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 COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_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 ACHILLES_Lineage_Results_Top_Genes CGC_CancerGermlineMut CGC_CancerMolecularGenetics CGC_CancerSomaticMut CGC_CancerSyndrome CGC_Chr CGC_ChrBand CGC_GeneID CGC_Name CGC_OtherGermlineMut CGC_TissueType COSMIC_n_overlapping_mutations COSMIC_overlapping_mutation_descriptions ClinVar_ASSEMBLY ClinVar_HGMD_ID ClinVar_SYM ClinVar_TYPE ClinVar_rs Ensembl_so_accession Ensembl_so_term Familial_Cancer_Genes_Reference Familial_Cancer_Genes_Synonym annotation_transcript bcgsc broad build ccds_id dbNSFP_1000Gp1_AC dbNSFP_1000Gp1_AF dbNSFP_1000Gp1_AFR_AC dbNSFP_1000Gp1_AFR_AF dbNSFP_1000Gp1_AMR_AC dbNSFP_1000Gp1_AMR_AF dbNSFP_1000Gp1_ASN_AC dbNSFP_1000Gp1_ASN_AF dbNSFP_1000Gp1_EUR_AC dbNSFP_1000Gp1_EUR_AF dbNSFP_Ancestral_allele dbNSFP_CADD_phred dbNSFP_CADD_raw dbNSFP_CADD_raw_rankscore dbNSFP_ESP6500_AA_AF dbNSFP_ESP6500_EA_AF dbNSFP_Ensembl_geneid dbNSFP_Ensembl_transcriptid dbNSFP_FATHMM_pred dbNSFP_FATHMM_rankscore dbNSFP_FATHMM_score dbNSFP_GERP_NR dbNSFP_GERP_RS dbNSFP_GERP_RS_rankscore dbNSFP_Interpro_domain dbNSFP_LRT_Omega dbNSFP_LRT_converted_rankscore dbNSFP_LRT_pred dbNSFP_LRT_score dbNSFP_LR_pred dbNSFP_LR_rankscore dbNSFP_LR_score dbNSFP_MutationAssessor_pred dbNSFP_MutationAssessor_rankscore dbNSFP_MutationAssessor_score dbNSFP_MutationTaster_converted_rankscore dbNSFP_MutationTaster_pred dbNSFP_MutationTaster_score dbNSFP_Polyphen2_HDIV_pred dbNSFP_Polyphen2_HDIV_rankscore dbNSFP_Polyphen2_HDIV_score dbNSFP_Polyphen2_HVAR_pred dbNSFP_Polyphen2_HVAR_rankscore dbNSFP_Polyphen2_HVAR_score dbNSFP_RadialSVM_pred dbNSFP_RadialSVM_rankscore dbNSFP_RadialSVM_score dbNSFP_Reliability_index dbNSFP_SIFT_converted_rankscore dbNSFP_SIFT_pred dbNSFP_SIFT_score dbNSFP_SLR_test_statistic dbNSFP_SiPhy_29way_logOdds dbNSFP_SiPhy_29way_logOdds_rankscore dbNSFP_SiPhy_29way_pi dbNSFP_UniSNP_ids dbNSFP_Uniprot_aapos dbNSFP_Uniprot_acc dbNSFP_Uniprot_id dbNSFP_aaalt dbNSFP_aapos dbNSFP_aapos_FATHMM dbNSFP_aapos_SIFT dbNSFP_aaref dbNSFP_cds_strand dbNSFP_codonpos dbNSFP_folddegenerate dbNSFP_genename dbNSFP_hg18_pos1coor dbNSFP_phastCons100way_vertebrate dbNSFP_phastCons100way_vertebrate_rankscore dbNSFP_phastCons46way_placental dbNSFP_phastCons46way_placental_rankscore dbNSFP_phastCons46way_primate dbNSFP_phastCons46way_primate_rankscore dbNSFP_phyloP100way_vertebrate dbNSFP_phyloP100way_vertebrate_rankscore dbNSFP_phyloP46way_placental dbNSFP_phyloP46way_placental_rankscore dbNSFP_phyloP46way_primate dbNSFP_phyloP46way_primate_rankscore dbNSFP_refcodon entrez_gene_id external_id_capture gencode_transcript_name gencode_transcript_status gencode_transcript_tags gencode_transcript_type gene_type havana_transcript hgsc igv_bad ucsc t_alt_count t_ref_count n_alt_count n_ref_count validation_judgement_rna validation_power_rna validation_tumor_alt_count_rna validation_tumor_ref_count_rna validation_normal_alt_count_rna validation_normal_ref_count_rna min_val_count_rna validation_judgement_targeted validation_power_targeted validation_tumor_alt_count_targeted validation_tumor_ref_count_targeted validation_normal_alt_count_targeted validation_normal_ref_count_targeted min_val_count_targeted validation_judgement_localAssembly validation_power_localAssembly t_alt_count_localAssembly t_ref_count_localAssembly n_alt_count_localAssembly n_ref_count_localAssembly min_val_count_localAssembly validation_judgement_KRAS validation_power_KRAS t_alt_count_KRAS t_ref_count_KRAS n_alt_count_KRAS n_ref_count_KRAS min_val_count_KRAS pon_loglike pon_pass_loglike localAssembly_detected ExAC_AN ExAC_AC ExAC_LQ passExAC SCNA_NA SCNA_NB SCNA_q_hat SCNA_tau IS_SCNA purity ploidy dna_fraction_in_tumor CCF_hat CCF_CI95_low CCF_CI95_high CCF_mode CCF_mean CCF_median clonal CCF_CI_low CCF_CI_high PPAPDC1A 196051 broad.mit.edu 37 10 122334762 122334762 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr10:122334762G>A ENST00000398250.1 + 6 917 c.565G>A c.(565-567)Gcc>Acc p.A189T PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.A189T|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000496437.1_3'UTR|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.A126T|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.A179T NM_001030059.1 NP_001025230.1 Q5VZY2 PPC1A_HUMAN phosphatidic acid phosphatase type 2 domain containing 1A 20 Lung NSC(174;0.1)|all_lung(145;0.132) CTTGTACTGCGCCATGATGAT 0.607000 0 SO:0001583 missense ENST00000398250.1 1 1 hg19 CCDS41573.1 . . . . . . . . . . G 36 5.703959 0.96812 . . ENSG00000203805 ENST00000439221;ENST00000398250;ENST00000427079;ENST00000541332;ENST00000369073 T;D;D;D;D 0.82619 -1.34;-1.63;-1.63;-1.63;-1.63 5.76 5.76 0.90799 Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1); 0.000000 0.85682 D 0.000000 D 0.93638 0.7968 M 0.92833 3.35 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 1.0;0.998;0.994 D 0.94162 0.7415 10 0.62326 D 0.03 -16.6314 19.9694 0.97278 0.0:0.0:1.0:0.0 . 189;126;189 B7Z3R3;Q5VZY2-2;Q5VZY2 .;.;PPC1A_HUMAN T 126;189;189;189;179 ENSP00000403508:A126T;ENSP00000381302:A189T;ENSP00000407979:A189T;ENSP00000440493:A189T;ENSP00000358069:A179T ENSP00000358069:A179T A + 1 0 PPAPDC1A 122324752 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 9.785000 0.99042 2.719000 0.93026 0.655000 0.94253 GCC TCGA-IB-AAUP-01A-11D-A377-08 PPAPDC1A-202 KNOWN basic|appris_principal|CCDS protein_coding protein_coding 1 0 0 15 321 0 77 0 8.665036e-01 1 78 0 77 2 0 0 0 0 0 2 1 0.999875 15 319 0 77 2 0 0 0 0 77 2 -3.318794 1 1 0 0 1 1 2 3 2.002328 0 0.150000 2.100000 0.156955 0.620000 0.360000 1.000000 0.590000 0.658450 0.620000 0 0.470000 0.850000 ANKRD30A 91074 broad.mit.edu 37 10 37431076 37431076 + Silent SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr10:37431076C>T ENST00000602533.1 + 7 1182 c.1083C>T c.(1081-1083)atC>atT p.I361I ANKRD30A_ENST00000374660.1_Silent_p.I361I|ANKRD30A_ENST00000361713.1_Silent_p.I361I Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 158 CTAGGAAGATCGCATGGGAGA 0.393000 0 SO:0001819 synonymous_variant ENST00000602533.1 1 1 hg19 TCGA-IB-AAUP-01A-11D-A377-08 ANKRD30A-001 KNOWN NMD_exception|basic|appris_principal protein_coding protein_coding OTTHUMT00000047588.2 0 0 0 17 438 0 125 0 0 0 0 125 2 0 0 0 0 0 2 1 0.999961 17 430 0 125 2 0 0 0 0 125 2 -3.473536 1 1 0 0 1 1 2 3 2.030868 0 0.150000 2.100000 0.163180 0.540000 0.310000 1.000000 0.500000 0.601863 0.540000 0 0.410000 0.920000 FAM35A 54537 broad.mit.edu 37 10 88930319 88930319 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr10:88930319C>T ENST00000298784.1 + 5 1832 c.1718C>T c.(1717-1719)cCg>cTg p.P573L FAM35A_ENST00000298786.4_Missense_Mutation_p.P573L NM_019054.2 NP_061927.2 Q86V20 FA35A_HUMAN family with sequence similarity 35, member A 16 GATCTTCCTCCGAGGCAGCCT 0.418000 Ovarian(175;703 2004 25460 32514 43441) 0 SO:0001583 missense ENST00000298784.1 1 1 hg19 CCDS7383.1 . . . . . . . . . . c 0.300 -0.974237 0.02215 . . ENSG00000122376 ENST00000298786;ENST00000298784;ENST00000358313 T;T;T 0.62105 0.05;0.05;0.05 4.26 -3.33 0.04958 . 1.405890 0.04709 N 0.417233 T 0.38480 0.1042 N 0.14661 0.345 0.25539 N 0.987192 B 0.09022 0.002 B 0.08055 0.003 T 0.13098 -1.0522 10 0.35671 T 0.21 -0.6937 2.3797 0.04351 0.5404:0.1118:0.2298:0.1179 . 573 Q86V20 FA35A_HUMAN L 573 ENSP00000298786:P573L;ENSP00000298784:P573L;ENSP00000351064:P573L ENSP00000298784:P573L P + 2 0 FAM35A 88920299 0.000000 0.05858 0.326000 0.25389 0.352000 0.29268 -1.271000 0.02828 -0.356000 0.08187 -1.268000 0.01426 CCG TCGA-IB-AAUP-01A-11D-A377-08 FAM35A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000049196.2 0 0 0 12 560 0 127 1 4.034835e-01 3 59 0 127 2 0 0 0 0 0 2 1 0.998976 12 545 0 127 2 0 0 0 0 127 2 -2.413725 0 1 121412 4 37 1 1 2 3 2.002328 0 0.150000 2.100000 0.156955 0.290000 0.150000 1.000000 0.280000 0.363687 0.290000 0 0.210000 0.430000 DSCAML1 57453 broad.mit.edu 37 11 117651364 117651364 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr11:117651364C>T ENST00000321322.6 - 2 389 c.388G>A c.(388-390)Gtg>Atg p.V130M DSCAML1_ENST00000527706.1_Intron NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) ATGTGCGGCACGTCGTAGATG 0.652000 0 SO:0001583 missense ENST00000321322.6 0 1 hg19 CCDS8384.1 . . . . . . . . . . C 25.2 4.613460 0.87359 . . ENSG00000177103 ENST00000321322 T 0.62105 0.05 5.1 5.1 0.69264 Immunoglobulin-like (1);Immunoglobulin-like fold (1); . . . . T 0.78761 0.4334 M 0.65677 2.01 0.58432 D 0.99999 D 0.89917 1.0 D 0.91635 0.999 T 0.80674 -0.1277 9 0.72032 D 0.01 . 18.9124 0.92491 0.0:1.0:0.0:0.0 . 70 Q8TD84 DSCL1_HUMAN M 130 ENSP00000315465:V130M ENSP00000315465:V130M V - 1 0 DSCAML1 117156574 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 5.880000 0.69698 2.536000 0.85505 0.563000 0.77884 GTG TCGA-IB-AAUP-01A-11D-A377-08 DSCAML1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000392907.2 0 0 0 15 551 0 123 0 0 0 1 0 123 2 0 0 0 0 0 2 1 0.999863 15 545 0 123 2 0 0 0 0 123 2 -12.886290 1 1 0 0 1 0 1 1 1.979190 0 0.150000 2.100000 0.144869 0.350000 0.200000 0.550000 0.350000 0.369447 0.350000 0 0.270000 0.460000 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 C T C C Valid Somatic Phase_I WXS KRAS_deep Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr12:25398284C>T ENST00000256078.4 - 2 98 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D NM_033360.2 NP_203524.1 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 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) 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) Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) Dom yes 12 12p12.1 3845 v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog L, E, M, O 15813 Substitution - Missense(15812)|Deletion - Frameshift(1) SO:0001583 missense Familial Cancer Database Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS ENST00000256078.4 1 1 hg19 CCDS8703.1 . . . . . . . . . . C 23.4 4.409094 0.83340 . . ENSG00000133703 ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131 T;T;T;T 0.78595 -1.19;-1.19;-1.19;-1.19 5.68 5.68 0.88126 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.85919 0.5809 M 0.91818 3.245 0.80722 D 1 B;P 0.35714 0.385;0.517 B;B 0.41619 0.257;0.361 D 0.87870 0.2670 10 0.87932 D 0 . 18.3719 0.90409 0.0:1.0:0.0:0.0 . 12;12 P01116-2;P01116 .;RASK_HUMAN D 12 ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D ENSP00000256078:G12D G - 2 0 KRAS 25289551 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.743000 0.85020 2.668000 0.90789 0.563000 0.77884 GGT TCGA-IB-AAUP-01A-11D-A377-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 0 0 0 13 326 0 70 1 1.700908e-01 4 14 0 70 2 1 9.999231e-01 25 409 0 284 2 1 0.999522 13 322 0 68 2 1 1 695 7323 0 70 2 -4.150761 1 1 121404 2 44 1 1 2 3 2.017654 0 0.150000 2.100000 0.160701 0.550000 0.300000 1.000000 0.520000 0.605844 0.550000 0 0.410000 0.840000 CNTN1 1272 broad.mit.edu 37 12 41419082 41419082 + Missense_Mutation SNP A A G TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr12:41419082A>G ENST00000551295.2 + 21 2771 c.2654A>G c.(2653-2655)aAt>aGt p.N885S CNTN1_ENST00000347616.1_Missense_Mutation_p.N885S|CNTN1_ENST00000348761.2_Missense_Mutation_p.N874S|CNTN1_ENST00000550305.1_3'UTR NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) GGGGCCTGCAATAGTGCAGGG 0.483000 0 SO:0001583 missense ENST00000551295.2 1 1 hg19 CCDS8737.1 . . . . . . . . . . A 24.2 4.499418 0.85069 . . ENSG00000018236 ENST00000551295;ENST00000347616;ENST00000348761 T;T;T 0.61392 0.11;0.11;0.11 4.88 4.88 0.63580 Fibronectin, type III (4);Immunoglobulin-like fold (1); 0.000000 0.85682 D 0.000000 T 0.77618 0.4157 M 0.83603 2.65 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.85130 0.995;0.997 T 0.81844 -0.0746 10 0.87932 D 0 . 15.2111 0.73225 1.0:0.0:0.0:0.0 . 874;885 Q12860-2;Q12860 .;CNTN1_HUMAN S 885;885;874 ENSP00000447006:N885S;ENSP00000325660:N885S;ENSP00000261160:N874S ENSP00000325660:N885S N + 2 0 CNTN1 39705349 1.000000 0.71417 1.000000 0.80357 0.931000 0.56810 8.581000 0.90788 2.127000 0.65507 0.533000 0.62120 AAT TCGA-IB-AAUP-01A-11D-A377-08 CNTN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000403692.2 1 0 0 67 955 0 230 0 5.588657e-01 0 28 0 230 2 0 0 0 0 0 2 1 1.000000 66 941 0 228 2 0 0 0 0 230 2 -20.000000 1 1 121412 1 36 1 1 2 3 2.017654 0 0.150000 2.100000 0.160701 0.900000 0.690000 1.000000 1.000000 0.898520 0.900000 1 0.790000 1.000000 F7 2155 broad.mit.edu 37 13 113772782 113772782 + Silent SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr13:113772782G>A ENST00000375581.3 + 9 896 c.861G>A c.(859-861)caG>caA p.Q287Q F7_ENST00000541084.1_Silent_p.Q218Q|F7_ENST00000346342.3_Silent_p.Q265Q NM_000131.4 NP_000122.1 P08709 FA7_HUMAN coagulation factor VII (serum prothrombin conversion accelerator) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) GGGTGGCGCAGGTCATCATCC 0.682000 0 SO:0001819 synonymous_variant ENST00000375581.3 1 1 hg19 CCDS9528.1 TCGA-IB-AAUP-01A-11D-A377-08 F7-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000045838.4 1 0 0 25 259 0 36 0 0 0 0 36 2 0 0 0 0 0 2 1 1.000000 25 247 0 35 2 0 0 0 0 36 2 -20.000000 1 1 0 0 1 1 2 3 2.073259 0 0.150000 2.100000 0.171742 0.990000 0.820000 1.000000 1.000000 0.987128 0.990000 1 0.990000 1.000000 CSNK1A1L 122011 broad.mit.edu 37 13 37678736 37678736 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr13:37678736G>A ENST00000379800.3 - 1 1067 c.658C>T c.(658-660)Ccg>Tcg p.P220S NM_145203.5 NP_660204.2 Q8N752 KC1AL_HUMAN casein kinase 1, alpha 1-like 37 Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109) CCTTGCCACGGCAGGCTGGTT 0.418000 0 SO:0001583 missense ENST00000379800.3 0 1 hg19 CCDS9363.1 . . . . . . . . . . G 12.16 1.854424 0.32791 . . ENSG00000180138 ENST00000379800 T 0.34859 1.34 1.08 1.08 0.20341 Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.000000 0.85682 D 0.000000 T 0.55401 0.1918 H 0.99042 4.41 0.39701 D 0.971184 P 0.36222 0.544 B 0.38985 0.287 T 0.66089 -0.6010 10 0.87932 D 0 . 7.9927 0.30250 0.0:0.0:1.0:0.0 . 220 Q8N752 KC1AL_HUMAN S 220 ENSP00000369126:P220S ENSP00000369126:P220S P - 1 0 CSNK1A1L 36576736 1.000000 0.71417 0.996000 0.52242 0.942000 0.58702 2.916000 0.48813 0.871000 0.35750 0.561000 0.74099 CCG TCGA-IB-AAUP-01A-11D-A377-08 CSNK1A1L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044563.1 0 0 0 5 469 1 171 0 0 0 1 171 2 0 0 0 0 0 2 0 0.097821 5 463 1 170 11 0 0 0 1 171 2 -2.633292 1 1 0 0 1 1 2 3 2.073259 0 0.150000 2.100000 0.171742 0.180000 0.050000 1.000000 0.140000 0.352981 0.180000 0 0.100000 1.000000 FREM2 341640 broad.mit.edu 37 13 39262608 39262608 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr13:39262608G>A ENST00000280481.7 + 1 1343 c.1127G>A c.(1126-1128)cGc>cAc p.R376H NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) ACCGATGATCGCAGCCTGCCC 0.572000 0 SO:0001583 missense ENST00000280481.7 1 1 hg19 CCDS31960.1 . . . . . . . . . . G 17.46 3.394821 0.62066 . . ENSG00000150893 ENST00000280481 T 0.17370 2.28 5.94 5.94 0.96194 . 0.000000 0.85682 D 0.000000 T 0.25158 0.0611 N 0.21583 0.68 0.58432 D 0.999997 D 0.89917 1.0 P 0.60789 0.879 T 0.01004 -1.1484 10 0.28530 T 0.3 . 16.5915 0.84766 0.0:0.13:0.87:0.0 . 376 Q5SZK8 FREM2_HUMAN H 376 ENSP00000280481:R376H ENSP00000280481:R376H R + 2 0 FREM2 38160608 0.149000 0.22717 0.998000 0.56505 0.996000 0.88848 1.935000 0.40173 2.826000 0.97356 0.561000 0.74099 CGC TCGA-IB-AAUP-01A-11D-A377-08 FREM2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044599.2 1 0 0 19 379 0 82 0 0 0 0 82 2 0 0 0 0 0 2 1 0.999991 18 376 0 81 2 0 0 0 0 82 2 -2.961105 1 1 121412 6 38 1 1 2 3 2.073259 0 0.150000 2.100000 0.171742 0.710000 0.420000 1.000000 0.640000 0.745860 0.710000 0 0.540000 1.000000 AKAP11 11215 broad.mit.edu 37 13 42876975 42876975 + Missense_Mutation SNP G G C TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr13:42876975G>C ENST00000025301.2 + 8 4268 c.4093G>C c.(4093-4095)Gat>Cat p.D1365H NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) GTTGATAATGGATCAGTATGC 0.413000 0 SO:0001583 missense ENST00000025301.2 0 1 hg19 CCDS9383.1 . . . . . . . . . . G 17.58 3.424553 0.62733 . . ENSG00000023516 ENST00000025301 T 0.59906 0.23 6.16 5.31 0.75309 . 0.000000 0.85682 D 0.000000 T 0.60560 0.2278 M 0.68952 2.095 0.53688 D 0.999979 P 0.36990 0.577 B 0.37508 0.252 T 0.65590 -0.6131 10 0.87932 D 0 . 17.5986 0.88020 0.0:0.1234:0.8766:0.0 . 1365 Q9UKA4 AKA11_HUMAN H 1365 ENSP00000025301:D1365H ENSP00000025301:D1365H D + 1 0 AKAP11 41774975 1.000000 0.71417 1.000000 0.80357 0.904000 0.53231 9.096000 0.94182 1.605000 0.50152 -0.181000 0.13052 GAT TCGA-IB-AAUP-01A-11D-A377-08 AKAP11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044700.2 0 0 0 10 304 0 87 0 2.293523e-01 1 25 0 87 2 0 0 0 0 0 2 1 0.996640 10 298 0 85 2 0 0 0 0 87 2 -10.754260 1 1 0 0 1 1 2 3 2.073259 0 0.150000 2.100000 0.171742 0.500000 0.240000 1.000000 0.430000 0.585665 0.500000 0 0.340000 1.000000 SLITRK5 26050 broad.mit.edu 37 13 88328647 88328647 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr13:88328647G>A ENST00000325089.6 + 2 1223 c.1004G>A c.(1003-1005)cGc>cAc p.R335H SLITRK5_ENST00000400028.3_Missense_Mutation_p.R94H NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) AAGGGGACTCGCCAACCCAAC 0.582000 0 SO:0001583 missense ENST00000325089.6 0 1 hg19 CCDS9465.1 . . . . . . . . . . G 20.9 4.073303 0.76415 . . ENSG00000165300 ENST00000325089;ENST00000400028 T;T 0.59906 0.23;0.49 5.85 5.85 0.93711 . 0.000000 0.85682 D 0.000000 T 0.70954 0.3283 L 0.51422 1.61 0.80722 D 1 D;D 0.89917 1.0;0.999 D;D 0.71656 0.974;0.962 T 0.67511 -0.5652 9 . . . -18.5332 17.6713 0.88218 0.0:0.0:1.0:0.0 . 94;335 B4DSH5;O94991 .;SLIK5_HUMAN H 335;94 ENSP00000366283:R335H;ENSP00000442244:R94H . R + 2 0 SLITRK5 87126648 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 9.832000 0.99423 2.771000 0.95319 0.561000 0.74099 CGC TCGA-IB-AAUP-01A-11D-A377-08 SLITRK5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045416.3 0 0 0 6 441 0 80 0 2.747091e-04 0 2 0 80 2 0 0 0 0 0 2 1 0.963977 6 436 0 80 2 0 0 0 0 80 2 -2.315569 0 1 0 0 1 1 2 3 2.073259 0 0.150000 2.100000 0.171742 0.220000 0.080000 1.000000 0.190000 0.384425 0.220000 0 0.130000 1.000000 SLC35F4 341880 broad.mit.edu 37 14 58063541 58063541 + Silent SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr14:58063541G>A ENST00000339762.6 - 1 74 c.75C>T c.(73-75)tgC>tgT p.C25C SLC35F4_ENST00000556826.1_Intron|SLC35F4_ENST00000554729.1_5'UTR|SLC35F4_ENST00000557430.1_Intron A4IF30 S35F4_HUMAN solute carrier family 35, member F4 24 GTGATATACCGCAAAGCCCAT 0.418000 0 SO:0001819 synonymous_variant ENST00000339762.6 0 1 hg19 TCGA-IB-AAUP-01A-11D-A377-08 SLC35F4-201 KNOWN basic protein_coding protein_coding 0 0 0 5 173 0 41 0 0 0 0 41 2 0 0 0 0 0 2 1 0.936573 5 171 0 41 2 0 0 0 0 41 2 -2.899738 1 1 120968 1 30 1 1 2 3 2.011548 0 0.150000 2.100000 0.171136 0.470000 0.160000 1.000000 0.380000 0.563542 0.470000 0 0.280000 1.000000 HERC2 8924 broad.mit.edu 37 15 28391388 28391388 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr15:28391388C>T ENST00000261609.7 - 71 11111 c.11003G>A c.(11002-11004)cGg>cAg p.R3668Q NM_004667.5 NP_004658.3 HECT and RLD domain containing E3 ubiquitin protein ligase 2 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) CTTACCTGACCGCACGGAGAC 0.557000 0 SO:0001583 missense ENST00000261609.7 1 1 hg19 CCDS10021.1 . . . . . . . . . . C 36 5.958751 0.97145 . . ENSG00000128731 ENST00000261609 T 0.39229 1.09 5.48 5.48 0.80851 . 0.000000 0.85682 D 0.000000 T 0.65606 0.2707 M 0.73962 2.25 0.80722 D 1 D 0.89917 1.0 D 0.66497 0.944 T 0.68172 -0.5479 10 0.66056 D 0.02 . 19.4151 0.94690 0.0:1.0:0.0:0.0 . 3668 O95714 HERC2_HUMAN Q 3668 ENSP00000261609:R3668Q ENSP00000261609:R3668Q R - 2 0 HERC2 26064983 1.000000 0.71417 1.000000 0.80357 0.950000 0.60333 7.818000 0.86416 2.601000 0.87937 0.644000 0.83932 CGG TCGA-IB-AAUP-01A-11D-A377-08 HERC2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251358.2 0 0 0 9 227 0 32 0 3.399735e-01 1 28 0 32 2 0 0 0 0 0 2 1 0.994027 9 223 0 32 2 0 0 0 0 32 2 -2.859748 1 1 0 0 1 0 0 0 1.912962 0 0.150000 2.100000 0.114122 0.490000 0.240000 0.840000 0.470000 0.519463 0.490000 0 0.350000 0.670000 RYR3 6263 broad.mit.edu 37 15 33858937 33858937 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr15:33858937G>A ENST00000389232.4 + 12 1275 c.1205G>A c.(1204-1206)cGt>cAt p.R402H RYR3_ENST00000415757.3_Missense_Mutation_p.R402H NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 311 all_lung(180;7.18e-09) AGATGCCAGCGTGAGGAGTCC 0.507000 0 SO:0001583 missense ENST00000389232.4 1 1 hg19 CCDS45210.1 . . . . . . . . . . G 7.760 0.705268 0.15172 . . ENSG00000198838 ENST00000389232;ENST00000415757;ENST00000361728 D;D 0.96554 -4.05;-4.05 4.58 -3.34 0.04943 . 0.429405 0.25050 N 0.033529 D 0.84547 0.5496 N 0.02286 -0.61 0.09310 N 1 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.77117 -0.2706 10 0.34782 T 0.22 . 6.8124 0.23812 0.5544:0.0:0.3254:0.1202 . 402;402 Q15413-2;Q15413 .;RYR3_HUMAN H 402 ENSP00000373884:R402H;ENSP00000399610:R402H ENSP00000354735:R402H R + 2 0 RYR3 31646229 0.042000 0.20092 0.048000 0.18961 0.734000 0.41952 0.520000 0.22878 -0.521000 0.06426 -0.133000 0.14855 CGT TCGA-IB-AAUP-01A-11D-A377-08 RYR3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000417514.1 0 0 0 15 428 0 96 0 0 0 0 96 2 0 0 0 0 0 2 1 0.999858 15 421 0 96 2 0 0 0 0 96 2 -3.500932 1 1 121128 2 40 1 0 0 0 1.912962 0 0.150000 2.100000 0.114122 0.430000 0.250000 0.670000 0.420000 0.451941 0.430000 0 0.330000 0.560000 CBLN1 869 broad.mit.edu 37 16 49315201 49315201 + Missense_Mutation SNP C C A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr16:49315201C>A ENST00000219197.6 - 1 541 c.176G>T c.(175-177)aGc>aTc p.S59I CBLN1_ENST00000536749.1_Missense_Mutation_p.S59I NM_004352.3 NP_004343.1 P23435 CBLN1_HUMAN cerebellin 1 precursor 9 all_cancers(37;0.0766)|all_lung(18;0.24) CACCTTGGCGCTGCCAGAGCG 0.617000 0 SO:0001583 missense ENST00000219197.6 1 1 hg19 CCDS10736.1 . . . . . . . . . . C 15.55 2.867934 0.51588 . . ENSG00000102924 ENST00000219197;ENST00000536749 D;D 0.82711 -1.64;-1.64 3.88 3.88 0.44766 Complement C1q protein (2); 0.044975 0.85682 D 0.000000 T 0.78585 0.4306 L 0.39147 1.195 0.53005 D 0.999969 P 0.43973 0.823 B 0.42062 0.374 T 0.81931 -0.0707 10 0.56958 D 0.05 -20.1966 15.6102 0.76710 0.0:1.0:0.0:0.0 . 59 P23435 CBLN1_HUMAN I 59 ENSP00000219197:S59I;ENSP00000444651:S59I ENSP00000219197:S59I S - 2 0 CBLN1 47872702 0.998000 0.40836 1.000000 0.80357 0.994000 0.84299 0.991000 0.29654 1.994000 0.58287 0.462000 0.41574 AGC TCGA-IB-AAUP-01A-11D-A377-08 CBLN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256845.4 1 0 0 16 205 0 37 0 7.315678e-02 0 6 0 37 2 0 0 0 0 0 2 1 0.999926 15 199 0 37 2 0 0 0 0 37 2 -19.885630 1 1 0 0 1 1 2 3 2.048254 0 0.150000 2.100000 0.166871 0.990000 0.610000 1.000000 1.000000 0.929970 0.990000 1 0.800000 1.000000 SLC6A2 6530 broad.mit.edu 37 16 55690874 55690874 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr16:55690874G>A ENST00000379906.2 + 1 523 c.268G>A c.(268-270)Ggc>Agc p.G90S SLC6A2_ENST00000414754.3_Missense_Mutation_p.G90S|SLC6A2_ENST00000219833.8_Missense_Mutation_p.G90S|SLC6A2_ENST00000568943.1_Missense_Mutation_p.G90S|SLC6A2_ENST00000561820.1_Missense_Mutation_p.G90S|SLC6A2_ENST00000566163.1_Missense_Mutation_p.G90S NM_001043.3 NP_001034.1 P23975 SC6A2_HUMAN solute carrier family 6 (neurotransmitter transporter), member 2 41 Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285) CTACAAGAACGGCGGCGGTGA 0.622000 0 SO:0001583 missense ENST00000379906.2 1 1 hg19 CCDS10754.1 . . . . . . . . . . G 19.72 3.879435 0.72294 . . ENSG00000103546 ENST00000414754;ENST00000379906;ENST00000219833 D;D;D 0.87491 -2.26;-2.26;-2.26 5.27 5.27 0.74061 . 0.000000 0.85682 D 0.000000 D 0.96775 0.8947 H 0.99169 4.455 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 D 0.98465 1.0598 10 0.87932 D 0 . 19.2658 0.93984 0.0:0.0:1.0:0.0 . 90;90 Q96KH8;P23975 .;SC6A2_HUMAN S 90 ENSP00000394956:G90S;ENSP00000369237:G90S;ENSP00000219833:G90S ENSP00000219833:G90S G + 1 0 SLC6A2 54248375 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 9.728000 0.98792 2.620000 0.88729 0.563000 0.77884 GGC TCGA-IB-AAUP-01A-11D-A377-08 SLC6A2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256922.2 0 0 0 19 483 0 98 0 0 0 0 98 2 0 0 0 0 0 2 1 0.999990 19 478 0 94 2 0 0 0 0 98 2 -3.090989 1 1 0 0 1 1 2 3 2.048254 0 0.150000 2.100000 0.166871 0.550000 0.330000 1.000000 0.520000 0.622459 0.550000 0 0.420000 1.000000 HERPUD1 9709 broad.mit.edu 37 16 56973916 56973916 + Nonsense_Mutation SNP G G T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 G T G G Valid Somatic Phase_I WXS RNA Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr16:56973916G>T ENST00000439977.2 + 6 861 c.664G>T c.(664-666)Gaa>Taa p.E222* RP11-325K4.2_ENST00000570210.1_RNA|HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000379792.2_Nonsense_Mutation_p.E197*|RP11-325K4.3_ENST00000565861.1_RNA|HERPUD1_ENST00000300302.5_Nonsense_Mutation_p.E221*|HERPUD1_ENST00000344114.4_Intron NM_001010989.1|NM_014685.2 NP_001010989.1|NP_055500.1 Q15011 HERP1_HUMAN homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 11 GTTTCCAGCTGAAAACCAGCC 0.507000 T ERG prostate Dom yes 16 16q12.2-q13 9709 homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 E 0 SO:0001587 stop_gained ENST00000439977.2 0 1 hg19 CCDS10771.1 . . . . . . . . . . G 19.11 3.763994 0.69878 . . ENSG00000051108 ENST00000439977;ENST00000379792;ENST00000300302 . . . 5.65 5.65 0.86999 . 0.211534 0.49916 D 0.000125 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.06891 T 0.86 -11.2101 8.4918 0.33104 0.0816:0.1675:0.7509:0.0 . . . . X 221;197;222 . ENSP00000300302:E222X E + 1 0 HERPUD1 55531417 0.998000 0.40836 0.992000 0.48379 0.992000 0.81027 2.676000 0.46883 2.668000 0.90789 0.655000 0.94253 GAA TCGA-IB-AAUP-01A-11D-A377-08 HERPUD1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000257056.5 0 0 0 6 221 0 73 1 9.996746e-01 8 689 0 73 2 0 0 0 0 0 2 1 0.962584 6 215 0 73 2 0 0 0 0 73 2 -7.404558 1 1 0 0 1 1 2 3 2.037184 0 0.150000 2.100000 0.164414 0.420000 0.160000 1.000000 0.360000 0.505694 0.420000 0 0.260000 1.000000 EFTUD2 9343 broad.mit.edu 37 17 42937897 42937897 + Missense_Mutation SNP A A G TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 A G A A Valid Somatic Phase_I WXS RNA Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr17:42937897A>G ENST00000426333.2 - 17 1919 c.1622T>C c.(1621-1623)gTg>gCg p.V541A EFTUD2_ENST00000591382.1_Missense_Mutation_p.V541A|EFTUD2_ENST00000402521.3_Missense_Mutation_p.V506A|EFTUD2_ENST00000592576.1_Missense_Mutation_p.V531A NM_001142605.1|NM_001258354.1|NM_004247.3 NP_001136077.1|NP_001245283.1|NP_004238.3 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain containing 2 32 Prostate(33;0.109) AACACGGTTCACCTCGATGTG 0.433000 Ovarian(10;65 485 10258 29980 30707) 0 SO:0001583 missense ENST00000426333.2 1 1 hg19 CCDS11489.1 . . . . . . . . . . A 19.36 3.813251 0.70912 . . ENSG00000108883 ENST00000426333;ENST00000262414;ENST00000402521 T;T 0.68903 -0.36;-0.36 5.34 5.34 0.76211 Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1); 0.000000 0.85682 D 0.000000 T 0.78604 0.4309 M 0.91354 3.2 0.80722 D 1 P;P 0.38535 0.635;0.635 P;P 0.44811 0.461;0.461 T 0.82112 -0.0618 10 0.51188 T 0.08 -18.7055 15.129 0.72507 1.0:0.0:0.0:0.0 . 531;541 B4DMC0;Q15029 .;U5S1_HUMAN A 541;531;506 ENSP00000392094:V541A;ENSP00000385873:V506A ENSP00000262414:V531A V - 2 0 EFTUD2 40293423 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 9.055000 0.93873 2.240000 0.73641 0.528000 0.53228 GTG TCGA-IB-AAUP-01A-11D-A377-08 EFTUD2-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000448672.1 1 0 1 35 374 0 90 1 9.998765e-01 30 115 0 90 2 0 0 0 0 0 2 1 1.000000 35 372 0 89 2 0 0 0 0 90 2 -10.951140 1 1 0 0 1 1 2 3 1.989555 1 0.150000 2.100000 0.197545 0.990000 0.870000 1.000000 1.000000 0.991819 0.990000 1 0.990000 1.000000 PITPNC1 26207 broad.mit.edu 37 17 65688807 65688807 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr17:65688807G>A ENST00000581322.1 + 9 802 c.802G>A c.(802-804)Gtc>Atc p.V268I PITPNC1_ENST00000299954.9_3'UTR|PITPNC1_ENST00000335257.6_Missense_Mutation_p.V268I|PITPNC1_ENST00000580974.1_3'UTR Q9UKF7 PITC1_HUMAN phosphatidylinositol transfer protein, cytoplasmic 1 p.V268I(2) 17 all_cancers(12;3.03e-10) BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198) GCCTTCTTCCGTCCGCAGTGC 0.557000 2 Substitution - Missense(2) SO:0001583 missense ENST00000581322.1 1 1 hg19 CCDS58588.1 . . . . . . . . . . G 8.254 0.809691 0.16537 . . ENSG00000154217 ENST00000335257 T 0.44083 0.93 5.75 3.59 0.41128 . 0.222920 0.47455 D 0.000223 T 0.16811 0.0404 N 0.03608 -0.345 0.80722 D 1 B 0.02656 0.0 B 0.01281 0.0 T 0.05257 -1.0896 10 0.34782 T 0.22 -1.2887 4.3035 0.10935 0.3704:0.0:0.6296:0.0 . 268 Q9UKF7 PITC1_HUMAN I 268 ENSP00000335618:V268I ENSP00000335618:V268I V + 1 0 PITPNC1 63119269 1.000000 0.71417 0.882000 0.34594 0.097000 0.18754 4.034000 0.57289 1.451000 0.47736 -0.136000 0.14681 GTC TCGA-IB-AAUP-01A-11D-A377-08 PITPNC1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000447194.1 0 0 0 17 495 0 108 1 9.139164e-01 6 119 0 108 2 0 0 0 0 0 2 1 0.999959 17 484 0 104 2 0 0 0 0 108 2 -3.089164 1 1 120950 7 43 1 1 2 3 1.989555 1 0.150000 2.100000 0.197545 0.500000 0.290000 1.000000 0.470000 0.570918 0.500000 0 0.380000 0.860000 RNF213 57674 broad.mit.edu 37 17 78351573 78351573 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 G A G G Valid Somatic Phase_I WXS targeted Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr17:78351573G>A ENST00000582970.1 + 54 13665 c.13522G>A c.(13522-13524)Ggc>Agc p.G4508S CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.G4557S|RNF213_ENST00000336301.6_Missense_Mutation_p.G2581S|CTD-2047H16.4_ENST00000572151.1_RNA NM_001256071.1 NP_001243000.1 Q63HN8 RN213_HUMAN ring finger protein 213 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TTGTCCCAACGGCCATCCTTG 0.532000 0 SO:0001583 missense ENST00000582970.1 1 1 hg19 CCDS58606.1 . . . . . . . . . . G 32 5.113576 0.94339 . . ENSG00000173821 ENST00000508628;ENST00000411702;ENST00000336301 T 0.55413 0.52 5.41 5.41 0.78517 . 0.000000 0.85682 D 0.000000 T 0.73281 0.3567 M 0.75777 2.31 0.44587 D 0.997552 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;0.987 T 0.76154 -0.3063 10 0.72032 D 0.01 . 17.3883 0.87423 0.0:0.0:1.0:0.0 . 4557;2581 C9JCP4;Q63HN8 .;RN213_HUMAN S 4508;4557;2581 ENSP00000338218:G2581S ENSP00000338218:G2581S G + 1 0 RNF213 75966168 0.997000 0.39634 0.349000 0.25694 0.985000 0.73830 5.094000 0.64523 2.529000 0.85273 0.655000 0.94253 GGC TCGA-IB-AAUP-01A-11D-A377-08 RNF213-020 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000443298.1 1 0 0 45 621 0 123 1 9.995478e-01 28 129 0 123 2 1 1 39 672 0 601 2 1 1.000000 45 616 0 123 2 0 0 0 0 123 2 -3.221882 1 1 121412 1 36 1 0 0 0 1.901542 0 0.150000 2.100000 0.108547 0.850000 0.630000 1.000000 1.000000 0.855120 0.850000 1 0.730000 0.980000 GALNT1 2589 broad.mit.edu 37 18 33243666 33243666 + Missense_Mutation SNP C C G TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr18:33243666C>G ENST00000269195.5 + 2 317 c.214C>G c.(214-216)Caa>Gaa p.Q72E GALNT1_ENST00000591081.1_Missense_Mutation_p.Q72E|GALNT1_ENST00000537549.1_Missense_Mutation_p.Q12E NM_020474.3 NP_065207.2 Q10472 GALT1_HUMAN polypeptide N-acetylgalactosaminyltransferase 1 21 TAAAGAGGATCAAGAAAAGAT 0.373000 0 SO:0001583 missense ENST00000269195.5 1 1 hg19 CCDS11915.1 . . . . . . . . . . C 14.62 2.589022 0.46110 . . ENSG00000141429 ENST00000537748;ENST00000269195;ENST00000537549 T;T 0.54279 0.62;0.58 5.11 5.11 0.69529 . 0.000000 0.85682 D 0.000000 T 0.43122 0.1233 L 0.35854 1.095 0.80722 D 1 B 0.02656 0.0 B 0.04013 0.001 T 0.26395 -1.0104 10 0.19147 T 0.46 . 16.026 0.80545 0.0:1.0:0.0:0.0 . 72 Q10472 GALT1_HUMAN E 72;72;12 ENSP00000269195:Q72E;ENSP00000440910:Q12E ENSP00000269195:Q72E Q + 1 0 GALNT1 31497664 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 7.818000 0.86416 2.399000 0.81585 0.655000 0.94253 CAA TCGA-IB-AAUP-01A-11D-A377-08 GALNT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255771.2 0 0 0 7 240 0 72 1 6.186573e-01 3 66 0 72 2 0 0 0 0 0 2 1 0.980473 7 238 0 72 2 0 0 0 0 72 2 -3.347942 1 1 0 0 1 0 0 0 1.877492 1 0.150000 2.100000 0.097185 0.360000 0.160000 0.660000 0.340000 0.388190 0.360000 0 0.250000 0.510000 NCAN 1463 broad.mit.edu 37 19 19330065 19330065 + Missense_Mutation SNP C C T rs149283619 TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr19:19330065C>T ENST00000252575.6 + 3 514 c.415C>T c.(415-417)Cgc>Tgc p.R139C NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 64 Epithelial(12;0.00544) Hyaluronan(DB08818) TGGGCTGTACCGCTGCCAGGT 0.677000 0 SO:0001583 missense ENST00000252575.6 0 1 hg19 CCDS12397.1 . . . . . . . . . . C 22.0 4.226025 0.79576 . . ENSG00000130287 ENST00000539499;ENST00000252575 T 0.65916 -0.18 4.59 4.59 0.56863 Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.000000 0.40640 N 0.001055 T 0.81772 0.4893 M 0.88775 2.98 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 D 0.85912 0.1441 10 0.87932 D 0 . 14.9149 0.70789 0.0:1.0:0.0:0.0 . 139 O14594 NCAN_HUMAN C 153;139 ENSP00000252575:R139C ENSP00000252575:R139C R + 1 0 NCAN 19191065 1.000000 0.71417 0.990000 0.47175 0.763000 0.43281 4.576000 0.60915 2.113000 0.64589 0.491000 0.48974 CGC TCGA-IB-AAUP-01A-11D-A377-08 NCAN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000460111.2 1 0 0 4 62 0 19 0 0 0 0 19 2 0 0 0 0 0 2 1 0.885132 4 60 0 17 2 0 0 0 0 19 2 -8.274500 1 0 121308 2 30 1 0 0 0 1.970823 0 0.150000 2.100000 0.139676 0.820000 0.290000 1.000000 1.000000 0.778932 0.820000 0 0.510000 1.000000 ZFP82 284406 broad.mit.edu 37 19 36884959 36884959 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr19:36884959C>T ENST00000392161.3 - 5 525 c.283G>A c.(283-285)Gaa>Aaa p.E95K ZFP82_ENST00000392171.1_Missense_Mutation_p.E95K NM_133466.2 NP_597723.1 Q8N141 ZFP82_HUMAN ZFP82 zinc finger protein 25 AAATTTATTTCATAAATGTCA 0.303000 0 SO:0001583 missense ENST00000392161.3 0 1 hg19 CCDS12493.1 . . . . . . . . . . C 11.74 1.728610 0.30593 . . ENSG00000181007 ENST00000392161;ENST00000392171 T;T 0.07908 3.25;3.15 4.4 1.97 0.26223 . 0.193575 0.25397 N 0.030976 T 0.06554 0.0168 N 0.25992 0.78 0.25084 N 0.99091 P 0.38788 0.647 B 0.40982 0.345 T 0.23833 -1.0177 10 0.51188 T 0.08 . 6.6527 0.22971 0.0:0.6709:0.0:0.329 . 95 Q8N141 ZFP82_HUMAN K 95 ENSP00000431265:E95K;ENSP00000446080:E95K ENSP00000431265:E95K E - 1 0 ZFP82 41576799 0.005000 0.15991 0.999000 0.59377 0.924000 0.55760 -0.052000 0.11865 0.477000 0.27464 0.650000 0.86243 GAA TCGA-IB-AAUP-01A-11D-A377-08 ZFP82-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000109552.2 0 0 0 6 535 0 124 0 1.827409e-03 0 5 0 124 2 0 0 0 0 0 2 1 0.964539 6 532 0 124 2 0 0 0 0 124 2 -5.183528 1 1 0 0 1 0 9 9 2.621824 1 0.150000 2.100000 0.353612 0.240000 0.080000 1.000000 0.190000 0.405357 0.240000 0 0.140000 1.000000 RYR1 6261 broad.mit.edu 37 19 38989876 38989876 + Silent SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr19:38989876C>T ENST00000359596.3 + 43 7020 c.7020C>T c.(7018-7020)ttC>ttT p.F2340F RYR1_ENST00000360985.3_Silent_p.F2340F|RYR1_ENST00000355481.4_Silent_p.F2340F P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786) TTGCTGTCTTCGTCAACGGTG 0.602000 0 SO:0001819 synonymous_variant ENST00000359596.3 1 1 hg19 CCDS33011.1 TCGA-IB-AAUP-01A-11D-A377-08 RYR1-010 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000462137.1 0 0 0 12 433 0 47 0 0 0 0 47 2 0 0 0 0 0 2 1 0.999053 12 426 0 46 2 0 0 0 0 47 2 -3.221883 1 1 121412 57 49 1 0 9 9 2.621824 1 0.150000 2.100000 0.353612 0.540000 0.270000 1.000000 0.490000 0.622110 0.540000 0 0.380000 1.000000 ZNF526 116115 broad.mit.edu 37 19 42730124 42730124 + Silent SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr19:42730124G>A ENST00000301215.3 + 3 1794 c.1569G>A c.(1567-1569)acG>acA p.T523T NM_133444.1 NP_597701.1 Q8TF50 ZN526_HUMAN zinc finger protein 526 22 Prostate(69;0.0704) TGACCCATACGGGTGCACGTC 0.617000 0 SO:0001819 synonymous_variant ENST00000301215.3 1 1 hg19 CCDS12598.1 TCGA-IB-AAUP-01A-11D-A377-08 ZNF526-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000463681.2 1 0 0 25 232 0 57 1 5.444555e-01 3 15 0 57 2 0 0 0 0 0 2 1 1.000000 25 229 0 56 2 0 0 0 0 57 2 -2.341072 0 1 0 0 1 0 0 0 1.903512 0 0.150000 2.100000 0.109948 0.990000 0.800000 1.000000 1.000000 0.981628 0.990000 1 0.970000 1.000000 CLEC4M 10332 broad.mit.edu 37 19 7832511 7832511 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr19:7832511C>T ENST00000327325.5 + 6 1164 c.1046C>T c.(1045-1047)cCc>cTc p.P349L CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000248228.4_Missense_Mutation_p.P327L|CLEC4M_ENST00000595496.1_Missense_Mutation_p.P213L|CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000596707.1_Missense_Mutation_p.P282L|CLEC4M_ENST00000357361.2_Intron|CLEC4M_ENST00000359059.5_Missense_Mutation_p.P282L|CLEC4M_ENST00000334806.5_Missense_Mutation_p.P298L|CLEC4M_ENST00000394122.2_Missense_Mutation_p.P337L NM_001144909.1|NM_014257.4 NP_001138381.1|NP_055072.3 Q9H2X3 CLC4M_HUMAN C-type lectin domain family 4, member M 26 CCTCTGTCACCCAGGTAGATT 0.577000 0 SO:0001583 missense ENST00000327325.5 0 1 hg19 CCDS12187.1 . . . . . . . . . . C 1.249 -0.619258 0.03663 . . ENSG00000104938 ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059 T;T;T;T;T 0.16196 2.36;2.36;2.36;2.36;2.36 2.23 -1.48 0.08745 C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3); . . . . T 0.11922 0.0290 N 0.11892 0.195 0.21527 N 0.999659 B;B;P;B;B;B 0.51057 0.032;0.33;0.941;0.074;0.006;0.029 B;B;P;B;B;B 0.51266 0.021;0.133;0.664;0.185;0.002;0.016 T 0.20806 -1.0264 9 0.40728 T 0.16 . 5.2004 0.15260 0.0:0.3984:0.0:0.6016 . 298;282;349;337;326;213 B4E2Z5;Q9H2X3-5;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-7 .;.;CLC4M_HUMAN;.;.;. L 349;337;327;298;282 ENSP00000316228:P349L;ENSP00000377680:P337L;ENSP00000248228:P327L;ENSP00000335228:P298L;ENSP00000351954:P282L ENSP00000248228:P327L P + 2 0 CLEC4M 7738511 0.005000 0.15991 0.066000 0.19879 0.030000 0.12068 -0.702000 0.05069 -0.281000 0.09141 0.556000 0.70494 CCC TCGA-IB-AAUP-01A-11D-A377-08 CLEC4M-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000461161.1 0 0 0 6 266 0 43 0 1.021713e-02 0 6 0 43 2 0 0 0 0 0 2 1 0.964234 6 263 0 42 2 0 0 0 0 43 2 -3.559837 1 1 0 0 1 0 0 0 1.902604 0 0.150000 2.100000 0.108547 0.290000 0.120000 0.560000 0.280000 0.315022 0.290000 0 0.190000 0.420000 MUC16 94025 broad.mit.edu 37 19 9056276 9056276 + Silent SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr19:9056276C>T ENST00000397910.4 - 3 31373 c.31170G>A c.(31168-31170)agG>agA p.R10390R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 590 ATGAAGATGTCCTGCCTGGTT 0.488000 0 SO:0001819 synonymous_variant ENST00000397910.4 1 1 hg19 CCDS54212.1 TCGA-IB-AAUP-01A-11D-A377-08 MUC16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000402806.1 0 0 0 26 694 0 155 0 0 0 0 155 2 0 0 0 0 0 2 1 1.000000 26 683 0 153 2 0 0 0 0 155 2 -3.482625 1 1 0 0 1 0 0 0 1.902604 0 0.150000 2.100000 0.108547 0.450000 0.300000 0.640000 0.460000 0.470014 0.450000 0 0.370000 0.550000 LCE2B 26239 broad.mit.edu 37 1 152659492 152659492 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr1:152659492C>T ENST00000368780.3 + 2 227 c.173C>T c.(172-174)cCc>cTc p.P58L LCE2B_ENST00000417924.2_Missense_Mutation_p.P58L NM_014357.4 NP_055172.1 O14633 LCE2B_HUMAN late cornified envelope 2B 11 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGCTGTGGTCCCAGCTCTGGG 0.667000 0 SO:0001583 missense ENST00000368780.3 1 1 hg19 CCDS1020.1 . . . . . . . . . . C 0.706 -0.789106 0.02884 . . ENSG00000159455 ENST00000417924;ENST00000368780 T;T 0.03982 3.74;3.74 2.49 0.482 0.16815 . . . . . T 0.01189 0.0039 L 0.29908 0.895 0.26615 N 0.972753 B 0.06786 0.001 B 0.01281 0.0 T 0.46541 -0.9184 9 0.87932 D 0 . 4.5339 0.12019 0.0:0.6472:0.0:0.3528 . 58 O14633 LCE2B_HUMAN L 58 ENSP00000414043:P58L;ENSP00000357769:P58L ENSP00000357769:P58L P + 2 0 LCE2B 150926116 0.030000 0.19436 0.139000 0.22197 0.053000 0.15095 0.161000 0.16481 -0.140000 0.11394 0.313000 0.20887 CCC TCGA-IB-AAUP-01A-11D-A377-08 LCE2B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000034524.1 0 0 0 39 1074 0 186 0 0 0 0 186 2 0 0 0 0 0 2 1 1.000000 37 1060 0 185 2 0 0 0 0 186 2 -3.151703 1 1 0 0 1 0 1 1 1.980726 0 0.150000 2.100000 0.145514 0.460000 0.330000 0.620000 0.460000 0.473305 0.460000 0 0.390000 0.540000 BCAN 63827 broad.mit.edu 37 1 156626767 156626767 + Silent SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr1:156626767G>A ENST00000329117.5 + 10 2424 c.2088G>A c.(2086-2088)caG>caA p.Q696Q RP11-284F21.7_ENST00000448869.1_RNA NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ACGCCTTCCAGGGCGCCTGCT 0.657000 0 SO:0001819 synonymous_variant ENST00000329117.5 1 1 hg19 CCDS1149.1 TCGA-IB-AAUP-01A-11D-A377-08 BCAN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000081844.2 0 0 0 8 259 0 46 0 0 0 0 46 2 0 0 0 0 0 2 1 0.989009 7 256 0 46 2 0 0 0 0 46 2 -2.877779 1 1 0 0 1 0 1 1 1.980726 0 0.150000 2.100000 0.145514 0.410000 0.190000 0.720000 0.390000 0.433968 0.410000 0 0.280000 0.570000 ITLN1 55600 broad.mit.edu 37 1 160850421 160850421 + Silent SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr1:160850421G>A ENST00000326245.3 - 6 757 c.642C>T c.(640-642)ggC>ggT p.G214G ITLN1_ENST00000487531.1_5'UTR NM_017625.2 NP_060095.2 Q8WWA0 ITLN1_HUMAN intelectin 1 (galactofuranose binding) 21 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TCTGGGCGTCGCCAAAATCAT 0.443000 0 SO:0001819 synonymous_variant ENST00000326245.3 0 1 hg19 CCDS1211.1 TCGA-IB-AAUP-01A-11D-A377-08 ITLN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000071462.1 0 0 0 9 912 0 223 0 3.819416e-04 0 3 0 223 2 0 0 0 0 0 2 1 0.993902 8 903 0 221 2 0 0 0 0 223 2 -1.626438 0 1 121412 3 42 1 0 1 1 1.980726 0 0.150000 2.100000 0.145514 0.130000 0.060000 0.240000 0.130000 0.142783 0.130000 0 0.090000 0.190000 GPA33 10223 broad.mit.edu 37 1 167024256 167024256 + Nonsense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr1:167024256G>A ENST00000367868.3 - 6 1127 c.784C>T c.(784-786)Cga>Tga p.R262* RP11-102C16.3_ENST00000417644.1_RNA|GPA33_ENST00000527955.1_5'UTR NM_005814.1 NP_005805.1 Q99795 GPA33_HUMAN glycoprotein A33 (transmembrane) 15 TCCTTCCCTCGGCAGCAGCAG 0.562000 0 SO:0001587 stop_gained ENST00000367868.3 0 1 hg19 CCDS1258.1 . . . . . . . . . . G 36 5.857738 0.97030 . . ENSG00000143167 ENST00000367868 . . . 4.67 3.64 0.41730 . 0.451102 0.20825 N 0.084995 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.02654 T 1 . 10.7064 0.45958 0.0:0.0:0.7959:0.2041 . . . . X 262 . ENSP00000356842:R262X R - 1 2 GPA33 165290880 0.983000 0.35010 0.792000 0.32020 0.425000 0.31504 2.725000 0.47294 2.135000 0.66039 0.484000 0.47621 CGA TCGA-IB-AAUP-01A-11D-A377-08 GPA33-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000083245.1 0 0 0 13 292 0 61 0 8.981780e-02 0 11 0 61 2 0 0 0 0 0 2 1 0.999523 12 289 0 60 2 0 0 0 0 61 2 -2.816329 1 1 121412 4 38 1 0 1 1 1.980726 0 0.150000 2.100000 0.145514 0.570000 0.320000 0.900000 0.560000 0.592427 0.570000 0 0.430000 0.740000 PAPPA2 60676 broad.mit.edu 37 1 176640105 176640105 + Splice_Site SNP G G T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr1:176640105G>T ENST00000367662.3 + 4 3155 c.e4-1 PAPPA2_ENST00000367661.3_Splice_Site NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 226 ATGCTCTCTAGGGCATACATG 0.483000 0 SO:0001630 splice_region_variant ENST00000367662.3 1 1 hg19 CCDS41438.1 . . . . . . . . . . G 24.8 4.567297 0.86439 . . ENSG00000116183 ENST00000367662;ENST00000367661 . . . 5.4 5.4 0.78164 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 18.7796 0.91926 0.0:0.0:1.0:0.0 . . . . . -1 . . . + . . PAPPA2 174906728 1.000000 0.71417 1.000000 0.80357 0.926000 0.56050 9.613000 0.98350 2.509000 0.84616 0.655000 0.94253 . TCGA-IB-AAUP-01A-11D-A377-08 PAPPA2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000084763.1 0 0 0 20 805 1 176 0 0 0 1 176 2 0 0 0 0 0 2 1 0.735779 19 798 1 174 17 0 0 0 1 176 2 -1.878673 0 1 0 0 1 0 1 1 1.980726 0 0.150000 2.100000 0.145514 0.320000 0.200000 0.480000 0.320000 0.334401 0.320000 0 0.250000 0.400000 SMPDL3B 27293 broad.mit.edu 37 1 28261707 28261707 + Missense_Mutation SNP G G C TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr1:28261707G>C ENST00000373894.3 + 1 204 c.13G>C c.(13-15)Gcc>Ccc p.A5P SMPDL3B_ENST00000466793.1_3'UTR|SMPDL3B_ENST00000549094.1_Missense_Mutation_p.A5P|SMPDL3B_ENST00000373888.4_Missense_Mutation_p.A5P NM_014474.2 NP_055289.2 Q92485 ASM3B_HUMAN sphingomyelin phosphodiesterase, acid-like 3B 16 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) GAGGCTGCTCGCCTGGCTGAT 0.547000 0 SO:0001583 missense ENST00000373894.3 0 1 hg19 CCDS30655.1 . . . . . . . . . . G 12.82 2.051591 0.36181 . . ENSG00000130768 ENST00000373894;ENST00000373890;ENST00000411604;ENST00000373888;ENST00000549094;ENST00000412515 D;T;D;D 0.90004 -2.6;1.73;-2.6;-2.6 3.79 -6.63 0.01807 . 3.314520 0.01170 U 0.006848 T 0.80899 0.4712 L 0.39898 1.24 0.09310 N 1 B;B;B 0.06786 0.001;0.0;0.0 B;B;B 0.04013 0.001;0.001;0.001 T 0.63800 -0.6555 10 0.41790 T 0.15 1.2634 3.014 0.06053 0.2355:0.1489:0.4691:0.1465 . 5;5;5 F8VWW8;Q92485;Q92485-2 .;ASM3B_HUMAN;. P 5 ENSP00000363001:A5P;ENSP00000388092:A5P;ENSP00000362995:A5P;ENSP00000449450:A5P ENSP00000362995:A5P A + 1 0 SMPDL3B 28134294 0.000000 0.05858 0.001000 0.08648 0.213000 0.24496 -1.654000 0.01984 -1.170000 0.02769 -1.336000 0.01259 GCC TCGA-IB-AAUP-01A-11D-A377-08 SMPDL3B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000011170.1 1 0 0 8 161 0 18 1 3.392040e-01 4 19 0 18 2 0 0 0 0 0 2 1 0.989397 8 159 0 17 2 0 0 0 0 18 2 -10.741290 1 1 0 0 1 1 2 3 2.008329 0 0.150000 2.100000 0.158207 0.690000 0.320000 1.000000 1.000000 0.708248 0.690000 0 0.470000 1.000000 PUM1 9698 broad.mit.edu 37 1 31447601 31447601 + Missense_Mutation SNP A A C TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr1:31447601A>C ENST00000257075.5 - 10 1496 c.1403T>G c.(1402-1404)gTc>gGc p.V468G PUM1_ENST00000423018.2_Missense_Mutation_p.V372G|PUM1_ENST00000424085.2_Missense_Mutation_p.V226G|PUM1_ENST00000373747.3_Missense_Mutation_p.V469G|PUM1_ENST00000373741.4_Missense_Mutation_p.V504G|PUM1_ENST00000440538.2_Missense_Mutation_p.V469G|PUM1_ENST00000426105.2_Missense_Mutation_p.V468G|PUM1_ENST00000490546.1_5'UTR|PUM1_ENST00000373742.2_Missense_Mutation_p.V409G NM_014676.2 NP_055491.1 Q14671 PUM1_HUMAN pumilio RNA-binding family member 1 48 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) GGCAGGGTAGACTCCCCAGGG 0.512000 0 SO:0001583 missense ENST00000257075.5 0 1 hg19 CCDS338.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. A|A 24.2|24.2 4.506990|4.506990 0.85282|0.85282 .|. .|. ENSG00000134644|ENSG00000134644 ENST00000525843;ENST00000498419;ENST00000532678|ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000543952 .|T;T;T;T;T;T;T;T .|0.32753 .|1.73;1.44;1.74;1.73;1.69;1.7;1.6;1.56 6.16|6.16 6.16|6.16 0.99307|0.99307 .|. .|0.000000 .|0.85682 .|D .|0.000000 T|T 0.54319|0.54319 0.1851|0.1851 M|M 0.71036|0.71036 2.16|2.16 0.80722|0.80722 D|D 1|1 .|D;P;D;P;D;D;D;D .|0.89917 .|1.0;0.608;1.0;0.728;1.0;1.0;1.0;1.0 .|D;B;D;B;D;D;D;D .|0.83275 .|0.996;0.202;0.996;0.366;0.996;0.996;0.996;0.996 T|T 0.57642|0.57642 -0.7776|-0.7776 5|10 .|0.87932 .|D .|0 -9.606|-9.606 12.5418|12.5418 0.56174|0.56174 0.9342:0.0:0.0658:0.0|0.9342:0.0:0.0658:0.0 .|. .|409;372;504;469;468;468;469;468 .|B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5 .|.;.;.;.;PUM1_HUMAN;.;.;. R|G 485;179;155|226;468;469;206;468;469;504;372;409;468 .|ENSP00000400141:V226G;ENSP00000257075:V468G;ENSP00000362852:V469G;ENSP00000391723:V468G;ENSP00000401777:V469G;ENSP00000362846:V504G;ENSP00000399440:V372G;ENSP00000362847:V409G .|ENSP00000257075:V468G S|V -|- 3|2 2|0 PUM1|PUM1 31220188|31220188 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.999000|0.999000 0.98932|0.98932 7.442000|7.442000 0.80503|0.80503 2.367000|2.367000 0.80283|0.80283 0.528000|0.528000 0.53228|0.53228 AGT|GTC TCGA-IB-AAUP-01A-11D-A377-08 PUM1-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000010671.1 0 0 1 4 142 0 25 1 6.104544e-01 9 58 0 25 2 0 0 0 0 0 2 1 0.883076 4 137 0 25 2 0 0 0 0 25 2 -6.902537 1 0 0 0 1 1 2 3 2.008329 0 0.150000 2.100000 0.158207 0.430000 0.140000 1.000000 0.360000 0.495966 0.430000 0 0.250000 0.760000 CSMD2 114784 broad.mit.edu 37 1 34164425 34164425 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr1:34164425G>A ENST00000373380.1 - 3 692 c.472C>T c.(472-474)Cgg>Tgg p.R158W CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.R1285W Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 p.R1245W(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TCACTACCCCGCAGGCTGTAT 0.602000 1 Substitution - Missense(1) SO:0001583 missense ENST00000373380.1 1 1 hg19 . . . . . . . . . . G 19.54 3.847745 0.71603 . . ENSG00000121904 ENST00000373381;ENST00000373380 T;T 0.65732 -0.17;-0.17 5.76 4.83 0.62350 Complement control module (2);Sushi/SCR/CCP (3); 0.064952 0.64402 D 0.000009 T 0.75398 0.3844 M 0.62266 1.93 0.80722 D 1 D;D;D 0.76494 0.998;0.999;0.999 D;P;P 0.69307 0.963;0.892;0.892 T 0.78157 -0.2313 10 0.66056 D 0.02 . 14.5371 0.67969 0.0:0.0:0.735:0.265 . 158;1245;1285 Q7Z408-2;Q7Z408;E7EUA6 .;CSMD2_HUMAN;. W 1285;158 ENSP00000362479:R1285W;ENSP00000362478:R158W ENSP00000241312:R1245W R - 1 2 CSMD2 33937012 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 2.128000 0.42045 1.522000 0.49001 0.650000 0.86243 CGG TCGA-IB-AAUP-01A-11D-A377-08 CSMD2-002 KNOWN basic protein_coding protein_coding OTTHUMT00000030635.4 0 0 0 9 362 0 58 0 0 0 1 0 58 2 0 0 0 0 0 2 1 0.994068 9 358 0 57 2 0 0 0 0 58 2 -2.745877 1 1 121412 4 38 1 1 2 3 2.008329 0 0.150000 2.100000 0.158207 0.350000 0.160000 1.000000 0.320000 0.422931 0.350000 0 0.240000 0.540000 LPHN2 23266 broad.mit.edu 37 1 82372825 82372825 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr1:82372825G>A ENST00000370728.1 + 6 842 c.197G>A c.(196-198)cGg>cAg p.R66Q LPHN2_ENST00000370717.2_Missense_Mutation_p.R66Q|LPHN2_ENST00000359929.3_Missense_Mutation_p.R66Q|LPHN2_ENST00000370721.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000335786.5_Missense_Mutation_p.R66Q|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370725.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000271029.4_Missense_Mutation_p.R66Q|LPHN2_ENST00000394879.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000370723.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000370715.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000370713.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000370727.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000319517.6_Missense_Mutation_p.R66Q|LPHN2_ENST00000370730.1_Missense_Mutation_p.R66Q O95490 LPHN2_HUMAN latrophilin 2 119 AACTATGGTCGGACGGATGAC 0.453000 0 SO:0001583 missense ENST00000370728.1 1 1 hg19 . . . . . . . . . . G 36 5.681143 0.96774 . . ENSG00000117114 ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786 T;T;T;T;T;T;T;T;T;T;T;T;T;T 0.21361 2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01 5.1 5.1 0.69264 . 0.000000 0.64402 D 0.000001 T 0.52306 0.1726 M 0.92169 3.28 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.97110 0.999;0.998;1.0;1.0 T 0.65709 -0.6102 10 0.87932 D 0 . 18.8804 0.92353 0.0:0.0:1.0:0.0 . 66;66;66;66 O95490-3;O95490-4;O95490-2;B3KVU1 .;.;.;. Q 66 ENSP00000359756:R66Q;ENSP00000359763:R66Q;ENSP00000359765:R66Q;ENSP00000359762:R66Q;ENSP00000359760:R66Q;ENSP00000359758:R66Q;ENSP00000353006:R66Q;ENSP00000359750:R66Q;ENSP00000359748:R66Q;ENSP00000322270:R66Q;ENSP00000359752:R66Q;ENSP00000378344:R66Q;ENSP00000271029:R66Q;ENSP00000337306:R66Q ENSP00000271029:R66Q R + 2 0 LPHN2 82145413 1.000000 0.71417 1.000000 0.80357 0.971000 0.66376 9.695000 0.98691 2.527000 0.85204 0.557000 0.71058 CGG TCGA-IB-AAUP-01A-11D-A377-08 LPHN2-007 KNOWN non_canonical_conserved|not_organism_supported|basic|appris_principal protein_coding protein_coding OTTHUMT00000027188.1 0 0 0 16 514 0 118 0 2.377610e-01 0 29 0 118 2 0 0 0 0 0 2 1 0.999922 16 503 0 116 2 0 0 0 0 118 2 -2.471780 0 1 0 0 1 1 2 3 2.008329 0 0.150000 2.100000 0.158207 0.420000 0.240000 1.000000 0.400000 0.485748 0.420000 0 0.320000 0.590000 KIF16B 55614 broad.mit.edu 37 20 16360516 16360516 + Nonsense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr20:16360516G>A ENST00000354981.2 - 19 2288 c.2131C>T c.(2131-2133)Cga>Tga p.R711* KIF16B_ENST00000355755.3_Nonsense_Mutation_p.R711*|KIF16B_ENST00000378003.2_De_novo_Start_OutOfFrame|KIF16B_ENST00000408042.1_Nonsense_Mutation_p.R711* NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 74 TCTTTGAGTCGTTGGAGTTCT 0.443000 0 SO:0001587 stop_gained ENST00000354981.2 0 1 hg19 CCDS13122.1 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 G 18.79 3.698839 0.68501 . . ENSG00000089177 ENST00000354981;ENST00000355755;ENST00000408042 . . . 5.39 -2.5 0.06384 . 0.267875 0.35585 N 0.003112 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.02654 T 1 . 3.9842 0.09507 0.3095:0.0:0.3307:0.3598 . . . . X 711 . ENSP00000347076:R711X R - 1 2 KIF16B 16308516 0.637000 0.27216 0.033000 0.17914 0.004000 0.04260 0.491000 0.22419 -0.381000 0.07882 0.655000 0.94253 CGA TCGA-IB-AAUP-01A-11D-A377-08 KIF16B-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000078104.2 0 0 0 13 518 0 169 1 1.602418e-01 2 25 0 169 2 0 0 0 0 0 2 1 0.999493 13 510 0 168 2 0 0 0 0 169 2 -2.913835 1 1 121412 12 45 1 0 1 1 1.983559 0 0.150000 2.100000 0.146158 0.330000 0.180000 0.530000 0.320000 0.344815 0.330000 0 0.240000 0.430000 RBM12 10137 broad.mit.edu 37 20 34241168 34241168 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr20:34241168G>A ENST00000374114.3 - 3 2340 c.2077C>T c.(2077-2079)Ccc>Tcc p.P693S CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397443.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000397445.1_Intron NM_001198838.1|NM_001198840.1|NM_006047.5 NP_001185767.1|NP_001185769.1|NP_006038.2 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) CCTGCACTGGGCATTCCCGCA 0.557000 0 SO:0001583 missense ENST00000374114.3 0 1 hg19 CCDS13261.1 . . . . . . . . . . G 36 5.653504 0.96724 . . ENSG00000244462 ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942 T;T;T 0.22336 1.96;1.96;1.96 4.03 4.03 0.46877 . 0.000000 0.64402 D 0.000018 T 0.27663 0.0680 N 0.19112 0.55 0.80722 D 1 D 0.63880 0.993 D 0.70227 0.968 T 0.02365 -1.1170 10 0.19590 T 0.45 -3.377 14.4866 0.67622 0.0:0.0:1.0:0.0 . 693 Q9NTZ6 RBM12_HUMAN S 693;693;693;492 ENSP00000363228:P693S;ENSP00000352668:P693S;ENSP00000363217:P693S ENSP00000339879:P492S P - 1 0 RBM12 33704582 0.002000 0.14202 0.997000 0.53966 0.903000 0.53119 -0.160000 0.10041 2.528000 0.85240 0.563000 0.77884 CCC TCGA-IB-AAUP-01A-11D-A377-08 RBM12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000078894.1 0 0 0 7 649 0 132 0 1.736922e-01 0 61 0 132 2 0 0 0 0 0 2 1 0.979812 7 641 0 132 2 0 0 0 0 132 2 -2.179201 0 1 0 0 1 0 1 1 1.983559 0 0.150000 2.100000 0.146158 0.140000 0.060000 0.280000 0.140000 0.159944 0.140000 0 0.090000 0.210000 IL10RB 3588 broad.mit.edu 37 21 34648943 34648943 + Silent SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr21:34648943G>A ENST00000290200.2 + 3 324 c.216G>A c.(214-216)acG>acA p.T72T AP000295.9_ENST00000433395.2_Missense_Mutation_p.R200Q NM_000628.4 NP_000619.3 Q08334 I10R2_HUMAN interleukin 10 receptor, beta 14 CTACCTTGACGGAATGTGATT 0.423000 Melanoma(67;315 1275 21667 21943 44564) 0 SO:0001819 synonymous_variant ENST00000290200.2 0 1 hg19 CCDS13623.1 . . . . . . . . . . G 6.016 0.371328 0.11409 . . ENSG00000249624 ENST00000433395 . . . 5.73 -6.28 0.02020 . . . . . T 0.15696 0.0378 . . . 0.09310 N 0.999997 . . . . . . T 0.25293 -1.0136 4 . . . -4.5826 1.0173 0.01510 0.3828:0.0988:0.2184:0.3001 . . . . Q 200 . . R + 2 0 AP000295.9 33570813 0.000000 0.05858 0.000000 0.03702 0.079000 0.17450 -2.065000 0.01386 -1.134000 0.02899 -0.136000 0.14681 CGG TCGA-IB-AAUP-01A-11D-A377-08 IL10RB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000139831.3 0 0 0 15 475 0 111 1 6.266995e-01 2 65 0 111 2 0 0 0 0 0 2 1 0.999865 15 470 0 110 2 0 0 0 0 111 2 -2.386193 0 1 0 0 1 0 0 0 1.911145 0 0.150000 2.100000 0.112735 0.390000 0.230000 0.610000 0.390000 0.408734 0.390000 0 0.300000 0.500000 DIP2A 23181 broad.mit.edu 37 21 47918690 47918690 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr21:47918690C>T ENST00000417564.2 + 5 620 c.599C>T c.(598-600)aCg>aTg p.T200M DIP2A_ENST00000466639.1_Missense_Mutation_p.T200M|DIP2A_ENST00000400274.1_Missense_Mutation_p.T200M|DIP2A_ENST00000457905.3_Missense_Mutation_p.T200M|DIP2A_ENST00000435722.3_Missense_Mutation_p.T200M|DIP2A_ENST00000427143.2_Missense_Mutation_p.T136M|DIP2A_ENST00000318711.7_Missense_Mutation_p.T200M Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 43 Breast(49;0.0933) GCTGCAGCCACGCCGGGGGCC 0.667000 0 SO:0001583 missense ENST00000417564.2 1 1 hg19 CCDS46655.1 2 9.157509157509158E-4 2 0.0040650406504065045 0 0.0 0 0.0 0 0.0 C 4.503 0.093291 0.08632 . . ENSG00000160305 ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564 T;T;T;T;T;T;T 0.23754 1.9;1.89;1.93;1.89;1.92;1.91;1.9 1.13 1.13 0.20643 . 1.142920 0.07083 U 0.837442 T 0.24736 0.0600 N 0.08118 0 0.09310 N 1 P;P;D;P;D;P 0.64830 0.819;0.927;0.994;0.819;0.966;0.871 B;B;P;B;B;B 0.62014 0.118;0.322;0.897;0.118;0.176;0.157 T 0.31138 -0.9954 10 0.51188 T 0.08 . 5.6389 0.17552 0.0:1.0:0.0:0.0 . 200;136;200;200;200;200 E9PER1;E7EMA5;Q14689-3;Q14689;Q14689-4;Q14689-2 .;.;.;DIP2A_HUMAN;.;. M 200;136;200;200;200;200;200;200 ENSP00000383133:T200M;ENSP00000400528:T136M;ENSP00000323633:T200M;ENSP00000393434:T200M;ENSP00000430249:T200M;ENSP00000415089:T200M;ENSP00000392066:T200M ENSP00000323633:T200M T + 2 0 DIP2A 46743118 0.014000 0.17966 0.061000 0.19648 0.039000 0.13416 1.503000 0.35715 0.922000 0.37019 0.650000 0.86243 ACG TCGA-IB-AAUP-01A-11D-A377-08 DIP2A-012 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000376736.1 0 0 0 14 234 0 54 1 1.622713e-01 2 10 0 54 2 0 0 0 0 0 2 1 0.999602 11 217 0 47 2 0 0 0 0 54 2 -17.205370 1 1 119628 2 29 1 0 0 0 1.911145 0 0.150000 2.100000 0.112735 0.720000 0.410000 1.000000 1.000000 0.732492 0.720000 0 0.550000 0.920000 MYO18B 84700 broad.mit.edu 37 22 26423121 26423121 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr22:26423121C>T ENST00000407587.2 + 43 7353 c.7184C>T c.(7183-7185)gCg>gTg p.A2395V MYO18B_ENST00000335473.7_Missense_Mutation_p.A2394V|MYO18B_ENST00000536101.1_Missense_Mutation_p.A2394V Q8IUG5 MY18B_HUMAN myosin XVIIIB 146 GTGGACGATGCGGGCTGTCCA 0.587000 0 SO:0001583 missense ENST00000407587.2 1 1 hg19 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 4.414|4.414 0.076583|0.076583 0.08485|0.08485 0.0|0.0 1.21E-4|1.21E-4 ENSG00000133454|ENSG00000133454 ENST00000536101;ENST00000335473;ENST00000407587|ENST00000543971 D;D;D|. 0.86769|. -2.15;-2.15;-2.17|. 5.12|5.12 0.465|0.465 0.16711|0.16711 .|. 0.612932|. 0.14443|. N|. 0.319248|. T|T 0.40815|0.40815 0.1132|0.1132 L|L 0.56769|0.56769 1.78|1.78 0.09310|0.09310 N|N 1|1 B;B;B;B;B|. 0.32968|. 0.266;0.272;0.272;0.392;0.392|. B;B;B;B;B|. 0.21151|. 0.033;0.015;0.015;0.033;0.033|. T|T 0.33343|0.33343 -0.9872|-0.9872 10|5 0.51188|. T|. 0.08|. .|. 5.895|5.895 0.18935|0.18935 0.1315:0.6423:0.0:0.2262|0.1315:0.6423:0.0:0.2262 .|. 1907;2396;2394;2395;2394|. Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7|. .;.;MY18B_HUMAN;.;.|. V|W 2394;2394;2395|344 ENSP00000441229:A2394V;ENSP00000334563:A2394V;ENSP00000386096:A2395V|. ENSP00000334563:A2394V|. A|R +|+ 2|1 0|2 MYO18B|MYO18B 24753121|24753121 0.000000|0.000000 0.05858|0.05858 0.002000|0.002000 0.10522|0.10522 0.006000|0.006000 0.05464|0.05464 -0.144000|-0.144000 0.10280|0.10280 0.180000|0.180000 0.19960|0.19960 -0.969000|-0.969000 0.02612|0.02612 GCG|CGG TCGA-IB-AAUP-01A-11D-A377-08 MYO18B-006 NOVEL non_canonical_conserved|basic|appris_candidate_longest|exp_conf protein_coding protein_coding OTTHUMT00000400691.1 1 0 0 15 325 0 71 0 0 0 1 0 71 2 0 0 0 0 0 2 1 0.999856 14 318 0 71 2 0 0 0 0 71 2 -2.969244 1 1 0 0 1 0 0 0 1.922106 0 0.150000 2.100000 0.118257 0.570000 0.330000 0.870000 0.560000 0.587770 0.570000 0 0.440000 0.720000 HMGXB4 10042 broad.mit.edu 37 22 35661554 35661554 + Silent SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr22:35661554G>A ENST00000216106.5 + 5 1301 c.1173G>A c.(1171-1173)aaG>aaA p.K391K HMGXB4_ENST00000444518.2_Silent_p.K282K NM_001003681.2 NP_001003681.1 Q9UGU5 HMGX4_HUMAN HMG box domain containing 4 19 Aaaaaaaaaagaaaaaagaag 0.493000 0 SO:0001819 synonymous_variant ENST00000216106.5 1 0 hg19 CCDS33641.1 TCGA-IB-AAUP-01A-11D-A377-08 HMGXB4-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000318104.2 1 0 0 9 150 0 38 1 3.074785e-01 6 12 0 38 2 0 0 0 0 0 2 0 0.992344 0 147 0 35 2 0 0 0 0 38 2 -1.686778 0 0 0 0 1 0 0 0 1.922106 0 0.150000 2.100000 0.118257 0.730000 0.360000 1.000000 1.000000 0.738220 0.730000 0 0.520000 0.980000 ACMSD 130013 broad.mit.edu 37 2 135621024 135621024 + Silent SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr2:135621024C>T ENST00000356140.5 + 5 445 c.309C>T c.(307-309)acC>acT p.T103T ACMSD_ENST00000283054.4_Silent_p.T45T|ACMSD_ENST00000392928.1_Silent_p.T45T|AC016725.4_ENST00000392929.2_RNA NM_138326.2 NP_612199.2 Q8TDX5 ACMSD_HUMAN aminocarboxymuconate semialdehyde decarboxylase 14 TTGCCAGCACCGTTGTGAGCT 0.562000 0 SO:0001819 synonymous_variant ENST00000356140.5 1 1 hg19 CCDS2173.2 TCGA-IB-AAUP-01A-11D-A377-08 ACMSD-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254627.1 1 0 0 36 401 0 80 1 6.076734e-02 3 2 0 80 2 0 0 0 0 0 2 1 1.000000 36 395 0 79 2 0 0 0 0 80 2 -2.329789 0 1 0 0 1 1 2 3 2.006085 0 0.150000 2.100000 0.158207 0.990000 0.800000 1.000000 1.000000 0.978729 0.990000 1 0.950000 1.000000 TTN 7273 broad.mit.edu 37 2 179600638 179600638 + Silent SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr2:179600638G>A ENST00000591111.1 - 48 13808 c.13584C>T c.(13582-13584)gaC>gaT p.D4528D TTN_ENST00000342992.6_Silent_p.D3601D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.D4845D|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron Q8WZ42 TITIN_HUMAN titin 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGTTTTCTGCGTCGGAAATCC 0.443000 0 SO:0001819 synonymous_variant ENST00000591111.1 0 1 hg19 TCGA-IB-AAUP-01A-11D-A377-08 TTN-019 PUTATIVE basic protein_coding protein_coding OTTHUMT00000460310.1 0 0 0 8 316 0 103 0 0 0 0 103 2 0 0 0 0 0 2 1 0.989053 7 314 0 102 2 0 0 0 0 103 2 -3.335503 1 1 120846 23 47 1 1 2 3 2.009461 0 0.150000 2.100000 0.158832 0.360000 0.160000 1.000000 0.320000 0.436666 0.360000 0 0.250000 0.580000 SPHKAP 80309 broad.mit.edu 37 2 228884216 228884216 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr2:228884216C>T ENST00000392056.3 - 7 1400 c.1354G>A c.(1354-1356)Gtt>Att p.V452I SPHKAP_ENST00000344657.5_Missense_Mutation_p.V452I NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing p.V452I(2) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) CTCTGAACAACGACGATTTTG 0.507000 2 Substitution - Missense(2) SO:0001583 missense ENST00000392056.3 1 1 hg19 CCDS46537.1 1 4.578754578754579E-4 0 0.0 0 0.0 0 0.0 1 0.0013192612137203166 C 4.730 0.135652 0.09032 . . ENSG00000153820 ENST00000392056;ENST00000344657 T;T 0.05717 3.41;3.4 6.03 2.42 0.29668 . 0.043547 0.85682 N 0.000000 T 0.01353 0.0044 N 0.00332 -1.63 0.23440 N 0.997673 B;B 0.17465 0.002;0.022 B;B 0.08055 0.0;0.003 T 0.47674 -0.9099 10 0.02654 T 1 . 8.9785 0.35950 0.0:0.2142:0.0:0.7858 . 452;452 Q2M3C7;Q2M3C7-2 SPKAP_HUMAN;. I 452 ENSP00000375909:V452I;ENSP00000339886:V452I ENSP00000339886:V452I V - 1 0 SPHKAP 228592460 1.000000 0.71417 0.999000 0.59377 0.974000 0.67602 3.744000 0.55112 0.179000 0.19938 -0.302000 0.09304 GTT TCGA-IB-AAUP-01A-11D-A377-08 SPHKAP-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000331750.1 0 0 0 12 343 0 84 0 0 0 0 84 2 0 0 0 0 0 2 1 0.999045 12 337 0 82 2 0 0 0 0 84 2 -3.783025 1 1 121412 25 44 1 1 2 3 2.009461 0 0.150000 2.100000 0.158832 0.480000 0.250000 1.000000 0.450000 0.540949 0.480000 0 0.350000 0.710000 OTOF 9381 broad.mit.edu 37 2 26703112 26703112 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr2:26703112C>T ENST00000272371.2 - 16 1997 c.1871G>A c.(1870-1872)cGg>cAg p.R624Q OTOF_ENST00000402415.3_5'Flank|OTOF_ENST00000339598.3_5'Flank|OTOF_ENST00000338581.6_5'Flank|OTOF_ENST00000403946.3_Missense_Mutation_p.R624Q NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin p.R624L(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCGTTTCTCCGGTCGATCAT 0.577000 GBM(102;732 1451 20652 24062 31372) 1 Substitution - Missense(1) SO:0001583 missense ENST00000272371.2 1 1 hg19 CCDS1725.1 . . . . . . . . . . C 23.1 4.377006 0.82682 . . ENSG00000115155 ENST00000272371;ENST00000403946 D;D 0.82255 -1.59;-1.59 4.68 4.68 0.58851 . 0.000000 0.85682 D 0.000000 D 0.91496 0.7315 M 0.84846 2.72 0.80722 D 1 D 0.89917 1.0 D 0.79108 0.992 D 0.91054 0.4880 10 0.34782 T 0.22 -26.7423 17.5382 0.87840 0.0:1.0:0.0:0.0 . 624 Q9HC10 OTOF_HUMAN Q 624 ENSP00000272371:R624Q;ENSP00000385255:R624Q ENSP00000272371:R624Q R - 2 0 OTOF 26556616 1.000000 0.71417 1.000000 0.80357 0.351000 0.29236 7.698000 0.84413 2.315000 0.78130 0.561000 0.74099 CGG TCGA-IB-AAUP-01A-11D-A377-08 OTOF-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000214047.3 0 0 0 10 319 1 50 0 0 0 1 50 2 0 0 0 0 0 2 0 0.029663 9 317 1 48 21 0 0 0 1 50 2 -2.589923 1 1 121396 4 38 1 1 2 3 2.043854 0 0.150000 2.100000 0.165644 0.460000 0.220000 1.000000 0.400000 0.544136 0.460000 0 0.320000 1.000000 RNF103 7844 broad.mit.edu 37 2 86839366 86839366 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr2:86839366C>T ENST00000237455.4 - 3 1366 c.398G>A c.(397-399)gGc>gAc p.G133D AC015971.2_ENST00000439077.1_RNA|RNF103_ENST00000477307.1_5'UTR|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000426549.1_RNA NM_001198951.1|NM_005667.3 NP_001185880.1|NP_005658.1 O00237 RN103_HUMAN ring finger protein 103 25 GTGAATTTTGCCCACCAAGGG 0.388000 0 SO:0001583 missense ENST00000237455.4 0 1 hg19 CCDS33237.1 . . . . . . . . . . C 16.02 3.003290 0.54254 . . ENSG00000239305 ENST00000237455 T 0.44881 0.91 5.58 5.58 0.84498 . 0.048876 0.85682 D 0.000000 T 0.40979 0.1139 L 0.47716 1.5 0.52099 D 0.999943 P 0.37525 0.598 B 0.34722 0.188 T 0.36890 -0.9729 10 0.56958 D 0.05 -12.7616 19.5655 0.95391 0.0:1.0:0.0:0.0 . 133 O00237 RN103_HUMAN D 133 ENSP00000237455:G133D ENSP00000237455:G133D G - 2 0 RNF103 86692877 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 4.656000 0.61483 2.639000 0.89480 0.591000 0.81541 GGC TCGA-IB-AAUP-01A-11D-A377-08 RNF103-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000330041.2 0 0 0 5 382 0 76 0 5.133286e-01 0 118 0 76 2 0 0 0 0 0 2 1 0.937075 5 380 0 76 2 0 0 0 0 76 2 -1.950919 0 1 0 0 1 1 2 3 2.043854 0 0.150000 2.100000 0.165644 0.210000 0.070000 1.000000 0.180000 0.349073 0.210000 0 0.120000 1.000000 STARD7 56910 broad.mit.edu 37 2 96873900 96873900 + Silent SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr2:96873900C>T ENST00000337288.5 - 1 656 c.273G>A c.(271-273)caG>caA p.Q91Q AC012307.3_ENST00000446816.1_RNA NM_020151.3 NP_064536.2 Q9NQZ5 STAR7_HUMAN StAR-related lipid transfer (START) domain containing 7 14 ACTCCTCCTCCTGGATCCTCT 0.697000 0 SO:0001819 synonymous_variant ENST00000337288.5 0 1 hg19 CCDS2017.2 TCGA-IB-AAUP-01A-11D-A377-08 STARD7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252848.2 1 0 0 14 190 0 23 1 9.970386e-01 17 118 0 23 2 0 0 0 0 0 2 1 0.999746 14 185 0 21 2 0 0 0 0 23 2 -3.319431 1 1 0 0 1 1 2 3 2.043854 0 0.150000 2.100000 0.165644 0.990000 0.560000 1.000000 1.000000 0.906095 0.990000 1 0.750000 1.000000 KPNA4 3840 broad.mit.edu 37 3 160233331 160233331 + Missense_Mutation SNP C C G TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr3:160233331C>G ENST00000334256.4 - 12 1246 c.941G>C c.(940-942)gGa>gCa p.G314A SCARNA7_ENST00000458797.1_RNA NM_002268.4 NP_002259.1 O00629 IMA3_HUMAN karyopherin alpha 4 (importin alpha 3) 22 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) CTCATCAGTTCCAGTAACAAT 0.383000 0 SO:0001583 missense ENST00000334256.4 1 1 hg19 CCDS3191.1 . . . . . . . . . . C 31 5.102219 0.94245 . . ENSG00000186432 ENST00000334256;ENST00000483437 T;T 0.32515 1.45;1.45 5.55 5.55 0.83447 Armadillo-like helical (1);Armadillo-type fold (1); 0.000000 0.85682 D 0.000000 T 0.68320 0.2988 M 0.93808 3.46 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.76586 -0.2905 10 0.87932 D 0 -4.4791 19.8667 0.96806 0.0:1.0:0.0:0.0 . 314 O00629 IMA4_HUMAN A 314;19 ENSP00000334373:G314A;ENSP00000417172:G19A ENSP00000334373:G314A G - 2 0 KPNA4 161716025 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 7.668000 0.83897 2.773000 0.95371 0.655000 0.94253 GGA TCGA-IB-AAUP-01A-11D-A377-08 KPNA4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000352960.1 1 0 0 19 469 0 73 0 9.773725e-01 0 154 0 73 2 0 0 0 0 0 2 1 0.999989 19 461 0 73 2 0 0 0 0 73 2 -4.302401 1 1 0 0 1 1 4 5 2.440650 1 0.150000 2.100000 0.299691 0.640000 0.390000 1.000000 0.630000 0.669284 0.640000 0 0.510000 0.830000 SLC7A14 57709 broad.mit.edu 37 3 170198388 170198388 + Silent SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr3:170198388C>T ENST00000231706.5 - 7 1998 c.1683G>A c.(1681-1683)acG>acA p.T561T CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) CCGTGTGCCCCGTCGCTGCTG 0.507000 0 SO:0001819 synonymous_variant ENST00000231706.5 0 1 hg19 CCDS33892.1 TCGA-IB-AAUP-01A-11D-A377-08 SLC7A14-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000352598.2 0 0 0 5 335 0 108 0 0 0 0 108 2 0 0 0 0 0 2 1 0.937016 5 333 0 108 2 0 0 0 0 108 2 -3.165705 1 1 121412 2 34 1 1 4 5 2.440650 1 0.150000 2.100000 0.299691 0.260000 0.090000 1.000000 0.240000 0.309241 0.260000 0 0.160000 0.420000 CSPG5 10675 broad.mit.edu 37 3 47618423 47618423 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr3:47618423G>A ENST00000383738.2 - 2 3191 c.1093C>T c.(1093-1095)Cgg>Tgg p.R365W CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000456150.1_Missense_Mutation_p.R227W|CSPG5_ENST00000264723.4_Missense_Mutation_p.R365W NM_001206943.1|NM_001206945.1 NP_001193872.1|NP_001193874.1 O95196 CSPG5_HUMAN chondroitin sulfate proteoglycan 5 (neuroglycan C) 22 CCGTTATGCCGCACAAAGCCA 0.632000 0 SO:0001583 missense ENST00000383738.2 0 1 hg19 CCDS56253.1 . . . . . . . . . . G 18.27 3.587159 0.66105 . . ENSG00000114646 ENST00000456150;ENST00000383738;ENST00000264723 T;T;T 0.26810 1.76;1.73;1.71 4.63 -0.0101 0.13998 . 0.137586 0.46442 D 0.000299 T 0.39064 0.1064 L 0.44542 1.39 0.22581 N 0.998964 D;D 0.89917 1.0;1.0 D;D 0.72075 0.976;0.976 T 0.34725 -0.9817 10 0.72032 D 0.01 -10.6519 13.8559 0.63527 0.0:0.0:0.4812:0.5187 . 365;365 O95196;O95196-2 CSPG5_HUMAN;. W 227;365;365 ENSP00000392096:R227W;ENSP00000373244:R365W;ENSP00000264723:R365W ENSP00000264723:R365W R - 1 2 CSPG5 47593427 0.029000 0.19370 0.546000 0.28166 0.984000 0.73092 0.680000 0.25306 0.127000 0.18452 -0.182000 0.12963 CGG TCGA-IB-AAUP-01A-11D-A377-08 CSPG5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257489.1 0 0 0 6 573 1 112 0 0 0 1 112 2 0 0 0 0 0 2 0 0.008650 6 557 1 108 18 0 0 0 1 112 2 -1.732903 0 1 0 0 1 0 1 1 1.975898 0 0.150000 2.100000 0.144224 0.140000 0.050000 0.280000 0.130000 0.157924 0.140000 0 0.090000 0.210000 WNT5A 7474 broad.mit.edu 37 3 55504238 55504238 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr3:55504238C>T ENST00000474267.1 - 6 1546 c.1025G>A c.(1024-1026)cGt>cAt p.R342H WNT5A_ENST00000264634.4_Missense_Mutation_p.R342H|WNT5A_ENST00000497027.1_Missense_Mutation_p.R327H|WNT5A_ENST00000493406.1_5'Flank P41221 WNT5A_HUMAN wingless-type MMTV integration site family, member 5A 13 GTCGTAGCCACGGCCGCAGCA 0.632000 0 SO:0001583 missense ENST00000474267.1 1 1 hg19 CCDS46850.1 . . . . . . . . . . C 35 5.549874 0.96501 . . ENSG00000114251 ENST00000474267;ENST00000264634;ENST00000536765;ENST00000497027 T;T;T 0.80033 -1.33;-1.33;-1.33 5.67 5.67 0.87782 . 0.000000 0.85682 D 0.000000 D 0.93973 0.8070 H 0.97291 3.975 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.95589 0.8653 10 0.87932 D 0 . 19.7728 0.96373 0.0:1.0:0.0:0.0 . 342 P41221 WNT5A_HUMAN H 342;342;253;327 ENSP00000417310:R342H;ENSP00000264634:R342H;ENSP00000420104:R327H ENSP00000264634:R342H R - 2 0 WNT5A 55479278 1.000000 0.71417 0.975000 0.42487 0.997000 0.91878 7.813000 0.86123 2.687000 0.91594 0.655000 0.94253 CGT TCGA-IB-AAUP-01A-11D-A377-08 WNT5A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000350793.3 0 0 0 11 437 0 83 0 1.731822e-01 0 28 0 83 2 0 0 0 0 0 2 1 0.998313 11 434 0 78 2 0 0 0 0 83 2 -3.476012 1 1 0 0 1 0 1 1 1.975898 0 0.150000 2.100000 0.144224 0.330000 0.170000 0.550000 0.320000 0.348488 0.330000 0 0.240000 0.440000 HSPA4 3308 broad.mit.edu 37 5 132432935 132432935 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr5:132432935G>A ENST00000304858.2 + 15 2175 c.1886G>A c.(1885-1887)aGa>aAa p.R629K NM_002154.3 NP_002145.3 P34932 HSP74_HUMAN heat shock 70kDa protein 4 32 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TATGAAATGAGAGACAAGCTT 0.393000 Colon(114;1299 1588 6063 12302 48757) 0 SO:0001583 missense ENST00000304858.2 1 1 hg19 CCDS4166.1 . . . . . . . . . . G 34 5.308483 0.95629 . . ENSG00000170606 ENST00000304858 T 0.12879 2.64 5.8 4.93 0.64822 . 0.000000 0.85682 D 0.000000 T 0.23532 0.0569 M 0.83953 2.67 0.80722 D 1 B 0.21071 0.051 B 0.23150 0.044 T 0.03684 -1.1013 10 0.66056 D 0.02 -17.85 14.6068 0.68486 0.0695:0.0:0.9305:0.0 . 629 P34932 HSP74_HUMAN K 629 ENSP00000302961:R629K ENSP00000302961:R629K R + 2 0 HSPA4 132460834 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 9.476000 0.97823 1.455000 0.47813 0.579000 0.79373 AGA TCGA-IB-AAUP-01A-11D-A377-08 HSPA4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251011.1 0 0 0 14 503 0 100 1 9.935335e-01 17 283 0 100 2 0 0 0 0 0 2 1 0.999760 14 503 0 99 2 0 0 0 0 100 2 -3.043198 1 1 0 0 1 1 2 3 1.988579 0 0.150000 2.100000 0.154439 0.370000 0.210000 1.000000 0.350000 0.417667 0.370000 0 0.280000 0.510000 PPP2R2B 5521 broad.mit.edu 37 5 145979904 145979904 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr5:145979904C>T ENST00000394413.3 - 7 1480 c.910G>A c.(910-912)Gtc>Atc p.V304I PPP2R2B_ENST00000394414.1_Missense_Mutation_p.V370I|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.V307I|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.V304I|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.V362I|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.V310I|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.V293I|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.V293I|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.V304I|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.V304I Q00005 2ABB_HUMAN protein phosphatase 2, regulatory subunit B, beta 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAGACTTTGACGGTCAAGTAG 0.458000 0 SO:0001583 missense ENST00000394413.3 1 1 hg19 CCDS4284.1 . . . . . . . . . . C 17.68 3.450488 0.63290 0.0 1.16E-4 ENSG00000156475 ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409 T;T;T;T;T;T;T;T;T;T 0.28069 1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63 5.8 4.03 0.46877 WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1); 0.058449 0.64402 D 0.000002 T 0.26412 0.0645 L 0.43152 1.355 0.80722 D 1 B;B;B;B;B;B 0.28998 0.23;0.063;0.036;0.23;0.119;0.036 B;B;B;B;B;B 0.23852 0.049;0.029;0.029;0.04;0.029;0.029 T 0.03784 -1.1004 10 0.52906 T 0.07 -6.6079 12.7697 0.57412 0.0:0.8663:0.0:0.1337 . 362;310;293;370;307;304 Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005 .;.;.;.;.;2ABB_HUMAN I 304;293;370;304;304;304;293;307;310;362 ENSP00000377935:V304I;ENSP00000431320:V293I;ENSP00000377936:V370I;ENSP00000377933:V304I;ENSP00000349283:V304I;ENSP00000398779:V304I;ENSP00000377932:V293I;ENSP00000336591:V307I;ENSP00000421396:V310I;ENSP00000377931:V362I ENSP00000336591:V307I V - 1 0 AC011357.1 145960097 1.000000 0.71417 0.912000 0.35992 0.976000 0.68499 6.088000 0.71371 0.805000 0.34159 0.655000 0.94253 GTC TCGA-IB-AAUP-01A-11D-A377-08 PPP2R2B-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251893.2 0 0 0 16 499 0 115 0 6.833688e-02 0 13 0 115 2 0 0 0 0 0 2 1 0.999920 15 487 0 115 2 0 0 0 0 115 2 -2.781561 1 1 121412 7 41 1 1 2 3 1.988579 0 0.150000 2.100000 0.154439 0.430000 0.250000 1.000000 0.410000 0.467492 0.430000 0 0.330000 0.570000 FAM105A 54491 broad.mit.edu 37 5 14608915 14608915 + Missense_Mutation SNP T T C TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr5:14608915T>C ENST00000274217.3 + 7 806 c.686T>C c.(685-687)cTt>cCt p.L229P NM_019018.2 NP_061891.1 Q9NUU6 F105A_HUMAN family with sequence similarity 105, member A p.S231fs*13(1) 11 Lung NSC(4;0.00592) TGCAACACCCTTTTTTCAGAT 0.328000 1 Deletion - Frameshift(1) SO:0001583 missense ENST00000274217.3 0 1 hg19 CCDS3884.1 . . . . . . . . . . T 16.58 3.162069 0.57368 . . ENSG00000145569 ENST00000274217 T 0.16597 2.33 4.89 4.89 0.63831 . 0.109676 0.40064 N 0.001185 T 0.41213 0.1149 M 0.72894 2.215 0.58432 D 0.999999 D 0.89917 1.0 D 0.76575 0.988 T 0.37454 -0.9705 10 0.87932 D 0 -8.3487 14.4858 0.67616 0.0:0.0:0.0:1.0 . 229 Q9NUU6 F105A_HUMAN P 229 ENSP00000274217:L229P ENSP00000274217:L229P L + 2 0 FAM105A 14661915 0.991000 0.36638 0.996000 0.52242 0.879000 0.50718 4.189000 0.58358 1.819000 0.53055 0.477000 0.44152 CTT TCGA-IB-AAUP-01A-11D-A377-08 FAM105A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253710.1 0 0 0 5 334 0 99 0 2.041238e-01 0 47 0 99 2 0 0 0 0 0 2 1 0.935017 4 329 0 97 2 0 0 0 0 99 2 -2.966388 1 1 0 0 1 1 2 3 2.044957 0 0.150000 2.100000 0.166258 0.240000 0.080000 1.000000 0.200000 0.376539 0.240000 0 0.140000 1.000000 NMBR 4829 broad.mit.edu 37 6 142409703 142409703 + Silent SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr6:142409703C>T ENST00000258042.1 - 1 233 c.93G>A c.(91-93)ccG>ccA p.P31P RP11-137J7.2_ENST00000454401.1_RNA NM_002511.2 NP_002502.2 P28336 NMBR_HUMAN neuromedin B receptor 23 Breast(32;0.155) CGTCCGAGGCCGGCAGGAAAT 0.607000 0 SO:0001819 synonymous_variant ENST00000258042.1 0 1 hg19 CCDS5196.1 TCGA-IB-AAUP-01A-11D-A377-08 NMBR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042479.1 0 0 0 5 174 0 29 0 0 0 0 29 2 0 0 0 0 0 2 1 0.933685 4 170 0 27 2 0 0 0 0 29 2 -7.207952 1 1 0 0 1 1 2 3 1.986500 0 0.150000 2.100000 0.153808 0.410000 0.150000 1.000000 0.370000 0.456751 0.410000 0 0.260000 0.640000 LPA 4018 broad.mit.edu 37 6 161020531 161020531 + Splice_Site SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr6:161020531C>T ENST00000316300.5 - 20 3332 c.e20+1 LPA_ENST00000447678.1_Splice_Site P08519 APOA_HUMAN lipoprotein, Lp(a) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) Aminocaproic Acid(DB00513) CAAAGACGTACGCATTTGGGT 0.483000 0 SO:0001630 splice_region_variant ENST00000316300.5 1 1 hg19 CCDS43523.1 . . . . . . . . . . C 10.78 1.446431 0.25987 . . ENSG00000198670 ENST00000316300;ENST00000447678 . . . 2.48 2.48 0.30137 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 8.4117 0.32646 0.0:1.0:0.0:0.0 . . . . . -1 . . . - . . LPA 160940521 1.000000 0.71417 0.930000 0.37139 0.007000 0.05969 3.793000 0.55484 1.361000 0.45981 0.436000 0.28706 . TCGA-IB-AAUP-01A-11D-A377-08 LPA-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042957.1 0 0 0 57 1695 0 430 0 0 0 0 430 2 0 0 0 0 0 2 1 1.000000 57 1680 0 426 2 0 0 0 0 430 2 -3.495209 1 1 121386 1 40 1 1 2 3 1.986500 0 0.150000 2.100000 0.153808 0.430000 0.330000 1.000000 0.430000 0.467719 0.430000 0 0.380000 0.510000 LRFN2 57497 broad.mit.edu 37 6 40359728 40359728 + Missense_Mutation SNP C C T rs146316351 byFrequency TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr6:40359728C>T ENST00000338305.6 - 3 2866 c.2324G>A c.(2323-2325)cGg>cAg p.R775Q NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 58 Ovarian(28;0.0418)|Colorectal(47;0.196) AAAAGTCCCCCGGGCCCCCAC 0.607000 0 SO:0001583 missense ENST00000338305.6 0 1 hg19 CCDS34443.1 1 4.578754578754579E-4 1 0.0020325203252032522 0 0.0 0 0.0 0 0.0 C 11.74 1.728986 0.30684 9.08E-4 0.0 ENSG00000156564 ENST00000338305 T 0.58060 0.36 5.27 4.39 0.52855 . 0.100654 0.64402 D 0.000004 T 0.13030 0.0316 N 0.14661 0.345 0.22489 N 0.999054 B 0.33857 0.429 B 0.20184 0.028 T 0.02471 -1.1154 10 0.44086 T 0.13 . 6.092 0.19999 0.0:0.7541:0.0:0.2459 . 775 Q9ULH4 LRFN2_HUMAN Q 775 ENSP00000345985:R775Q ENSP00000345985:R775Q R - 2 0 LRFN2 40467706 0.997000 0.39634 0.964000 0.40570 0.675000 0.39556 2.529000 0.45632 2.466000 0.83321 0.555000 0.69702 CGG TCGA-IB-AAUP-01A-11D-A377-08 LRFN2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040488.1 0 0 0 6 228 0 37 0 0 0 0 37 2 0 0 0 0 0 2 1 0.963649 6 224 0 37 2 0 0 0 0 37 2 -2.772230 1 1 121388 17 43 1 1 2 3 1.986500 0 0.150000 2.100000 0.153808 0.370000 0.150000 1.000000 0.330000 0.416654 0.370000 0 0.240000 0.560000 TCTE1 202500 broad.mit.edu 37 6 44254126 44254126 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr6:44254126C>T ENST00000371505.4 - 3 543 c.421G>A c.(421-423)Gtg>Atg p.V141M RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371503.3_De_novo_Start_InFrame|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_5'Flank NM_182539.3 NP_872345.2 Q5JU00 TCTE1_HUMAN t-complex-associated-testis-expressed 1 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) ACGTGGCACACGGGCCAGCGA 0.607000 0 SO:0001583 missense ENST00000371505.4 0 1 hg19 CCDS4910.1 . . . . . . . . . . C 16.73 3.205486 0.58234 . . ENSG00000146221 ENST00000371505 T 0.56103 0.48 4.95 4.08 0.47627 . 0.130007 0.53938 D 0.000059 T 0.45438 0.1342 M 0.78801 2.425 0.80722 D 1 D 0.57257 0.979 P 0.44518 0.452 T 0.56601 -0.7952 10 0.72032 D 0.01 -28.4028 13.2188 0.59875 0.0:0.9224:0.0:0.0776 . 141 Q5JU00 TCTE1_HUMAN M 141 ENSP00000360560:V141M ENSP00000360560:V141M V - 1 0 TCTE1 44362104 0.355000 0.24921 0.987000 0.45799 0.989000 0.77384 0.902000 0.28459 1.079000 0.41038 -0.251000 0.11542 GTG TCGA-IB-AAUP-01A-11D-A377-08 TCTE1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040736.1 0 0 0 5 329 1 83 0 0 0 1 83 2 0 0 0 0 0 2 0 0.027311 5 324 1 83 14 0 0 0 1 83 2 -3.166722 1 1 0 0 1 1 2 3 1.986500 0 0.150000 2.100000 0.153808 0.220000 0.080000 1.000000 0.190000 0.271156 0.220000 0 0.130000 0.350000 MDN1 23195 broad.mit.edu 37 6 90453401 90453401 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr6:90453401G>A ENST00000369393.3 - 30 4326 c.4211C>T c.(4210-4212)gCa>gTa p.A1404V MDN1_ENST00000428876.1_Missense_Mutation_p.A1404V Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) TGCCAAGGCTGCAAATACCTG 0.463000 0 SO:0001583 missense ENST00000369393.3 0 1 hg19 CCDS5024.1 . . . . . . . . . . G 22.5 4.299744 0.81136 . . ENSG00000112159 ENST00000369393;ENST00000428876 T;T 0.60548 0.18;0.18 5.48 5.48 0.80851 ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1); 0.054981 0.64402 D 0.000001 D 0.84754 0.5542 H 0.98646 4.29 0.58432 D 0.999992 D 0.76494 0.999 D 0.80764 0.994 D 0.90653 0.4584 10 0.87932 D 0 . 19.3403 0.94337 0.0:0.0:1.0:0.0 . 1404 Q9NU22 MDN1_HUMAN V 1404 ENSP00000358400:A1404V;ENSP00000413970:A1404V ENSP00000358400:A1404V A - 2 0 MDN1 90510122 1.000000 0.71417 1.000000 0.80357 0.984000 0.73092 9.689000 0.98673 2.562000 0.86427 0.563000 0.77884 GCA TCGA-IB-AAUP-01A-11D-A377-08 MDN1-005 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041514.2 0 0 0 6 643 1 118 0 0 0 1 1 118 2 0 0 0 0 0 2 0 0.006357 6 637 1 118 19 0 0 0 1 118 2 -2.569556 1 1 0 0 1 1 2 3 1.986500 0 0.150000 2.100000 0.153808 0.130000 0.050000 1.000000 0.120000 0.183053 0.130000 0 0.080000 0.210000 RELN 5649 broad.mit.edu 37 7 103629732 103629732 + Silent SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr7:103629732G>A ENST00000428762.1 - 1 231 c.72C>T c.(70-72)cgC>cgT p.R24R RELN_ENST00000343529.5_Silent_p.R24R|RELN_ENST00000424685.2_Silent_p.R24R NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 227 CAGCCGCCGCGCGCGCCCTCA 0.711000 NSCLC(146;835 1944 15585 22231 52158) 0 SO:0001819 synonymous_variant ENST00000428762.1 0 1 hg19 CCDS47680.1 TCGA-IB-AAUP-01A-11D-A377-08 RELN-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000348148.1 0 0 0 5 151 0 31 0 0 0 0 31 2 0 0 0 0 0 2 1 0.936442 5 149 0 30 2 0 0 0 0 31 2 -7.666080 1 1 0 0 1 1 2 3 1.998802 0 0.150000 2.100000 0.156328 0.480000 0.180000 1.000000 0.420000 0.532044 0.480000 0 0.300000 0.780000 NOBOX 135935 broad.mit.edu 37 7 144097345 144097345 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr7:144097345C>T ENST00000467773.1 - 5 904 c.905G>A c.(904-906)cGc>cAc p.R302H NOBOX_ENST00000483238.1_Missense_Mutation_p.R302H|NOBOX_ENST00000223140.5_Missense_Mutation_p.R217H NM_001080413.3 NP_001073882.3 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 26 Melanoma(164;0.14) AATCTCTCGGCGTTTATCACT 0.557000 0 SO:0001583 missense ENST00000467773.1 1 1 hg19 . . . . . . . . . . C 19.76 3.888183 0.72524 . . ENSG00000106410 ENST00000483238;ENST00000467773;ENST00000223140;ENST00000555556 D;D;D 0.97505 -4.41;-4.41;-4.41 5.79 4.91 0.64330 Homeodomain-related (1);Homeobox (3);Homeodomain-like (1); 0.139728 0.38778 N 0.001576 D 0.99010 0.9662 H 0.98111 4.15 0.36943 D 0.892459 D 0.89917 1.0 D 0.97110 1.0 D 0.99947 1.1488 10 0.87932 D 0 -29.743 12.7537 0.57321 0.0:0.9207:0.0:0.0793 . 302 O60393 NOBOX_HUMAN H 302;302;217;91 ENSP00000419565:R302H;ENSP00000419457:R302H;ENSP00000223140:R217H ENSP00000223140:R217H R - 2 0 NOBOX 143728278 1.000000 0.71417 0.745000 0.31077 0.663000 0.39108 5.277000 0.65586 1.450000 0.47717 0.650000 0.86243 CGC TCGA-IB-AAUP-01A-11D-A377-08 NOBOX-002 KNOWN basic protein_coding protein_coding OTTHUMT00000350095.1 0 0 0 10 261 0 60 0 0 0 0 60 2 0 0 0 0 0 2 1 0.996917 10 259 0 60 2 0 0 0 0 60 2 -3.847369 1 1 0 0 1 1 2 3 2.000634 0 0.150000 2.100000 0.156955 0.530000 0.260000 1.000000 0.490000 0.572250 0.530000 0 0.370000 0.770000 PAPOLB 56903 broad.mit.edu 37 7 4899881 4899881 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr7:4899881C>T ENST00000404991.1 - 1 1744 c.1558G>A c.(1558-1560)Gac>Aac p.D520N RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron NM_020144.4 NP_064529.4 Q9NRJ5 PAPOB_HUMAN poly(A) polymerase beta (testis specific) 14 Ovarian(82;0.0175) AAGCTGCTGTCGTTCAAATCT 0.458000 0 SO:0001583 missense ENST00000404991.1 1 1 hg19 . . . . . . . . . . C 4.337 0.061936 0.08339 . . ENSG00000218823 ENST00000404991 . . . 4.24 4.24 0.50183 . . . . . T 0.49609 0.1567 L 0.34521 1.04 0.52501 D 0.999953 B 0.10296 0.003 B 0.09377 0.004 T 0.39057 -0.9632 8 0.17369 T 0.5 . 14.9342 0.70941 0.0:1.0:0.0:0.0 . 521 A4D1Z6 . N 520 . ENSP00000384700:D520N D - 1 0 PAPOLB 4866407 1.000000 0.71417 0.119000 0.21687 0.038000 0.13279 6.480000 0.73604 2.662000 0.90505 0.591000 0.81541 GAC TCGA-IB-AAUP-01A-11D-A377-08 PAPOLB-001 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000323797.1 0 0 0 17 378 0 90 0 0 0 0 90 2 0 0 0 0 0 2 1 0.999961 17 371 0 90 2 0 0 0 0 90 2 -3.026924 1 1 0 0 1 1 2 3 2.087839 0 0.150000 2.100000 0.178942 0.660000 0.370000 1.000000 0.580000 0.710275 0.660000 0 0.490000 1.000000 FER1L6 654463 broad.mit.edu 37 8 125058136 125058136 + Silent SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr8:125058136C>T ENST00000522917.1 + 21 2924 c.2718C>T c.(2716-2718)gaC>gaT p.D906D FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Silent_p.D906D|FER1L6-AS2_ENST00000520031.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like family member 6 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) ATGACAGCGACGCTGTGGTGA 0.507000 0 SO:0001819 synonymous_variant ENST00000522917.1 1 1 hg19 CCDS43767.1 TCGA-IB-AAUP-01A-11D-A377-08 FER1L6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000381400.1 1 0 0 35 517 0 134 0 0 0 1 0 134 2 0 0 0 0 0 2 1 1.000000 35 513 0 132 2 0 0 0 0 134 2 -20.000000 1 1 120910 4 39 1 0 0 0 1.942478 0 0.150000 2.100000 0.127758 0.820000 0.580000 1.000000 1.000000 0.825522 0.820000 0 0.690000 0.960000 GRIN3A 116443 broad.mit.edu 37 9 104385694 104385694 + Silent SNP G G A rs143827340 TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr9:104385694G>A ENST00000361820.3 - 5 3120 c.2520C>T c.(2518-2520)gaC>gaT p.D840D NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A p.D840E(1)|p.D840D(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193) TGATGAAGGCGTCTAGTTTCT 0.423000 2 Substitution - Missense(1)|Substitution - coding silent(1) SO:0001819 synonymous_variant ENST00000361820.3 1 1 hg19 CCDS6758.1 TCGA-IB-AAUP-01A-11D-A377-08 GRIN3A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053453.1 1 0 0 18 341 0 91 0 0 0 1 0 91 2 0 0 0 0 0 2 1 0.999982 18 338 0 91 2 0 0 0 0 91 2 -3.227833 1 1 121408 18 43 1 1 2 3 2.030197 0 0.150000 2.100000 0.163180 0.720000 0.430000 1.000000 1.000000 0.746821 0.720000 0 0.550000 1.000000 PIGO 84720 broad.mit.edu 37 9 35092197 35092197 + Missense_Mutation SNP C C G TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr9:35092197C>G ENST00000378617.3 - 7 2081 c.1687G>C c.(1687-1689)Gat>Cat p.D563H PIGO_ENST00000492770.1_5'Flank|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.D563H|PIGO_ENST00000361778.2_Intron NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) ACAAAACTATCAGAGAAGAAC 0.597000 0 SO:0001583 missense ENST00000378617.3 1 1 hg19 CCDS6575.1 . . . . . . . . . . C 17.83 3.485923 0.63962 . . ENSG00000165282 ENST00000378617;ENST00000341666 T;T 0.56444 0.46;0.46 5.55 5.55 0.83447 . 0.000000 0.85682 D 0.000000 T 0.72415 0.3457 M 0.68952 2.095 0.80722 D 1 D 0.89917 1.0 D 0.73380 0.98 T 0.73461 -0.3975 10 0.87932 D 0 -16.9008 19.6982 0.96039 0.0:1.0:0.0:0.0 . 563 Q8TEQ8 PIGO_HUMAN H 563 ENSP00000367880:D563H;ENSP00000339382:D563H ENSP00000339382:D563H D - 1 0 PIGO 35082197 0.998000 0.40836 1.000000 0.80357 0.972000 0.66771 3.975000 0.56859 2.894000 0.99253 0.655000 0.94253 GAT TCGA-IB-AAUP-01A-11D-A377-08 PIGO-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052284.1 0 0 0 16 302 0 38 1 8.620962e-01 2 67 0 38 2 0 0 0 0 0 2 1 0.999936 16 300 0 38 2 0 0 0 0 38 2 -5.081362 1 1 0 0 1 1 7 8 2.815833 1 0.150000 2.100000 0.413793 0.990000 0.590000 1.000000 1.000000 0.914849 0.990000 1 0.770000 1.000000 PIGO 84720 broad.mit.edu 37 9 35092359 35092359 + Missense_Mutation SNP C C G TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr9:35092359C>G ENST00000378617.3 - 7 1919 c.1525G>C c.(1525-1527)Gat>Cat p.D509H PIGO_ENST00000492770.1_5'Flank|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.D509H|PIGO_ENST00000361778.2_Intron NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) AGCACTAGATCTAGCTTCAGC 0.587000 0 SO:0001583 missense ENST00000378617.3 1 1 hg19 CCDS6575.1 . . . . . . . . . . C 15.99 2.994626 0.54041 . . ENSG00000165282 ENST00000378617;ENST00000341666 T;T 0.56103 0.48;0.48 5.38 5.38 0.77491 . 0.324049 0.36740 N 0.002440 T 0.59238 0.2179 L 0.59436 1.845 0.80722 D 1 D 0.53151 0.958 P 0.50791 0.65 T 0.51616 -0.8683 10 0.15066 T 0.55 -3.8987 19.3311 0.94288 0.0:1.0:0.0:0.0 . 509 Q8TEQ8 PIGO_HUMAN H 509 ENSP00000367880:D509H;ENSP00000339382:D509H ENSP00000339382:D509H D - 1 0 PIGO 35082359 1.000000 0.71417 0.706000 0.30403 0.701000 0.40568 6.553000 0.73918 2.813000 0.96785 0.655000 0.94253 GAT TCGA-IB-AAUP-01A-11D-A377-08 PIGO-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052284.1 1 0 0 28 381 0 58 0 9.806942e-01 0 88 0 58 2 0 0 0 0 0 2 1 1.000000 28 376 0 58 2 0 0 0 0 58 2 -3.318804 1 1 0 0 1 1 7 8 2.815833 1 0.150000 2.100000 0.413793 0.990000 0.910000 1.000000 1.000000 0.994862 0.990000 1 0.990000 1.000000 NRK 203447 broad.mit.edu 37 X 105167200 105167200 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chrX:105167200C>T ENST00000243300.9 + 18 3004 c.2701C>T c.(2701-2703)Cgg>Tgg p.R901W NRK_ENST00000428173.2_Missense_Mutation_p.R902W NM_198465.2 NP_940867.2 Q7Z2Y5 NRK_HUMAN Nik related kinase 76 TGAAATCTTCCGGAATGATTG 0.438000 HNSCC(51;0.14) 0 SO:0001583 missense ENST00000243300.9 1 1 hg19 . . . . . . . . . . c 9.801 1.180645 0.21787 3.01E-4 0.0 ENSG00000123572 ENST00000243300;ENST00000428173 T;T 0.76709 -1.03;-1.04 3.58 1.77 0.24775 . 0.531001 0.14438 N 0.319547 T 0.56455 0.1986 N 0.12182 0.205 0.80722 D 1 B;B 0.17465 0.022;0.005 B;B 0.09377 0.004;0.001 T 0.46541 -0.9184 10 0.49607 T 0.09 . 5.109 0.14800 0.0:0.7318:0.0:0.2682 . 569;901 Q7Z2Y5-2;Q7Z2Y5 .;NRK_HUMAN W 901;902 ENSP00000434830:R901W;ENSP00000438378:R902W ENSP00000434830:R901W R + 1 2 NRK 105053856 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 0.938000 0.28965 0.336000 0.23639 0.597000 0.82753 CGG TCGA-IB-AAUP-01A-11D-A377-08 NRK-001 KNOWN non_canonical_conserved|basic|appris_candidate protein_coding protein_coding OTTHUMT00000106480.6 1 0 0 18 253 0 57 0 6.201483e-02 0 6 0 57 2 0 0 0 0 0 2 1 0.999981 17 248 0 56 2 0 0 0 0 57 2 -2.879357 1 1 120826 1 41 1 0 1 1 0.150000 2.100000 0.150000 0.440000 0.270000 0.650000 0.430000 0.454309 0.440000 0 0.340000 0.550000 OFD1 8481 broad.mit.edu 37 X 13778776 13778776 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chrX:13778776C>T ENST00000340096.6 + 16 2524 c.2197C>T c.(2197-2199)Cgc>Tgc p.R733C OFD1_ENST00000380567.1_Missense_Mutation_p.R593C|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.R693C NM_003611.2 NP_003602.1 O75665 OFD1_HUMAN oral-facial-digital syndrome 1 25 TTCCTCCAGACGCCTCTCTTC 0.567000 0 SO:0001583 missense ENST00000340096.6 1 1 hg19 CCDS14157.1 . . . . . . . . . . C 12.30 1.895886 0.33442 . . ENSG00000046651 ENST00000380550;ENST00000340096;ENST00000380567 D;D;D 0.96802 -4.13;-4.1;-1.96 5.4 3.62 0.41486 . 0.544069 0.19617 N 0.109994 D 0.92672 0.7671 M 0.62723 1.935 0.24464 N 0.994429 P;P;P;B;P 0.41546 0.647;0.647;0.754;0.238;0.647 B;B;B;B;B 0.31337 0.091;0.091;0.128;0.04;0.091 D 0.86025 0.1509 10 0.51188 T 0.08 -0.794 7.0936 0.25297 0.0:0.7013:0.1382:0.1605 . 733;693;401;593;733 A8K2T9;O75665-3;B4DLQ3;A6NF31;O75665 .;.;.;.;OFD1_HUMAN C 693;733;593 ENSP00000369923:R693C;ENSP00000344314:R733C;ENSP00000369941:R593C ENSP00000344314:R733C R + 1 0 OFD1 13688697 0.340000 0.24792 0.135000 0.22099 0.844000 0.47949 0.699000 0.25586 0.473000 0.27368 0.529000 0.55759 CGC TCGA-IB-AAUP-01A-11D-A377-08 OFD1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000055808.1 1 0 0 12 209 0 57 1 9.588162e-01 7 90 0 57 2 0 0 0 0 0 2 1 0.999123 12 206 0 56 2 0 0 0 0 57 2 -15.075890 1 1 0 0 1 0 1 1 0.150000 2.100000 0.150000 0.360000 0.190000 0.580000 0.350000 0.378716 0.360000 0 0.270000 0.470000 MXRA5 25878 broad.mit.edu 37 X 3239037 3239037 + Silent SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chrX:3239037G>A ENST00000217939.6 - 5 4843 c.4689C>T c.(4687-4689)tcC>tcT p.S1563S NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CATCCTGGTCGGAAGAGGGTG 0.453000 0 SO:0001819 synonymous_variant ENST00000217939.6 1 1 hg19 CCDS14124.1 TCGA-IB-AAUP-01A-11D-A377-08 MXRA5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055655.2 1 0 1 27 441 0 134 1 9.998132e-01 40 177 0 134 2 0 0 0 0 0 2 1 1.000000 26 435 0 131 2 0 0 0 0 134 2 -2.540062 1 1 0 0 1 0 1 1 0.150000 2.100000 0.150000 0.380000 0.250000 0.530000 0.380000 0.392362 0.380000 0 0.310000 0.460000 ATRX 546 broad.mit.edu 37 X 76938810 76938810 + Silent SNP T T C TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chrX:76938810T>C ENST00000373344.5 - 9 2152 c.1938A>G c.(1936-1938)ttA>ttG p.L646L ATRX_ENST00000395603.3_Silent_p.L608L|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.3 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked p.?(1) 145 CCTCTAAAAGTAATGAAACTT 0.403000 Mis, F, N Pancreatic neuroendocrine tumors, paediatric GBM ATR-X (alpha thalassemia/mental retardation) syndrome Rec yes X Xq21.1 546 alpha thalassemia/mental retardation syndrome X-linked yes E 1 Unknown(1) SO:0001819 synonymous_variant ENST00000373344.5 1 1 hg19 CCDS14434.1 TCGA-IB-AAUP-01A-11D-A377-08 ATRX-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000058860.2 1 0 0 48 818 0 276 1 2.070035e-01 3 12 0 276 2 0 0 0 0 0 2 1 1.000000 48 811 0 275 2 0 0 0 0 276 2 -20.000000 1 1 0 0 1 0 1 1 0.150000 2.100000 0.150000 0.360000 0.270000 0.470000 0.370000 0.373882 0.360000 0 0.310000 0.420000 RPS6KA6 27330 broad.mit.edu 37 X 83361395 83361395 + Missense_Mutation SNP G G T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chrX:83361395G>T ENST00000262752.2 - 15 1350 c.1343C>A c.(1342-1344)aCc>aAc p.T448N RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Missense_Mutation_p.T448N NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 46 TTCCATGTTGGTAGTTGCATG 0.363000 0 SO:0001583 missense ENST00000262752.2 0 1 hg19 CCDS14451.1 . . . . . . . . . . G 20.7 4.032610 0.75504 . . ENSG00000072133 ENST00000262752;ENST00000543399 T;T 0.45276 0.9;0.9 5.45 4.52 0.55395 Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.220899 0.45867 N 0.000332 T 0.49372 0.1553 L 0.51422 1.61 0.53005 D 0.99996 B;B 0.29115 0.233;0.233 B;B 0.42771 0.397;0.345 T 0.51865 -0.8651 10 0.72032 D 0.01 . 14.4183 0.67165 0.0:0.0:0.8326:0.1674 . 448;448 B7ZL90;Q9UK32 .;KS6A6_HUMAN N 448 ENSP00000262752:T448N;ENSP00000440830:T448N ENSP00000262752:T448N T - 2 0 RPS6KA6 83248051 1.000000 0.71417 0.991000 0.47740 0.875000 0.50365 7.489000 0.81451 0.975000 0.38392 0.422000 0.28245 ACC TCGA-IB-AAUP-01A-11D-A377-08 RPS6KA6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057372.1 1 0 1 12 92 0 24 0 0 0 1 0 24 2 0 0 0 0 0 2 1 0.999265 12 91 0 24 2 0 0 0 0 24 2 -19.345500 1 1 0 0 1 0 1 1 0.150000 2.100000 0.150000 0.720000 0.410000 0.970000 0.730000 0.723621 0.720000 0 0.550000 0.890000