Frame_Del DEL CTC CTC - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr19:1578372_1578374delCTC ENST00000590550.2 - 5 1046_1048 c.673_675delGAG c.(673-675)del p.E225del MBD3_ENST00000592012.1_In_Frame_Del_p.E249del|MBD3_ENST00000156825.1_In_Frame_Del_p.E281del|MBD3_ENST00000434436.3_In_Frame_Del_p.E281del O95983 MBD3_HUMAN methyl-CpG binding domain protein 3 281 transcription, DNA-dependent NuRD complex DNA binding|protein binding central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18) CCGGGTCGGGctcctcctcctcc 0.714 7 100 --- --- --- --- DNMT1 1786 broad.mit.edu 37 19 10262139 10262139 + Frame_Shift_Del DEL T T - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr19:10262139delT ENST00000340748.4 - 23 2387 c.2152delA c.(2152-2154)tgfs p.M718fs DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs|DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 718 chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) CCCTGGTGCATTTTTTTGGGT 0.507 8 558 --- --- --- --- CRTC1 23373 broad.mit.edu 37 19 18887992 18887993 + Frame_Shift_Ins INS - - C TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr19:18887992_18887993insC ENST00000338797.6 + 15 1778_1779 c.1753_1754insC c.(1753-1755)cccfs p.P585fs CRTC1_ENST00000321949.8_Frame_Shift_Ins_p.P569fs|CRTC1_ENST00000601916.1_Frame_Shift_Ins_p.P327fs|CRTC1_ENST00000594658.1_Frame_Shift_Ins_p.P528fs NM_001098482.1 NP_001091952.1 Q6UUV9 CRTC1_HUMAN CREB regulated transcription coactivator 1 569 interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane cAMP response element binding protein binding|protein binding p.S572fs*6(2) CRTC1/MAML2(516) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 19 GACAGGAGAGTCCCCCCCCAGC 0.639 7 263 --- --- --- --- CTCFL 140690 broad.mit.edu 37 20 56099187 56099187 + Frame_Shift_Del DEL T T - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chr20:56099187delT ENST00000426658.2 - 1 736 c.75delA c.(73-75)aafs p.K25fs CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 25 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CCTTCAGGCCTTTTTCCGGCA 0.502 7 1490 --- --- --- --- MAGEC1 9947 broad.mit.edu 37 X 140994844 140994846 + In_Frame_Del DEL CCT CCT - TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42e059c-cdb8-4a32-83d3-298334042c3e 1ad317bb-1738-4a90-a9a5-17f34cb9357e g.chrX:140994844_140994846delCCT ENST00000285879.4 + 4 1940_1942 c.1654_1656delCCT c.(1654-1656)del p.P553del MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 553 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TCCTCAGAGCCCTCCTCAGGGGG 0.567 HNSCC(15;0.026) 8 941 --- --- --- ---