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 chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF AHCYL1 0 genome.wustl.edu 37 1 110561048 110561048 + Missense_Mutation SNP A A C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 1 110561048 110561048 A C SNP AHCYL1 ENST00000369799 human ensembl 74_37 +1 known missense c.1177 p.I393L 1.000 pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase - no_errors AHCYL1 HGNC ENSG00000168710 88 0 0 19 3 13.6364 POGZ 0 genome.wustl.edu 37 1 151413529 151413529 + Missense_Mutation SNP A A T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 1 151413529 151413529 A T SNP POGZ ENST00000271715 human ensembl 74_37 -1 known missense c.158 p.V53E 1.000 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 74 0 0 36 14 28 POU2F1 0 genome.wustl.edu 37 1 167385178 167385178 + RNA SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 1 167385178 167385178 G A SNP POU2F1 ENST00000367865 human ensembl 74_37 +1 known rna NULL NULL 0.479 - - - no_errors POU2F1 HGNC ENSG00000143190 20 0 0 5 4 44.4444 ATP1B1 0 genome.wustl.edu 37 1 169099314 169099314 + Missense_Mutation SNP C C A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 1 169099314 169099314 C A SNP ATP1B1 ENST00000367815 human ensembl 74_37 +1 known missense c.634 p.Q212K 1.000 pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta - no_errors ATP1B1 HGNC ENSG00000143153 106 0 0 36 11 23.4043 CACNA1E 0 genome.wustl.edu 37 1 181546939 181546939 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 1 181546939 181546939 G A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.550 p.V184M 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 24 0 0 19 3 13.6364 SLC26A9 0 genome.wustl.edu 37 1 205901913 205901913 + Missense_Mutation SNP A A T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 1 205901913 205901913 A T SNP SLC26A9 ENST00000340781 human ensembl 74_37 -1 known missense c.293 p.L98H 1.000 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A9 HGNC ENSG00000174502 98 0 0 54 4 6.89655 TRAF3IP3 0 genome.wustl.edu 37 1 209933473 209933473 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 1 209933473 209933473 G A SNP TRAF3IP3 ENST00000367024 human ensembl 74_37 +1 known missense c.89 p.R30H 0.989 NULL NULL - no_errors TRAF3IP3 HGNC ENSG00000009790 58 0 0 42 3 6.66667 SLC30A10 0 genome.wustl.edu 37 1 220091652 220091652 + Silent SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 1 220091652 220091652 C T SNP SLC30A10 ENST00000366926 human ensembl 74_37 -1 known silent c.903 p.E301 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A10 HGNC ENSG00000196660 251 0 0 78 7 8.23529 HSPG2 0 genome.wustl.edu 37 1 22199882 22199882 + Missense_Mutation SNP C C G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 1 22199882 22199882 C G SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.3779 p.G1260A 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 293 0 0 124 65 34.3915 OBSCN 0 genome.wustl.edu 37 1 228434292 228434292 + Missense_Mutation SNP C C G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 1 228434292 228434292 C G SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.3821 p.A1274G 0.014 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 169 0 0 60 50 45.4545 ARID4B 0 genome.wustl.edu 37 1 235377337 235377337 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 1 235377337 235377337 C T SNP ARID4B ENST00000264183 human ensembl 74_37 -1 known missense c.1588 p.E530K 1.000 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ENSG00000054267 75 0 0 23 10 30.303 ZNF496 0 genome.wustl.edu 37 1 247473461 247473461 + RNA SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 1 247473461 247473461 G A SNP ZNF496 ENST00000462139 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF496 HGNC ENSG00000162714 11 0 0 2 4 66.6667 ZSCAN20 0 genome.wustl.edu 37 1 33945121 33945121 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 1 33945121 33945121 C T SNP ZSCAN20 ENST00000361328 human ensembl 74_37 +1 known missense c.232 p.R78C 0.997 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN20 HGNC ENSG00000121903 82 0 0 38 6 13.6364 GRIK3 0 genome.wustl.edu 37 1 37319269 37319269 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 1 37319269 37319269 G A SNP GRIK3 ENST00000373091 human ensembl 74_37 -1 known missense c.1159 p.R387W 0.999 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 128 0 0 41 19 31.6667 MACF1 0 genome.wustl.edu 37 1 39776014 39776014 + Missense_Mutation SNP T T G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 1 39776014 39776014 T G SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.3029 p.F1010C 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 104 0 0 45 18 28.5714 RPS8 0 genome.wustl.edu 37 1 45244200 45244200 + RNA SNP G G C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 1 45244200 45244200 G C SNP RPS8 ENST00000484599 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RPS8 HGNC ENSG00000142937 111 0 0 34 10 22.7273 GTF2B 0 genome.wustl.edu 37 1 89329732 89329732 + Missense_Mutation SNP G G C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 1 89329732 89329732 G C SNP GTF2B ENST00000370500 human ensembl 74_37 -1 known missense c.190 p.P64A 1.000 prints_TFIIB pfam_TFIIB_cyclin,pfam_Znf_TFIIB,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pfscan_Znf_TFIIB,prints_TFIIB - no_errors GTF2B HGNC ENSG00000137947 142 0 0 38 13 25.4902 EBF3 0 genome.wustl.edu 37 10 131665478 131665478 + Silent SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 10 131665478 131665478 G A SNP EBF3 ENST00000355311 human ensembl 74_37 -1 known silent c.966 p.G322 0.988 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF3 HGNC ENSG00000108001 91 0 0 21 21 50 TRDMT1 0 genome.wustl.edu 37 10 17216575 17216575 + Missense_Mutation SNP G G T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 10 17216575 17216575 G T SNP TRDMT1 ENST00000377799 human ensembl 74_37 -1 known missense c.149 p.T50K 0.996 pfam_C5_MeTfrase,tigrfam_C5_MeTfrase pfam_C5_MeTfrase,prints_C5_MeTfrase,tigrfam_C5_MeTfrase - no_errors TRDMT1 HGNC ENSG00000107614 136 0 0 36 7 16.2791 CCAR1 0 genome.wustl.edu 37 10 70496773 70496773 + Missense_Mutation SNP C C A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 10 70496773 70496773 C A SNP CCAR1 ENST00000265872 human ensembl 74_37 +1 known missense c.214 p.Q72K 1.000 NULL pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom - no_errors CCAR1 HGNC ENSG00000060339 68 0 0 33 11 25 CCAR1 0 genome.wustl.edu 37 10 70549535 70549535 + Missense_Mutation SNP G G C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 10 70549535 70549535 G C SNP CCAR1 ENST00000265872 human ensembl 74_37 +1 known missense c.3256 p.V1086L 1.000 NULL pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom - no_errors CCAR1 HGNC ENSG00000060339 74 0 0 12 2 14.2857 AIFM2 0 genome.wustl.edu 37 10 71874730 71874730 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 10 71874730 71874730 C T SNP AIFM2 ENST00000307864 human ensembl 74_37 -1 known missense c.916 p.V306M 0.997 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2,prints_Rng_hydrolase-like - no_errors AIFM2 HGNC ENSG00000042286 57 0 0 23 16 41.0256 KIAA1377 0 genome.wustl.edu 37 11 101849101 101849101 + Nonsense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 11 101849101 101849101 C T SNP KIAA1377 ENST00000263468 human ensembl 74_37 +1 known nonsense c.2869 p.R957* 0.323 NULL NULL - no_errors KIAA1377 HGNC ENSG00000110318 389 0 0 81 7 7.95455 CASP4 0 genome.wustl.edu 37 11 104819260 104819260 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 11 104819260 104819260 G A SNP CASP4 ENST00000444739 human ensembl 74_37 -1 known missense c.925 p.H309Y 1.000 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_p10 pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP4 HGNC ENSG00000196954 71 0 0 30 6 16.6667 TMPRSS13 0 genome.wustl.edu 37 11 117780642 117780642 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 11 117780642 117780642 C T SNP TMPRSS13 ENST00000445164 human ensembl 74_37 -1 known missense c.988 p.A330T 0.666 pirsf_Peptidase_S1A_TMPRSS13,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Peptidase_S1A_TMPRSS13,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_SRCR,pfscan_Peptidase_S1 - no_errors TMPRSS13 HGNC ENSG00000137747 85 0 0 48 14 22.5806 C11orf63 0 genome.wustl.edu 37 11 122817220 122817220 + Missense_Mutation SNP C C G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 11 122817220 122817220 C G SNP C11orf63 ENST00000227349 human ensembl 74_37 +1 known missense c.1649 p.S550C 0.016 NULL NULL - no_errors C11orf63 HGNC ENSG00000109944 69 0 0 46 3 6.12245 TMEM45B 0 genome.wustl.edu 37 11 129725628 129725628 + Silent SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 11 129725628 129725628 C T SNP TMEM45B ENST00000281441 human ensembl 74_37 +1 known silent c.411 p.H137 0.000 pfam_DUF716_TMEM45 pfam_DUF716_TMEM45 - no_errors TMEM45B HGNC ENSG00000151715 229 0 0 135 35 20.5882 KIAA1549L 0 genome.wustl.edu 37 11 33564658 33564658 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 11 33564658 33564658 C T SNP KIAA1549L ENST00000389726 human ensembl 74_37 +1 known missense c.658 p.P220S 0.000 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 209 0 0 94 5 5.05051 GLYAT 0 genome.wustl.edu 37 11 58477426 58477426 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 11 58477426 58477426 G A SNP GLYAT ENST00000344743 human ensembl 74_37 -1 known missense c.704 p.P235L 0.586 pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase - no_errors GLYAT HGNC ENSG00000149124 91 0 0 52 11 17.4603 PHRF1 0 genome.wustl.edu 37 11 601629 601629 + Missense_Mutation SNP A A T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 11 601629 601629 A T SNP PHRF1 ENST00000264555 human ensembl 74_37 +1 known missense c.1080 p.K360N 0.000 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 99 0 0 35 10 22.2222 MARK2 0 genome.wustl.edu 37 11 63666571 63666571 + Missense_Mutation SNP A A C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 11 63666571 63666571 A C SNP MARK2 ENST00000402010 human ensembl 74_37 +1 known missense c.522 p.R174S 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK2 HGNC ENSG00000072518 214 0 0 105 24 18.6047 EFEMP2 0 genome.wustl.edu 37 11 65635413 65635413 + Missense_Mutation SNP G G C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 11 65635413 65635413 G C SNP EFEMP2 ENST00000307998 human ensembl 74_37 -1 known missense c.1089 p.I363M 0.997 NULL pfam_EGF-like_Ca-bd_dom,superfamily_TIL_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors EFEMP2 HGNC ENSG00000172638 179 0 0 97 15 13.3929 EFEMP2 0 genome.wustl.edu 37 11 65635426 65635426 + Missense_Mutation SNP T T C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 11 65635426 65635426 T C SNP EFEMP2 ENST00000307998 human ensembl 74_37 -1 known missense c.1076 p.D359G 1.000 NULL pfam_EGF-like_Ca-bd_dom,superfamily_TIL_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors EFEMP2 HGNC ENSG00000172638 169 1 0.588235 99 14 12.3894 CD248 0 genome.wustl.edu 37 11 66083782 66083782 + Silent SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 11 66083782 66083782 G A SNP CD248 ENST00000311330 human ensembl 74_37 -1 known silent c.717 p.N239 0.960 smart_EG-like_dom pfam_C-type_lectin,pfam_EGF-like_Ca-bd_dom,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_C-type_lectin - no_errors CD248 HGNC ENSG00000174807 58 0 0 33 4 10.8108 PC 0 genome.wustl.edu 37 11 66639309 66639309 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 11 66639309 66639309 G A SNP PC ENST00000393958 human ensembl 74_37 -1 known missense c.170 p.T57M 1.000 pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_dom,pirsf_Pyruv_COase,pfscan_Biotin_carboxylation_dom,tigrfam_Pyruv_COase pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Carboxylase_cons_dom,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_PYR_CT,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_PYR_CT,pfscan_Biotin_lipoyl,tigrfam_Pyruv_COase - no_errors PC HGNC ENSG00000173599 26 0 0 17 8 32 KCNE3 0 genome.wustl.edu 37 11 74168442 74168442 + Missense_Mutation SNP T T A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 11 74168442 74168442 T A SNP KCNE3 ENST00000310128 human ensembl 74_37 -1 known missense c.167 p.N56I 1.000 pfam_K_chnl_volt-dep_bsu_KCNE,prints_K_chnl_volt-dep_bsu_KCNE3 pfam_K_chnl_volt-dep_bsu_KCNE,prints_K_chnl_volt-dep_bsu_KCNE3,prints_K_chnl_volt-dep_bsu_KCNE - no_errors KCNE3 HGNC ENSG00000175538 78 0 0 71 10 12.3457 TALDO1 0 genome.wustl.edu 37 11 760142 760142 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 11 760142 760142 C T SNP TALDO1 ENST00000319006 human ensembl 74_37 +1 known missense c.350 p.A117V 0.025 pfam_Transaldolase,tigrfam_Transaldolase_1 pfam_Transaldolase,tigrfam_Transaldolase_1 - no_errors TALDO1 HGNC ENSG00000177156 123 1 0.806452 41 5 10.8696 PCF11 0 genome.wustl.edu 37 11 82879823 82879823 + Missense_Mutation SNP G G T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 11 82879823 82879823 G T SNP PCF11 ENST00000298281 human ensembl 74_37 +1 known missense c.2446 p.G816W 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom - no_errors PCF11 HGNC ENSG00000165494 78 0 0 38 3 7.31707 MYBPC1 0 genome.wustl.edu 37 12 102010978 102010978 + Splice_Site SNP A A C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 12 102010978 102010978 A C SNP MYBPC1 ENST00000361466 human ensembl 74_37 +1 known splice_site c.62-2 e3-2 1.000 - - - no_errors MYBPC1 HGNC ENSG00000196091 67 0 0 14 6 30 CERS5 0 genome.wustl.edu 37 12 50561072 50561072 + Silent SNP T T A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 12 50561072 50561072 T A SNP CERS5 ENST00000317551 human ensembl 74_37 -1 known silent c.9 p.T3 0.957 NULL pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeobox_dom - no_errors CERS5 HGNC ENSG00000139624 44 0 0 54 3 5.26316 OR6C75 0 genome.wustl.edu 37 12 55759444 55759444 + Missense_Mutation SNP C C A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 12 55759444 55759444 C A SNP OR6C75 ENST00000343399 human ensembl 74_37 +1 known missense c.550 p.Q184K 0.947 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C75 HGNC ENSG00000187857 125 1 0.793651 37 35 48.6111 CNOT2 0 genome.wustl.edu 37 12 70704765 70704765 + Missense_Mutation SNP T T C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 12 70704765 70704765 T C SNP CNOT2 ENST00000229195 human ensembl 74_37 +1 known missense c.139 p.S47P 1.000 NULL pfam_NOT - no_errors CNOT2 HGNC ENSG00000111596 128 0 0 98 8 7.54717 COMMD6 0 genome.wustl.edu 37 13 76111694 76111694 + RNA SNP G G C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 13 76111694 76111694 G C SNP COMMD6 ENST00000471682 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors COMMD6 HGNC ENSG00000188243 22 0 0 6 19 76 IPO5 0 genome.wustl.edu 37 13 98652834 98652834 + Missense_Mutation SNP G G T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 13 98652834 98652834 G T SNP IPO5 ENST00000261574 human ensembl 74_37 +1 known missense c.1097 p.C366F 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N - no_errors IPO5 HGNC ENSG00000065150 136 0 0 47 43 47.7778 MIR323B 0 genome.wustl.edu 37 14 101522590 101522590 + RNA SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 14 101522590 101522590 G A SNP MIR323B ENST00000385269 human ensembl 74_37 +1 known rna NULL NULL 0.157 - - - no_errors MIR323B HGNC ENSG00000208004 52 0 0 21 4 16 AHNAK2 0 genome.wustl.edu 37 14 105417279 105417279 + Silent SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 14 105417279 105417279 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.4509 p.F1503 0.021 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 164 0 0 111 8 6.72269 HAUS4 0 genome.wustl.edu 37 14 23415837 23415837 + Missense_Mutation SNP A A G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 14 23415837 23415837 A G SNP HAUS4 ENST00000206474 human ensembl 74_37 -1 known missense c.989 p.L330P 0.849 NULL NULL - no_errors HAUS4 HGNC ENSG00000092036 63 0 0 30 6 16.6667 ACIN1 0 genome.wustl.edu 37 14 23532239 23532239 + Missense_Mutation SNP T T G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 14 23532239 23532239 T G SNP ACIN1 ENST00000262710 human ensembl 74_37 -1 known missense c.2956 p.K986Q 1.000 NULL pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom - no_errors ACIN1 HGNC ENSG00000100813 238 0 0 72 51 41.4634 AKAP6 0 genome.wustl.edu 37 14 33290766 33290766 + Silent SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 14 33290766 33290766 G A SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known silent c.3747 p.L1249 0.994 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 112 0 0 25 7 21.875 SGPP1 0 genome.wustl.edu 37 14 64194098 64194098 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 14 64194098 64194098 G A SNP SGPP1 ENST00000247225 human ensembl 74_37 -1 known missense c.565 p.P189S 1.000 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors SGPP1 HGNC ENSG00000126821 155 0 0 50 83 62.406 SYNE2 0 genome.wustl.edu 37 14 64628976 64628976 + Silent SNP A A C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 14 64628976 64628976 A C SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known silent c.16281 p.P5427 0.003 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 139 0 0 94 30 24.1935 KCNK13 0 genome.wustl.edu 37 14 90651236 90651236 + Silent SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 14 90651236 90651236 C T SNP KCNK13 ENST00000282146 human ensembl 74_37 +1 known silent c.1116 p.N372 0.658 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK13 HGNC ENSG00000152315 93 0 0 27 14 34.1463 FBLN5 0 genome.wustl.edu 37 14 92343836 92343836 + Missense_Mutation SNP T T C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 14 92343836 92343836 T C SNP FBLN5 ENST00000342058 human ensembl 74_37 -1 known missense c.1180 p.M394V 1.000 NULL pfam_EGF-like_Ca-bd_dom,superfamily_TIL_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors FBLN5 HGNC ENSG00000140092 145 0 0 34 34 50 SERPINA5 0 genome.wustl.edu 37 14 95056501 95056501 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 14 95056501 95056501 G A SNP SERPINA5 ENST00000329597 human ensembl 74_37 +1 known missense c.743 p.R248Q 0.001 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA5 HGNC ENSG00000188488 73 0 0 42 7 14.2857 MKRN3 0 genome.wustl.edu 37 15 23811198 23811198 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 15 23811198 23811198 G A SNP MKRN3 ENST00000314520 human ensembl 74_37 +1 known missense c.269 p.R90Q 0.002 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 86 0 0 34 19 35.8491 MKRN3 0 genome.wustl.edu 37 15 23811962 23811962 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 15 23811962 23811962 C T SNP MKRN3 ENST00000314520 human ensembl 74_37 +1 known missense c.1033 p.R345C 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 158 0 0 43 23 34.8485 SNHG14 0 genome.wustl.edu 37 15 25304861 25304861 + RNA SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 15 25304861 25304861 C T SNP SNHG14 ENST00000549804 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 96 0 0 23 28 54.902 GJD2 0 genome.wustl.edu 37 15 35045438 35045438 + Silent SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 15 35045438 35045438 G A SNP GJD2 ENST00000290374 human ensembl 74_37 -1 known silent c.207 p.R69 0.998 pfam_Connexin_N,smart_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin36 - no_errors GJD2 HGNC ENSG00000159248 128 0 0 46 17 26.9841 CASC5 0 genome.wustl.edu 37 15 40947114 40947114 + Missense_Mutation SNP C C A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 15 40947114 40947114 C A SNP CASC5 ENST00000346991 human ensembl 74_37 +1 known missense c.6501 p.F2167L 0.557 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 148 0 0 25 7 21.875 DNAJC17 0 genome.wustl.edu 37 15 41067260 41067260 + Missense_Mutation SNP G G C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 15 41067260 41067260 G C SNP DNAJC17 ENST00000220496 human ensembl 74_37 -1 known missense c.569 p.S190C 1.000 pfam_RRM_dom pfam_DnaJ_domain,pfam_RRM_dom,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC17 HGNC ENSG00000104129 98 0 0 24 3 11.1111 DMXL2 0 genome.wustl.edu 37 15 51766637 51766637 + Missense_Mutation SNP C C A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 15 51766637 51766637 C A SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.7117 p.A2373S 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 105 0 0 13 20 60.6061 ETFA 0 genome.wustl.edu 37 15 76578041 76578041 + Missense_Mutation SNP C C A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 15 76578041 76578041 C A SNP ETFA ENST00000557943 human ensembl 74_37 -1 known missense c.601 p.D201Y 1.000 smart_ETF_a/b_N,pirsf_ETF_a pfam_ETF_asu_C,pfam_ETF_a/b_N,smart_ETF_a/b_N,pirsf_ETF_a - no_errors ETFA HGNC ENSG00000140374 149 0 0 26 9 25.7143 KIAA1199 0 genome.wustl.edu 37 15 81230194 81230194 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 15 81230194 81230194 C T SNP KIAA1199 ENST00000220244 human ensembl 74_37 +1 known missense c.3281 p.S1094L 1.000 NULL pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC ENSG00000103888 138 0 0 59 34 36.5591 IQGAP1 0 genome.wustl.edu 37 15 91037964 91037964 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 15 91037964 91037964 G A SNP IQGAP1 ENST00000268182 human ensembl 74_37 +1 known missense c.4648 p.E1550K 0.990 pfam_RasGAP_C pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 166 0 0 60 10 14.2857 ST8SIA2 0 genome.wustl.edu 37 15 93007503 93007503 + Missense_Mutation SNP A A G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 15 93007503 93007503 A G SNP ST8SIA2 ENST00000268164 human ensembl 74_37 +1 known missense c.1016 p.Y339C 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA2 HGNC ENSG00000140557 149 0 0 190 28 12.844 ABCC6 0 genome.wustl.edu 37 16 16255324 16255324 + Missense_Mutation SNP C C G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 16 16255324 16255324 C G SNP ABCC6 ENST00000205557 human ensembl 74_37 -1 known missense c.3604 p.V1202L 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ENSG00000091262 62 0 0 23 6 20.6897 ABCC6 0 genome.wustl.edu 37 16 16255325 16255325 + Silent SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 16 16255325 16255325 G A SNP ABCC6 ENST00000205557 human ensembl 74_37 -1 known silent c.3603 p.L1201 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ENSG00000091262 63 0 0 24 6 20 RBBP6 0 genome.wustl.edu 37 16 24581590 24581590 + Silent SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 16 24581590 24581590 G A SNP RBBP6 ENST00000319715 human ensembl 74_37 +1 known silent c.3579 p.R1193 0.997 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 214 0 0 33 5 13.1579 CHST5 0 genome.wustl.edu 37 16 75564225 75564225 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 16 75564225 75564225 C T SNP CHST5 ENST00000541075 human ensembl 74_37 -1 known missense c.76 p.A26T 0.107 pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST5 HGNC ENSG00000135702 19 0 0 2 3 60 MSLNL 0 genome.wustl.edu 37 16 820288 820288 + Silent SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 16 820288 820288 G A SNP MSLNL ENST00000293892 human ensembl 74_37 -1 known silent c.2697 p.S899 0.591 pfam_Mesothelin pfam_Mesothelin - no_errors MSLNL HGNC ENSG00000162006 23 0 0 11 6 35.2941 KLHL36 0 genome.wustl.edu 37 16 84693458 84693458 + Silent SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 16 84693458 84693458 G A SNP KLHL36 ENST00000564996 human ensembl 74_37 +1 known silent c.1230 p.A410 0.036 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL36 HGNC ENSG00000135686 127 0 0 39 38 49.3506 IGF2BP1 0 genome.wustl.edu 37 17 47076502 47076502 + Missense_Mutation SNP G G C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 17 47076502 47076502 G C SNP IGF2BP1 ENST00000290341 human ensembl 74_37 +1 known missense c.207 p.E69D 1.000 smart_RRM_dom,pfscan_RRM_dom pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP1 HGNC ENSG00000159217 101 0 0 23 3 11.5385 SPATA20 0 genome.wustl.edu 37 17 48628511 48628511 + Silent SNP C C A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 17 48628511 48628511 C A SNP SPATA20 ENST00000006658 human ensembl 74_37 +1 known silent c.1536 p.P512 0.001 superfamily_6-hairpin_glycosidase-like pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold - no_errors SPATA20 HGNC ENSG00000006282 52 0 0 9 11 55 RNFT1 0 genome.wustl.edu 37 17 58040311 58040311 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 17 58040311 58040311 C T SNP RNFT1 ENST00000305783 human ensembl 74_37 -1 known missense c.391 p.A131T 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNFT1 HGNC ENSG00000189050 158 0 0 47 17 26.5625 KIF19 0 genome.wustl.edu 37 17 72350362 72350362 + Silent SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 17 72350362 72350362 G A SNP KIF19 ENST00000389916 human ensembl 74_37 +1 known silent c.2370 p.S790 0.225 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF19 HGNC ENSG00000196169 119 0 0 42 6 12.5 TP53 0 genome.wustl.edu 37 17 7577094 7577094 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 17 7577094 7577094 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.844 p.R282W 0.997 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 63 0 0 12 23 65.7143 AATK 0 genome.wustl.edu 37 17 79095615 79095615 + Silent SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 17 79095615 79095615 G A SNP AATK ENST00000326724 human ensembl 74_37 -1 known silent c.2121 p.G707 0.012 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AATK HGNC ENSG00000181409 16 0 0 9 3 25 ATP9B 0 genome.wustl.edu 37 18 77096644 77096644 + Missense_Mutation SNP G G C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 18 77096644 77096644 G C SNP ATP9B ENST00000426216 human ensembl 74_37 +1 known missense c.2045 p.R682P 0.832 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9B HGNC ENSG00000166377 59 0 0 14 8 36.3636 PPAN-P2RY11 0 genome.wustl.edu 37 19 10224526 10224526 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 19 10224526 10224526 C T SNP PPAN-P2RY11 ENST00000428358 human ensembl 74_37 +1 novel missense c.1559 p.P520L 0.749 NULL pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix - no_errors PPAN-P2RY11 HGNC ENSG00000243207 57 0 0 21 4 16 CD97 0 genome.wustl.edu 37 19 14517256 14517256 + Missense_Mutation SNP C C G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 19 14517256 14517256 C G SNP CD97 ENST00000242786 human ensembl 74_37 +1 known missense c.1935 p.F645L 0.996 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_CD97 pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt - no_errors CD97 HGNC ENSG00000123146 12 0 0 6 4 40 ILVBL 0 genome.wustl.edu 37 19 15226970 15226970 + Silent SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 19 15226970 15226970 G A SNP ILVBL ENST00000263383 human ensembl 74_37 -1 known silent c.1464 p.L488 0.002 pfam_TPP_enzyme-bd_C pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_TPP_enzyme-bd_C,pfam_Thiamin_PyroP_enz_cen_dom - no_errors ILVBL HGNC ENSG00000105135 103 0 0 50 7 12.2807 NWD1 0 genome.wustl.edu 37 19 16860087 16860087 + Missense_Mutation SNP G G C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 19 16860087 16860087 G C SNP NWD1 ENST00000379808 human ensembl 74_37 +1 known missense c.634 p.A212P 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 159 1 0.625 45 34 43.038 ENSG00000269025 0 genome.wustl.edu 37 19 22790781 22790781 + RNA SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 19 22790781 22790781 C T SNP ENSG00000269025 ENST00000598658 human ensembl 74_37 +1 known rna NULL NULL 0.122 - - - no_errors CTC-457E21.5 Clone_based_vega_gene ENSG00000269025 76 0 0 30 19 38.7755 ZNF536 0 genome.wustl.edu 37 19 30935864 30935864 + Silent SNP G G C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 19 30935864 30935864 G C SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known silent c.1395 p.A465 0.151 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 123 0 0 90 8 8.16327 CYP2F1 0 genome.wustl.edu 37 19 41627980 41627980 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 19 41627980 41627980 C T SNP CYP2F1 ENST00000331105 human ensembl 74_37 +1 known missense c.764 p.S255L 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2F1 HGNC ENSG00000197446 94 0 0 44 29 39.726 CIC 0 genome.wustl.edu 37 19 42795827 42795827 + Missense_Mutation SNP G G C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 19 42795827 42795827 G C SNP CIC ENST00000575354 human ensembl 74_37 +1 known missense c.2816 p.G939A 0.998 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 198 0 0 100 47 31.9728 GPR32 0 genome.wustl.edu 37 19 51273919 51273919 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 19 51273919 51273919 G A SNP GPR32 ENST00000270590 human ensembl 74_37 +1 known missense c.62 p.R21H 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors GPR32 HGNC ENSG00000142511 53 0 0 10 7 41.1765 VN1R2 0 genome.wustl.edu 37 19 53762763 53762763 + Missense_Mutation SNP A A C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 19 53762763 53762763 A C SNP VN1R2 ENST00000341702 human ensembl 74_37 +1 known missense c.1135 p.S379R 0.000 NULL pfam_Vmron_rcpt_1,pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R2 HGNC ENSG00000196131 205 0 0 42 17 28.8136 TNNT1 0 genome.wustl.edu 37 19 55645256 55645256 + Missense_Mutation SNP A A C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 19 55645256 55645256 A C SNP TNNT1 ENST00000588981 human ensembl 74_37 -1 known missense c.790 p.F264V 1.000 NULL pfam_Troponin - no_errors TNNT1 HGNC ENSG00000105048 123 0 0 26 8 23.5294 PEG3 0 genome.wustl.edu 37 19 57326272 57326272 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 19 57326272 57326272 C T SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.3538 p.E1180K 0.775 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 260 0 0 30 38 55.8824 ZSCAN18 0 genome.wustl.edu 37 19 58600105 58600105 + Missense_Mutation SNP C C G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 19 58600105 58600105 C G SNP ZSCAN18 ENST00000600404 human ensembl 74_37 -1 known missense c.671 p.S224T 0.023 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN18 HGNC ENSG00000121413 86 0 0 14 12 46.1538 CAPS 0 genome.wustl.edu 37 19 5914470 5914470 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 19 5914470 5914470 G A SNP CAPS ENST00000222125 human ensembl 74_37 +1 known missense c.53 p.R18H 0.375 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CAPS HGNC ENSG00000105519 114 0 0 43 5 10.4167 NEB 0 genome.wustl.edu 37 2 152483704 152483704 + Missense_Mutation SNP C C G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 2 152483704 152483704 C G SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.10159 p.D3387H 1.000 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 122 0 0 12 29 70.7317 LRP2 0 genome.wustl.edu 37 2 170072858 170072858 + Missense_Mutation SNP T T C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 2 170072858 170072858 T C SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.5731 p.K1911E 0.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 125 0 0 25 20 44.4444 TTN 0 genome.wustl.edu 37 2 179419223 179419223 + Silent SNP G G C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 2 179419223 179419223 G C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.81147 p.G27049 0.244 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 54 0 0 12 10 45.4545 MYO1B 0 genome.wustl.edu 37 2 192246260 192246260 + Missense_Mutation SNP C C A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 2 192246260 192246260 C A SNP MYO1B ENST00000304164 human ensembl 74_37 +1 known missense c.1258 p.L420I 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1B HGNC ENSG00000128641 111 0 0 18 7 28 DNAH7 0 genome.wustl.edu 37 2 196729342 196729342 + Missense_Mutation SNP C C G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 2 196729342 196729342 C G SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.7037 p.G2346A 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 124 0 0 62 6 8.82353 CCNYL1 0 genome.wustl.edu 37 2 208611776 208611776 + Silent SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 2 208611776 208611776 C T SNP CCNYL1 ENST00000295414 human ensembl 74_37 +1 known silent c.645 p.Y215 1.000 pfam_Cyclin_N,pfam_Cyclin_PHO80-like,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_Y pfam_Cyclin_N,pfam_Cyclin_PHO80-like,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_Y - no_errors CCNYL1 HGNC ENSG00000163249 128 0 0 36 13 26.5306 BIRC6 0 genome.wustl.edu 37 2 32740755 32740755 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 2 32740755 32740755 G A SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.11267 p.R3756H 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 93 0 0 48 3 5.88235 PNPT1 0 genome.wustl.edu 37 2 55874501 55874501 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 2 55874501 55874501 C T SNP PNPT1 ENST00000415374 human ensembl 74_37 -1 known missense c.1583 p.R528H 1.000 pfam_ExoRNase_PH_dom2,superfamily_ExoRNase_PH_dom2,pirsf_PNPase,tigrfam_PNPase pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,pfam_PNPase_PH_RNA-bd_bac/org-type,pfam_KH_dom_type_1,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2,superfamily_PNPase_PH_RNA-bd_bac/org-type,superfamily_NA-bd_OB-fold,smart_KH_dom,smart_RNA-binding_domain_S1,pirsf_PNPase,pfscan_KH_dom_type_1,pfscan_Rbsml_prot_S1_RNA-bd_dom,tigrfam_PNPase - no_errors PNPT1 HGNC ENSG00000138035 168 0 0 47 6 11.3208 RETSAT 0 genome.wustl.edu 37 2 85571127 85571127 + Missense_Mutation SNP C C A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 2 85571127 85571127 C A SNP RETSAT ENST00000295802 human ensembl 74_37 -1 known missense c.1528 p.G510W 1.000 NULL pfam_Amino_oxidase,pfam_FAD_bind_dom,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_mOase_FAD-bd - no_errors RETSAT HGNC ENSG00000042445 226 0 0 101 59 36.875 ANKRD36BP2 0 genome.wustl.edu 37 2 89084389 89084389 + RNA SNP G G T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 2 89084389 89084389 G T SNP ANKRD36BP2 ENST00000393515 human ensembl 74_37 +1 known rna NULL NULL 0.029 - - - no_errors ANKRD36BP2 HGNC ENSG00000230006 8 0 0 3 2 40 SIRPD 0 genome.wustl.edu 37 20 1517875 1517875 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 20 1517875 1517875 G A SNP SIRPD ENST00000381623 human ensembl 74_37 -1 known missense c.503 p.S168L 0.002 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors SIRPD HGNC ENSG00000125900 151 0 0 231 14 5.71429 PTPN1 0 genome.wustl.edu 37 20 49197803 49197803 + Missense_Mutation SNP A A G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 20 49197803 49197803 A G SNP PTPN1 ENST00000371621 human ensembl 74_37 +1 known missense c.1090 p.M364V 0.981 pirsf_Ptpn1/Ptpn2 pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN1 HGNC ENSG00000196396 83 0 0 92 5 5.15464 DIDO1 0 genome.wustl.edu 37 20 61542508 61542508 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 20 61542508 61542508 C T SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known missense c.457 p.D153N 0.923 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 111 0 0 41 40 49.3827 KCNQ2 0 genome.wustl.edu 37 20 62046361 62046361 + Missense_Mutation SNP C C G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 20 62046361 62046361 C G SNP KCNQ2 ENST00000354587 human ensembl 74_37 -1 known missense c.1336 p.E446Q 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 85 0 0 65 10 13.3333 NCAM2 0 genome.wustl.edu 37 21 22656515 22656515 + Silent SNP G G T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 21 22656515 22656515 G T SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known silent c.132 p.A44 0.974 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_Neural_cell_adh pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 116 0 0 18 11 37.931 ENSG00000161103 0 genome.wustl.edu 37 22 18844888 18844888 + RNA SNP A A G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 22 18844888 18844888 A G SNP ENSG00000161103 ENST00000412938 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AC008132.13 Clone_based_vega_gene ENSG00000161103 73 0 0 57 12 17.3913 CSF2RB 0 genome.wustl.edu 37 22 37328890 37328890 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 22 37328890 37328890 G A SNP CSF2RB ENST00000262825 human ensembl 74_37 +1 known missense c.1114 p.E372K 0.000 pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF2RB HGNC ENSG00000100368 71 0 0 20 7 25.9259 KCNJ4 0 genome.wustl.edu 37 22 38823136 38823136 + Silent SNP T T C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 22 38823136 38823136 T C SNP KCNJ4 ENST00000303592 human ensembl 74_37 -1 known silent c.1002 p.S334 0.090 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3 - no_errors KCNJ4 HGNC ENSG00000168135 66 0 0 31 4 11.4286 ADSL 0 genome.wustl.edu 37 22 40754925 40754925 + Silent SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 22 40754925 40754925 C T SNP ADSL ENST00000454266 human ensembl 74_37 +1 known silent c.582 p.C194 1.000 pfam_Fumarate_lyase_N,superfamily_L-Aspartase-like,tigrfam_Pur_lyase pfam_Fumarate_lyase_N,pfam_AdenyloSucc_lyase_C,superfamily_L-Aspartase-like,prints_Fumarate_lyase_fam,tigrfam_Pur_lyase - no_errors ADSL HGNC ENSG00000239900 130 0 0 29 29 50 PLXNB2 0 genome.wustl.edu 37 22 50717049 50717049 + Silent SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 22 50717049 50717049 G A SNP PLXNB2 ENST00000359337 human ensembl 74_37 -1 known silent c.4623 p.R1541 0.984 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB2 HGNC ENSG00000196576 39 0 0 15 11 42.3077 FAM86HP 0 genome.wustl.edu 37 3 129821679 129821679 + RNA SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 3 129821679 129821679 G A SNP FAM86HP ENST00000511564 human ensembl 74_37 -1 known rna NULL NULL 0.107 - - - no_errors FAM86HP HGNC ENSG00000253540 159 0 0 54 5 8.47458 TSC22D2 0 genome.wustl.edu 37 3 150127812 150127812 + Silent SNP G G C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 3 150127812 150127812 G C SNP TSC22D2 ENST00000361875 human ensembl 74_37 +1 known silent c.675 p.V225 1.000 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D2 HGNC ENSG00000196428 161 0 0 67 6 8.21918 GMPS 0 genome.wustl.edu 37 3 155649637 155649637 + Missense_Mutation SNP G G C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 3 155649637 155649637 G C SNP GMPS ENST00000496455 human ensembl 74_37 +1 known missense c.1644 p.R548S 1.000 pfam_GMP_synth_C pfam_GATASE,pfam_GMP_synth_C,pfam_Peptidase_C26,pfam_NAD/GMP_synthase,pfam_QueC,pfam_Asn_synthase,pfam_tRNA-specific_2-thiouridylase,tigrfam_GMP_synth_N - no_errors GMPS HGNC ENSG00000163655 294 0 0 48 24 33.3333 LINC00969 0 genome.wustl.edu 37 3 195404649 195404649 + RNA SNP A A G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 3 195404649 195404649 A G SNP LINC00969 ENST00000414625 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors LINC00969 HGNC ENSG00000242086 52 0 0 37 3 7.5 LIMD1 0 genome.wustl.edu 37 3 45677682 45677682 + Silent SNP C C G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 3 45677682 45677682 C G SNP LIMD1 ENST00000273317 human ensembl 74_37 +1 known silent c.1449 p.G483 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMD1 HGNC ENSG00000144791 479 0 0 193 36 15.7205 FAM212A 0 genome.wustl.edu 37 3 49842272 49842272 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 3 49842272 49842272 G A SNP FAM212A ENST00000333323 human ensembl 74_37 +1 known missense c.716 p.R239K 1.000 NULL NULL - no_errors FAM212A HGNC ENSG00000185614 251 0 0 62 33 34.7368 CRIPAK 0 genome.wustl.edu 37 4 1388392 1388392 + Silent SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 4 1388392 1388392 G A SNP CRIPAK ENST00000324803 human ensembl 74_37 +1 known silent c.93 p.E31 0.327 NULL smart_Post-SET_dom - no_errors CRIPAK HGNC ENSG00000179979 561 0 0 463 46 9.03733 PI4K2B 0 genome.wustl.edu 37 4 25256828 25256828 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 4 25256828 25256828 G A SNP PI4K2B ENST00000264864 human ensembl 74_37 +1 known missense c.565 p.E189K 1.000 pfam_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom - no_errors PI4K2B HGNC ENSG00000038210 113 0 0 15 35 70 FER 0 genome.wustl.edu 37 5 108134020 108134020 + Nonsense_Mutation SNP T T A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 5 108134020 108134020 T A SNP FER ENST00000281092 human ensembl 74_37 +1 known nonsense c.137 p.L46* 1.000 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors FER HGNC ENSG00000151422 118 0 0 21 4 16 BRD8 0 genome.wustl.edu 37 5 137503737 137503737 + Missense_Mutation SNP C C A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 5 137503737 137503737 C A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.673 p.G225C 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 205 0 0 53 30 36.1446 BRD8 0 genome.wustl.edu 37 5 137503739 137503739 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 5 137503739 137503739 G A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.671 p.S224F 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 205 0 0 51 47 47.9592 PCDHA11 0 genome.wustl.edu 37 5 140250469 140250469 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 5 140250469 140250469 G A SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.1781 p.R594H 0.390 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 244 0 0 119 18 13.1387 AGXT2 0 genome.wustl.edu 37 5 35035360 35035360 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 5 35035360 35035360 G A SNP AGXT2 ENST00000231420 human ensembl 74_37 -1 known missense c.548 p.A183V 0.898 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase - no_errors AGXT2 HGNC ENSG00000113492 193 0 0 81 108 57.1429 SPEF2 0 genome.wustl.edu 37 5 35806993 35806993 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 5 35806993 35806993 G A SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known missense c.5195 p.S1732N 0.010 pfam_HATC_dom_C pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 115 0 0 47 7 12.963 UGT3A2 0 genome.wustl.edu 37 5 36037997 36037997 + Silent SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 5 36037997 36037997 G A SNP UGT3A2 ENST00000282507 human ensembl 74_37 -1 known silent c.1197 p.V399 0.003 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A2 HGNC ENSG00000168671 226 0 0 189 12 5.97015 CDC20B 0 genome.wustl.edu 37 5 54415675 54415675 + Silent SNP C C A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 5 54415675 54415675 C A SNP CDC20B ENST00000296733 human ensembl 74_37 -1 known silent c.1413 p.V471 0.036 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CDC20B HGNC ENSG00000164287 178 0 0 63 13 17.1053 ZNF366 0 genome.wustl.edu 37 5 71757315 71757315 + Missense_Mutation SNP C C G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 5 71757315 71757315 C G SNP ZNF366 ENST00000318442 human ensembl 74_37 -1 known missense c.9 p.K3N 0.303 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF366 HGNC ENSG00000178175 126 0 0 33 22 40 GPR98 0 genome.wustl.edu 37 5 90024493 90024493 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 5 90024493 90024493 G A SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.10169 p.R3390K 0.533 pfscan_EAR pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 308 0 0 65 26 28.5714 RGMB 0 genome.wustl.edu 37 5 98115642 98115642 + Missense_Mutation SNP G G T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 5 98115642 98115642 G T SNP RGMB ENST00000308234 human ensembl 74_37 +1 known missense c.618 p.L206F 1.000 pfam_RGM_N pfam_RGM_C,pfam_RGM_N - no_errors RGMB HGNC ENSG00000174136 61 0 0 15 7 31.8182 REV3L 0 genome.wustl.edu 37 6 111631175 111631175 + Missense_Mutation SNP C C A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 6 111631175 111631175 C A SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.8923 p.D2975Y 1.000 pfam_DNA-dir_DNA_pol_B_multi_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 158 0 0 46 5 9.80392 NCOA7 0 genome.wustl.edu 37 6 126176272 126176272 + Missense_Mutation SNP G G C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 6 126176272 126176272 G C SNP NCOA7 ENST00000368357 human ensembl 74_37 +1 known missense c.157 p.D53H 1.000 NULL pfam_TLDc,pfam_LysM_dom,pfam_GRAM,smart_LysM_dom,smart_TLDc - no_errors NCOA7 HGNC ENSG00000111912 444 0 0 35 28 44.4444 DNAH8 0 genome.wustl.edu 37 6 38840773 38840773 + Silent SNP G G T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 6 38840773 38840773 G T SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known silent c.6678 p.T2226 0.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 160 0 0 76 4 5 CDYL 0 genome.wustl.edu 37 6 4937947 4937947 + Missense_Mutation SNP G G T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 6 4937947 4937947 G T SNP CDYL ENST00000328908 human ensembl 74_37 +1 known missense c.1259 p.S420I 1.000 pfam_Crotonase_core_superfam pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL HGNC ENSG00000153046 129 0 0 28 13 31.7073 SNAP91 0 genome.wustl.edu 37 6 84371281 84371281 + Missense_Mutation SNP A A C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 6 84371281 84371281 A C SNP SNAP91 ENST00000369694 human ensembl 74_37 -1 known missense c.392 p.L131W 1.000 pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors SNAP91 HGNC ENSG00000065609 90 0 0 8 4 33.3333 DUS4L 0 genome.wustl.edu 37 7 107214184 107214184 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 7 107214184 107214184 G A SNP DUS4L ENST00000265720 human ensembl 74_37 +1 known missense c.274 p.D92N 1.000 pfam_tRNA_hU_synthase,pirsf_tRNA_hU_synthase pfam_tRNA_hU_synthase,pfam_OxRdtase_FMN_N,pirsf_tRNA_hU_synthase - no_errors DUS4L HGNC ENSG00000105865 381 1 0.26178 75 25 25 MKLN1 0 genome.wustl.edu 37 7 131128350 131128350 + Missense_Mutation SNP G G T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 7 131128350 131128350 G T SNP MKLN1 ENST00000352689 human ensembl 74_37 +1 known missense c.1284 p.L428F 0.879 NULL pfam_Muskelin_N,pfam_Kelch_1,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_LisH_dimerisation,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors MKLN1 HGNC ENSG00000128585 132 1 0.75188 48 18 27.2727 CLCN1 0 genome.wustl.edu 37 7 143027909 143027909 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 7 143027909 143027909 C T SNP CLCN1 ENST00000343257 human ensembl 74_37 +1 known missense c.898 p.R300W 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl_channel-1 - no_errors CLCN1 HGNC ENSG00000188037 119 0 0 36 11 23.4043 KCNH2 0 genome.wustl.edu 37 7 150648871 150648871 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 7 150648871 150648871 C T SNP KCNH2 ENST00000262186 human ensembl 74_37 -1 known missense c.1610 p.R537Q 0.995 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH2 HGNC ENSG00000055118 64 0 0 34 7 17.0732 GALNT11 0 genome.wustl.edu 37 7 151805280 151805280 + Silent SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 7 151805280 151805280 C T SNP GALNT11 ENST00000320311 human ensembl 74_37 +1 known silent c.870 p.V290 0.429 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT11 HGNC ENSG00000178234 137 0 0 92 5 5.15464 KMT2C 0 genome.wustl.edu 37 7 151970951 151970951 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 7 151970951 151970951 C T SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.851 p.R284Q 1.000 smart_Znf_PHD pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 143 1 0.694444 77 9 10.4651 INMT 0 genome.wustl.edu 37 7 30795204 30795204 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 7 30795204 30795204 C T SNP INMT ENST00000013222 human ensembl 74_37 +1 known missense c.529 p.R177C 0.520 pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans - no_errors INMT HGNC ENSG00000241644 194 0 0 254 32 11.1888 GCK 0 genome.wustl.edu 37 7 44191983 44191983 + Missense_Mutation SNP A A C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 7 44191983 44191983 A C SNP GCK ENST00000345378 human ensembl 74_37 -1 known missense c.253 p.F85V 1.000 pfam_Hexokinase_N,prints_Hexokinase pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors GCK HGNC ENSG00000106633 218 0 0 160 15 8.57143 PON2 0 genome.wustl.edu 37 7 95035535 95035535 + Missense_Mutation SNP C C G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 7 95035535 95035535 C G SNP PON2 ENST00000536183 human ensembl 74_37 -1 known missense c.865 p.D289H 1.000 pfam_SGL,prints_Arylesterase pfam_Arylesterase,pfam_SGL,prints_Arylesterase,prints_Paraoxonase2 - no_errors PON2 HGNC ENSG00000105854 189 0 0 55 4 6.77966 ZFPM2 0 genome.wustl.edu 37 8 106815129 106815129 + Missense_Mutation SNP A A G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 8 106815129 106815129 A G SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known missense c.2819 p.Q940R 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 44 0 0 26 4 13.3333 ZNF572 0 genome.wustl.edu 37 8 125990059 125990059 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 8 125990059 125990059 C T SNP ZNF572 ENST00000319286 human ensembl 74_37 +1 known missense c.1549 p.P517S 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF572 HGNC ENSG00000180938 110 0 0 86 7 7.52688 DLC1 0 genome.wustl.edu 37 8 12957702 12957702 + Missense_Mutation SNP T T C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 8 12957702 12957702 T C SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known missense c.2144 p.E715G 1.000 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 91 0 0 45 11 19.6429 GPT 0 genome.wustl.edu 37 8 145731400 145731400 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 8 145731400 145731400 C T SNP GPT ENST00000394955 human ensembl 74_37 +1 known missense c.842 p.A281V 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors GPT HGNC ENSG00000167701 56 0 0 55 19 25.6757 TUSC3 0 genome.wustl.edu 37 8 15397991 15397991 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 8 15397991 15397991 C T SNP TUSC3 ENST00000503731 human ensembl 74_37 +1 known missense c.52 p.R18W 0.940 NULL pfam_OligosaccharylTrfase_OST3/OST6,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TUSC3 HGNC ENSG00000104723 47 0 0 8 12 60 UNC5D 0 genome.wustl.edu 37 8 35541183 35541183 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 8 35541183 35541183 C T SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known missense c.689 p.T230I 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5D HGNC ENSG00000156687 96 0 0 25 8 24.2424 MRPL15 0 genome.wustl.edu 37 8 55060008 55060008 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 8 55060008 55060008 C T SNP MRPL15 ENST00000260102 human ensembl 74_37 +1 known missense c.620 p.P207L 0.973 NULL pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P - no_errors MRPL15 HGNC ENSG00000137547 111 0 0 71 26 26.8041 CA3 0 genome.wustl.edu 37 8 86360349 86360349 + Missense_Mutation SNP C C G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 8 86360349 86360349 C G SNP CA3 ENST00000285381 human ensembl 74_37 +1 known missense c.750 p.I250M 0.996 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA3 HGNC ENSG00000164879 45 0 0 52 7 11.8644 NECAB1 0 genome.wustl.edu 37 8 91940518 91940518 + Silent SNP G G T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 8 91940518 91940518 G T SNP NECAB1 ENST00000417640 human ensembl 74_37 +1 known silent c.684 p.L228 1.000 NULL pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NECAB1 HGNC ENSG00000123119 138 0 0 55 13 19.1176 SETX 0 genome.wustl.edu 37 9 135202659 135202659 + Missense_Mutation SNP A A C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 9 135202659 135202659 A C SNP SETX ENST00000372169 human ensembl 74_37 -1 known missense c.4326 p.C1442W 0.000 NULL superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 222 0 0 90 6 6.25 SETX 0 genome.wustl.edu 37 9 135202660 135202660 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 9 135202660 135202660 C T SNP SETX ENST00000372169 human ensembl 74_37 -1 known missense c.4325 p.C1442Y 0.003 NULL superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 225 0 0 88 7 7.36842 FOXD4L5 0 genome.wustl.edu 37 9 70177544 70177544 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 9 70177544 70177544 C T SNP FOXD4L5 ENST00000377420 human ensembl 74_37 -1 known missense c.440 p.R147H 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L5 HGNC ENSG00000204779 44 0 0 41 13 24.0741 COL4A6 0 genome.wustl.edu 37 X 107412759 107412759 + Silent SNP C C A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d X 107412759 107412759 C A SNP COL4A6 ENST00000372216 human ensembl 74_37 -1 known silent c.3660 p.G1220 0.006 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 105 0 0 71 38 34.8624 HTR2C 0 genome.wustl.edu 37 X 114141785 114141785 + Missense_Mutation SNP T T A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d X 114141785 114141785 T A SNP HTR2C ENST00000276198 human ensembl 74_37 +1 known missense c.1184 p.V395D 0.003 prints_5HT2C_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2C_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2C HGNC ENSG00000147246 248 0 0 83 86 50.8876 DCAF12L2 0 genome.wustl.edu 37 X 125299259 125299259 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d X 125299259 125299259 C T SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known missense c.649 p.V217M 0.217 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 126 0 0 38 41 51.8987 MOSPD1 0 genome.wustl.edu 37 X 134025640 134025640 + Missense_Mutation SNP A A G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d X 134025640 134025640 A G SNP MOSPD1 ENST00000370777 human ensembl 74_37 -1 known missense c.482 p.L161S 1.000 NULL pfam_MSP_dom,superfamily_PapD-like,pfscan_MSP_dom - no_errors MOSPD1 HGNC ENSG00000101928 176 0 0 57 26 31.3253 MAP7D3 0 genome.wustl.edu 37 X 135314089 135314089 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d X 135314089 135314089 C T SNP MAP7D3 ENST00000370663 human ensembl 74_37 -1 known missense c.973 p.V325M 0.000 NULL pfam_MAP7 - no_errors MAP7D3 HGNC ENSG00000129680 259 0 0 156 25 13.8122 MAGEA10 0 genome.wustl.edu 37 X 151303170 151303170 + Missense_Mutation SNP T T G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d X 151303170 151303170 T G SNP MAGEA10 ENST00000244096 human ensembl 74_37 -1 known missense c.923 p.K308T 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA10 HGNC ENSG00000124260 324 0 0 111 33 22.9167 SLC10A3 0 genome.wustl.edu 37 X 153716440 153716440 + Silent SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d X 153716440 153716440 G A SNP SLC10A3 ENST00000263512 human ensembl 74_37 -1 known silent c.840 p.D280 0.341 pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A3 HGNC ENSG00000126903 147 0 0 60 23 27.7108 USP11 0 genome.wustl.edu 37 X 47092439 47092439 + Silent SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d X 47092439 47092439 G A SNP USP11 ENST00000218348 human ensembl 74_37 +1 known silent c.126 p.T42 0.001 NULL pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67 - no_errors USP11 HGNC ENSG00000102226 60 0 0 14 18 56.25 AR 0 genome.wustl.edu 37 X 66765885 66765885 + Silent SNP A A T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d X 66765885 66765885 A T SNP AR ENST00000374690 human ensembl 74_37 +1 known silent c.897 p.A299 0.000 pfam_Andrgn_rcpt pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 96 0 0 29 29 50 P2RY4 0 genome.wustl.edu 37 X 69478801 69478801 + Missense_Mutation SNP C C G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d X 69478801 69478801 C G SNP P2RY4 ENST00000374519 human ensembl 74_37 -1 known missense c.674 p.R225P 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y4_rcpt,prints_GPCR_Rhodpsn,prints_P2Y2_rcpt - no_errors P2RY4 HGNC ENSG00000186912 82 0 0 32 19 37.2549 CYSLTR1 0 genome.wustl.edu 37 X 77529219 77529219 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d X 77529219 77529219 C T SNP CYSLTR1 ENST00000373304 human ensembl 74_37 -1 known missense c.25 p.V9I 0.171 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Cyst_leuk_rcpt,prints_CLT1_recept,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors CYSLTR1 HGNC ENSG00000173198 143 0 0 72 4 5.26316 PCDH11X 0 genome.wustl.edu 37 X 91131997 91131997 + Missense_Mutation SNP A A C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d X 91131997 91131997 A C SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known missense c.758 p.E253A 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 183 0 0 81 5 5.81395 BCAN 0 genome.wustl.edu 37 1 156616753 156616756 + Frame_Shift_Del DEL GGGC GGGC - TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 GGGC GGGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 1 156616753 156616756 GGGC - DEL BCAN ENST00000329117 human ensembl 74_37 +1 known frame_shift_del c.252_255 p.E87fs 0.912:0.967:0.892:0.701 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom - no_errors BCAN HGNC ENSG00000132692 62 0 0 23 3 11.5385 A2ML1 0 genome.wustl.edu 37 12 9009920 9009920 + Frame_Shift_Del DEL G G - TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 12 9009920 9009920 G - DEL A2ML1 ENST00000299698 human ensembl 74_37 +1 known frame_shift_del c.3009 p.G1004fs 0.009 superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors A2ML1 HGNC ENSG00000166535 280 0 0 135 10 6.89655 TMEM121 0 genome.wustl.edu 37 14 105996050 105996052 + In_Frame_Del DEL GCC GCC - TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 GCC GCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 14 105996050 105996052 GCC - DEL TMEM121 ENST00000392519 human ensembl 74_37 +1 known in_frame_del c.879_881 p.P297in_frame_del 0.404:0.938:0.989 NULL NULL - no_errors TMEM121 HGNC ENSG00000184986 8 0 0 3 2 40 SNORD115-6 0 genome.wustl.edu 37 15 25425692 25425692 + RNA DEL A A - TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 15 25425692 25425692 A - DEL SNORD115-6 ENST00000363942 human ensembl 74_37 +1 known rna NULL NULL 0.215 - - - no_errors SNORD115-6 HGNC ENSG00000200812 844 0 0 298 31 9.42249 MYH10 0 genome.wustl.edu 37 17 8398465 8398466 + In_Frame_Ins INS - - GTA TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 17 8398465 8398466 - GTA INS MYH10 ENST00000396239 human ensembl 74_37 -1 known in_frame_ins c.4016_4015 p.1339in_frame_insL 1.000:1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 162 0 0 23 12 34.2857 SLC4A3 0 genome.wustl.edu 37 2 220494110 220494111 + Frame_Shift_Ins INS - - C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 2 220494110 220494111 - C INS SLC4A3 ENST00000273063 human ensembl 74_37 +1 known frame_shift_ins c.462_463 p.H156fs 0.015:0.049 prints_Anion_exchange_3 pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 35 0 0 11 2 15.3846 SRBD1 0 genome.wustl.edu 37 2 45620206 45620207 + Frame_Shift_Ins INS - - T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 2 45620206 45620207 - T INS SRBD1 ENST00000263736 human ensembl 74_37 -1 known frame_shift_ins c.2576_2575 p.I859fs 1.000:1.000 NULL pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SRBD1 HGNC ENSG00000068784 119 0 0 30 24 44.4444 DYNC1LI1 0 genome.wustl.edu 37 3 32571050 32571050 + Frame_Shift_Del DEL T T - TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 3 32571050 32571050 T - DEL DYNC1LI1 ENST00000273130 human ensembl 74_37 -1 known frame_shift_del c.1288 p.I430fs 1.000 pfam_Dynein_light_int_chain pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase - no_errors DYNC1LI1 HGNC ENSG00000144635 22 0 0 13 2 13.3333 HRCT1 0 genome.wustl.edu 37 9 35906348 35906350 + In_Frame_Del DEL CTG CTG - TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d 9 35906348 35906350 CTG - DEL HRCT1 ENST00000354323 human ensembl 74_37 +1 known in_frame_del c.64_66 p.L25in_frame_del 0.168:0.493:0.516 NULL NULL - no_errors HRCT1 HGNC ENSG00000196196 29 0 0 13 3 18.75