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 RBP3 5949 broad.mit.edu 37 10 48389530 48389530 + Missense_Mutation SNP C C T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr10:48389530C>T ENST00000224600.4 - 1 1461 c.1348G>A c.(1348-1350)Gcc>Acc p.A450T AL731561.2_ENST00000581861.1_RNA NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 59 Vitamin A(DB00162) AGGACGGAGGCGTCAGCAAAA 0.617000 0 SO:0001583 missense ENST00000224600.4 0 1 hg19 CCDS7218.1 . . . . . . . . . . C 13.120000 2.143091 0.378250 . . ENSG00000107618 ENST00000224600 T 0.64260 -0.09 5.290000 4.290000 0.510400 Interphotoreceptor retinol-binding (2); 0.373325 0.28296 N 0.015863 T 0.67392 0.2888 N 0.21545 0.675 0.339640 D 0.645929 D 0.89917 1.0 D 0.81914 0.995 T 0.76498 -0.2937 10 0.59425 D 0.04 -20.5537 15.734500 0.778310 0.1457:0.8543:0.0:0.0 . 450 P10745 RET3_HUMAN T 450 ENSP00000224600:A450T ENSP00000224600:A450T A - 1 0 RBP3 48009536 6.040000e-01 0.269320 0.052000 0.191880 0.192000 0.236430 1.115000 0.312090 2.483000 0.838210 0.561000 0.740990 GCC TCGA-3A-A9IX-01A-11D-A40W-08 RBP3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000047888.1 0 0 0 5 208 0 40 0 0 0 0 40 2 0 0 0 0 0 2 1 9.351301e-01 5 204 0 37 2 -6.695076 1 1 121410 2 32 1 0 0 0 1.974433 0 0.100000 2 0.082569 0.480000 0.180000 0.950000 1.000000 0.516249 0.480000 0 0.310000 0.710000 PLEKHA7 144100 broad.mit.edu 37 11 16872763 16872763 + Missense_Mutation SNP C C T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr11:16872763C>T ENST00000355661.3 - 8 681 c.671G>A c.(670-672)cGc>cAc p.R224H PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.R224H|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.R224H Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 p.R224H(1) 37 GCGGCTTATGCGATCCTCAGG 0.483000 1 Substitution - Missense(1) SO:0001583 missense ENST00000355661.3 0 1 hg19 CCDS31434.1 . . . . . . . . . . C 8.567000 0.879093 0.173950 . . ENSG00000166689 ENST00000531066;ENST00000355661;ENST00000448080;ENST00000528376 T;T;T;T 0.75821 -0.97;-0.97;-0.97;2.73 5.510000 5.510000 0.819320 Pleckstrin homology-type (1);Pleckstrin homology domain (3); 0.095653 0.64402 D 0.000001 T 0.57021 0.2025 N 0.25094 0.71 0.430470 D 0.994640 B;B 0.23442 0.006;0.085 B;B 0.22880 0.006;0.042 T 0.53725 -0.8398 10 0.02654 T 1 -20.3034 13.678400 0.624690 0.0:0.9262:0.0:0.0738 . 224;224 E9PKC0;Q6IQ23 .;PKHA7_HUMAN H 224;224;224;118 ENSP00000435389:R224H;ENSP00000347883:R224H;ENSP00000416895:R224H;ENSP00000435806:R118H ENSP00000347883:R224H R - 2 0 PLEKHA7 16829339 1 0.714170 1.000000 0.803570 0.994000 0.842990 3.732000 0.550210 2.605000 0.880820 0.655000 0.942530 CGC TCGA-3A-A9IX-01A-11D-A40W-08 PLEKHA7-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000387242.2 0 0 0 5 320 0 47 0 1.105713e-01 0 30 0 47 2 0 0 0 0 0 2 1 9.349077e-01 5 314 0 47 2 -2.131004 0 1 121412 1 31 1 1 2 3 2.008178 0 0.100000 2 0.107586 0.360000 0.130000 1.000000 0.310000 0.445346 0.360000 0 0.220000 0.670000 PIK3C2A 5286 broad.mit.edu 37 11 17190613 17190613 + Missense_Mutation SNP G G C TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr11:17190613G>C ENST00000265970.7 - 1 675 c.676C>G c.(676-678)Cta>Gta p.L226V PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Intron NM_002645.2 NP_002636.2 O00443 P3C2A_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 58 TTGTCAAATAGTTTTGCCATG 0.378000 0 SO:0001583 missense ENST00000265970.7 0 1 hg19 CCDS7824.1 . . . . . . . . . . G 10.190000 1.283209 0.233920 . . ENSG00000011405 ENST00000265970;ENST00000544896 T 0.68903 -0.36 5.530000 4.620000 0.575010 . 0.150075 0.46145 N 0.000306 T 0.45458 0.1343 N 0.24115 0.695 0.807220 D 1.000000 P;B 0.36683 0.565;0.058 B;B 0.25884 0.064;0.017 T 0.41395 -0.9511 10 0.30078 T 0.28 -7.8251 10.336300 0.438520 0.0778:0.1736:0.7486:0.0 . 226;226 F5H5W9;O00443 .;P3C2A_HUMAN V 226 ENSP00000265970:L226V ENSP00000265970:L226V L - 1 2 PIK3C2A 17147189 1 0.714170 1.000000 0.803570 0.983000 0.724000 3.116000 0.503990 1.335000 0.454860 -0.218000 0.125430 CTA TCGA-3A-A9IX-01A-11D-A40W-08 PIK3C2A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000387553.1 0 0 0 5 181 0 58 0 1.605707e-01 0 22 0 58 2 0 0 0 0 0 2 0 0 0 0 0 2 -7.283241 1 0 0 0 1 1 2 3 2.008178 0 0.100000 2 0.107586 0.620000 0.230000 1.000000 1.000000 0.656152 0.620000 0 0.380000 1.000000 KCNA4 3739 broad.mit.edu 37 11 30033662 30033662 + Missense_Mutation SNP C C G TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr11:30033662C>G ENST00000328224.6 - 2 1797 c.564G>C c.(562-564)gaG>gaC p.E188D KCNA4_ENST00000526518.1_5'Flank NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 78 Dalfampridine(DB06637) TCATTTGGGTCTCAAAGCGTA 0.493000 0 SO:0001583 missense ENST00000328224.6 1 1 hg19 CCDS41629.1 . . . . . . . . . . C 15.890000 2.967116 0.535070 . . ENSG00000182255 ENST00000328224 T 0.78246 -1.16 4.810000 3.880000 0.447660 BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1); 0.000000 0.85682 D 0.000000 D 0.83510 0.5270 H 0.96398 3.815 0.584320 D 0.999993 P 0.43938 0.822 B 0.41135 0.348 D 0.85507 0.1195 10 0.87932 D 0 . 9.255200 0.375790 0.0:0.7634:0.0:0.2366 . 188 P22459 KCNA4_HUMAN D 188 ENSP00000328511:E188D ENSP00000328511:E188D E - 3 2 KCNA4 29990238 1 0.714170 1.000000 0.803570 0.980000 0.705560 1.176000 0.319570 1.001000 0.390760 0.561000 0.740990 GAG TCGA-3A-A9IX-01A-11D-A40W-08 KCNA4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000388074.2 0 0 0 11 279 0 49 0 0 0 0 49 2 0 0 0 0 0 2 1 9.983250e-01 11 276 0 48 2 -12.382310 1 1 0 0 1 1 2 3 2.008178 0 0.100000 2 0.107586 0.820000 0.420000 1.000000 1.000000 0.806259 0.820000 0 0.590000 1.000000 OR52M1 119772 broad.mit.edu 37 11 4566917 4566917 + Missense_Mutation SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr11:4566917G>A ENST00000360213.1 + 1 497 c.497G>A c.(496-498)cGc>cAc p.R166H NM_001004137.1 NP_001004137.1 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, member 1 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) CTGATGATCCGCCTGCGGCTG 0.522000 0 SO:0001583 missense ENST00000360213.1 0 1 hg19 CCDS31353.1 . . . . . . . . . . G 10.310000 1.315172 0.239080 . . ENSG00000197790 ENST00000360213 T 0.00137 8.68 4.980000 2.090000 0.271100 GPCR, rhodopsin-like superfamily (1); 0.142760 0.32593 N 0.005884 T 0.00144 0.0004 L 0.55834 1.745 0.093100 N 0.999994 B 0.17852 0.024 B 0.16722 0.016 T 0.40979 -0.9534 10 0.62326 D 0.03 . 4.955300 0.140360 0.3208:0.143:0.5362:0.0 . 166 Q8NGK5 O52M1_HUMAN H 166 ENSP00000353343:R166H ENSP00000353343:R166H R + 2 0 OR52M1 4523493 0 0.058580 0.122000 0.217670 0.864000 0.494480 -1.025000 0.036000 0.389000 0.250860 -0.133000 0.148550 CGC TCGA-3A-A9IX-01A-11D-A40W-08 OR52M1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000385847.1 0 0 0 11 424 0 64 0 0 0 0 64 2 0 0 0 0 0 2 1 9.981770e-01 11 415 0 62 2 -2.576260 1 1 121408 7 41 1 1 2 3 2.008178 0 0.100000 2 0.107586 0.550000 0.280000 1.000000 0.500000 0.603431 0.550000 0 0.390000 0.860000 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 C T C C Valid Somatic Phase_I WXS targeted Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c 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 23.400000 4.409094 0.833400 . . ENSG00000133703 ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131 T;T;T;T 0.78595 -1.19;-1.19;-1.19;-1.19 5.680000 5.680000 0.881260 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.85919 0.5809 M 0.91818 3.245 0.807220 D 1.000000 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 . 18.371900 0.904090 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 0.714170 1.000000 0.803570 0.998000 0.957120 7.743000 0.850200 2.668000 0.907890 0.563000 0.778840 GGT TCGA-3A-A9IX-01A-11D-A40W-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 0 0 0 6 201 0 74 0 1.835716e-01 0 23 0 74 2 1 9.946456e-01 11 335 0 264 2 1 9.645832e-01 6 199 0 73 2 -3.682514 1 1 121404 2 44 1 1 2 3 2.001631 0 0.100000 2 0.105812 0.640000 0.260000 1.000000 1.000000 0.672448 0.640000 0 0.420000 1.000000 MBNL2 10150 broad.mit.edu 37 13 97999092 97999092 + Missense_Mutation SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr13:97999092G>A ENST00000376673.3 + 5 1356 c.575G>A c.(574-576)cGg>cAg p.R192Q MBNL2_ENST00000445661.2_Intron|MBNL2_ENST00000343600.4_Missense_Mutation_p.R192Q|MBNL2_ENST00000397601.1_Missense_Mutation_p.R192Q|MBNL2_ENST00000345429.6_Missense_Mutation_p.R192Q Q5VZF2 MBNL2_HUMAN muscleblind-like splicing regulator 2 17 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.218) AACTGTGCCCGGGGAGAGACC 0.607000 0 SO:0001583 missense ENST00000376673.3 1 1 hg19 . . . . . . . . . . G 37.000000 6.122025 0.973000 . . ENSG00000139793 ENST00000397601;ENST00000343600;ENST00000345429;ENST00000376673 T;T;T;T 0.51071 0.72;0.72;0.72;0.72 5.950000 5.950000 0.964410 Zinc finger, CCCH-type (3); 0.053503 0.85682 D 0.000000 T 0.77308 0.4111 M 0.91090 3.175 0.807220 D 1.000000 D;D;D 0.89917 1.0;0.995;0.997 D;D;P 0.78314 0.991;0.92;0.898 T 0.81185 -0.1048 10 0.87932 D 0 . 20.402400 0.990000 0.0:0.0:1.0:0.0 . 192;192;192 Q5VZF2;A2A3S3;Q5VZF2-2 MBNL2_HUMAN;.;. Q 192 ENSP00000380726:R192Q;ENSP00000344214:R192Q;ENSP00000267287:R192Q;ENSP00000365861:R192Q ENSP00000344214:R192Q R + 2 0 MBNL2 96797093 1 0.714170 1.000000 0.803570 0.991000 0.796840 9.854000 0.995220 2.827000 0.974450 0.650000 0.862430 CGG TCGA-3A-A9IX-01A-11D-A40W-08 MBNL2-202 KNOWN basic protein_coding protein_coding 1 0 0 11 207 0 51 1 9.885337e-01 7 139 0 51 2 0 0 0 0 0 2 1 9.981042e-01 11 199 0 50 2 -2.886213 1 1 0 0 1 1 2 3 2.003966 0 0.100000 2 0.106256 0.990000 0.560000 1.000000 1.000000 0.921307 0.990000 1 0.780000 1.000000 TEP1 7011 broad.mit.edu 37 14 20858856 20858856 + Missense_Mutation SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr14:20858856G>A ENST00000262715.5 - 15 2358 c.2318C>T c.(2317-2319)gCt>gTt p.A773V TEP1_ENST00000556935.1_Missense_Mutation_p.A665V NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) CCTTTGGCCAGCCAGAGACAG 0.438000 0 SO:0001583 missense ENST00000262715.5 0 1 hg19 CCDS9548.1 . . . . . . . . . . G 4.876000 0.162909 0.092870 . . ENSG00000129566 ENST00000262715;ENST00000359243;ENST00000556935 T;T 0.44482 0.96;0.92 4.980000 4.090000 0.477810 . 0.560122 0.19177 N 0.120783 T 0.28928 0.0718 L 0.45137 1.4 0.807220 D 1.000000 B;B;B 0.20261 0.043;0.008;0.025 B;B;B 0.18263 0.021;0.01;0.009 T 0.04855 -1.0922 10 0.07175 T 0.84 -3.4708 8.587500 0.336660 0.1009:0.0:0.8991:0.0 . 665;123;773 G3V5X7;G3V2A4;Q99973 .;.;TEP1_HUMAN V 773;773;665 ENSP00000262715:A773V;ENSP00000452574:A665V ENSP00000262715:A773V A - 2 0 TEP1 19928696 9.950000e-01 0.382120 0.997000 0.539660 0.950000 0.603330 2.649000 0.466560 2.756000 0.946170 0.655000 0.942530 GCT TCGA-3A-A9IX-01A-11D-A40W-08 TEP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000073563.2 0 0 0 5 236 0 46 0 3.210462e-02 0 11 0 46 2 0 0 0 0 0 2 1 9.361185e-01 5 233 0 46 2 -3.105264 1 1 121412 1 27 1 1 2 3 2.006638 0 0.100000 2 0.107143 0.480000 0.170000 1.000000 0.400000 0.544652 0.480000 0 0.300000 0.870000 NOVA1 4857 broad.mit.edu 37 14 27064659 27064659 + Silent SNP A A T rs115769795 byFrequency TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr14:27064659A>T ENST00000344429.5 - 2 240 c.237T>A c.(235-237)acT>acA p.T79T NOVA1-AS1_ENST00000547786.1_RNA|NOVA1_ENST00000267422.7_5'UTR|RP11-483C6.1_ENST00000572358.1_RNA|NOVA1_ENST00000465357.2_Silent_p.T79T|NOVA1_ENST00000551754.1_5'UTR|NOVA1_ENST00000574031.1_Silent_p.T79T|NOVA1_ENST00000539517.2_Silent_p.T79T|NOVA1_ENST00000547619.1_Silent_p.T79T NM_006491.2 NP_006482.1 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 40 TGGTGGCTCCAGTTTCTTTTT 0.423000 0 SO:0001819 synonymous_variant ENST00000344429.5 0 1 hg19 CCDS9635.1 TCGA-3A-A9IX-01A-11D-A40W-08 NOVA1-001 KNOWN basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000276557.1 0 0 0 6 465 0 101 0 5.259571e-02 0 24 0 101 2 0 0 0 0 0 2 1 9.642567e-01 6 461 0 98 2 -3.080077 1 1 0 0 1 1 2 3 2.006638 0 0.100000 2 0.107143 0.290000 0.110000 1.000000 0.260000 0.381975 0.290000 0 0.180000 0.510000 PSMC6 5706 broad.mit.edu 37 14 53194224 53194224 + Silent SNP C C T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr14:53194224C>T ENST00000606149.1 + 14 1075 c.1059C>T c.(1057-1059)ttC>ttT p.F353F PSMC6_ENST00000445930.2_Silent_p.F367F|PSMC6_ENST00000557557.1_3'UTR|STYX_ENST00000354586.4_5'Flank|STYX_ENST00000442123.2_5'Flank NM_002806.3 NP_002797.3 P62333 PRS10_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 6 19 Breast(41;0.176) CAGGTATGTTCGCAATTCGTG 0.323000 0 SO:0001819 synonymous_variant ENST00000606149.1 0 1 hg19 TCGA-3A-A9IX-01A-11D-A40W-08 PSMC6-018 KNOWN basic|appris_candidate protein_coding protein_coding OTTHUMT00000470741.1 0 0 0 6 173 0 41 1 9.888699e-01 34 214 0 41 2 0 0 0 0 0 2 1 9.619456e-01 6 167 0 40 2 -3.494015 1 1 121408 9 35 1 1 2 3 2.006638 0 0.100000 2 0.107143 0.750000 0.300000 1.000000 1.000000 0.747895 0.750000 0 0.490000 1.000000 KCNH5 27133 broad.mit.edu 37 14 63269191 63269191 + Missense_Mutation SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr14:63269191G>A ENST00000322893.7 - 9 1946 c.1678C>T c.(1678-1680)Cgc>Tgc p.R560C KCNH5_ENST00000420622.2_Missense_Mutation_p.R560C|KCNH5_ENST00000394968.1_Missense_Mutation_p.R502C NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 99 GCCAAGGCGCGCAGACACCCA 0.512000 0 SO:0001583 missense ENST00000322893.7 1 1 hg19 CCDS9756.1 . . . . . . . . . . G 20.200000 3.948501 0.737870 . . ENSG00000140015 ENST00000322893;ENST00000420622;ENST00000394968 D;D;D 0.96940 -4.18;-4.18;-4.18 5.130000 4.220000 0.498570 Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2); 0.000000 0.85682 D 0.000000 D 0.98413 0.9472 M 0.91038 3.17 0.807220 D 1.000000 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 1.0;1.0;1.0 D 0.99564 1.0969 10 0.87932 D 0 . 15.724200 0.777400 0.0:0.1373:0.8627:0.0 . 502;560;560 Q8NCM2-3;Q8NCM2-2;Q8NCM2 .;.;KCNH5_HUMAN C 560;560;502 ENSP00000321427:R560C;ENSP00000395439:R560C;ENSP00000378419:R502C ENSP00000321427:R560C R - 1 0 KCNH5 62338944 1 0.714170 0.977000 0.429130 0.897000 0.524650 5.628000 0.677910 1.265000 0.442150 0.563000 0.778840 CGC TCGA-3A-A9IX-01A-11D-A40W-08 KCNH5-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000411747.1 0 0 0 14 342 0 48 0 0 0 0 48 2 0 0 0 0 0 2 1 9.997434e-01 14 337 0 45 2 -3.012310 1 1 0 0 1 1 2 3 2.010425 0 0.100000 2 0.108028 0.840000 0.470000 1.000000 1.000000 0.827074 0.840000 0 0.630000 1.000000 THBS1 7057 broad.mit.edu 37 15 39884787 39884787 + Missense_Mutation SNP C C T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr15:39884787C>T ENST00000260356.5 + 17 2716 c.2551C>T c.(2551-2553)Cgc>Tgc p.R851C CTD-2033D15.1_ENST00000560769.1_RNA NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) TGACTCAGACCGCATTGGAGA 0.453000 0 SO:0001583 missense ENST00000260356.5 0 1 hg19 CCDS32194.1 . . . . . . . . . . C 22.900000 4.345471 0.820220 . . ENSG00000137801 ENST00000260356 D 0.98400 -4.91 5.000000 5.000000 0.665970 . 0.492001 0.15344 N 0.267319 D 0.98510 0.9503 L 0.58101 1.795 0.584320 D 0.999996 B;D 0.89917 0.151;1.0 B;D 0.63381 0.075;0.914 D 0.99748 1.1017 10 0.66056 D 0.02 -5.5658 18.634200 0.913710 0.0:1.0:0.0:0.0 . 766;851 B4E3J7;P07996 .;TSP1_HUMAN C 851 ENSP00000260356:R851C ENSP00000260356:R851C R + 1 0 THBS1 37672079 9.970000e-01 0.396340 0.999000 0.593770 0.996000 0.888480 6.081000 0.713090 2.474000 0.835620 0.655000 0.942530 CGC TCGA-3A-A9IX-01A-11D-A40W-08 THBS1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257831.2 0 0 0 4 94 0 18 1 9.999965e-01 30 1585 0 18 2 0 0 0 0 0 2 1 8.918450e-01 4 94 0 17 2 -4.070278 1 1 0 0 1 0 1 1 1.986317 0 0.100000 2 0.091368 0.820000 0.290000 1.000000 1.000000 0.782319 0.820000 0 0.510000 1.000000 RHBDF1 64285 broad.mit.edu 37 16 108512 108512 + Missense_Mutation SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr16:108512G>A ENST00000262316.6 - 18 2537 c.2395C>T c.(2395-2397)Cgg>Tgg p.R799W NM_022450.3 NP_071895.3 Q96CC6 RHDF1_HUMAN rhomboid 5 homolog 1 (Drosophila) 18 all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159) CAGCGTTTCCGGTACAGGTCG 0.552000 0 SO:0001583 missense ENST00000262316.6 1 1 hg19 CCDS32344.1 . . . . . . . . . . . 15.510000 2.856054 0.513760 . . ENSG00000007384 ENST00000262316 T 0.55930 0.49 5.070000 4.110000 0.480880 . 0.052909 0.85682 D 0.000000 T 0.53465 0.1798 M 0.81942 2.565 0.807220 D 1.000000 P 0.51449 0.945 B 0.42188 0.379 T 0.60875 -0.7176 10 0.87932 D 0 -26.6161 8.639200 0.339680 0.0821:0.0:0.7579:0.16 . 799 Q96CC6 RHDF1_HUMAN W 799 ENSP00000262316:R799W ENSP00000262316:R799W R - 1 2 RHBDF1 48512 1 0.714170 1.000000 0.803570 0.449000 0.322280 7.637000 0.833130 1.270000 0.442970 -0.229000 0.122940 CGG TCGA-3A-A9IX-01A-11D-A40W-08 RHBDF1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000134178.2 1 0 1 29 556 0 120 1 9.643132e-01 13 93 0 120 2 0 0 0 0 0 2 1 1 29 549 0 116 2 -2.737383 1 1 121410 1 33 1 1 2 3 2.013518 0 0.100000 2 0.108470 0.990000 0.690000 1.000000 1.000000 0.946080 0.990000 1 0.850000 1.000000 SEPHS2 22928 broad.mit.edu 37 16 30456632 30456632 + Missense_Mutation SNP G G T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 G T G G Valid Somatic Phase_I WXS targeted Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr16:30456632G>T ENST00000478753.2 - 1 870 c.417C>A c.(415-417)ttC>ttA p.F139L SEPHS2_ENST00000500504.2_Missense_Mutation_p.F139L|SEPHS2_ENST00000542752.1_Missense_Mutation_p.F82L Q99611 SPS2_HUMAN selenophosphate synthetase 2 10 AGGGGTAAAAGAAGTCCGTGG 0.602000 Esophageal Squamous(81;1142 1261 11202 24614 35697) 0 SO:0001583 missense ENST00000478753.2 1 1 hg19 . . . . . . . . . . G 19.460000 3.831271 0.712580 . . ENSG00000179918 ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504 T;T;T 0.28666 1.6;1.6;1.6 5.460000 3.490000 0.399570 PurM, N-terminal-like (1);AIR synthase-related protein (1); 0.000000 0.85682 D 0.000000 T 0.43366 0.1244 M 0.82056 2.57 0.807220 D 1.000000 P;P 0.40144 0.704;0.582 P;B 0.49085 0.6;0.331 T 0.42531 -0.9446 10 0.62326 D 0.03 -18.3451 6.836800 0.239410 0.2644:0.0:0.7356:0.0 . 139;82 Q99611;F5H8F9 SPS2_HUMAN;. L 139;82;90;139 ENSP00000418669:F139L;ENSP00000443601:F82L;ENSP00000426234:F139L ENSP00000390233:F90L F - 3 2 SEPHS2 30364133 1 0.714170 1.000000 0.803570 0.996000 0.888480 1.645000 0.372380 1.450000 0.477170 0.655000 0.942530 TTC TCGA-3A-A9IX-01A-11D-A40W-08 SEPHS2-001 KNOWN basic|seleno protein_coding protein_coding OTTHUMT00000109640.11 0 0 0 10 222 0 63 1 9.510197e-01 19 99 0 63 2 1 9.998711e-01 22 372 0 302 2 1 9.969325e-01 10 220 0 62 2 -12.371280 1 1 0 0 1 1 2 3 2.013518 0 0.100000 2 0.108470 0.940000 0.470000 1.000000 1.000000 0.866430 0.940000 1 0.670000 1.000000 HERPUD1 9709 broad.mit.edu 37 16 56973198 56973198 + Missense_Mutation SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr16:56973198G>A ENST00000439977.2 + 5 678 c.481G>A c.(481-483)Ggt>Agt p.G161S RP11-325K4.2_ENST00000570210.1_RNA|HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000379792.2_Missense_Mutation_p.G136S|RP11-325K4.3_ENST00000565861.1_RNA|HERPUD1_ENST00000300302.5_Missense_Mutation_p.G160S|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 TGGTTTCTCCGGTTACACACC 0.493000 T ERG prostate Dom yes 16 16q12.2-q13 9709 homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 E 0 SO:0001583 missense ENST00000439977.2 1 1 hg19 CCDS10771.1 . . . . . . . . . . G 15.120000 2.737940 0.490450 0.0 1.16E-4 ENSG00000051108 ENST00000439977;ENST00000379792;ENST00000300302 T 0.28666 1.6 5.970000 5.020000 0.671250 . 0.312317 0.37577 N 0.002021 T 0.35008 0.0917 L 0.44542 1.39 0.200740 N 0.999937 D;P;D;P 0.69078 0.997;0.745;0.997;0.751 P;B;P;B 0.54100 0.712;0.067;0.742;0.153 T 0.20773 -1.0265 10 0.08381 T 0.77 -6.0487 14.033900 0.646340 0.0719:0.0:0.9281:0.0 . 161;136;160;161 A4UAE9;E9PGD1;Q15011-2;Q15011 .;.;.;HERP1_HUMAN S 160;136;161 ENSP00000369118:G136S ENSP00000300302:G161S G + 1 0 HERPUD1 55530699 6.740000e-01 0.275490 0.967000 0.410340 0.965000 0.642790 2.328000 0.438670 1.527000 0.490860 0.585000 0.799380 GGT TCGA-3A-A9IX-01A-11D-A40W-08 HERPUD1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000257056.5 1 0 0 40 806 0 198 1 1 24 601 0 198 2 0 0 0 0 0 2 1 1 39 796 0 193 2 -2.872668 1 1 121412 3 40 1 1 2 3 2.013518 0 0.100000 2 0.108470 0.980000 0.700000 1.000000 1.000000 0.933878 0.980000 1 0.820000 1.000000 PHF12 57649 broad.mit.edu 37 17 27239855 27239855 + Silent SNP C C T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr17:27239855C>T ENST00000332830.4 - 9 2544 c.1734G>A c.(1732-1734)cgG>cgA p.R578R PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000577226.1_Silent_p.R578R|PHF12_ENST00000268756.3_Silent_p.R578R NM_001033561.1 NP_001028733.1 PHD finger protein 12 30 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) GCCAGCCTTGCCGGTGTGAGA 0.637000 0 SO:0001819 synonymous_variant ENST00000332830.4 0 1 hg19 CCDS32598.1 TCGA-3A-A9IX-01A-11D-A40W-08 PHF12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255941.1 0 0 0 6 361 0 82 0 3.982890e-01 0 74 0 82 2 0 0 0 0 0 2 1 9.565625e-01 6 335 0 75 2 -2.600466 1 1 0 0 1 1 2 3 2.025542 0 0.100000 2 0.111111 0.390000 0.150000 1.000000 0.320000 0.487731 0.390000 0 0.240000 1.000000 CYB561 1534 broad.mit.edu 37 17 61513435 61513435 + Missense_Mutation SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr17:61513435G>A ENST00000392976.1 - 3 580 c.281C>T c.(280-282)gCg>gTg p.A94V CYB561_ENST00000360793.3_Missense_Mutation_p.A94V|CYB561_ENST00000581573.1_Missense_Mutation_p.A94V|CYB561_ENST00000448884.2_Missense_Mutation_p.A94V|CYB561_ENST00000542042.1_Missense_Mutation_p.A161V|CYB561_ENST00000582297.1_Missense_Mutation_p.A94V|CYB561_ENST00000582034.1_Missense_Mutation_p.A65V|CYB561_ENST00000581163.1_5'UTR|CYB561_ENST00000582997.1_Missense_Mutation_p.A101V|CYB561_ENST00000584031.1_Missense_Mutation_p.A94V|CYB561_ENST00000392975.2_Missense_Mutation_p.A94V NM_001017916.1 NP_001017916.1 P49447 CY561_HUMAN cytochrome b561 4 GATGACGAGCGCAAAGATGTG 0.612000 0 SO:0001583 missense ENST00000392976.1 0 1 hg19 CCDS11636.1 . . . . . . . . . . G 10.730000 1.431165 0.257260 . . ENSG00000008283 ENST00000360793;ENST00000392976;ENST00000392975;ENST00000448884;ENST00000542042 T;T;T;T;T 0.54071 0.59;0.59;0.59;0.59;0.59 4.340000 4.340000 0.519310 Cytochrome b561, eukaryote (1);Cytochrome b561/ferric reductase transmembrane (2); 0.055735 0.64402 D 0.000001 T 0.71500 0.3347 M 0.78285 2.405 0.807220 D 1.000000 D;D;D;D 0.89917 0.997;1.0;0.998;0.984 P;D;P;P 0.91635 0.893;0.999;0.827;0.68 T 0.74702 -0.3576 10 0.54805 T 0.06 -16.3975 13.719400 0.627170 0.0:0.0:1.0:0.0 . 94;94;161;94 B7Z775;B3KTA1;F5H757;P49447 .;.;.;CY561_HUMAN V 94;94;94;94;161 ENSP00000354028:A94V;ENSP00000376702:A94V;ENSP00000376701:A94V;ENSP00000400350:A94V;ENSP00000442773:A161V ENSP00000354028:A94V A - 2 0 CYB561 58867167 1 0.714170 0.095000 0.209760 0.024000 0.109850 7.913000 0.874710 2.244000 0.739460 0.561000 0.740990 GCG TCGA-3A-A9IX-01A-11D-A40W-08 CYB561-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000444843.1 0 0 0 5 301 0 53 0 5.117696e-01 0 93 0 53 2 0 0 0 0 0 2 1 9.353054e-01 5 296 0 53 2 -2.718022 1 1 121410 3 34 1 0 1 1 1.945631 0 0.100000 2 0.052632 0.320000 0.120000 0.640000 0.290000 0.348222 0.320000 0 0.200000 0.480000 SMAD4 4089 broad.mit.edu 37 18 48591918 48591918 + Missense_Mutation SNP C C T rs80338963 TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 C T C C Valid Somatic Phase_I WXS targeted Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr18:48591918C>T ENST00000342988.3 + 9 1619 c.1081C>T c.(1081-1083)Cgc>Tgc p.R361C SMAD4_ENST00000588745.1_Missense_Mutation_p.R265C|SMAD4_ENST00000398417.2_Missense_Mutation_p.R361C NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 p.0?(36)|p.R361C(3)|p.R361S(2)|p.?(2) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) TGGAGGAGATCGCTTTTGTTT 0.413000 43 Whole gene deletion(36)|Substitution - Missense(5)|Unknown(2) GRCh37 CM040450|CM041789|CM981228 SMAD4 M rs80338963 SO:0001583 missense ENST00000342988.3 1 1 hg19 CCDS11950.1 . . . . . . . . . . C 27.300000 4.820743 0.908730 . . ENSG00000141646 ENST00000342988;ENST00000544926;ENST00000398417 D;D 0.98164 -4.76;-4.76 5.860000 5.860000 0.939800 SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3); 0.000000 0.85682 D 0.000000 D 0.99275 0.9747 M 0.94021 3.485 0.807220 A 1.000000 D 0.89917 1.0 D 0.97110 1.0 D 0.99157 1.0860 9 0.87932 D 0 . 18.964600 0.926910 0.0:1.0:0.0:0.0 . 361 Q13485 SMAD4_HUMAN C 361 ENSP00000341551:R361C;ENSP00000381452:R361C ENSP00000341551:R361C R + 1 0 SMAD4 46845916 1 0.714170 1.000000 0.803570 0.998000 0.957120 4.718000 0.619300 2.771000 0.953190 0.563000 0.778840 CGC TCGA-3A-A9IX-01A-11D-A40W-08 SMAD4-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255993.3 0 0 0 10 289 0 90 0 7.954160e-01 1 87 0 90 2 1 9.999948e-01 11 789 0 689 2 1 9.968003e-01 10 285 0 86 2 -3.130658 1 1 0 0 1 0 1 1 1.992419 0 0.100000 2 0.092284 0.670000 0.340000 1.000000 1.000000 0.690535 0.670000 0 0.490000 0.900000 SLC7A9 11136 broad.mit.edu 37 19 33334838 33334838 + Missense_Mutation SNP G G A rs121908484 TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr19:33334838G>A ENST00000023064.4 - 10 1188 c.997C>T c.(997-999)Cgg>Tgg p.R333W SLC7A9_ENST00000587772.1_Missense_Mutation_p.R333W|SLC7A9_ENST00000590341.1_Missense_Mutation_p.R333W NM_001126335.1|NM_001243036.1|NM_014270.4 NP_001119807.1|NP_001229965.1|NP_055085.1 P82251 BAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) TGACCCTCCCGGCCCGCCACG 0.567000 GBM(181;1335 2108 9644 44178 46689) 0 GRCh37 CM010449 SLC7A9 M rs121908484 SO:0001583 missense ENST00000023064.4 0 1 hg19 CCDS12425.1 . . . . . . . . . . G 17.820000 3.484195 0.639620 2.27E-4 1.16E-4 ENSG00000021488 ENST00000023064 D 0.91792 -2.91 5.370000 3.170000 0.364340 Amino acid permease domain (1); 0.000000 0.85682 D 0.000000 D 0.96806 0.8957 M 0.93808 3.46 0.807220 A 1.000000 D;D 0.89917 1.0;1.0 D;D 0.91635 0.999;0.999 D 0.98100 1.0414 9 0.87932 D 0 . 13.985400 0.643310 0.0:0.0:0.7234:0.2766 . 333;333 Q53FY4;P82251 .;BAT1_HUMAN W 333 ENSP00000023064:R333W ENSP00000023064:R333W R - 1 2 SLC7A9 38026678 1 0.714170 0.997000 0.539660 0.663000 0.391080 3.879000 0.561380 0.597000 0.298110 -0.182000 0.129630 CGG TCGA-3A-A9IX-01A-11D-A40W-08 SLC7A9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000450585.1 0 0 0 5 203 0 49 0 0 0 0 49 2 0 0 0 0 0 2 1 9.307665e-01 5 194 0 48 2 -6.435171 1 1 121412 11 40 1 1 2 3 2.007608 0 0.100000 2 0.107143 0.560000 0.200000 1.000000 1.000000 0.604751 0.560000 0 0.340000 0.990000 ALDH16A1 126133 broad.mit.edu 37 19 49964157 49964157 + Splice_Site SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr19:49964157G>A ENST00000293350.4 + 5 740 c.e5+1 CTD-3148I10.9_ENST00000599536.1_5'Flank|ALDH16A1_ENST00000540132.1_Splice_Site|ALDH16A1_ENST00000455361.2_Splice_Site|ALDH16A1_ENST00000433981.2_Splice_Site NM_153329.3 NP_699160.2 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 20 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) CTGGCTGTGGGTAAATGATGG 0.557000 0 SO:0001630 splice_region_variant ENST00000293350.4 1 1 hg19 CCDS12766.1 . . . . . . . . . . G 20.300000 3.966777 0.741310 . . ENSG00000161618 ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981 . . . 5.380000 5.380000 0.774910 . . . . . . . . . . . 0.807220 D 1.000000 . . . . . . . . . . . . . . 15.027600 0.716820 0.0:0.0:1.0:0.0 . . . . . -1 . . . + . . ALDH16A1 54655969 1 0.714170 0.999000 0.593770 0.988000 0.763860 3.134000 0.505380 2.704000 0.923520 0.585000 0.799380 . TCGA-3A-A9IX-01A-11D-A40W-08 ALDH16A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000465358.1 0 0 0 10 309 1 94 1 1.177558e-02 3 2 1 94 2 0 0 0 0 0 2 0 3.247227e-01 10 306 1 92 13 -3.578888 1 1 0 0 1 1 2 3 2.021362 0 0.100000 2 0.110232 0.700000 0.340000 1.000000 1.000000 0.724217 0.700000 0 0.490000 1.000000 POLD1 5424 broad.mit.edu 37 19 50909518 50909518 + Missense_Mutation SNP C C T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr19:50909518C>T ENST00000440232.2 + 11 1375 c.1322C>T c.(1321-1323)aCg>aTg p.T441M POLD1_ENST00000599857.1_Missense_Mutation_p.T441M|POLD1_ENST00000595904.1_Missense_Mutation_p.T441M NM_001256849.1|NM_002691.3 NP_001243778.1|NP_002682.2 P28340 DPOD1_HUMAN polymerase (DNA directed), delta 1, catalytic subunit 39 all_neural(266;0.0571) TCCAAGCAGACGGGCCGGCGG 0.622000 DNA polymerases (catalytic subunits) 0 SO:0001583 missense ENST00000440232.2 0 1 hg19 CCDS12795.1 . . . . . . . . . . C 2.450000 -0.326515 0.053500 0.0 2.33E-4 ENSG00000062822 ENST00000440232;ENST00000376930 T 0.16073 2.37 4.540000 -2.900000 0.056480 DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1); 0.206121 0.46758 N 0.000280 T 0.01835 0.0058 N 0.00061 -2.33 0.230100 N 0.998434 B;B 0.06786 0.001;0.0 B;B 0.04013 0.001;0.001 T 0.43196 -0.9406 10 0.02654 T 1 -18.2908 6.708300 0.232620 0.1254:0.5005:0.0:0.3741 . 441;441 E7EVW0;P28340 .;DPOD1_HUMAN M 441;442 ENSP00000406046:T441M ENSP00000366129:T442M T + 2 0 POLD1 55601330 9.970000e-01 0.396340 0.675000 0.299170 0.992000 0.810270 1.237000 0.326950 -0.404000 0.076100 -0.302000 0.093040 ACG TCGA-3A-A9IX-01A-11D-A40W-08 POLD1-002 KNOWN alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000464732.1 0 0 0 6 390 0 84 1 1.429178e-01 2 35 0 84 2 0 0 0 0 0 2 1 9.620938e-01 6 379 0 82 2 -2.764564 1 1 121410 10 44 1 1 2 3 2.021362 0 0.100000 2 0.110232 0.360000 0.140000 1.000000 0.300000 0.458568 0.360000 0 0.220000 1.000000 SLC27A3 11000 broad.mit.edu 37 1 153747855 153747855 + Missense_Mutation SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr1:153747855G>A ENST00000368661.3 + 1 88 c.23G>A c.(22-24)cGc>cAc p.R8H SLC27A3_ENST00000271857.2_Missense_Mutation_p.R89H|SLC27A3_ENST00000484014.1_3'UTR NM_024330.1 NP_077306.1 Q5K4L6 S27A3_HUMAN solute carrier family 27 (fatty acid transporter), member 3 14 all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CAGCGCACGCGCGCTCCCTGG 0.677000 0 SO:0001583 missense ENST00000368661.3 1 1 hg19 CCDS1053.1 . . . . . . . . . . G 18.070000 3.541870 0.651980 . . ENSG00000143554 ENST00000271857;ENST00000368661 T;T 0.62105 0.05;0.2 4.320000 4.320000 0.515710 . . . . . T 0.42810 0.1219 N 0.08118 0 0.281440 N 0.929672 D 0.76494 0.999 P 0.56751 0.805 T 0.46965 -0.9153 9 0.87932 D 0 -3.5406 12.325600 0.550090 0.0:0.0:1.0:0.0 . 8 Q5K4L6 S27A3_HUMAN H 89;8 ENSP00000271857:R89H;ENSP00000357650:R8H ENSP00000271857:R89H R + 2 0 SLC27A3 152014479 1 0.714170 1.000000 0.803570 0.493000 0.335540 1.460000 0.352440 1.973000 0.574460 0.462000 0.415740 CGC TCGA-3A-A9IX-01A-11D-A40W-08 SLC27A3-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding 1 0 0 20 331 0 76 0 2.246043e-01 1 14 0 76 2 0 0 0 0 0 2 1 9.999946e-01 20 323 0 76 2 -19.996570 1 1 0 0 1 1 2 3 2.003783 0 0.100000 2 0.106256 0.990000 0.730000 1.000000 1.000000 0.971580 0.990000 1 0.930000 1.000000 ZNF496 84838 broad.mit.edu 37 1 247473673 247473673 + Missense_Mutation SNP T T C TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr1:247473673T>C ENST00000294753.4 - 6 1201 c.737A>G c.(736-738)tAt>tGt p.Y246C ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.Y282C NM_032752.1 NP_116141.1 Q96IT1 ZN496_HUMAN zinc finger protein 496 36 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) GAACTCTCCATAGAAGCCAGT 0.507000 0 SO:0001583 missense ENST00000294753.4 1 1 hg19 CCDS1631.1 . . . . . . . . . . T 16.370000 3.103212 0.561830 . . ENSG00000162714 ENST00000294753;ENST00000366498 T;T 0.07021 3.23;3.23 3.650000 3.650000 0.418500 Krueppel-associated box (4); 0.000000 0.38897 N 0.001537 T 0.27559 0.0677 M 0.84156 2.68 0.358510 D 0.826793 D;D 0.89917 1.0;1.0 D;D 0.91635 0.999;0.995 T 0.30090 -0.9990 10 0.56958 D 0.05 -23.0442 8.891300 0.354340 0.0:0.0:0.0:1.0 . 282;246 Q96IT1-2;Q96IT1 .;ZN496_HUMAN C 246;282 ENSP00000294753:Y246C;ENSP00000355454:Y282C ENSP00000294753:Y246C Y - 2 0 ZNF496 245540296 9.870000e-01 0.356910 0.963000 0.404240 0.966000 0.646010 3.047000 0.498540 1.672000 0.508840 0.533000 0.621200 TAT TCGA-3A-A9IX-01A-11D-A40W-08 ZNF496-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000098655.2 1 0 0 14 282 0 83 0 4.092516e-01 1 27 0 83 2 0 0 0 0 0 2 1 9.997732e-01 14 282 0 81 2 -15.967410 1 1 0 0 1 1 2 3 2.013004 0 0.100000 2 0.108470 0.990000 0.560000 1.000000 1.000000 0.910698 0.990000 1 0.760000 1.000000 MAVS 57506 broad.mit.edu 37 20 3844972 3844972 + Missense_Mutation SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr20:3844972G>A ENST00000428216.2 + 6 823 c.695G>A c.(694-696)cGt>cAt p.R232H MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Missense_Mutation_p.R91H NM_020746.4 NP_065797.2 Q7Z434 MAVS_HUMAN mitochondrial antiviral signaling protein 14 CCCCTGGCCCGTTCCACCCCC 0.622000 0 SO:0001583 missense ENST00000428216.2 0 1 hg19 CCDS33437.1 . . . . . . . . . . G 23.600000 4.437866 0.838850 0.0 1.16E-4 ENSG00000088888 ENST00000416600;ENST00000428216 T;T 0.55760 0.5;1.96 4.720000 4.720000 0.597630 . 0.780557 0.11868 N 0.521739 T 0.63450 0.2512 L 0.46157 1.445 0.308850 N 0.731009 D 0.76494 0.999 P 0.61003 0.882 T 0.62243 -0.6895 10 0.59425 D 0.04 -5.5757 13.426200 0.610260 0.0:0.0:1.0:0.0 . 232 Q7Z434 MAVS_HUMAN H 91;232 ENSP00000413749:R91H;ENSP00000401980:R232H ENSP00000413749:R91H R + 2 0 MAVS 3792972 9.010000e-01 0.306850 0.753000 0.312250 0.997000 0.918780 4.000000 0.570390 2.634000 0.892830 0.650000 0.862430 CGT TCGA-3A-A9IX-01A-11D-A40W-08 MAVS-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000077784.3 0 0 0 6 423 0 98 0 3.702087e-02 0 18 0 98 2 0 0 0 0 0 2 1 9.614733e-01 6 409 0 93 2 -2.467075 0 1 121410 13 43 1 1 2 3 2.000526 0 0.100000 2 0.105812 0.310000 0.120000 1.000000 0.280000 0.391332 0.310000 0 0.200000 0.520000 TMPRSS15 5651 broad.mit.edu 37 21 19653400 19653400 + Silent SNP G G A rs148756781 TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr21:19653400G>A ENST00000284885.3 - 22 2658 c.2625C>T c.(2623-2625)aaC>aaT p.N875N NM_002772.2 NP_002763 P98073 ENTK_HUMAN transmembrane protease, serine 15 85 TGGCAATGTCGTTGTCCTTTC 0.348000 0 SO:0001819 synonymous_variant ENST00000284885.3 0 1 hg19 CCDS13571.1 TCGA-3A-A9IX-01A-11D-A40W-08 TMPRSS15-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000158231.2 0 0 0 7 607 1 177 0 0 0 1 177 2 0 0 0 0 0 2 0 1.211669e-01 6 597 1 176 13 -2.506517 1 1 0 0 1 0 0 0 1.951454 0 0.100000 2 0.071207 0.230000 0.100000 0.420000 0.210000 0.246350 0.230000 0 0.150000 0.330000 KCNJ6 3763 broad.mit.edu 37 21 39087258 39087258 + Missense_Mutation SNP C C T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr21:39087258C>T ENST00000609713.1 - 3 791 c.202G>A c.(202-204)Ggc>Agc p.G68S KCNJ6-IT1_ENST00000435001.1_RNA|KCNJ6_ENST00000288309.6_Missense_Mutation_p.G68S NM_002240.3 NP_002231.1 P48051 KCNJ6_HUMAN potassium inwardly-rectifying channel, subfamily J, member 6 22 Halothane(DB01159) CTCACGTTGCCGTGATGAACA 0.488000 Pancreas(48;379 1118 2936 19024 28214) 0 SO:0001583 missense ENST00000609713.1 1 1 hg19 CCDS42927.1 . . . . . . . . . . C 20.200000 3.941544 0.735570 . . ENSG00000157542 ENST00000400482;ENST00000288309 D;D 0.93659 -3.26;-3.26 5.950000 5.950000 0.964410 Potassium channel, inwardly rectifying, Kir, conserved region 2 (1); 0.000000 0.85682 D 0.000000 D 0.96463 0.8846 M 0.69523 2.12 0.807220 D 1.000000 D 0.89917 1.0 D 0.97110 1.0 D 0.94767 0.7941 10 0.33141 T 0.24 . 20.393200 0.989650 0.0:1.0:0.0:0.0 . 68 P48051 IRK6_HUMAN S 68 ENSP00000383330:G68S;ENSP00000288309:G68S ENSP00000288309:G68S G - 1 0 KCNJ6 38009128 1 0.714170 0.994000 0.499520 0.624000 0.377220 7.818000 0.864160 2.824000 0.972090 0.655000 0.942530 GGC TCGA-3A-A9IX-01A-11D-A40W-08 KCNJ6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000194828.2 0 0 0 23 563 0 110 0 0 0 0 110 2 0 0 0 0 0 2 1 9.999992e-01 23 554 0 104 2 -2.676352 1 1 0 0 1 0 0 0 1.951454 0 0.100000 2 0.071207 0.750000 0.490000 1.000000 1.000000 0.766745 0.750000 0 0.610000 0.920000 GREB1 9687 broad.mit.edu 37 2 11772081 11772081 + Missense_Mutation SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr2:11772081G>A ENST00000381486.2 + 27 4958 c.4658G>A c.(4657-4659)cGt>cAt p.R1553H GREB1_ENST00000234142.5_Missense_Mutation_p.R1553H|GREB1_ENST00000396123.1_Missense_Mutation_p.R551H NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) ACCACCGGCCGTCACGAACAT 0.443000 Ovarian(39;850 945 2785 23371 33093) 0 SO:0001583 missense ENST00000381486.2 1 1 hg19 CCDS42655.1 . . . . . . . . . . G 24.600000 4.554458 0.862310 . . ENSG00000196208 ENST00000381486;ENST00000234142;ENST00000396123 T;T;T 0.55930 0.49;0.49;0.49 5.480000 5.480000 0.808510 . 0.000000 0.85682 D 0.000000 T 0.74230 0.3689 M 0.75615 2.305 0.807220 D 1.000000 D 0.89917 1.0 D 0.91635 0.999 T 0.76591 -0.2903 10 0.72032 D 0.01 -21.4125 19.335800 0.943190 0.0:0.0:1.0:0.0 . 1553 Q4ZG55 GREB1_HUMAN H 1553;1553;551 ENSP00000370896:R1553H;ENSP00000234142:R1553H;ENSP00000379429:R551H ENSP00000234142:R1553H R + 2 0 GREB1 11689532 1 0.714170 0.963000 0.404240 0.471000 0.328880 9.343000 0.970470 2.573000 0.868260 0.557000 0.710580 CGT TCGA-3A-A9IX-01A-11D-A40W-08 GREB1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000280490.1 1 0 0 13 287 0 92 0 2.294931e-03 0 2 0 92 2 0 0 0 0 0 2 1 9.995122e-01 12 283 0 90 2 -4.061748 1 1 0 0 1 1 2 3 2.007829 0 0.100000 2 0.107143 0.920000 0.500000 1.000000 1.000000 0.869836 0.920000 1 0.680000 1.000000 FIGN 55137 broad.mit.edu 37 2 164466403 164466403 + Nonsense_Mutation SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr2:164466403G>A ENST00000333129.3 - 3 2253 c.1939C>T c.(1939-1941)Cga>Tga p.R647* FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron NM_018086.2 NP_060556.2 Q5HY92 FIGN_HUMAN fidgetin 47 ATTAAAAGTCGTTTCATGAAG 0.443000 0 SO:0001587 stop_gained ENST00000333129.3 0 1 hg19 CCDS2221.2 . . . . . . . . . . G 39.000000 7.338110 0.982210 . . ENSG00000182263 ENST00000333129 . . . 5.770000 4.870000 0.633300 . 0.000000 0.85682 D 0.000000 . . . . . . 0.807220 D 1.000000 . . . . . . . . . . 0.02654 T 1 -24.9622 13.551800 0.617360 0.0:0.0:0.708:0.292 . . . . X 647 . ENSP00000333836:R647X R - 1 2 FIGN 164174649 1 0.714170 1.000000 0.803570 0.997000 0.918780 3.912000 0.563860 1.382000 0.463850 0.467000 0.429560 CGA TCGA-3A-A9IX-01A-11D-A40W-08 FIGN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000157220.2 0 0 0 22 356 1 53 0 8.211089e-02 0 8 1 53 2 0 0 0 0 0 2 0 4.852906e-01 22 353 1 49 23 -19.999970 1 1 0 0 1 1 2 3 2.007829 0 0.100000 2 0.107143 0.990000 0.770000 1.000000 1.000000 0.978355 0.990000 1 0.970000 1.000000 CASP10 843 broad.mit.edu 37 2 202073970 202073970 + Missense_Mutation SNP C C T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr2:202073970C>T ENST00000272879.5 + 9 1284 c.1100C>T c.(1099-1101)tCg>tTg p.S367L CASP10_ENST00000346817.5_Missense_Mutation_p.S324L|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000313728.7_Missense_Mutation_p.S300L|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000448480.1_Missense_Mutation_p.S324L|CASP10_ENST00000286186.6_Missense_Mutation_p.S367L NM_032974.4 NP_116756.2 Q92851 CASPA_HUMAN caspase 10, apoptosis-related cysteine peptidase 27 GTCTACTCTTCGGATGAGGCC 0.527000 0 SO:0001583 missense ENST00000272879.5 0 1 hg19 CCDS2338.1 . . . . . . . . . . C 17.090000 3.299455 0.601950 . . ENSG00000003400 ENST00000286186;ENST00000272879;ENST00000346817;ENST00000313728;ENST00000448480 T;T;T;T;T 0.20332 2.08;2.08;2.08;2.08;2.08 5.050000 5.050000 0.679360 Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1); 0.342415 0.29087 N 0.013181 T 0.49440 0.1557 M 0.89353 3.025 0.313270 N 0.685250 D;D;D;D;D 0.89917 0.978;1.0;1.0;0.994;0.995 P;D;D;P;P 0.72982 0.759;0.947;0.979;0.772;0.768 T 0.61242 -0.7102 10 0.52906 T 0.07 . 10.695000 0.458940 0.1465:0.7121:0.1414:0.0 . 300;324;367;324;367 Q92851-6;Q92851-5;Q92851;Q92851-2;Q92851-4 .;.;CASPA_HUMAN;.;. L 367;367;324;300;324 ENSP00000286186:S367L;ENSP00000272879:S367L;ENSP00000237865:S324L;ENSP00000314599:S300L;ENSP00000396835:S324L ENSP00000272879:S367L S + 2 0 CASP10 201782215 0 0.058580 0.017000 0.161240 0.020000 0.101350 0.844000 0.276540 2.361000 0.800490 0.650000 0.862430 TCG TCGA-3A-A9IX-01A-11D-A40W-08 CASP10-002 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000256273.1 0 0 0 8 484 0 82 1 1.013487e-01 2 27 0 82 2 0 0 0 0 0 2 1 9.887528e-01 8 477 0 79 2 -2.756312 1 1 121412 1 32 1 1 2 3 2.019140 0 0.100000 2 0.109792 0.370000 0.160000 1.000000 0.330000 0.466462 0.370000 0 0.250000 1.000000 PID1 55022 broad.mit.edu 37 2 229890686 229890686 + Missense_Mutation SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr2:229890686G>A ENST00000354069.6 - 3 445 c.415C>T c.(415-417)Cgg>Tgg p.R139W PID1_ENST00000482518.2_Intron|PID1_ENST00000392054.3_Missense_Mutation_p.R137W|PID1_ENST00000409462.1_Missense_Mutation_p.R57W|PID1_ENST00000392055.3_Missense_Mutation_p.R106W Q7Z2X4 PCLI1_HUMAN phosphotyrosine interaction domain containing 1 26 Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171) TGGAATGGCCGGATTTCCAGG 0.567000 0 SO:0001583 missense ENST00000354069.6 1 1 hg19 . . . . . . . . . . G 20.600000 4.010246 0.750460 . . ENSG00000153823 ENST00000392054;ENST00000409462;ENST00000392055;ENST00000542363;ENST00000354069 . . . 5.550000 5.550000 0.834470 Pleckstrin homology-type (1); 0.124895 0.56097 D 0.000030 T 0.68622 0.3021 L 0.36672 1.1 0.584320 D 0.999999 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.91635 0.968;0.968;0.999;0.998 T 0.64508 -0.6391 8 . . . -10.0864 18.864200 0.922850 0.0:0.0:1.0:0.0 . 57;106;137;139 Q7Z2X4-3;Q7Z2X4-4;Q7Z2X4-2;Q7Z2X4 .;.;.;PCLI1_HUMAN W 137;57;106;139;139 . . R - 1 2 PID1 229598930 1 0.714170 0.994000 0.499520 0.952000 0.607820 7.240000 0.781920 2.768000 0.951710 0.655000 0.942530 CGG TCGA-3A-A9IX-01A-11D-A40W-08 PID1-005 KNOWN basic protein_coding protein_coding OTTHUMT00000331810.2 1 0 0 14 252 0 45 0 8.276573e-01 1 59 0 45 2 0 0 0 0 0 2 1 9.997579e-01 13 250 0 45 2 -3.076744 1 1 121410 2 33 1 1 2 3 2.019140 0 0.100000 2 0.109792 0.990000 0.630000 1.000000 1.000000 0.946587 0.990000 1 0.850000 1.000000 CNTN6 27255 broad.mit.edu 37 3 1418745 1418745 + Missense_Mutation SNP G G A rs140014929 TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr3:1418745G>A ENST00000446702.2 + 17 2779 c.2152G>A c.(2152-2154)Gtc>Atc p.V718I CNTN6_ENST00000350110.2_Missense_Mutation_p.V718I|CNTN6_ENST00000539053.1_Missense_Mutation_p.V646I Q9UQ52 CNTN6_HUMAN contactin 6 p.V718I(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) GTCTGAACTCGTCATTACGTG 0.373000 2 Substitution - Missense(2) SO:0001583 missense ENST00000446702.2 1 1 hg19 CCDS2557.1 . . . . . . . . . . G 13.960000 2.392335 0.424100 2.27E-4 1.16E-4 ENSG00000134115 ENST00000446702;ENST00000539053;ENST00000350110 T;T;T 0.53857 0.6;0.6;0.6 5.760000 -0.130000 0.134980 Fibronectin, type III (3);Immunoglobulin-like fold (1); 0.235772 0.29684 N 0.011465 T 0.40372 0.1114 L 0.43152 1.355 0.443950 D 0.997306 B 0.15930 0.015 B 0.10450 0.005 T 0.20405 -1.0276 10 0.32370 T 0.25 . 11.084600 0.480800 0.3437:0.0:0.6563:0.0 . 718 Q9UQ52 CNTN6_HUMAN I 718;646;718 ENSP00000407822:V718I;ENSP00000442791:V646I;ENSP00000341882:V718I ENSP00000341882:V718I V + 1 0 CNTN6 1393745 1 0.714170 0.989000 0.466690 0.998000 0.957120 3.636000 0.543170 0.098000 0.175220 0.655000 0.942530 GTC TCGA-3A-A9IX-01A-11D-A40W-08 CNTN6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000239235.2 0 0 0 14 409 0 55 0 0 0 0 55 2 0 0 0 0 0 2 1 9.997472e-01 14 405 0 54 2 -13.100220 1 1 121412 8 43 1 1 2 3 2.017085 0 0.100000 2 0.109352 0.720000 0.390000 1.000000 1.000000 0.742233 0.720000 0 0.530000 1.000000 SI 6476 broad.mit.edu 37 3 164786914 164786914 + Missense_Mutation SNP C C T rs149498200 TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr3:164786914C>T ENST00000264382.3 - 4 387 c.325G>A c.(325-327)Gtt>Att p.V109I NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284)|Scopolamine(DB00747) TGATTATCAACGAAGAAGCAC 0.363000 HNSCC(35;0.089) 0 SO:0001583 missense ENST00000264382.3 1 1 hg19 CCDS3196.1 . . . . . . . . . . C 13.140000 2.146805 0.379230 4.54E-4 0.0 ENSG00000090402 ENST00000264382 D 0.85171 -1.95 5.910000 5.910000 0.952730 Glycoside hydrolase-type carbohydrate-binding (1);P-type trefoil (3); 0.720617 0.14150 N 0.338066 T 0.82116 0.4967 L 0.57536 1.79 0.093100 N 1.000000 P 0.35363 0.497 B 0.30029 0.11 T 0.77469 -0.2576 10 0.66056 D 0.02 . 13.020100 0.587810 0.2008:0.7992:0.0:0.0 . 109 P14410 SUIS_HUMAN I 109 ENSP00000264382:V109I ENSP00000264382:V109I V - 1 0 SI 166269608 5.000000e-03 0.159910 0.209000 0.236190 0.343000 0.289850 1.081000 0.307910 2.802000 0.963970 0.655000 0.942530 GTT TCGA-3A-A9IX-01A-11D-A40W-08 SI-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000350116.1 1 0 0 20 199 0 46 0 0 0 0 46 2 0 0 0 0 0 2 1 9.999956e-01 20 195 0 45 2 -8.339670 1 1 121392 7 41 1 1 2 3 2.011289 0 0.100000 2 0.108028 0.990000 0.990000 1.000000 1.000000 0.999612 0.990000 1 0.990000 1.000000 MST1R 4486 broad.mit.edu 37 3 49932714 49932714 + Missense_Mutation SNP G G A rs144584611 TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr3:49932714G>A ENST00000296474.3 - 14 3184 c.3157C>T c.(3157-3159)Cgg>Tgg p.R1053W MST1R_ENST00000344206.4_Missense_Mutation_p.R1004W NM_002447.2 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 37 GACTCTTTCCGCAGCAGTGGC 0.567000 0 SO:0001583 missense ENST00000296474.3 0 1 hg19 CCDS2807.1 . . . . . . . . . . g 13.760000 2.332890 0.412970 . . ENSG00000164078 ENST00000296474;ENST00000344206 T;T 0.10288 2.89;2.89 5.840000 1.710000 0.243560 . 0.615148 0.17959 N 0.156241 T 0.18173 0.0436 M 0.61703 1.905 0.093100 N 1.000000 D 0.71674 0.998 P 0.53185 0.72 T 0.04065 -1.0980 10 0.62326 D 0.03 -2.2724 8.085200 0.307690 0.1508:0.0:0.6705:0.1787 . 1053 Q04912 RON_HUMAN W 1053;1004 ENSP00000296474:R1053W;ENSP00000341325:R1004W ENSP00000296474:R1053W R - 1 2 MST1R 49907718 0 0.058580 0.363000 0.258750 0.029000 0.119000 0.091000 0.150460 0.826000 0.346610 -0.215000 0.126440 CGG TCGA-3A-A9IX-01A-11D-A40W-08 MST1R-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000345403.1 0 0 0 8 716 0 166 0 9.558859e-02 0 41 0 166 2 0 0 0 0 0 2 1 9.887909e-01 8 707 0 161 2 -2.415515 0 1 121410 14 47 1 1 2 3 2.017085 0 0.100000 2 0.109352 0.250000 0.110000 1.000000 0.220000 0.366250 0.250000 0 0.160000 0.530000 WDR82 80335 broad.mit.edu 37 3 52292632 52292632 + Missense_Mutation SNP C C A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 C A C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr3:52292632C>A ENST00000296490.3 - 8 1113 c.832G>T c.(832-834)Gat>Tat p.D278Y NM_025222.3 NP_079498.2 Q6UXN9 WDR82_HUMAN WD repeat domain 82 TGTTTACCATCCAACACAGCT 0.448000 0 SO:0001583 missense ENST00000296490.3 1 1 hg19 CCDS2851.2 . . . . . . . . . . C 21.400000 4.143216 0.778880 . . ENSG00000164091 ENST00000296490 T 0.18502 2.21 5.870000 5.870000 0.943060 WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1); 0.000000 0.85682 D 0.000000 T 0.30103 0.0754 L 0.31065 0.9 0.807220 D 1.000000 P 0.45531 0.86 P 0.57009 0.811 T 0.00708 -1.1600 10 0.66056 D 0.02 -12.5223 20.195700 0.982420 0.0:1.0:0.0:0.0 . 278 Q6UXN9 WDR82_HUMAN Y 278 ENSP00000296490:D278Y ENSP00000296490:D278Y D - 1 0 WDR82 52267672 1 0.714170 1.000000 0.803570 0.995000 0.863560 7.581000 0.825350 2.780000 0.956700 0.563000 0.778840 GAT TCGA-3A-A9IX-01A-11D-A40W-08 WDR82-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000317919.1 1 0 0 31 490 0 87 1 9.974851e-01 7 139 0 87 2 0 0 0 0 0 2 1 1 31 482 0 85 2 -6.673204 1 1 0 0 1 1 2 3 2.017085 0 0.100000 2 0.109352 0.990000 0.840000 1.000000 1.000000 0.988995 0.990000 1 0.990000 1.000000 ROBO2 6092 broad.mit.edu 37 3 77600066 77600066 + Missense_Mutation SNP C C T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr3:77600066C>T ENST00000461745.1 + 8 2057 c.1157C>T c.(1156-1158)gCg>gTg p.A386V ROBO2_ENST00000487694.3_Missense_Mutation_p.A402V|ROBO2_ENST00000332191.8_Missense_Mutation_p.A386V NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 117 CGTTCCGACGCGGGTTACTAC 0.473000 0 SO:0001583 missense ENST00000461745.1 0 1 hg19 CCDS43109.1 . . . . . . . . . . C 14.000000 2.406025 0.427150 . . ENSG00000185008 ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467 T;T;T 0.68479 -0.33;-0.33;-0.33 5.490000 4.550000 0.560140 Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.000000 0.45606 D 0.000351 T 0.75072 0.3800 L 0.50919 1.6 0.397180 D 0.971425 D;D;D 0.69078 0.995;0.997;0.995 D;D;D 0.67231 0.938;0.942;0.95 T 0.72398 -0.4306 9 0.26408 T 0.33 . 16.073300 0.809510 0.0:0.866:0.134:0.0 . 402;386;386 Q19AB5;F8W703;Q9HCK4 .;.;ROBO2_HUMAN V 402;402;406;386;386;107 ENSP00000417335:A402V;ENSP00000417164:A386V;ENSP00000327536:A386V ENSP00000327536:A386V A + 2 0 ROBO2 77682756 1 0.714170 0.225000 0.238940 0.113000 0.197640 6.001000 0.706850 2.742000 0.940160 0.591000 0.815410 GCG TCGA-3A-A9IX-01A-11D-A40W-08 ROBO2-002 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000352600.2 1 0 0 15 284 0 26 0 2.992233e-03 0 2 0 26 2 0 0 0 0 0 2 1 9.998439e-01 14 274 0 24 2 -3.221883 1 1 120850 17 44 1 1 2 3 2.023999 0 0.100000 2 0.121951 0.990000 0.630000 1.000000 1.000000 0.945664 0.990000 1 0.840000 1.000000 FAM71B 153745 broad.mit.edu 37 5 156592698 156592698 + Missense_Mutation SNP C C A rs146865558 TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr5:156592698C>A ENST00000302938.4 - 1 577 c.482G>T c.(481-483)cGg>cTg p.R161L NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B p.R161L(1) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GAGATCTTCCCGTGTGTCAGA 0.498000 1 Substitution - Missense(1) SO:0001583 missense ENST00000302938.4 1 1 hg19 CCDS4335.1 . . . . . . . . . . C 15.630000 2.888978 0.520140 . . ENSG00000170613 ENST00000302938 T 0.17054 2.3 4.560000 4.560000 0.562230 . 0.345278 0.24813 N 0.035395 T 0.36853 0.0982 M 0.62154 1.92 0.093100 N 1.000000 D 0.65815 0.995 D 0.69479 0.964 T 0.06807 -1.0806 10 0.54805 T 0.06 -3.8761 13.561900 0.617950 0.0:1.0:0.0:0.0 . 161 Q8TC56 FA71B_HUMAN L 161 ENSP00000305596:R161L ENSP00000305596:R161L R - 2 0 FAM71B 156525276 2.700000e-02 0.192310 0.010000 0.147220 0.624000 0.377220 1.032000 0.301780 2.469000 0.834160 0.655000 0.942530 CGG TCGA-3A-A9IX-01A-11D-A40W-08 FAM71B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252570.2 0 0 0 15 592 0 127 0 0 0 0 127 2 0 0 0 0 0 2 1 9.998501e-01 15 580 0 125 2 -1.667355 0 1 0 0 1 1 2 3 2.004622 0 0.100000 2 0.106700 0.520000 0.290000 1.000000 0.500000 0.578811 0.520000 0 0.390000 0.760000 RELN 5649 broad.mit.edu 37 7 103474008 103474008 + Missense_Mutation SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr7:103474008G>A ENST00000428762.1 - 3 608 c.449C>T c.(448-450)gCg>gTg p.A150V RELN_ENST00000343529.5_Missense_Mutation_p.A150V|RELN_ENST00000424685.2_Missense_Mutation_p.A150V NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 227 GCCTGTGCCCGCAGGTGGAGC 0.473000 NSCLC(146;835 1944 15585 22231 52158) 0 SO:0001583 missense ENST00000428762.1 1 1 hg19 CCDS47680.1 . . . . . . . . . . G 21.600000 4.172734 0.784520 . . ENSG00000189056 ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171 T;T;T 0.28454 1.61;1.61;1.61 5.330000 5.330000 0.759180 Reeler domain (2); 0.060775 0.64402 D 0.000002 T 0.31513 0.0799 N 0.14661 0.345 0.547530 D 0.999989 D;D 0.56035 0.968;0.974 P;P 0.50708 0.516;0.648 T 0.19549 -1.0302 10 0.72032 D 0.01 . 19.393100 0.945920 0.0:0.0:1.0:0.0 . 150;150 P78509-2;P78509 .;RELN_HUMAN V 150 ENSP00000392423:A150V;ENSP00000345694:A150V;ENSP00000388446:A150V ENSP00000345694:A150V A - 2 0 RELN 103261244 1 0.714170 0.875000 0.343270 0.980000 0.705560 5.819000 0.692430 2.634000 0.892830 0.650000 0.862430 GCG TCGA-3A-A9IX-01A-11D-A40W-08 RELN-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000348148.1 1 0 0 13 248 0 33 0 9.889227e-02 0 10 0 33 2 0 0 0 0 0 2 1 9.995367e-01 13 245 0 32 2 -3.200436 1 1 121408 1 30 1 0 0 0 1.975038 0 0.100000 2 0.082569 0.960000 0.550000 1.000000 1.000000 0.896708 0.960000 1 0.730000 1.000000 ATP6V0A4 50617 broad.mit.edu 37 7 138434008 138434008 + Missense_Mutation SNP C C A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr7:138434008C>A ENST00000310018.2 - 12 1366 c.1084G>T c.(1084-1086)Gcc>Tcc p.A362S ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.A362S|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.A362S NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 36 GTGGGAGGGGCTGTTTTAGAT 0.453000 0 SO:0001583 missense ENST00000310018.2 0 1 hg19 CCDS5849.1 . . . . . . . . . . C 5.791000 0.330340 0.109560 . . ENSG00000105929 ENST00000310018;ENST00000393054;ENST00000353492 D;D;D 0.85629 -2.01;-2.01;-2.01 5.130000 4.040000 0.470220 . 0.458554 0.21405 N 0.075080 T 0.76572 0.4006 N 0.20445 0.575 0.294150 N 0.860951 B 0.28584 0.216 B 0.34038 0.174 T 0.69412 -0.5152 10 0.25751 T 0.34 -4.7235 14.501700 0.677270 0.0:0.9161:0.0:0.0839 . 362 Q9HBG4 VPP4_HUMAN S 362 ENSP00000308122:A362S;ENSP00000376774:A362S;ENSP00000253856:A362S ENSP00000308122:A362S A - 1 0 ATP6V0A4 138084548 9.850000e-01 0.353260 0.722000 0.306700 0.078000 0.173710 0.936000 0.289380 2.398000 0.815610 0.561000 0.740990 GCC TCGA-3A-A9IX-01A-11D-A40W-08 ATP6V0A4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000347514.1 0 0 0 9 515 0 144 0 0 0 1 0 144 2 0 0 0 0 0 2 1 9.941926e-01 10 512 0 138 2 -2.633148 1 1 0 0 1 0 0 0 1.975038 0 0.100000 2 0.082569 0.340000 0.170000 0.600000 0.340000 0.365108 0.340000 0 0.240000 0.470000 SDK1 221935 broad.mit.edu 37 7 4119186 4119186 + Silent SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr7:4119186G>A ENST00000404826.2 + 22 3433 c.3294G>A c.(3292-3294)acG>acA p.T1098T SDK1_ENST00000389531.3_Silent_p.T1098T NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) ACGGGAAAACGTCCATCTCCA 0.572000 0 SO:0001819 synonymous_variant ENST00000404826.2 0 1 hg19 CCDS34590.1 TCGA-3A-A9IX-01A-11D-A40W-08 SDK1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000323702.1 0 0 0 7 475 0 108 0 7.243544e-02 0 26 0 108 2 0 0 0 0 0 2 1 9.792567e-01 7 465 0 108 2 -2.889120 1 1 121412 8 47 1 1 2 3 2.065582 0 0.100000 2 0.119804 0.360000 0.140000 1.000000 0.290000 0.492967 0.360000 0 0.230000 1.000000 CSMD1 64478 broad.mit.edu 37 8 3263557 3263557 + Missense_Mutation SNP C C T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr8:3263557C>T ENST00000520002.1 - 16 2816 c.2261G>A c.(2260-2262)cGc>cAc p.R754H CSMD1_ENST00000542608.1_Missense_Mutation_p.R753H|CSMD1_ENST00000602557.1_Missense_Mutation_p.R754H|CSMD1_ENST00000537824.1_Missense_Mutation_p.R753H|CSMD1_ENST00000400186.3_Missense_Mutation_p.R754H|CSMD1_ENST00000602723.1_Missense_Mutation_p.R754H|CSMD1_ENST00000539096.1_Missense_Mutation_p.R753H Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) ACCTTCACAGCGGGGCACGGT 0.532000 0 SO:0001583 missense ENST00000520002.1 0 1 hg19 . . . . . . . . . . C 31.000000 5.072882 0.939500 . . ENSG00000183117 ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096 T;T;T;T;T 0.65178 -0.14;-0.14;-0.14;-0.14;-0.14 5.360000 5.360000 0.768440 Complement control module (2);Sushi/SCR/CCP (3); 0.000000 0.85682 D 0.000000 T 0.72309 0.3444 L 0.42008 1.315 0.807220 D 1.000000 D;D 0.89917 1.0;1.0 D;D 0.85130 0.997;0.994 T 0.65364 -0.6186 10 0.15066 T 0.55 . 19.090600 0.932250 0.0:1.0:0.0:0.0 . 754;754 E5RIG2;Q96PZ7 .;CSMD1_HUMAN H 754;754;616;753;753;753 ENSP00000383047:R754H;ENSP00000430733:R754H;ENSP00000441462:R753H;ENSP00000446243:R753H;ENSP00000441675:R753H ENSP00000320445:R616H R - 2 0 CSMD1 3250964 1 0.714170 1.000000 0.803570 0.840000 0.476710 7.287000 0.786810 2.486000 0.839070 0.591000 0.815410 CGC TCGA-3A-A9IX-01A-11D-A40W-08 CSMD1-001 KNOWN basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000374500.2 1 0 0 11 171 0 26 0 0 0 0 26 2 0 0 0 0 0 2 1 9.983973e-01 11 169 0 25 2 -14.306650 1 1 120896 2 32 1 1 2 3 2.060781 0 0.100000 2 0.131274 0.990000 0.700000 1.000000 1.000000 0.973887 0.990000 1 0.980000 1.000000 FNBP1 23048 broad.mit.edu 37 9 132662311 132662311 + Silent SNP G G A rs138991769 by1000genomes TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr9:132662311G>A ENST00000446176.2 - 15 1806 c.1620C>T c.(1618-1620)gaC>gaT p.D540D FNBP1_ENST00000478129.1_5'UTR|FNBP1_ENST00000355681.3_Silent_p.D511D|FNBP1_ENST00000420781.1_Silent_p.D531D|FNBP1_ENST00000443566.2_Silent_p.D168D NM_015033.2 NP_055848.1 Q96RU3 FNBP1_HUMAN formin binding protein 1 Ovarian(14;0.000536) CAAACTCGTCGTCAAAATCCG 0.507000 T MLL AML Dom yes 9 9q23 23048 formin binding protein 1 (FBP17) L 0 SO:0001819 synonymous_variant ENST00000446176.2 0 1 hg19 CCDS48040.1 4 0.0018315018315018315 4 0.008130081300813009 0 0.0 0 0.0 0 0.0 G 7.682000 0.689202 0.149730 0.006121 1.19E-4 ENSG00000187239 ENST00000449089 . . . 4.980000 -4.270000 0.037440 . . . . . T 0.55049 0.1896 . . . 0.807220 D 1.000000 . . . . . . T 0.61608 -0.7028 4 . . . -27.8124 14.352100 0.667110 0.641:0.0:0.359:0.0 . . . . M 492 . . T - 2 0 FNBP1 131702132 0 0.058580 0.181000 0.230980 0.939000 0.581520 -1.892000 0.016100 -0.781000 0.045480 -0.390000 0.065200 ACG TCGA-3A-A9IX-01A-11D-A40W-08 FNBP1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054630.2 0 0 0 6 362 0 76 0 5.641922e-01 0 106 0 76 2 0 0 0 0 0 2 1 9.618739e-01 6 351 0 73 2 -1.537296 0 1 120952 90 53 1 1 2 3 2.009769 0 0.100000 2 0.107586 0.370000 0.150000 1.000000 0.330000 0.456070 0.370000 0 0.240000 0.670000 CARD9 64170 broad.mit.edu 37 9 139265516 139265516 + Missense_Mutation SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chr9:139265516G>A ENST00000371732.5 - 4 569 c.404C>T c.(403-405)gCg>gTg p.A135V CARD9_ENST00000371734.3_Missense_Mutation_p.A135V|CARD9_ENST00000315908.7_Missense_Mutation_p.A135V NM_052813.4 NP_434700.2 Q9H257 CARD9_HUMAN caspase recruitment domain family, member 9 15 Myeloproliferative disorder(178;0.0511) GCTCAGCAGCGCGGTCAGGTC 0.612000 0 SO:0001583 missense ENST00000371732.5 1 1 hg19 CCDS6997.1 . . . . . . . . . . G 5.443000 0.266829 0.102940 . . ENSG00000187796 ENST00000371734;ENST00000371732;ENST00000315908 T;T;T 0.35421 1.31;1.31;1.31 4.720000 1.270000 0.214890 . 0.911173 0.09365 N 0.812180 T 0.19446 0.0467 N 0.17838 0.53 0.093100 N 1.000000 B;B;B;B 0.20261 0.043;0.003;0.01;0.01 B;B;B;B 0.14578 0.011;0.008;0.002;0.002 T 0.24657 -1.0154 10 0.30078 T 0.28 -20.6527 2.460500 0.045400 0.297:0.0:0.2608:0.4422 . 31;135;135;135 B4DIK5;Q9H257-2;Q5SXM5;Q9H257 .;.;.;CARD9_HUMAN V 135 ENSP00000360799:A135V;ENSP00000360797:A135V;ENSP00000323719:A135V ENSP00000323719:A135V A - 2 0 CARD9 138385337 0 0.058580 0.178000 0.230400 0.090000 0.182700 0.365000 0.203480 0.393000 0.252030 -0.253000 0.114240 GCG TCGA-3A-A9IX-01A-11D-A40W-08 CARD9-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055053.1 0 0 0 11 147 0 60 0 2.557842e-01 0 13 0 60 2 0 0 0 0 0 2 1 9.983553e-01 11 144 0 60 2 -15.422610 1 1 121150 6 35 1 1 2 3 2.009769 0 0.100000 2 0.107586 0.990000 0.770000 1.000000 1.000000 0.983632 0.990000 1 0.990000 1.000000 CENPI 2491 broad.mit.edu 37 X 100357364 100357364 + Missense_Mutation SNP G G T TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chrX:100357364G>T ENST00000372927.1 + 3 605 c.328G>T c.(328-330)Gat>Tat p.D110Y CENPI_ENST00000218507.5_Missense_Mutation_p.D110Y|CENPI_ENST00000372926.1_Missense_Mutation_p.D110Y|CENPI_ENST00000423383.1_Missense_Mutation_p.D110Y NM_006733.2 NP_006724.2 Q92674 CENPI_HUMAN centromere protein I 30 AGAAGAAATTGATATTCTATT 0.313000 0 SO:0001583 missense ENST00000372927.1 0 1 hg19 CCDS14479.1 . . . . . . . . . . G 13.900000 2.375305 0.421050 . . ENSG00000102384 ENST00000423383;ENST00000218507;ENST00000372926;ENST00000372927 . . . 5.170000 5.170000 0.711590 . 0.166479 0.56097 D 0.000022 T 0.72145 0.3424 M 0.73598 2.24 0.415110 D 0.988343 P;P 0.36144 0.539;0.539 P;P 0.48704 0.587;0.587 T 0.74780 -0.3549 9 0.54805 T 0.06 -13.5932 12.738800 0.572390 0.0:0.1604:0.8396:0.0 . 110;110 B4DZL4;Q92674 .;CENPI_HUMAN Y 110 . ENSP00000218507:D110Y D + 1 0 CENPI 100244020 9.150000e-01 0.310590 1.000000 0.803570 0.481000 0.331890 2.439000 0.448460 2.276000 0.759620 0.538000 0.681660 GAT TCGA-3A-A9IX-01A-11D-A40W-08 CENPI-004 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000057519.1 0 0 0 8 388 0 77 0 0 0 1 0 77 2 0 0 0 0 0 2 1 9.882635e-01 8 378 0 76 2 -2.790907 1 1 0 0 1 0 1 1 0.100000 2 0.100000 0.200000 0.090000 0.370000 0.200000 0.220999 0.200000 0 0.140000 0.290000 WWC3 55841 broad.mit.edu 37 X 10102530 10102530 + Missense_Mutation SNP A A G TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chrX:10102530A>G ENST00000380861.4 + 19 3048 c.2657A>G c.(2656-2658)aAg>aGg p.K886R WWC3_ENST00000454666.1_Missense_Mutation_p.K886R NM_015691.3 NP_056506.2 Q9ULE0 WWC3_HUMAN WWC family member 3 52 AGCCTCGTGAAGGAGCGGCCC 0.547000 0 SO:0001583 missense ENST00000380861.4 1 1 hg19 CCDS14136.1 . . . . . . . . . . A 20.500000 4.002383 0.749320 . . ENSG00000047644 ENST00000380861;ENST00000454666;ENST00000543412 T;T 0.58060 0.36;0.36 5.710000 5.710000 0.891250 . 0.089123 0.85682 D 0.000000 T 0.66723 0.2818 M 0.86651 2.83 0.547530 D 0.999982 P 0.47106 0.89 P 0.48304 0.573 T 0.72646 -0.4230 9 . . . -38.9372 15.030700 0.717050 1.0:0.0:0.0:0.0 . 886 Q9ULE0 WWC3_HUMAN R 886;886;381 ENSP00000370242:K886R;ENSP00000399584:K886R . K + 2 0 WWC3 10062530 1 0.714170 0.957000 0.396320 0.066000 0.163640 8.837000 0.921100 1.932000 0.559930 0.425000 0.283300 AAG TCGA-3A-A9IX-01A-11D-A40W-08 WWC3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055725.1 1 0 1 46 379 0 121 1 9.463763e-01 9 33 0 121 2 0 0 0 0 0 2 1 9.999982e-01 45 372 1 119 13 -20.000000 1 1 0 0 1 0 1 1 0.100000 2 0.100000 0.920000 0.740000 1.000000 0.990000 0.916217 0.920000 1 0.840000 0.980000 BRWD3 254065 broad.mit.edu 37 X 79971717 79971717 + Missense_Mutation SNP T T A rs146207659 TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chrX:79971717T>A ENST00000373275.4 - 20 2480 c.2264A>T c.(2263-2265)gAc>gTc p.D755V BRWD3_ENST00000473691.1_5'UTR NM_153252.4 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 87 GATTTCTATGTCACCTTTTGC 0.323000 0 SO:0001583 missense ENST00000373275.4 1 1 hg19 CCDS14447.1 . . . . . . . . . . T 23.200000 4.388054 0.829020 . . ENSG00000165288 ENST00000373275 T 0.32753 1.44 5.170000 5.170000 0.711590 . 0.093262 0.64402 D 0.000001 T 0.39384 0.1076 L 0.46614 1.455 0.807220 D 1.000000 P 0.52692 0.955 P 0.52793 0.709 T 0.10405 -1.0631 9 . . . -18.5315 14.125700 0.652190 0.0:0.0:0.0:1.0 . 755 Q6RI45 BRWD3_HUMAN V 755 ENSP00000362372:D755V . D - 2 0 BRWD3 79858373 1 0.714170 0.998000 0.565050 0.929000 0.565000 6.301000 0.727820 1.910000 0.553030 0.441000 0.289320 GAC TCGA-3A-A9IX-01A-11D-A40W-08 BRWD3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057344.1 1 0 0 15 202 0 51 1 1.652521e-01 2 8 0 51 2 0 0 0 0 0 2 1 9.998770e-01 15 199 0 51 2 -6.139802 1 0 0 0 1 0 1 1 0.100000 2 0.100000 0.670000 0.400000 0.950000 0.670000 0.682103 0.670000 0 0.520000 0.830000 BRWD3 254065 broad.mit.edu 37 X 79971738 79971738 + Missense_Mutation SNP T T A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c89b7e9-17d2-4c9c-9d18-525ec4ee555e d2d39866-9aa7-4bd7-875d-cd3f1337f21c g.chrX:79971738T>A ENST00000373275.4 - 20 2459 c.2243A>T c.(2242-2244)gAa>gTa p.E748V BRWD3_ENST00000473691.1_5'UTR NM_153252.4 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 87 AGTTCGACATTCTTCCTGTAC 0.299000 0 SO:0001583 missense ENST00000373275.4 1 1 hg19 CCDS14447.1 . . . . . . . . . . T 15.040000 2.715517 0.486220 . . ENSG00000165288 ENST00000373275 T 0.32515 1.45 5.170000 5.170000 0.711590 . 0.046697 0.85682 D 0.000000 T 0.36331 0.0963 M 0.74258 2.255 0.487620 D 0.999702 B 0.27068 0.167 B 0.29598 0.104 T 0.15636 -1.0430 9 . . . -9.7094 14.125700 0.652190 0.0:0.0:0.0:1.0 . 748 Q6RI45 BRWD3_HUMAN V 748 ENSP00000362372:E748V . E - 2 0 BRWD3 79858394 1 0.714170 1.000000 0.803570 0.851000 0.484510 4.488000 0.603000 1.910000 0.553030 0.441000 0.289320 GAA TCGA-3A-A9IX-01A-11D-A40W-08 BRWD3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057344.1 1 0 0 15 178 0 48 1 2.591098e-01 5 7 0 48 2 0 0 0 0 0 2 1 9.998788e-01 15 175 0 47 2 -6.866793 1 0 0 0 1 0 1 1 0.100000 2 0.100000 0.730000 0.440000 0.980000 0.750000 0.737319 0.730000 0 0.580000 0.890000