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 AMY2B 0 genome.wustl.edu 37 1 104112344 104112344 + RNA SNP G G T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 1 104112344 104112344 G T SNP AMY2B ENST00000491397 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AMY2B HGNC ENSG00000240038 31 0 0 22 4 15.3846 DRAM2 0 genome.wustl.edu 37 1 111663184 111663184 + Missense_Mutation SNP C C G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 1 111663184 111663184 C G SNP DRAM2 ENST00000286692 human ensembl 74_37 -1 known missense c.471 p.W157C 1.000 pfam_Frag1/DRAM/Sfk1 pfam_Frag1/DRAM/Sfk1 - no_errors DRAM2 HGNC ENSG00000156171 68 0 0 54 3 5.26316 PRAMEF2 0 genome.wustl.edu 37 1 12919022 12919022 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 1 12919022 12919022 C T SNP PRAMEF2 ENST00000240189 human ensembl 74_37 +1 known missense c.158 p.T53M 0.007 NULL NULL - no_errors PRAMEF2 HGNC ENSG00000120952 198 0 0 115 33 22.2973 PRAMEF4 0 genome.wustl.edu 37 1 12942129 12942129 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 1 12942129 12942129 G A SNP PRAMEF4 ENST00000235349 human ensembl 74_37 -1 known missense c.421 p.P141S 0.000 NULL NULL - no_errors PRAMEF4 HGNC ENSG00000243073 463 0 0 292 35 10.7034 LCE2C 0 genome.wustl.edu 37 1 152648577 152648577 + Missense_Mutation SNP C C G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 1 152648577 152648577 C G SNP LCE2C ENST00000368783 human ensembl 74_37 +1 known missense c.86 p.P29R 0.053 NULL NULL - no_errors LCE2C HGNC ENSG00000187180 310 0 0 250 26 9.42029 FCRL2 0 genome.wustl.edu 37 1 157739893 157739893 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 1 157739893 157739893 C T SNP FCRL2 ENST00000361516 human ensembl 74_37 -1 known missense c.358 p.E120K 0.001 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL2 HGNC ENSG00000132704 136 0 0 89 5 5.31915 ADAMTS4 0 genome.wustl.edu 37 1 161166028 161166028 + Silent SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 1 161166028 161166028 C T SNP ADAMTS4 ENST00000367996 human ensembl 74_37 -1 known silent c.1023 p.P341 0.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS4 HGNC ENSG00000158859 110 1 0.900901 48 35 42.1687 ESPNP 0 genome.wustl.edu 37 1 17046610 17046610 + RNA SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 1 17046610 17046610 G A SNP ESPNP ENST00000492551 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ESPNP HGNC ENSG00000268869 285 0 0 167 30 15.2284 PAPPA2 0 genome.wustl.edu 37 1 176668713 176668713 + Missense_Mutation SNP A A C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 1 176668713 176668713 A C SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.3224 p.K1075T 0.174 superfamily_Fibronectin_type3 pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 302 0 0 284 28 8.97436 B3GALT2 0 genome.wustl.edu 37 1 193150565 193150565 + Missense_Mutation SNP A A T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 1 193150565 193150565 A T SNP B3GALT2 ENST00000367434 human ensembl 74_37 -1 known missense c.128 p.F43Y 1.000 NULL pfam_Glyco_trans_31 - no_errors B3GALT2 HGNC ENSG00000162630 108 0 0 85 10 10.5263 KCNT2 0 genome.wustl.edu 37 1 196250003 196250003 + Missense_Mutation SNP A A G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 1 196250003 196250003 A G SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.2897 p.L966P 0.977 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 95 0 0 67 11 14.1026 ZNF281 0 genome.wustl.edu 37 1 200377112 200377112 + Silent SNP A A C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 1 200377112 200377112 A C SNP ZNF281 ENST00000294740 human ensembl 74_37 -1 known silent c.1722 p.V574 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF281 HGNC ENSG00000162702 65 0 0 42 6 12.5 CR1 0 genome.wustl.edu 37 1 207684998 207684998 + Missense_Mutation SNP C C G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 1 207684998 207684998 C G SNP CR1 ENST00000367049 human ensembl 74_37 +1 known missense c.486 p.D162E 0.797 superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC ENSG00000203710 90 0 0 65 9 12.1622 LIN9 0 genome.wustl.edu 37 1 226475499 226475499 + Splice_Site SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 1 226475499 226475499 C T SNP LIN9 ENST00000328205 human ensembl 74_37 -1 known splice_site c.313-1 e5-1 1.000 - - - no_errors LIN9 HGNC ENSG00000183814 103 0 0 71 9 11.25 ACTA1 0 genome.wustl.edu 37 1 229568156 229568156 + Silent SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 1 229568156 229568156 G A SNP ACTA1 ENST00000366684 human ensembl 74_37 -1 known silent c.477 p.D159 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTA1 HGNC ENSG00000143632 56 0 0 60 6 9.09091 ACTN2 0 genome.wustl.edu 37 1 236902755 236902755 + Missense_Mutation SNP A A G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 1 236902755 236902755 A G SNP ACTN2 ENST00000366578 human ensembl 74_37 +1 known missense c.1030 p.N344D 1.000 pfam_Spectrin_repeat pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN2 HGNC ENSG00000077522 127 0 0 114 11 8.8 ACTN2 0 genome.wustl.edu 37 1 236910982 236910982 + Silent SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 1 236910982 236910982 C T SNP ACTN2 ENST00000366578 human ensembl 74_37 +1 known silent c.1422 p.H474 0.198 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN2 HGNC ENSG00000077522 70 0 0 42 4 8.69565 TRIM58 0 genome.wustl.edu 37 1 248020713 248020713 + Silent SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 1 248020713 248020713 C T SNP TRIM58 ENST00000366481 human ensembl 74_37 +1 known silent c.165 p.Y55 0.010 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM58 HGNC ENSG00000162722 36 0 0 17 5 22.7273 DMAP1 0 genome.wustl.edu 37 1 44684864 44684864 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 1 44684864 44684864 G A SNP DMAP1 ENST00000315913 human ensembl 74_37 +1 known missense c.857 p.R286H 1.000 pfam_DMAP1 pfam_DMAP1,superfamily_Homeodomain-like - no_errors DMAP1 HGNC ENSG00000178028 94 0 0 58 6 9.375 LRRIQ3 0 genome.wustl.edu 37 1 74621486 74621486 + Missense_Mutation SNP A A G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 1 74621486 74621486 A G SNP LRRIQ3 ENST00000354431 human ensembl 74_37 -1 known missense c.638 p.L213P 0.979 NULL pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 33 0 0 18 4 18.1818 KIAA1462 0 genome.wustl.edu 37 10 30318221 30318221 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 10 30318221 30318221 G A SNP KIAA1462 ENST00000375377 human ensembl 74_37 -1 known missense c.856 p.R286W 0.993 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 107 0 0 85 7 7.6087 PCDH15 0 genome.wustl.edu 37 10 56423950 56423950 + Missense_Mutation SNP A A C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 10 56423950 56423950 A C SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.73 p.L25V 0.914 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 55 0 0 35 4 10.2564 SAR1A 0 genome.wustl.edu 37 10 71921290 71921290 + RNA SNP A A T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 10 71921290 71921290 A T SNP SAR1A ENST00000477464 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors SAR1A HGNC ENSG00000079332 48 0 0 14 4 22.2222 TMEM133 0 genome.wustl.edu 37 11 100863358 100863358 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 11 100863358 100863358 G A SNP TMEM133 ENST00000303130 human ensembl 74_37 +1 known missense c.319 p.V107I 0.000 NULL NULL - no_errors TMEM133 HGNC ENSG00000170647 242 0 0 137 60 30.4569 AMPD3 0 genome.wustl.edu 37 11 10500162 10500162 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 11 10500162 10500162 C T SNP AMPD3 ENST00000396553 human ensembl 74_37 +1 known missense c.311 p.P104L 0.996 pirsf_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD3 HGNC ENSG00000133805 333 1 0.299401 208 31 12.9707 SLC37A4 0 genome.wustl.edu 37 11 118897306 118897306 + RNA SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 11 118897306 118897306 C T SNP SLC37A4 ENST00000525372 human ensembl 74_37 -1 known rna NULL NULL 0.976 - - - no_errors SLC37A4 HGNC ENSG00000137700 29 0 0 8 7 46.6667 FEZ1 0 genome.wustl.edu 37 11 125359440 125359440 + Silent SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 11 125359440 125359440 G A SNP FEZ1 ENST00000278919 human ensembl 74_37 -1 known silent c.234 p.N78 0.994 pfam_FEZ pfam_FEZ - no_errors FEZ1 HGNC ENSG00000149557 181 0 0 92 49 34.7518 OPCML 0 genome.wustl.edu 37 11 132527068 132527068 + Missense_Mutation SNP A A G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 11 132527068 132527068 A G SNP OPCML ENST00000541867 human ensembl 74_37 -1 known missense c.314 p.V105A 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors OPCML HGNC ENSG00000183715 168 0 0 102 13 11.3043 QSER1 0 genome.wustl.edu 37 11 32954335 32954335 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 11 32954335 32954335 T G SNP QSER1 ENST00000399302 human ensembl 74_37 +1 known missense c.1144 p.S382A 1.000 NULL NULL - no_errors QSER1 HGNC ENSG00000060749 178 0 0 125 25 16.6667 OR4A15 0 genome.wustl.edu 37 11 55135904 55135904 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 11 55135904 55135904 T G SNP OR4A15 ENST00000314706 human ensembl 74_37 +1 known missense c.545 p.L182R 0.027 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A15 HGNC ENSG00000181958 366 0 0 274 32 10.4575 OR4C15 0 genome.wustl.edu 37 11 55322128 55322128 + Silent SNP T T C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 11 55322128 55322128 T C SNP OR4C15 ENST00000314644 human ensembl 74_37 +1 known silent c.346 p.L116 0.023 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C15 HGNC ENSG00000181939 367 0 0 276 23 7.69231 OR4C15 0 genome.wustl.edu 37 11 55322572 55322572 + Missense_Mutation SNP T T C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 11 55322572 55322572 T C SNP OR4C15 ENST00000314644 human ensembl 74_37 +1 known missense c.790 p.F264L 0.062 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C15 HGNC ENSG00000181939 203 0 0 115 13 10.1562 OR5L2 0 genome.wustl.edu 37 11 55595575 55595575 + Missense_Mutation SNP A A T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 11 55595575 55595575 A T SNP OR5L2 ENST00000378397 human ensembl 74_37 +1 known missense c.881 p.N294I 0.995 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L2 HGNC ENSG00000205030 88 0 0 75 5 6.25 OR5W2 0 genome.wustl.edu 37 11 55681965 55681965 + Silent SNP A A G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 11 55681965 55681965 A G SNP OR5W2 ENST00000344514 human ensembl 74_37 -1 known silent c.94 p.L32 0.017 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5W2 HGNC ENSG00000187612 100 0 0 56 10 15.1515 TRIM22 0 genome.wustl.edu 37 11 5730455 5730455 + Missense_Mutation SNP A A C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 11 5730455 5730455 A C SNP TRIM22 ENST00000379965 human ensembl 74_37 +1 known missense c.1074 p.E358D 0.976 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM22 HGNC ENSG00000132274 277 0 0 160 21 11.6022 SLC29A2 0 genome.wustl.edu 37 11 66134027 66134027 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 11 66134027 66134027 C T SNP SLC29A2 ENST00000357440 human ensembl 74_37 -1 known missense c.742 p.G248R 0.366 pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,tigrfam_Eqnu_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt - no_errors SLC29A2 HGNC ENSG00000174669 102 0 0 64 4 5.88235 NLRP14 0 genome.wustl.edu 37 11 7064388 7064388 + Silent SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 11 7064388 7064388 T G SNP NLRP14 ENST00000299481 human ensembl 74_37 +1 known silent c.1131 p.T377 0.929 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP14 HGNC ENSG00000158077 250 0 0 152 21 12.1387 PDE2A 0 genome.wustl.edu 37 11 72291953 72291953 + Missense_Mutation SNP T T A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 11 72291953 72291953 T A SNP PDE2A ENST00000334456 human ensembl 74_37 -1 known missense c.2110 p.N704Y 0.998 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE2A HGNC ENSG00000186642 91 0 0 66 5 7.04225 OR10A6 0 genome.wustl.edu 37 11 7950014 7950014 + Missense_Mutation SNP A A C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 11 7950014 7950014 A C SNP OR10A6 ENST00000309838 human ensembl 74_37 -1 known missense c.196 p.L66V 0.881 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A6 HGNC ENSG00000175393 218 0 0 171 23 11.8557 FAT3 0 genome.wustl.edu 37 11 92531044 92531044 + Missense_Mutation SNP T T A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 11 92531044 92531044 T A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.4865 p.I1622N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 155 0 0 97 13 11.8182 MYO1H 0 genome.wustl.edu 37 12 109826622 109826622 + Silent SNP C C A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 12 109826622 109826622 C A SNP MYO1H ENST00000431443 human ensembl 74_37 +1 known silent c.99 p.R33 0.999 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1H HGNC ENSG00000174527 488 1 0.204499 334 20 5.64972 KNTC1 0 genome.wustl.edu 37 12 123019236 123019236 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 12 123019236 123019236 C T SNP KNTC1 ENST00000333479 human ensembl 74_37 +1 known missense c.155 p.A52V 1.000 superfamily_WD40_repeat_dom pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 34 0 0 7 3 30 FZD10 0 genome.wustl.edu 37 12 130648113 130648113 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 12 130648113 130648113 C T SNP FZD10 ENST00000229030 human ensembl 74_37 +1 known missense c.626 p.P209L 1.000 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD10 HGNC ENSG00000111432 67 0 0 29 4 12.1212 ATF7IP 0 genome.wustl.edu 37 12 14577210 14577210 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 12 14577210 14577210 C T SNP ATF7IP ENST00000261168 human ensembl 74_37 +1 known missense c.361 p.P121S 0.001 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ENSG00000171681 131 0 0 100 8 7.40741 PLCZ1 0 genome.wustl.edu 37 12 18865822 18865822 + Missense_Mutation SNP A A C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 12 18865822 18865822 A C SNP PLCZ1 ENST00000266505 human ensembl 74_37 -1 known missense c.668 p.L223R 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCZ1 HGNC ENSG00000139151 68 0 0 37 5 11.9048 GYS2 0 genome.wustl.edu 37 12 21733310 21733310 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 12 21733310 21733310 C T SNP GYS2 ENST00000261195 human ensembl 74_37 -1 known missense c.269 p.R90K 0.000 pfam_Glycogen_synth pfam_Glycogen_synth,pfam_Glyco_trans_1 - no_errors GYS2 HGNC ENSG00000111713 294 0 0 186 18 8.82353 TM7SF3 0 genome.wustl.edu 37 12 27148201 27148201 + Missense_Mutation SNP C C A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 12 27148201 27148201 C A SNP TM7SF3 ENST00000343028 human ensembl 74_37 -1 known missense c.659 p.S220I 0.000 NULL NULL - no_errors TM7SF3 HGNC ENSG00000064115 154 0 0 62 44 41.5094 SLC38A4 0 genome.wustl.edu 37 12 47173394 47173394 + Silent SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 12 47173394 47173394 C T SNP SLC38A4 ENST00000266579 human ensembl 74_37 -1 known silent c.717 p.V239 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A4 HGNC ENSG00000139209 132 0 0 96 15 13.5135 VDR 0 genome.wustl.edu 37 12 48272756 48272756 + Missense_Mutation SNP G G T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 12 48272756 48272756 G T SNP VDR ENST00000229022 human ensembl 74_37 -1 known missense c.141 p.F47L 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_VitD_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors VDR HGNC ENSG00000111424 100 0 0 67 4 5.6338 VDR 0 genome.wustl.edu 37 12 48272757 48272757 + Missense_Mutation SNP A A T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 12 48272757 48272757 A T SNP VDR ENST00000229022 human ensembl 74_37 -1 known missense c.140 p.F47Y 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_VitD_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors VDR HGNC ENSG00000111424 103 0 0 68 4 5.55556 VDR 0 genome.wustl.edu 37 12 48272758 48272758 + Missense_Mutation SNP A A T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 12 48272758 48272758 A T SNP VDR ENST00000229022 human ensembl 74_37 -1 known missense c.139 p.F47I 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_VitD_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors VDR HGNC ENSG00000111424 102 0 0 68 4 5.55556 AQP2 0 genome.wustl.edu 37 12 50344953 50344953 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 12 50344953 50344953 G A SNP AQP2 ENST00000199280 human ensembl 74_37 +1 known missense c.340 p.G114R 0.998 pfam_MIP,superfamily_Aquaporin-like,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP - no_errors AQP2 HGNC ENSG00000167580 26 0 0 12 6 33.3333 KRT5 0 genome.wustl.edu 37 12 52910460 52910460 + Missense_Mutation SNP A A G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 12 52910460 52910460 A G SNP KRT5 ENST00000252242 human ensembl 74_37 -1 known missense c.1400 p.I467T 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT5 HGNC ENSG00000186081 257 1 0.387597 149 21 12.3529 WASF3 0 genome.wustl.edu 37 13 27259976 27259976 + Silent SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 13 27259976 27259976 C T SNP WASF3 ENST00000335327 human ensembl 74_37 +1 known silent c.1503 p.S501 0.473 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF3 HGNC ENSG00000132970 78 0 0 72 40 35.7143 USPL1 0 genome.wustl.edu 37 13 31232148 31232148 + Missense_Mutation SNP T T C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 13 31232148 31232148 T C SNP USPL1 ENST00000255304 human ensembl 74_37 +1 known missense c.1934 p.I645T 0.000 NULL pfscan_Peptidase_C19/C67 - no_errors USPL1 HGNC ENSG00000132952 107 0 0 134 23 14.6497 NBEA 0 genome.wustl.edu 37 13 36006493 36006493 + Silent SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 13 36006493 36006493 T G SNP NBEA ENST00000310336 human ensembl 74_37 +1 known silent c.6267 p.T2089 1.000 pfam_DUF1088 pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 36 0 0 20 11 35.4839 ENOX1 0 genome.wustl.edu 37 13 43896631 43896631 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 13 43896631 43896631 G A SNP ENOX1 ENST00000261488 human ensembl 74_37 -1 known missense c.1150 p.R384W 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX1 HGNC ENSG00000120658 86 0 0 139 19 12.0253 THSD1 0 genome.wustl.edu 37 13 52952648 52952648 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 13 52952648 52952648 G A SNP THSD1 ENST00000258613 human ensembl 74_37 -1 known missense c.1457 p.T486M 0.000 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD1 HGNC ENSG00000136114 135 0 0 209 13 5.85586 SLITRK1 0 genome.wustl.edu 37 13 84453960 84453960 + Silent SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 13 84453960 84453960 C T SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known silent c.1683 p.P561 0.047 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 76 0 0 18 15 45.4545 PRKD1 0 genome.wustl.edu 37 14 30068245 30068245 + Silent SNP A A G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 14 30068245 30068245 A G SNP PRKD1 ENST00000331968 human ensembl 74_37 -1 known silent c.2154 p.D718 0.976 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 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 183 0 0 144 24 14.2857 PPP2R3C 0 genome.wustl.edu 37 14 35554856 35554856 + Silent SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 14 35554856 35554856 C T SNP PPP2R3C ENST00000261475 human ensembl 74_37 -1 known silent c.1302 p.E434 1.000 NULL NULL - no_errors PPP2R3C HGNC ENSG00000092020 126 0 0 83 11 11.7021 MIS18BP1 0 genome.wustl.edu 37 14 45716199 45716199 + Silent SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 14 45716199 45716199 G A SNP MIS18BP1 ENST00000310806 human ensembl 74_37 -1 known silent c.291 p.P97 0.914 NULL pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC ENSG00000129534 187 0 0 106 9 7.82609 ABHD12B 0 genome.wustl.edu 37 14 51368592 51368592 + Missense_Mutation SNP C C G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 14 51368592 51368592 C G SNP ABHD12B ENST00000337334 human ensembl 74_37 +1 known missense c.826 p.L276V 0.144 pfam_Peptidase_S9 pfam_AB_hydrolase_1,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors ABHD12B HGNC ENSG00000131969 78 0 0 63 5 7.35294 RHOJ 0 genome.wustl.edu 37 14 63735880 63735880 + Silent SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 14 63735880 63735880 G A SNP RHOJ ENST00000316754 human ensembl 74_37 +1 known silent c.231 p.A77 0.953 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOJ HGNC ENSG00000126785 117 0 0 28 39 58.209 ADAM21P1 0 genome.wustl.edu 37 14 70714387 70714387 + RNA SNP G G C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 14 70714387 70714387 G C SNP ADAM21P1 ENST00000530196 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ADAM21P1 HGNC ENSG00000235812 209 0 0 107 14 11.5702 TJP1 0 genome.wustl.edu 37 15 30010567 30010567 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 15 30010567 30010567 T G SNP TJP1 ENST00000346128 human ensembl 74_37 -1 known missense c.3779 p.K1260T 1.000 NULL pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 194 0 0 92 10 9.80392 RYR3 0 genome.wustl.edu 37 15 34134178 34134178 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 15 34134178 34134178 C T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.13151 p.P4384L 0.998 pfam_Ryanrecept_TM4-6,superfamily_4_helix_cytokine-like_core pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 11 0 0 1 5 83.3333 GPR176 0 genome.wustl.edu 37 15 40094423 40094423 + Missense_Mutation SNP T T C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 15 40094423 40094423 T C SNP GPR176 ENST00000561100 human ensembl 74_37 -1 known missense c.458 p.K153R 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR176 HGNC ENSG00000166073 113 0 0 43 48 52.7473 SEMA6D 0 genome.wustl.edu 37 15 48052517 48052517 + Silent SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 15 48052517 48052517 G A SNP SEMA6D ENST00000316364 human ensembl 74_37 +1 known silent c.126 p.P42 1.000 superfamily_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6D HGNC ENSG00000137872 72 0 0 19 22 53.6585 USP8 0 genome.wustl.edu 37 15 50791187 50791187 + Missense_Mutation SNP G G C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 15 50791187 50791187 G C SNP USP8 ENST00000307179 human ensembl 74_37 +1 known missense c.3259 p.E1087Q 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_USP8_dimer,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_dom,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19/C67 - no_errors USP8 HGNC ENSG00000138592 180 0 0 86 9 9.47368 PEAK1 0 genome.wustl.edu 37 15 77407493 77407493 + Missense_Mutation SNP C C G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 15 77407493 77407493 C G SNP PEAK1 ENST00000312493 human ensembl 74_37 -1 known missense c.4246 p.D1416H 0.885 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors PEAK1 HGNC ENSG00000173517 201 0 0 107 11 9.32203 RHBDF1 0 genome.wustl.edu 37 16 108437 108437 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 16 108437 108437 C T SNP RHBDF1 ENST00000262316 human ensembl 74_37 -1 known missense c.2470 p.V824I 1.000 NULL pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF1 HGNC ENSG00000007384 360 1 0.277008 185 117 38.7417 DNAH3 0 genome.wustl.edu 37 16 21008739 21008739 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 16 21008739 21008739 G A SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.6467 p.P2156L 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 151 0 0 114 13 10.2362 SETD1A 0 genome.wustl.edu 37 16 30980994 30980994 + Missense_Mutation SNP G G C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 16 30980994 30980994 G C SNP SETD1A ENST00000262519 human ensembl 74_37 +1 known missense c.3000 p.E1000D 0.816 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1A HGNC ENSG00000099381 84 0 0 86 6 6.52174 VKORC1 0 genome.wustl.edu 37 16 31104640 31104640 + Missense_Mutation SNP T T A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 16 31104640 31104640 T A SNP VKORC1 ENST00000498155 human ensembl 74_37 -1 putative missense c.373 p.I125F 0.956 NULL NULL - no_errors VKORC1 HGNC ENSG00000167397 112 0 0 57 37 39.3617 SLX4 0 genome.wustl.edu 37 16 3639115 3639115 + Silent SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 16 3639115 3639115 C T SNP SLX4 ENST00000294008 human ensembl 74_37 -1 known silent c.4524 p.S1508 0.007 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 335 0 0 239 24 9.12548 HYDIN 0 genome.wustl.edu 37 16 70902609 70902609 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 16 70902609 70902609 C T SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.11174 p.R3725Q 0.000 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 58 0 0 37 2 5.12821 TMEM11 0 genome.wustl.edu 37 17 21101536 21101536 + RNA SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 17 21101536 21101536 C T SNP TMEM11 ENST00000577419 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors TMEM11 HGNC ENSG00000178307 70 0 0 31 13 29.5455 FAM222B 0 genome.wustl.edu 37 17 27085478 27085478 + Missense_Mutation SNP C C A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 17 27085478 27085478 C A SNP FAM222B ENST00000341217 human ensembl 74_37 -1 known missense c.1499 p.G500V 0.987 NULL NULL - no_errors FAM222B HGNC ENSG00000173065 79 0 0 68 13 16.0494 CCL8 0 genome.wustl.edu 37 17 32646540 32646540 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 17 32646540 32646540 T G SNP CCL8 ENST00000394620 human ensembl 74_37 +1 known missense c.20 p.L7R 0.000 NULL pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL8 HGNC ENSG00000108700 114 0 0 84 15 15.1515 CWC25 0 genome.wustl.edu 37 17 36963083 36963083 + Silent SNP T T A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 17 36963083 36963083 T A SNP CWC25 ENST00000225428 human ensembl 74_37 -1 known silent c.837 p.A279 0.000 NULL pfam_CWC25,pfam_CIR_N_dom - no_errors CWC25 HGNC ENSG00000108296 104 0 0 109 11 9.16667 KIF2B 0 genome.wustl.edu 37 17 51901928 51901928 + Missense_Mutation SNP T T A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 17 51901928 51901928 T A SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known missense c.1534 p.S512T 0.998 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 98 0 0 76 5 6.17284 TEX14 0 genome.wustl.edu 37 17 56699054 56699054 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 17 56699054 56699054 G A SNP TEX14 ENST00000240361 human ensembl 74_37 -1 known missense c.511 p.R171W 0.741 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors TEX14 HGNC ENSG00000121101 105 0 0 84 7 7.69231 KIF19 0 genome.wustl.edu 37 17 72340999 72340999 + Missense_Mutation SNP G G T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 17 72340999 72340999 G T SNP KIF19 ENST00000389916 human ensembl 74_37 +1 known missense c.682 p.V228L 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom 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 85 0 0 46 3 6.12245 TMEM102 0 genome.wustl.edu 37 17 7339728 7339728 + Missense_Mutation SNP G G T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 17 7339728 7339728 G T SNP TMEM102 ENST00000323206 human ensembl 74_37 +1 known missense c.430 p.V144F 0.997 NULL NULL - no_errors TMEM102 HGNC ENSG00000181284 104 0 0 63 9 12.5 RHBDF2 0 genome.wustl.edu 37 17 74470539 74470539 + Silent SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 17 74470539 74470539 G A SNP RHBDF2 ENST00000313080 human ensembl 74_37 -1 known silent c.1467 p.R489 0.003 NULL pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF2 HGNC ENSG00000129667 170 0 0 106 13 10.9244 SHBG 0 genome.wustl.edu 37 17 7535245 7535245 + Missense_Mutation SNP G G C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 17 7535245 7535245 G C SNP SHBG ENST00000380450 human ensembl 74_37 +1 known missense c.764 p.G255A 0.503 superfamily_ConA-like_lec_gl_sf pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors SHBG HGNC ENSG00000129214 516 1 0.193424 135 169 55.5921 TP53 0 genome.wustl.edu 37 17 7576897 7576897 + Nonsense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 17 7576897 7576897 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.949 p.Q317* 0.012 NULL 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 130 0 0 42 52 55.3191 DNAH17 0 genome.wustl.edu 37 17 76437168 76437168 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 17 76437168 76437168 G A SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.11600 p.P3867L 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 26 0 0 19 7 26.9231 CCDC178 0 genome.wustl.edu 37 18 30672872 30672872 + Missense_Mutation SNP T T A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 18 30672872 30672872 T A SNP CCDC178 ENST00000406524 human ensembl 74_37 -1 known missense c.2241 p.K747N 0.001 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 30 0 0 8 4 33.3333 CCDC178 0 genome.wustl.edu 37 18 30846889 30846889 + Missense_Mutation SNP G G T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 18 30846889 30846889 G T SNP CCDC178 ENST00000406524 human ensembl 74_37 -1 known missense c.1400 p.T467N 0.126 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 31 0 0 6 6 50 SLC1A6 0 genome.wustl.edu 37 19 15072963 15072963 + Silent SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 19 15072963 15072963 G A SNP SLC1A6 ENST00000221742 human ensembl 74_37 -1 known silent c.786 p.S262 0.072 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A6 HGNC ENSG00000105143 171 0 0 82 10 10.8696 OR10H2 0 genome.wustl.edu 37 19 15839756 15839756 + Silent SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 19 15839756 15839756 C T SNP OR10H2 ENST00000305899 human ensembl 74_37 +1 known silent c.903 p.A301 0.001 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H2 HGNC ENSG00000171942 91 0 0 42 4 8.69565 ZNF493 0 genome.wustl.edu 37 19 21607715 21607715 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 19 21607715 21607715 C T SNP ZNF493 ENST00000355504 human ensembl 74_37 +1 known missense c.1870 p.R624W 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF493 HGNC ENSG00000196268 84 0 0 27 10 27.027 STRN4 0 genome.wustl.edu 37 19 47234126 47234126 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 19 47234126 47234126 C T SNP STRN4 ENST00000391910 human ensembl 74_37 -1 known missense c.742 p.A248T 1.000 NULL pfam_WD40_repeat,pfam_Striatin_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors STRN4 HGNC ENSG00000090372 181 0 0 150 15 9.09091 MADCAM1 0 genome.wustl.edu 37 19 501810 501810 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 19 501810 501810 C T SNP MADCAM1 ENST00000215637 human ensembl 74_37 +1 known missense c.809 p.P270L 0.000 NULL pfam_Adhes-Ig-like,smart_Ig_sub,pfscan_Ig-like_dom - no_errors MADCAM1 HGNC ENSG00000099866 8 0 0 2 6 75 SYT3 0 genome.wustl.edu 37 19 51132647 51132647 + Silent SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 19 51132647 51132647 G A SNP SYT3 ENST00000338916 human ensembl 74_37 -1 known silent c.1185 p.H395 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors SYT3 HGNC ENSG00000213023 44 0 0 16 15 48.3871 CLEC11A 0 genome.wustl.edu 37 19 51228685 51228685 + Nonsense_Mutation SNP C C A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 19 51228685 51228685 C A SNP CLEC11A ENST00000250340 human ensembl 74_37 +1 known nonsense c.933 p.C311* 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC11A HGNC ENSG00000105472 33 0 0 15 6 28.5714 PTPRS 0 genome.wustl.edu 37 19 5265160 5265160 + Silent SNP A A G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 19 5265160 5265160 A G SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known silent c.427 p.L143 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 126 1 0.787402 37 14 27.451 ZNRF4 0 genome.wustl.edu 37 19 5456567 5456567 + Silent SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 19 5456567 5456567 G A SNP ZNRF4 ENST00000222033 human ensembl 74_37 +1 known silent c.1065 p.V355 0.562 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF4 HGNC ENSG00000105428 135 0 0 79 18 18.5567 ZIM2 0 genome.wustl.edu 37 19 57286430 57286430 + Silent SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 19 57286430 57286430 T G SNP ZIM2 ENST00000221722 human ensembl 74_37 -1 known silent c.1210 p.R404 0.000 NULL pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZIM2 HGNC ENSG00000269699 90 0 0 59 8 11.9403 LOC101929059 0 genome.wustl.edu 37 19 57301328 57301328 + RNA SNP G G T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 19 57301328 57301328 G T SNP LOC101929059 ENST00000594400 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors AC006115.3 Clone_based_vega_gene ENSG00000269793 16 0 0 19 3 13.6364 VN1R1 0 genome.wustl.edu 37 19 57967836 57967836 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 19 57967836 57967836 T G SNP VN1R1 ENST00000321039 human ensembl 74_37 -1 known missense c.19 p.K7Q 0.000 NULL pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R1 HGNC ENSG00000178201 81 0 0 58 5 7.93651 ZSCAN4 0 genome.wustl.edu 37 19 58190001 58190001 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 19 58190001 58190001 G A SNP ZSCAN4 ENST00000318203 human ensembl 74_37 +1 known missense c.1030 p.E344K 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN4 HGNC ENSG00000180532 151 0 0 78 25 24.2718 STXBP2 0 genome.wustl.edu 37 19 7707378 7707378 + Missense_Mutation SNP C C A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 19 7707378 7707378 C A SNP STXBP2 ENST00000221283 human ensembl 74_37 +1 known missense c.858 p.D286E 0.981 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP2 HGNC ENSG00000076944 341 0 0 183 31 14.486 ST6GAL2 0 genome.wustl.edu 37 2 107450508 107450508 + Silent SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 2 107450508 107450508 C T SNP ST6GAL2 ENST00000361686 human ensembl 74_37 -1 known silent c.1038 p.S346 0.997 pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC ENSG00000144057 196 0 0 118 8 6.34921 CCDC138 0 genome.wustl.edu 37 2 109429148 109429148 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 2 109429148 109429148 G A SNP CCDC138 ENST00000295124 human ensembl 74_37 +1 known missense c.917 p.R306H 1.000 NULL NULL - no_errors CCDC138 HGNC ENSG00000163006 131 0 0 80 10 11.1111 PQLC3 0 genome.wustl.edu 37 2 11318047 11318047 + RNA SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 2 11318047 11318047 G A SNP PQLC3 ENST00000487471 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors PQLC3 HGNC ENSG00000162976 16 0 0 21 6 22.2222 NCKAP5 0 genome.wustl.edu 37 2 133542769 133542769 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 2 133542769 133542769 T G SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.1615 p.S539R 0.593 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 217 1 0.458716 136 23 14.4654 ARHGAP15 0 genome.wustl.edu 37 2 144525825 144525825 + RNA SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 2 144525825 144525825 T G SNP ARHGAP15 ENST00000549060 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ARHGAP15 HGNC ENSG00000075884 16 0 0 6 5 45.4545 XIRP2 0 genome.wustl.edu 37 2 168103323 168103323 + Missense_Mutation SNP C C G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 2 168103323 168103323 C G SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.5421 p.D1807E 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 169 0 0 97 52 34.8993 MYO3B 0 genome.wustl.edu 37 2 171323173 171323173 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 2 171323173 171323173 G A SNP MYO3B ENST00000334231 human ensembl 74_37 +1 known missense c.2993 p.R998H 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3B HGNC ENSG00000071909 135 0 0 90 32 26.2295 TTN 0 genome.wustl.edu 37 2 179438783 179438783 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 2 179438783 179438783 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.64372 p.A21458T 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom 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 105 0 0 50 23 31.5068 TTN 0 genome.wustl.edu 37 2 179495978 179495978 + Missense_Mutation SNP C C G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 2 179495978 179495978 C G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.36093 p.E12031D 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 41 0 0 26 4 13.3333 ZNF804A 0 genome.wustl.edu 37 2 185802224 185802224 + Missense_Mutation SNP A A G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 2 185802224 185802224 A G SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.2101 p.N701D 0.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 76 0 0 46 4 8 ERBB4 0 genome.wustl.edu 37 2 212426722 212426722 + Missense_Mutation SNP A A G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 2 212426722 212426722 A G SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.2393 p.L798P 0.999 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 167 0 0 134 11 7.58621 ABCA12 0 genome.wustl.edu 37 2 215818800 215818800 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 2 215818800 215818800 C T SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.6425 p.R2142H 0.987 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 151 1 0.657895 119 12 9.16031 CXCR2 0 genome.wustl.edu 37 2 219000083 219000083 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 2 219000083 219000083 G A SNP CXCR2 ENST00000318507 human ensembl 74_37 +1 known missense c.559 p.V187I 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR2,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CXCR2 HGNC ENSG00000180871 131 0 0 112 14 11.1111 ALPP 0 genome.wustl.edu 37 2 233246019 233246019 + Silent SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 2 233246019 233246019 C T SNP ALPP ENST00000392027 human ensembl 74_37 +1 known silent c.1251 p.N417 1.000 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPP HGNC ENSG00000163283 87 0 0 68 9 11.6883 ANO7 0 genome.wustl.edu 37 2 242142897 242142897 + Silent SNP C C G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 2 242142897 242142897 C G SNP ANO7 ENST00000274979 human ensembl 74_37 +1 known silent c.1035 p.L345 0.990 pfam_Anoctamin pfam_Anoctamin - no_errors ANO7 HGNC ENSG00000146205 15 0 0 14 3 17.6471 WDR43 0 genome.wustl.edu 37 2 29137031 29137031 + Missense_Mutation SNP T T C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 2 29137031 29137031 T C SNP WDR43 ENST00000407426 human ensembl 74_37 +1 known missense c.703 p.Y235H 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR43 HGNC ENSG00000163811 48 0 0 49 6 10.9091 TTC27 0 genome.wustl.edu 37 2 32958967 32958967 + Missense_Mutation SNP G G T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 2 32958967 32958967 G T SNP TTC27 ENST00000317907 human ensembl 74_37 +1 known missense c.1306 p.V436L 1.000 NULL pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC27 HGNC ENSG00000018699 158 0 0 126 16 11.2676 LTBP1 0 genome.wustl.edu 37 2 33623444 33623444 + Silent SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 2 33623444 33623444 C T SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known silent c.5001 p.C1667 0.012 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 110 0 0 57 30 34.4828 EIF5B 0 genome.wustl.edu 37 2 99992890 99992890 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 2 99992890 99992890 G A SNP EIF5B ENST00000289371 human ensembl 74_37 +1 known missense c.1633 p.E545K 1.000 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 35 0 0 28 3 9.67742 EIF6 0 genome.wustl.edu 37 20 33868600 33868600 + Missense_Mutation SNP T T C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 20 33868600 33868600 T C SNP EIF6 ENST00000374436 human ensembl 74_37 -1 known missense c.226 p.T76A 1.000 pfam_eIF6,smart_eIF6,pirsf_eIF6,tigrfam_eIF6 pfam_eIF6,smart_eIF6,pirsf_eIF6,tigrfam_eIF6 - no_errors EIF6 HGNC ENSG00000242372 45 0 0 58 4 6.45161 UQCC1 0 genome.wustl.edu 37 20 33935043 33935043 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 20 33935043 33935043 C T SNP UQCC1 ENST00000374385 human ensembl 74_37 -1 known missense c.497 p.R166Q 1.000 pfam_Ubiq_cyt_c_chap/UPF0174 pfam_Ubiq_cyt_c_chap/UPF0174 - no_errors UQCC1 HGNC ENSG00000101019 215 0 0 262 16 5.7554 CPNE1 0 genome.wustl.edu 37 20 34213988 34213988 + RNA SNP G G C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 20 34213988 34213988 G C SNP CPNE1 ENST00000498814 human ensembl 74_37 -1 known rna NULL NULL 0.974 - - - no_errors CPNE1 HGNC ENSG00000214078 49 0 0 43 17 28.3333 PTPRT 0 genome.wustl.edu 37 20 40790013 40790013 + Nonsense_Mutation SNP G G T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 20 40790013 40790013 G T SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known nonsense c.2718 p.Y906* 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 142 0 0 142 13 8.3871 ZSWIM3 0 genome.wustl.edu 37 20 44486607 44486607 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 20 44486607 44486607 G A SNP ZSWIM3 ENST00000255152 human ensembl 74_37 +1 known missense c.143 p.R48H 1.000 NULL pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM - no_errors ZSWIM3 HGNC ENSG00000132801 140 0 0 145 19 11.5854 SYCP2 0 genome.wustl.edu 37 20 58450395 58450395 + Missense_Mutation SNP G G C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 20 58450395 58450395 G C SNP SYCP2 ENST00000357552 human ensembl 74_37 -1 known missense c.3280 p.R1094G 0.000 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 45 0 0 60 6 9.09091 OSBPL2 0 genome.wustl.edu 37 20 60847217 60847217 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 20 60847217 60847217 G A SNP OSBPL2 ENST00000313733 human ensembl 74_37 +1 known missense c.295 p.E99K 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd - no_errors OSBPL2 HGNC ENSG00000130703 108 0 0 113 6 5.04202 ADRM1 0 genome.wustl.edu 37 20 60883506 60883506 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 20 60883506 60883506 T G SNP ADRM1 ENST00000253003 human ensembl 74_37 +1 known missense c.1097 p.V366G 1.000 pfam_26S_Psome_Ubiquitin-recp_Rpn13 pfam_26S_Psome_Ubiquitin-recp_Rpn13 - no_errors ADRM1 HGNC ENSG00000130706 28 0 0 28 8 22.2222 POTED 0 genome.wustl.edu 37 21 14982839 14982839 + Missense_Mutation SNP A A C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 21 14982839 14982839 A C SNP POTED ENST00000299443 human ensembl 74_37 +1 known missense c.290 p.K97T 0.017 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTED HGNC ENSG00000166351 98 0 0 80 5 5.88235 CCT8 0 genome.wustl.edu 37 21 30433674 30433674 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 21 30433674 30433674 C T SNP CCT8 ENST00000286788 human ensembl 74_37 -1 known missense c.1349 p.R450H 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_theta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,tigrfam_Chap_CCT_theta - no_errors CCT8 HGNC ENSG00000156261 152 0 0 113 10 8.13008 GAL3ST1 0 genome.wustl.edu 37 22 30951855 30951855 + Silent SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 22 30951855 30951855 G A SNP GAL3ST1 ENST00000338911 human ensembl 74_37 -1 known silent c.357 p.T119 0.102 pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST1 HGNC ENSG00000128242 123 0 0 130 15 10.3448 CYTH4 0 genome.wustl.edu 37 22 37688719 37688719 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 22 37688719 37688719 G A SNP CYTH4 ENST00000248901 human ensembl 74_37 +1 known missense c.77 p.R26Q 1.000 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors CYTH4 HGNC ENSG00000100055 160 0 0 157 18 10.2857 SLC16A8 0 genome.wustl.edu 37 22 38474460 38474460 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 22 38474460 38474460 C T SNP SLC16A8 ENST00000320521 human ensembl 74_37 -1 known missense c.1450 p.A484T 0.991 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A8 HGNC ENSG00000100156 150 0 0 75 65 46.4286 SREBF2 0 genome.wustl.edu 37 22 42276858 42276858 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 22 42276858 42276858 G A SNP SREBF2 ENST00000361204 human ensembl 74_37 +1 known missense c.1900 p.V634M 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF2 HGNC ENSG00000198911 114 0 0 81 8 8.98876 KIAA1644 0 genome.wustl.edu 37 22 44681488 44681488 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 22 44681488 44681488 C T SNP KIAA1644 ENST00000381176 human ensembl 74_37 -1 putative missense c.419 p.R140Q 0.283 NULL NULL - no_errors KIAA1644 HGNC ENSG00000138944 282 0 0 186 72 27.907 NUP50 0 genome.wustl.edu 37 22 45564068 45564068 + Missense_Mutation SNP A A G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 22 45564068 45564068 A G SNP NUP50 ENST00000347635 human ensembl 74_37 +1 known missense c.10 p.R4G 1.000 pfam_NUP2/50/61 pfam_NUP2/50/61,pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors NUP50 HGNC ENSG00000093000 91 0 0 79 7 8.13953 SPICE1 0 genome.wustl.edu 37 3 113187981 113187981 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 3 113187981 113187981 G A SNP SPICE1 ENST00000295872 human ensembl 74_37 -1 known missense c.716 p.T239M 0.311 NULL NULL - no_errors SPICE1 HGNC ENSG00000163611 195 0 0 137 33 19.4118 GOLGB1 0 genome.wustl.edu 37 3 121448164 121448164 + Missense_Mutation SNP G G C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 3 121448164 121448164 G C SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known missense c.273 p.N91K 0.191 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 194 0 0 162 13 7.42857 MSL2 0 genome.wustl.edu 37 3 135870294 135870294 + Nonsense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 3 135870294 135870294 G A SNP MSL2 ENST00000309993 human ensembl 74_37 -1 known nonsense c.1429 p.R477* 1.000 NULL pfscan_Znf_RING - no_errors MSL2 HGNC ENSG00000174579 88 0 0 55 17 23.6111 U2SURP 0 genome.wustl.edu 37 3 142756989 142756989 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 3 142756989 142756989 T G SNP U2SURP ENST00000473835 human ensembl 74_37 +1 known missense c.2261 p.F754C 1.000 NULL pfam_Surp,pfam_RRM_dom,superfamily_Surp,superfamily_ENTH_VHS,smart_RRM_dom,smart_Surp,smart_CID_dom,pfscan_Surp,pfscan_RRM_dom - no_errors U2SURP HGNC ENSG00000163714 22 0 0 9 3 25 P2RY14 0 genome.wustl.edu 37 3 150931143 150931143 + Missense_Mutation SNP T T C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 3 150931143 150931143 T C SNP P2RY14 ENST00000309170 human ensembl 74_37 -1 known missense c.962 p.D321G 0.393 NULL pfam_GPCR_Rhodpsn,prints_P2Y14_rcpt,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors P2RY14 HGNC ENSG00000174944 287 0 0 214 30 12.2951 IGSF10 0 genome.wustl.edu 37 3 151156235 151156235 + Silent SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 3 151156235 151156235 G A SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known silent c.6114 p.A2038 0.998 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 191 0 0 144 11 7.09677 FNDC3B 0 genome.wustl.edu 37 3 172061989 172061989 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 3 172061989 172061989 G A SNP FNDC3B ENST00000336824 human ensembl 74_37 +1 known missense c.2191 p.G731S 0.990 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3B HGNC ENSG00000075420 294 0 0 207 57 21.5909 ECE2 0 genome.wustl.edu 37 3 184008402 184008402 + Silent SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 3 184008402 184008402 C T SNP ECE2 ENST00000402825 human ensembl 74_37 +1 known silent c.2067 p.I689 0.230 pfam_Peptidase_M13_C,prints_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C - no_errors ECE2 HGNC ENSG00000145194 203 0 0 99 67 40.3614 IGF2BP2 0 genome.wustl.edu 37 3 185369933 185369933 + Silent SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 3 185369933 185369933 G A SNP IGF2BP2 ENST00000382199 human ensembl 74_37 -1 known silent c.1410 p.D470 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP2 HGNC ENSG00000073792 77 0 0 42 16 27.5862 UBE2E1 0 genome.wustl.edu 37 3 23848739 23848739 + RNA SNP G G T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 3 23848739 23848739 G T SNP UBE2E1 ENST00000481622 human ensembl 74_37 +1 putative rna NULL NULL 0.021 - - - no_errors UBE2E1 HGNC ENSG00000170142 36 0 0 19 3 13.6364 MITF 0 genome.wustl.edu 37 3 70014029 70014029 + Missense_Mutation SNP T T C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 3 70014029 70014029 T C SNP MITF ENST00000448226 human ensembl 74_37 +1 known missense c.1211 p.L404P 1.000 pfam_bHLH_ZIP_TF_MiT/TFE pfam_bHLH_ZIP_TF_MiT/TFE,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MITF HGNC ENSG00000187098 198 0 0 136 23 14.4654 EPHA3 0 genome.wustl.edu 37 3 89259476 89259476 + Missense_Mutation SNP A A C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 3 89259476 89259476 A C SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known missense c.620 p.K207T 1.000 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA3 HGNC ENSG00000044524 216 0 0 135 17 11.1842 EPHA3 0 genome.wustl.edu 37 3 89468391 89468391 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 3 89468391 89468391 T G SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known missense c.1925 p.L642R 1.000 pirsf_Tyr_kinase_ephrin_rcpt,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 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA3 HGNC ENSG00000044524 88 0 0 93 19 16.9643 EMCN 0 genome.wustl.edu 37 4 101396258 101396258 + Missense_Mutation SNP T T A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 4 101396258 101396258 T A SNP EMCN ENST00000296420 human ensembl 74_37 -1 known missense c.196 p.T66S 0.008 pfam_Endomucin pfam_Endomucin - no_errors EMCN HGNC ENSG00000164035 55 0 0 16 2 11.1111 NT5C3AP1 0 genome.wustl.edu 37 4 118496653 118496653 + RNA SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 4 118496653 118496653 G A SNP NT5C3AP1 ENST00000441170 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors NT5C3AP1 HGNC ENSG00000213492 103 0 0 69 15 17.8571 FAT4 0 genome.wustl.edu 37 4 126240751 126240751 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 4 126240751 126240751 T G SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.3185 p.L1062R 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 333 0 0 168 29 14.7208 FAT4 0 genome.wustl.edu 37 4 126371122 126371122 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 4 126371122 126371122 T G SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.8951 p.L2984R 0.700 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 139 0 0 75 8 9.63855 HSPA4L 0 genome.wustl.edu 37 4 128726846 128726846 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 4 128726846 128726846 C T SNP HSPA4L ENST00000439123 human ensembl 74_37 +1 known missense c.1235 p.A412V 1.000 pfam_Hsp_70_fam,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA4L HGNC ENSG00000164070 125 0 0 43 7 14 PCDH18 0 genome.wustl.edu 37 4 138452730 138452730 + Silent SNP G G C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 4 138452730 138452730 G C SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known silent c.513 p.L171 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 79 0 0 53 9 14.5161 FGA 0 genome.wustl.edu 37 4 155508714 155508714 + Missense_Mutation SNP G G T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 4 155508714 155508714 G T SNP FGA ENST00000302053 human ensembl 74_37 -1 known missense c.460 p.L154I 0.123 pfam_Fibrinogen_a/b/g_coil_dom pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGA HGNC ENSG00000171560 165 0 0 99 8 7.47664 FSTL5 0 genome.wustl.edu 37 4 162680664 162680664 + Missense_Mutation SNP A A G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 4 162680664 162680664 A G SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known missense c.626 p.L209P 1.000 pfscan_EF_hand_dom pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 116 0 0 70 6 7.89474 TENM3 0 genome.wustl.edu 37 4 183714348 183714348 + Missense_Mutation SNP T T C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 4 183714348 183714348 T C SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.6523 p.Y2175H 1.000 superfamily_Cyt_c-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 218 0 0 59 20 25.3165 TRIML1 0 genome.wustl.edu 37 4 189068074 189068074 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 4 189068074 189068074 G A SNP TRIML1 ENST00000332517 human ensembl 74_37 +1 known missense c.955 p.D319N 0.988 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIML1 HGNC ENSG00000184108 212 0 0 123 18 12.766 EPHA5 0 genome.wustl.edu 37 4 66197825 66197825 + Silent SNP T T C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 4 66197825 66197825 T C SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known silent c.2874 p.E958 0.996 pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 64 0 0 34 6 15 EPHA5 0 genome.wustl.edu 37 4 66231771 66231771 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 4 66231771 66231771 T G SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known missense c.1929 p.K643N 1.000 pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 66 0 0 39 4 9.30233 GC 0 genome.wustl.edu 37 4 72620134 72620134 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 4 72620134 72620134 T G SNP GC ENST00000273951 human ensembl 74_37 -1 known missense c.1256 p.K419T 1.000 pfam_VitD-bind_III,superfamily_Serum_albumin-like,prints_VitD-bd pfam_Serum_albumin_N,pfam_VitD-bind_III,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_VitD-bd,prints_ALB/AFP/VDB - no_errors GC HGNC ENSG00000145321 16 0 0 6 3 33.3333 CPZ 0 genome.wustl.edu 37 4 8602891 8602891 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 4 8602891 8602891 G A SNP CPZ ENST00000360986 human ensembl 74_37 +1 known missense c.163 p.A55T 0.002 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,prints_Peptidase_M14,pfscan_Frizzled_dom - no_errors CPZ HGNC ENSG00000109625 99 0 0 59 13 18.0556 PDHA2 0 genome.wustl.edu 37 4 96761480 96761480 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 4 96761480 96761480 T G SNP PDHA2 ENST00000295266 human ensembl 74_37 +1 known missense c.179 p.L60R 0.964 tigrfam_Pyrv_DH_E1_asu_subgrp-y pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y - no_errors PDHA2 HGNC ENSG00000163114 102 0 0 52 6 10.3448 PCDHB10 0 genome.wustl.edu 37 5 140572542 140572542 + Silent SNP C C G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 5 140572542 140572542 C G SNP PCDHB10 ENST00000239446 human ensembl 74_37 +1 known silent c.417 p.V139 0.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB10 HGNC ENSG00000120324 223 0 0 130 28 17.7215 PCDHGA8 0 genome.wustl.edu 37 5 140773068 140773068 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 5 140773068 140773068 G A SNP PCDHGA8 ENST00000398604 human ensembl 74_37 +1 known missense c.688 p.V230M 0.466 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC ENSG00000253767 169 0 0 48 46 48.9362 GABRA1 0 genome.wustl.edu 37 5 161322857 161322857 + Missense_Mutation SNP A A G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 5 161322857 161322857 A G SNP GABRA1 ENST00000023897 human ensembl 74_37 +1 known missense c.1042 p.S348G 1.000 superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 211 0 0 114 10 8.06452 CDH12 0 genome.wustl.edu 37 5 21854792 21854792 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 5 21854792 21854792 C T SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known missense c.634 p.D212N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 58 0 0 74 9 10.8434 AGXT2 0 genome.wustl.edu 37 5 35033594 35033594 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 5 35033594 35033594 C T SNP AGXT2 ENST00000231420 human ensembl 74_37 -1 known missense c.646 p.E216K 0.000 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase - no_errors AGXT2 HGNC ENSG00000113492 90 0 0 112 6 5.08475 UGT3A1 0 genome.wustl.edu 37 5 35991412 35991412 + RNA SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 5 35991412 35991412 C T SNP UGT3A1 ENST00000513233 human ensembl 74_37 -1 putative rna NULL NULL 0.001 - - - no_errors UGT3A1 HGNC ENSG00000145626 44 0 0 52 9 14.7541 ASCC3 0 genome.wustl.edu 37 6 101246604 101246604 + Missense_Mutation SNP G G C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 6 101246604 101246604 G C SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known missense c.1380 p.I460M 0.954 superfamily_P-loop_NTPase pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 127 0 0 82 7 7.86517 MUC21 0 genome.wustl.edu 37 6 30955932 30955932 + Silent SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 6 30955932 30955932 G A SNP MUC21 ENST00000376296 human ensembl 74_37 +1 known silent c.1662 p.S554 0.000 NULL NULL - no_errors MUC21 HGNC ENSG00000204544 66 0 0 26 11 29.7297 TNXB 0 genome.wustl.edu 37 6 32015679 32015679 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 6 32015679 32015679 C T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.10150 p.V3384M 0.658 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 74 0 0 54 6 10 BRD2 0 genome.wustl.edu 37 6 32945673 32945673 + Missense_Mutation SNP C C G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 6 32945673 32945673 C G SNP BRD2 ENST00000395289 human ensembl 74_37 +1 known missense c.1469 p.S490C 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD2 HGNC ENSG00000204256 123 0 0 66 47 41.5929 SCUBE3 0 genome.wustl.edu 37 6 35199583 35199583 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 6 35199583 35199583 G A SNP SCUBE3 ENST00000394681 human ensembl 74_37 +1 known missense c.416 p.R139Q 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors SCUBE3 HGNC ENSG00000146197 131 0 0 78 10 11.3636 NCR2 0 genome.wustl.edu 37 6 41309551 41309551 + Silent SNP C C A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 6 41309551 41309551 C A SNP NCR2 ENST00000373089 human ensembl 74_37 +1 known silent c.414 p.T138 0.205 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors NCR2 HGNC ENSG00000096264 178 1 0.558659 143 12 7.74194 RIMS1 0 genome.wustl.edu 37 6 72678732 72678732 + Silent SNP A A C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 6 72678732 72678732 A C SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known silent c.211 p.R71 1.000 superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 126 0 0 96 14 12.7273 KCNQ5 0 genome.wustl.edu 37 6 73751677 73751677 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 6 73751677 73751677 G A SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known missense c.508 p.V170I 1.000 pfam_Ion_trans_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 431 0 0 270 119 30.5913 EEF1A1 0 genome.wustl.edu 37 6 74229182 74229182 + Missense_Mutation SNP C C G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 6 74229182 74229182 C G SNP EEF1A1 ENST00000309268 human ensembl 74_37 -1 known missense c.202 p.E68Q 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc - no_errors EEF1A1 HGNC ENSG00000156508 231 0 0 150 47 23.8579 TBX18 0 genome.wustl.edu 37 6 85470009 85470009 + Missense_Mutation SNP G G C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 6 85470009 85470009 G C SNP TBX18 ENST00000369663 human ensembl 74_37 -1 known missense c.563 p.A188G 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX18 HGNC ENSG00000112837 53 0 0 40 6 13.0435 POLR2J3 0 genome.wustl.edu 37 7 102212758 102212758 + RNA SNP G G T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 7 102212758 102212758 G T SNP POLR2J3 ENST00000504157 human ensembl 74_37 -1 known rna NULL NULL 0.014 - - - no_errors POLR2J3 HGNC ENSG00000168255 8 0 0 15 9 37.5 NAPEPLD 0 genome.wustl.edu 37 7 102760348 102760348 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 7 102760348 102760348 T G SNP NAPEPLD ENST00000455523 human ensembl 74_37 -1 known missense c.836 p.E279A 0.730 NULL NULL - no_errors NAPEPLD HGNC ENSG00000161048 234 0 0 343 23 6.28415 FASTK 0 genome.wustl.edu 37 7 150774790 150774790 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 7 150774790 150774790 G A SNP FASTK ENST00000297532 human ensembl 74_37 -1 known missense c.1117 p.R373W 0.993 pfam_FAST_2 pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTK HGNC ENSG00000164896 72 0 0 74 4 5.12821 KMT2C 0 genome.wustl.edu 37 7 151860470 151860470 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 7 151860470 151860470 G A SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.10192 p.R3398W 1.000 NULL 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 323 0 0 375 30 7.40741 PTPRN2 0 genome.wustl.edu 37 7 157874063 157874063 + Silent SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 7 157874063 157874063 G A SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known silent c.1719 p.L573 0.600 pfam_Receptor_IA-2 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 134 0 0 130 11 7.80142 NME8 0 genome.wustl.edu 37 7 37907401 37907401 + Missense_Mutation SNP C C A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 7 37907401 37907401 C A SNP NME8 ENST00000199447 human ensembl 74_37 +1 known missense c.719 p.T240N 0.000 superfamily_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase - no_errors NME8 HGNC ENSG00000086288 102 0 0 90 8 8.16327 PCLO 0 genome.wustl.edu 37 7 82585562 82585562 + Silent SNP A A C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 7 82585562 82585562 A C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.4707 p.A1569 0.936 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 213 0 0 318 19 5.63798 PCLO 0 genome.wustl.edu 37 7 82586037 82586037 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 7 82586037 82586037 T G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.4232 p.K1411T 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 108 1 0.917431 131 8 5.7554 COL1A2 0 genome.wustl.edu 37 7 94038701 94038701 + Missense_Mutation SNP T T A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 7 94038701 94038701 T A SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known missense c.860 p.L287H 0.999 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 204 0 0 279 19 6.37584 COPS6 0 genome.wustl.edu 37 7 99689073 99689073 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 7 99689073 99689073 G A SNP COPS6 ENST00000303904 human ensembl 74_37 +1 known missense c.773 p.R258Q 1.000 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors COPS6 HGNC ENSG00000168090 224 0 0 295 18 5.7508 RIMS2 0 genome.wustl.edu 37 8 104898169 104898169 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 8 104898169 104898169 T G SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.1342 p.L448V 0.117 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 74 0 0 96 14 12.7273 PKHD1L1 0 genome.wustl.edu 37 8 110491840 110491840 + Missense_Mutation SNP C C G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 8 110491840 110491840 C G SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.9150 p.H3050Q 0.015 pfam_G8_domain pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 10 0 0 2 9 81.8182 KCNV1 0 genome.wustl.edu 37 8 110980483 110980483 + Missense_Mutation SNP C C G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 8 110980483 110980483 C G SNP KCNV1 ENST00000297404 human ensembl 74_37 -1 known missense c.1337 p.R446T 1.000 NULL pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC ENSG00000164794 105 0 0 86 22 20.3704 ZHX2 0 genome.wustl.edu 37 8 123965484 123965484 + Silent SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 8 123965484 123965484 G A SNP ZHX2 ENST00000314393 human ensembl 74_37 +1 known silent c.1734 p.S578 0.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZHX2 HGNC ENSG00000178764 160 0 0 147 18 10.9091 WISP1 0 genome.wustl.edu 37 8 134232923 134232923 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 8 134232923 134232923 C T SNP WISP1 ENST00000250160 human ensembl 74_37 +1 known missense c.449 p.A150V 0.996 pfam_VWF_C,smart_VWF_C,pirsf_IGFBP_CNN,pfscan_VWF_C pfam_IGFBP-like,pfam_VWF_C,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors WISP1 HGNC ENSG00000104415 170 0 0 126 40 24.0964 COL22A1 0 genome.wustl.edu 37 8 139626133 139626133 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 8 139626133 139626133 G A SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known missense c.3955 p.P1319S 0.993 pfam_Collagen pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 321 0 0 263 18 6.40569 DENND3 0 genome.wustl.edu 37 8 142188188 142188188 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 8 142188188 142188188 C T SNP DENND3 ENST00000262585 human ensembl 74_37 +1 known missense c.2489 p.A830V 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom - no_errors DENND3 HGNC ENSG00000105339 103 0 0 99 40 28.777 PXDNL 0 genome.wustl.edu 37 8 52322010 52322010 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 8 52322010 52322010 G A SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.2174 p.A725V 0.778 superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 69 0 0 53 14 20.8955 FAM110B 0 genome.wustl.edu 37 8 59059176 59059176 + Silent SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 8 59059176 59059176 G A SNP FAM110B ENST00000361488 human ensembl 74_37 +1 known silent c.387 p.E129 0.996 NULL NULL - no_errors FAM110B HGNC ENSG00000169122 49 0 0 45 7 13.4615 ACTL7B 0 genome.wustl.edu 37 9 111618016 111618016 + Silent SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 9 111618016 111618016 G A SNP ACTL7B ENST00000374667 human ensembl 74_37 -1 known silent c.195 p.Y65 0.404 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL7B HGNC ENSG00000148156 298 1 0.334448 160 111 40.9594 SVEP1 0 genome.wustl.edu 37 9 113173353 113173353 + Missense_Mutation SNP C C A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 9 113173353 113173353 C A SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.6638 p.G2213V 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 84 0 0 47 11 18.9655 OR1L3 0 genome.wustl.edu 37 9 125437503 125437503 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 9 125437503 125437503 T G SNP OR1L3 ENST00000304820 human ensembl 74_37 +1 known missense c.95 p.L32R 0.407 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L3 HGNC ENSG00000171481 223 0 0 160 26 13.9785 ABL1 0 genome.wustl.edu 37 9 133759379 133759379 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 9 133759379 133759379 G A SNP ABL1 ENST00000372348 human ensembl 74_37 +1 known missense c.1759 p.V587M 0.996 NULL pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL1 HGNC ENSG00000097007 227 0 0 167 17 9.23913 SMU1 0 genome.wustl.edu 37 9 33068845 33068845 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 9 33068845 33068845 G A SNP SMU1 ENST00000397149 human ensembl 74_37 -1 known missense c.478 p.R160C 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_Nucleoporin_Nup160,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors SMU1 HGNC ENSG00000122692 87 0 0 49 32 39.5062 SPATA31A6 0 genome.wustl.edu 37 9 43624889 43624889 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 9 43624889 43624889 T G SNP SPATA31A6 ENST00000332857 human ensembl 74_37 -1 known missense c.3798 p.Q1266H 0.000 NULL NULL - no_errors SPATA31A6 HGNC ENSG00000185775 257 0 0 266 14 5 SPATA31A6 0 genome.wustl.edu 37 9 43627131 43627131 + Missense_Mutation SNP A A T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 9 43627131 43627131 A T SNP SPATA31A6 ENST00000332857 human ensembl 74_37 -1 known missense c.1556 p.V519E 0.000 NULL NULL - no_errors SPATA31A6 HGNC ENSG00000185775 323 0 0 311 55 15.0273 PCSK5 0 genome.wustl.edu 37 9 78601082 78601082 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 9 78601082 78601082 G A SNP PCSK5 ENST00000545128 human ensembl 74_37 +1 known missense c.332 p.R111Q 1.000 NULL pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 121 0 0 59 44 42.7184 NTRK2 0 genome.wustl.edu 37 9 87570233 87570233 + Missense_Mutation SNP G G A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 9 87570233 87570233 G A SNP NTRK2 ENST00000277120 human ensembl 74_37 +1 known missense c.1973 p.G658D 1.000 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2 - no_errors NTRK2 HGNC ENSG00000148053 20 0 0 11 3 21.4286 SPANXC 0 genome.wustl.edu 37 X 140335818 140335818 + Missense_Mutation SNP C C A TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b X 140335818 140335818 C A SNP SPANXC ENST00000358993 human ensembl 74_37 -1 known missense c.126 p.M42I 0.002 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXC HGNC ENSG00000198573 49 0 0 36 22 37.931 DMD 0 genome.wustl.edu 37 X 32381009 32381009 + Missense_Mutation SNP A A C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b X 32381009 32381009 A C SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.5221 p.L1741V 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 56 0 0 79 11 12.2222 DMD 0 genome.wustl.edu 37 X 32430012 32430012 + Missense_Mutation SNP A A C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b X 32430012 32430012 A C SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.4090 p.L1364V 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 31 0 0 27 7 20.5882 CHDC2 0 genome.wustl.edu 37 X 36122739 36122739 + Missense_Mutation SNP A A T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b X 36122739 36122739 A T SNP CHDC2 ENST00000313548 human ensembl 74_37 +1 known missense c.976 p.I326F 0.841 pfam_CH-domain,superfamily_CH-domain pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain - no_errors CHDC2 HGNC ENSG00000176034 64 0 0 63 13 17.1053 USP11 0 genome.wustl.edu 37 X 47104245 47104245 + Missense_Mutation SNP C C T TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b X 47104245 47104245 C T SNP USP11 ENST00000218348 human ensembl 74_37 +1 known missense c.2137 p.R713C 0.843 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67 - no_errors USP11 HGNC ENSG00000102226 43 0 0 14 25 64.1026 FTSJ1 0 genome.wustl.edu 37 X 48336427 48336427 + RNA SNP G G C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b X 48336427 48336427 G C SNP FTSJ1 ENST00000485486 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors FTSJ1 HGNC ENSG00000068438 39 0 0 28 7 20 MAGEH1 0 genome.wustl.edu 37 X 55479467 55479467 + Nonstop_Mutation SNP A A C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b X 55479467 55479467 A C SNP MAGEH1 ENST00000342972 human ensembl 74_37 +1 known nonstop c.660 p.*220Y 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEH1 HGNC ENSG00000187601 77 0 0 75 8 9.63855 XIST 0 genome.wustl.edu 37 X 73045157 73045157 + RNA SNP G G C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b X 73045157 73045157 G C SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 44 0 0 42 7 14.2857 CYLC1 0 genome.wustl.edu 37 X 83128879 83128879 + Missense_Mutation SNP A A C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b X 83128879 83128879 A C SNP CYLC1 ENST00000329312 human ensembl 74_37 +1 known missense c.1163 p.K388T 0.085 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 9 0 0 11 6 35.2941 KAL1 0 genome.wustl.edu 37 X 8555953 8555953 + Missense_Mutation SNP T T G TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b X 8555953 8555953 T G SNP KAL1 ENST00000262648 human ensembl 74_37 -1 known missense c.608 p.K203T 0.592 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_WAP-type_4-diS_core - no_errors KAL1 HGNC ENSG00000011201 19 0 0 32 7 17.9487 USPL1 0 genome.wustl.edu 37 13 31232181 31232181 + Frame_Shift_Del DEL C C - TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 13 31232181 31232181 C - DEL USPL1 ENST00000255304 human ensembl 74_37 +1 known frame_shift_del c.1967 p.Q657fs 0.001 NULL pfscan_Peptidase_C19/C67 - no_errors USPL1 HGNC ENSG00000132952 161 0 0 172 23 11.7949 MEX3B 0 genome.wustl.edu 37 15 82336855 82336857 + In_Frame_Del DEL TCC TCC - TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 15 82336855 82336857 TCC - DEL MEX3B ENST00000329713 human ensembl 74_37 -1 known in_frame_del c.356_354 p.E118in_frame_del 1.000:1.000:1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3B HGNC ENSG00000183496 83 0 0 27 8 22.8571 TTL 0 genome.wustl.edu 37 2 113251822 113251826 + Frame_Shift_Del DEL GAATG GAATG - TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 GAATG GAATG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 2 113251822 113251826 GAATG - DEL TTL ENST00000233336 human ensembl 74_37 +1 known frame_shift_del c.339_343 p.G115fs 0.981:1.000:1.000:1.000:1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTL HGNC ENSG00000114999 101 0 0 70 12 14.6341 ABCF2 0 genome.wustl.edu 37 7 150923518 150923520 + In_Frame_Del DEL CTT CTT - TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 7 150923518 150923520 CTT - DEL ABCF2 ENST00000222388 human ensembl 74_37 -1 known in_frame_del c.27_25 p.K9in_frame_del 1.000:1.000:1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF2 HGNC ENSG00000033050 169 0 0 162 19 10.4972 TRAPPC9 0 genome.wustl.edu 37 8 141468621 141468622 + Frame_Shift_Ins INS - - C TCGA-CG-4436-01A-01D-1158-08 TCGA-CG-4436-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bdc1981a-f12f-47b8-a23a-439aaac8c9ce 27c8e775-c1fc-4bfa-b1e4-f0b353eff25b 8 141468621 141468622 - C INS TRAPPC9 ENST00000389328 human ensembl 74_37 -1 known frame_shift_ins c.43_42 p.K14fs 0.019:0.021 NULL pfam_TRAPP_II_complex_Trs120 - no_errors TRAPPC9 HGNC ENSG00000167632 14 0 0 18 2 10