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 ACAN 0 genome.wustl.edu 37 15 89400477 89400477 + Missense_Mutation SNP G G T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 15 89400477 89400477 G T SNP ACAN ENST00000439576 human ensembl 74_37 +1 known missense c.4661 p.G1554V 0.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors ACAN HGNC ENSG00000157766 56 0 0.00 55 10 15.38 ADAMTSL4 0 genome.wustl.edu 37 1 150524368 150524368 + RNA DEL A A - TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 1 150524368 150524368 A - DEL ADAMTSL4 ENST00000483335 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ADAMTSL4 HGNC ENSG00000143382 tier1 10 0 0.00 8 3 27.27 AHNAK 0 genome.wustl.edu 37 11 62297376 62297376 + Missense_Mutation SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 11 62297376 62297376 C T SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.4513 p.D1505N 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 tier1 - - 99 0 0.00 84 26 23.64 ALG5 0 genome.wustl.edu 37 13 37563687 37563687 + Nonsense_Mutation SNP A A T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 13 37563687 37563687 A T SNP ALG5 ENST00000239891 human ensembl 74_37 -1 known nonsense c.381 p.Y127* 0.747 pfam_Glyco_trans_2 pfam_Glyco_trans_2 - no_errors ALG5 HGNC ENSG00000120697 30 0 0.00 24 2 7.69 AMDHD1 0 genome.wustl.edu 37 12 96350709 96350709 + Missense_Mutation SNP G G A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 12 96350709 96350709 G A SNP AMDHD1 ENST00000266736 human ensembl 74_37 +1 known missense c.556 p.A186T 0.985 superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI - no_errors AMDHD1 HGNC ENSG00000139344 25 0 0.00 37 4 9.76 ANKRD17 0 genome.wustl.edu 37 4 73951038 73951038 + Missense_Mutation SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 4 73951038 73951038 C T SNP ANKRD17 ENST00000358602 human ensembl 74_37 -1 known missense c.7087 p.A2363T 0.005 NULL pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKRD17 HGNC ENSG00000132466 43 0 0.00 36 3 7.69 ANKRD24 0 genome.wustl.edu 37 19 4210081 4210081 + Missense_Mutation SNP G G T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 19 4210081 4210081 G T SNP ANKRD24 ENST00000318934 human ensembl 74_37 +1 known missense c.897 p.Q299H 0.005 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD24 HGNC ENSG00000089847 tier1 - - 82 0 0.00 63 4 5.97 ANKRD66 0 genome.wustl.edu 37 6 46721477 46721477 + Missense_Mutation SNP G G A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 6 46721477 46721477 G A SNP ANKRD66 ENST00000565422 human ensembl 74_37 +1 known missense c.347 p.R116Q 0.023 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD66 HGNC ENSG00000230062 tier1 - - 48 0 0.00 20 26 56.52 ANO3 0 genome.wustl.edu 37 11 26569083 26569083 + Missense_Mutation SNP T T A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 11 26569083 26569083 T A SNP ANO3 ENST00000256737 human ensembl 74_37 +1 known missense c.1275 p.N425K 0.968 pfam_Anoctamin pfam_Anoctamin - no_errors ANO3 HGNC ENSG00000134343 tier1 - - 59 0 0.00 23 16 41.03 APOL2 0 genome.wustl.edu 37 22 36633075 36633075 + RNA SNP G G A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 22 36633075 36633075 G A SNP APOL2 ENST00000473549 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors APOL2 HGNC ENSG00000128335 tier1 - - 11 0 0.00 6 4 40.00 ARHGAP9 0 genome.wustl.edu 37 12 57869326 57869326 + Missense_Mutation SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 12 57869326 57869326 C T SNP ARHGAP9 ENST00000356411 human ensembl 74_37 -1 known missense c.1441 p.E481K 0.888 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP9 HGNC ENSG00000123329 38 0 0.00 38 2 5.00 ARL14EP 0 genome.wustl.edu 37 11 30352585 30352585 + Silent SNP T T A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 11 30352585 30352585 T A SNP ARL14EP ENST00000282032 human ensembl 74_37 +1 known silent c.90 p.T30 0.997 NULL NULL - no_errors ARL14EP HGNC ENSG00000152219 tier1 - - 19 0 0.00 9 4 30.77 ATAD5 0 genome.wustl.edu 37 17 29161960 29161960 + Missense_Mutation SNP G G T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 17 29161960 29161960 G T SNP ATAD5 ENST00000321990 human ensembl 74_37 +1 known missense c.861 p.M287I 0.000 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD5 HGNC ENSG00000176208 9 0 0.00 20 3 13.04 ATP8B1 0 genome.wustl.edu 37 18 55334329 55334329 + Silent SNP A A G TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 18 55334329 55334329 A G SNP ATP8B1 ENST00000283684 human ensembl 74_37 -1 known silent c.2280 p.D760 0.993 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B1 HGNC ENSG00000081923 tier1 - - 19 0 0.00 22 7 24.14 B4GALT7 0 genome.wustl.edu 37 5 177036632 177036632 + Missense_Mutation SNP G G A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 5 177036632 177036632 G A SNP B4GALT7 ENST00000029410 human ensembl 74_37 +1 known missense c.920 p.C307Y 1.000 NULL pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT7 HGNC ENSG00000027847 tier1 - - 39 0 0.00 41 4 8.89 C18orf61 0 genome.wustl.edu 37 18 12212039 12212039 + RNA SNP A A G TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 18 12212039 12212039 A G SNP C18orf61 ENST00000586642 human ensembl 74_37 +1 known rna NULL NULL 0.760 - - - no_errors RP11-64C12.3 Clone_based_vega_gene ENSG00000267733 41 0 0.00 51 5 8.93 C20orf112 0 genome.wustl.edu 37 20 31041555 31041556 + Frame_Shift_Ins INS - - G TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 20 31041555 31041556 - G INS C20orf112 ENST00000359676 human ensembl 74_37 -1 known frame_shift_ins c.397_396 p.Y132fs 0.997:0.034 NULL NULL - no_errors C20orf112 HGNC ENSG00000197183 tier1 24 0 0.00 19 5 20.83 C5orf42 0 genome.wustl.edu 37 5 37196019 37196019 + Missense_Mutation SNP A A T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 5 37196019 37196019 A T SNP C5orf42 ENST00000425232 human ensembl 74_37 -1 known missense c.3752 p.F1251Y 0.992 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 tier1 - - 38 0 0.00 70 9 11.39 CACNA1G 0 genome.wustl.edu 37 17 48673930 48673930 + Missense_Mutation SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 17 48673930 48673930 C T SNP CACNA1G ENST00000359106 human ensembl 74_37 +1 known missense c.2987 p.A996V 1.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 83 0 0.00 65 4 5.80 CACNA2D1 0 genome.wustl.edu 37 7 81591785 81591785 + Missense_Mutation SNP C C G TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 7 81591785 81591785 C G SNP CACNA2D1 ENST00000356253 human ensembl 74_37 -1 known missense c.2843 p.S948T 1.000 NULL pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D1 HGNC ENSG00000153956 tier1 - - 46 0 0.00 46 12 20.69 CARKD 0 genome.wustl.edu 37 13 111268083 111268083 + Missense_Mutation SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 13 111268083 111268083 C T SNP CARKD ENST00000309957 human ensembl 74_37 +1 known missense c.62 p.S21L 0.001 NULL pfam_YjeF_C_carb_kinase-rel,tigrfam_YjeF_C_carb_kinase-rel - no_errors CARKD HGNC ENSG00000213995 tier1 - - 29 0 0.00 10 3 23.08 CASP5 0 genome.wustl.edu 37 11 104879584 104879584 + Missense_Mutation SNP G G T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 11 104879584 104879584 G T SNP CASP5 ENST00000393141 human ensembl 74_37 -1 known missense c.170 p.S57Y 0.001 NULL pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP5 HGNC ENSG00000137757 tier1 - - 110 0 0.00 76 16 17.39 CC2D2A 0 genome.wustl.edu 37 4 15562218 15562218 + Missense_Mutation SNP T T C TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 4 15562218 15562218 T C SNP CC2D2A ENST00000413206 human ensembl 74_37 +1 known missense c.2987 p.I996T 0.993 NULL superfamily_C2_dom,smart_C2_dom - no_errors CC2D2A HGNC ENSG00000048342 tier1 - - 59 0 0.00 23 27 54.00 CCDC18 0 genome.wustl.edu 37 1 93648967 93648967 + Missense_Mutation SNP A A G TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 1 93648967 93648967 A G SNP CCDC18 ENST00000557479 human ensembl 74_37 +1 known missense c.403 p.S135G 1.000 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC18 HGNC ENSG00000122483 25 0 0.00 23 5 17.86 CCL20 0 genome.wustl.edu 37 2 228680154 228680154 + RNA DEL T T - TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 2 228680154 228680154 T - DEL CCL20 ENST00000473642 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors CCL20 HGNC ENSG00000115009 tier1 10 0 0.00 9 5 35.71 CCP110 0 genome.wustl.edu 37 16 19554028 19554028 + Missense_Mutation SNP G G T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 16 19554028 19554028 G T SNP CCP110 ENST00000381396 human ensembl 74_37 +1 known missense c.2313 p.L771F 1.000 NULL NULL - no_errors CCP110 HGNC ENSG00000103540 26 0 0.00 42 3 6.67 CCZ1 0 genome.wustl.edu 37 7 5942299 5942299 + Missense_Mutation SNP A A G TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 7 5942299 5942299 A G SNP CCZ1 ENST00000325974 human ensembl 74_37 +1 known missense c.446 p.N149S 1.000 pfam_DUF1712_fun pfam_DUF1712_fun - no_errors CCZ1 HGNC ENSG00000122674 tier1 - - 75 0 0.00 85 28 24.78 CD163 0 genome.wustl.edu 37 12 7639546 7639546 + Nonsense_Mutation SNP G G T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 12 7639546 7639546 G T SNP CD163 ENST00000359156 human ensembl 74_37 -1 known nonsense c.2087 p.S696* 0.033 NULL pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors CD163 HGNC ENSG00000177575 38 0 0.00 33 2 5.71 CDC42BPG 0 genome.wustl.edu 37 11 64609344 64609344 + Missense_Mutation SNP G G A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 11 64609344 64609344 G A SNP CDC42BPG ENST00000342711 human ensembl 74_37 -1 known missense c.193 p.R65C 1.000 NULL pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPG HGNC ENSG00000171219 tier1 - - 21 0 0.00 16 4 20.00 CDKL4 0 genome.wustl.edu 37 2 39417577 39417577 + Missense_Mutation SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 2 39417577 39417577 C T SNP CDKL4 ENST00000378803 human ensembl 74_37 -1 known missense c.521 p.G174E 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom 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 - no_errors CDKL4 HGNC ENSG00000205111 tier1 - - 24 0 0.00 41 16 28.07 CERS2 0 genome.wustl.edu 37 1 150937700 150937700 + RNA SNP T T G TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 1 150937700 150937700 T G SNP CERS2 ENST00000345896 human ensembl 74_37 -1 known rna NULL NULL 0.074 - - - no_errors CERS2 HGNC ENSG00000143418 tier1 - - 69 0 0.00 68 6 8.11 CGNL1 0 genome.wustl.edu 37 15 57730212 57730212 + Silent SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 15 57730212 57730212 C T SNP CGNL1 ENST00000281282 human ensembl 74_37 +1 known silent c.15 p.F5 0.945 NULL pfam_Myosin_tail,prints_Tropomyosin - no_errors CGNL1 HGNC ENSG00000128849 tier1 - - 55 0 0.00 33 6 15.38 CHD2 0 genome.wustl.edu 37 15 93540315 93540316 + Frame_Shift_Ins INS - - A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 15 93540315 93540316 - A INS CHD2 ENST00000557381 human ensembl 74_37 +1 putative frame_shift_ins c.3724_3725 p.Y1246fs 1.000:1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 tier1 30 0 0.00 27 4 12.90 CHRM2 0 genome.wustl.edu 37 7 136700551 136700551 + Silent SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 7 136700551 136700551 C T SNP CHRM2 ENST00000320658 human ensembl 74_37 +1 known silent c.939 p.G313 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 tier1 - - 26 0 0.00 11 11 50.00 CIRH1A 0 genome.wustl.edu 37 16 69194279 69194279 + Missense_Mutation SNP C C G TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 16 69194279 69194279 C G SNP CIRH1A ENST00000314423 human ensembl 74_37 +1 known missense c.1465 p.L489V 1.000 superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CIRH1A HGNC ENSG00000141076 tier1 - - 32 0 0.00 27 9 25.00 CKAP5 0 genome.wustl.edu 37 11 46810291 46810291 + Silent SNP T T C TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 11 46810291 46810291 T C SNP CKAP5 ENST00000415402 human ensembl 74_37 -1 known silent c.1908 p.P636 0.990 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,superfamily_Homing_endonucl,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 tier1 - - 25 0 0.00 16 11 40.74 CLDN18 0 genome.wustl.edu 37 3 137729265 137729265 + Nonsense_Mutation SNP T T A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 3 137729265 137729265 T A SNP CLDN18 ENST00000183605 human ensembl 74_37 +1 known nonsense c.198 p.Y66* 0.896 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin18,prints_Claudin - no_errors CLDN18 HGNC ENSG00000066405 tier1 - - 52 0 0.00 36 26 41.94 CNGA3 0 genome.wustl.edu 37 2 98994176 98994176 + Missense_Mutation SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 2 98994176 98994176 C T SNP CNGA3 ENST00000272602 human ensembl 74_37 +1 known missense c.128 p.S43L 0.014 NULL pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA3 HGNC ENSG00000144191 tier1 - - 25 0 0.00 18 4 18.18 CNTN5 0 genome.wustl.edu 37 11 100170076 100170076 + Missense_Mutation SNP T T G TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 11 100170076 100170076 T G SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known missense c.2568 p.N856K 0.995 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN5 HGNC ENSG00000149972 tier1 - - 25 0 0.00 17 6 26.09 COPG1 0 genome.wustl.edu 37 3 128984416 128984416 + Missense_Mutation SNP A A G TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 3 128984416 128984416 A G SNP COPG1 ENST00000314797 human ensembl 74_37 +1 known missense c.1249 p.I417V 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Coatomer_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app_Ig-like-sub,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu - no_errors COPG1 HGNC ENSG00000181789 tier1 - - 25 0 0.00 28 8 22.22 COQ5 0 genome.wustl.edu 37 12 120960101 120960101 + Missense_Mutation SNP T T C TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 12 120960101 120960101 T C SNP COQ5 ENST00000288532 human ensembl 74_37 -1 known missense c.268 p.I90V 0.993 pfam_UbiE/COQ5_MeTrFase pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_11,pfam_Methyltransf_12,tigrfam_UbiE/COQ5_MeTrFase - no_errors COQ5 HGNC ENSG00000110871 tier1 - - 28 0 0.00 23 12 34.29 CPT1C 0 genome.wustl.edu 37 19 50207991 50207991 + Missense_Mutation SNP G G A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 19 50207991 50207991 G A SNP CPT1C ENST00000323446 human ensembl 74_37 +1 known missense c.718 p.V240M 0.997 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1C HGNC ENSG00000169169 tier1 - - 39 0 0.00 15 4 21.05 CRKL 0 genome.wustl.edu 37 22 21272499 21272499 + Silent SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 22 21272499 21272499 C T SNP CRKL ENST00000354336 human ensembl 74_37 +1 known silent c.277 p.L93 1.000 smart_SH2,pfscan_SH2 pfam_SH3_2,pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH2,smart_SH3_domain,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors CRKL HGNC ENSG00000099942 tier1 - - 14 0 0.00 10 5 33.33 CSMD3 0 genome.wustl.edu 37 8 113299359 113299359 + Missense_Mutation SNP G G A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 8 113299359 113299359 G A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.9265 p.H3089Y 0.999 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 82 0 0.00 54 32 37.21 CSMD3 0 genome.wustl.edu 37 8 114290890 114290890 + Missense_Mutation SNP A A C TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 8 114290890 114290890 A C SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.445 p.S149A 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 31 0 0.00 54 5 8.47 DAAM1 0 genome.wustl.edu 37 14 59789936 59789936 + Missense_Mutation SNP G G A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 14 59789936 59789936 G A SNP DAAM1 ENST00000351081 human ensembl 74_37 +1 known missense c.767 p.R256H 1.000 pfam_FH3_dom,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin - no_errors DAAM1 HGNC ENSG00000100592 22 0 0.00 28 4 12.50 DBNL 0 genome.wustl.edu 37 7 44098544 44098544 + Missense_Mutation SNP G G C TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 7 44098544 44098544 G C SNP DBNL ENST00000468694 human ensembl 74_37 +1 known missense c.824 p.R275T 1.000 NULL pfam_Actin-bd_cofilin/tropomyosin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Actin-bd_cofilin/tropomyosin,smart_SH3_domain,pfscan_SH3_domain - no_errors DBNL HGNC ENSG00000136279 45 0 0.00 41 3 6.82 DHRSX 0 genome.wustl.edu 37 X 2184836 2184836 + Missense_Mutation SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 X 2184836 2184836 C T SNP DHRSX ENST00000334651 human ensembl 74_37 -1 known missense c.541 p.V181I 1.000 pfam_DH_sc/Rdtase_SDR,pfam_Epimerase_deHydtase pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH - no_errors DHRSX HGNC ENSG00000169084 tier1 - - 145 0 0.00 131 25 15.92 DNAH5 0 genome.wustl.edu 37 5 13871845 13871845 + Missense_Mutation SNP T T G TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 5 13871845 13871845 T G SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.3426 p.K1142N 0.605 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 tier1 - - 65 0 0.00 60 17 22.08 DNM1P47 0 genome.wustl.edu 37 15 102294753 102294753 + RNA SNP T T C TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 15 102294753 102294753 T C SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 14 0 0.00 27 3 10.00 DPH2 0 genome.wustl.edu 37 1 44435941 44435941 + Missense_Mutation SNP G G A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 1 44435941 44435941 G A SNP DPH2 ENST00000255108 human ensembl 74_37 +1 known missense c.94 p.V32M 0.095 tigrfam_DHP2_eu pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu - no_errors DPH2 HGNC ENSG00000132768 24 0 0.00 19 5 20.83 DSCAML1 0 genome.wustl.edu 37 11 117667753 117667753 + Missense_Mutation SNP G G T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 11 117667753 117667753 G T SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.222 p.H74Q 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 tier1 - - 30 0 0.00 14 3 17.65 DYNC1I2 0 genome.wustl.edu 37 2 172549338 172549339 + Frame_Shift_Ins INS - - A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 2 172549338 172549339 - A INS DYNC1I2 ENST00000397119 human ensembl 74_37 +1 known frame_shift_ins c.160_161 p.R57fs 1.000:1.000 NULL pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENSG00000077380 tier1 26 0 0.00 35 3 7.89 EIF3K 0 genome.wustl.edu 37 19 39123261 39123261 + Missense_Mutation SNP A A T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 19 39123261 39123261 A T SNP EIF3K ENST00000248342 human ensembl 74_37 +1 known missense c.442 p.I148F 1.000 pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25,superfamily_ARM-type_fold - no_errors EIF3K HGNC ENSG00000178982 tier1 - - 59 0 0.00 37 20 35.09 ENSG00000203849 0 genome.wustl.edu 37 1 142620909 142620909 + RNA SNP C C A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 1 142620909 142620909 C A SNP ENSG00000203849 ENST00000369381 human ensembl 74_37 -1 known rna NULL NULL 0.074 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 39 0 0.00 35 3 7.89 ENSG00000205444 0 genome.wustl.edu 37 6 4610914 4610914 + RNA SNP T T G TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 6 4610914 4610914 T G SNP ENSG00000205444 ENST00000380106 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP4-529N6.1 Clone_based_vega_gene ENSG00000205444 tier1 - - 17 0 0.00 16 10 38.46 ENSG00000240801 0 genome.wustl.edu 37 11 2150629 2150629 + RNA SNP G G T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 11 2150629 2150629 G T SNP ENSG00000240801 ENST00000430034 human ensembl 74_37 -1 known rna NULL NULL 0.211 - - - no_errors AC132217.4 Clone_based_vega_gene ENSG00000240801 tier1 - - 10 0 0.00 9 7 43.75 ENSG00000259605 0 genome.wustl.edu 37 19 46273048 46273048 + RNA SNP C C G TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 19 46273048 46273048 C G SNP ENSG00000259605 ENST00000592217 human ensembl 74_37 +1 known rna NULL NULL 0.991 - - - no_errors AC074212.5 Clone_based_vega_gene ENSG00000259605 tier1 - - 108 0 0.00 34 22 39.29 ENSG00000262477 0 genome.wustl.edu 37 18 29993186 29993186 + RNA SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 18 29993186 29993186 C T SNP ENSG00000262477 ENST00000573479 human ensembl 74_37 +1 novel rna NULL NULL 0.078 - - - no_errors AC021224.1 Clone_based_ensembl_gene ENSG00000262477 tier1 - - 37 0 0.00 39 13 25.00 EPRS 0 genome.wustl.edu 37 1 220208321 220208321 + Missense_Mutation SNP G G T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 1 220208321 220208321 G T SNP EPRS ENST00000366923 human ensembl 74_37 -1 known missense c.166 p.R56S 1.000 NULL pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_arc/euk - no_errors EPRS HGNC ENSG00000136628 13 0 0.00 36 2 5.26 ERV3-1 0 genome.wustl.edu 37 7 64452815 64452815 + Missense_Mutation SNP C C A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 7 64452815 64452815 C A SNP ERV3-1 ENST00000394323 human ensembl 74_37 -1 known missense c.590 p.C197F 0.475 NULL NULL - no_errors ERV3-1 HGNC ENSG00000213462 tier1 - - 33 0 0.00 25 5 16.13 ERV3-1 0 genome.wustl.edu 37 7 64452816 64452816 + Missense_Mutation SNP A A G TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 7 64452816 64452816 A G SNP ERV3-1 ENST00000394323 human ensembl 74_37 -1 known missense c.589 p.C197R 0.453 NULL NULL - no_errors ERV3-1 HGNC ENSG00000213462 tier1 - - 33 0 0.00 26 6 18.75 ETV5 0 genome.wustl.edu 37 3 185766490 185766490 + Missense_Mutation SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 3 185766490 185766490 C T SNP ETV5 ENST00000537818 human ensembl 74_37 -1 known missense c.1597 p.A533T 0.512 NULL pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV5 HGNC ENSG00000244405 tier1 - - 58 0 0.00 43 27 38.57 EXOC3L1 0 genome.wustl.edu 37 16 67222636 67222636 + Missense_Mutation SNP G G A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 16 67222636 67222636 G A SNP EXOC3L1 ENST00000314586 human ensembl 74_37 -1 known missense c.415 p.R139W 0.982 NULL pfam_Sec6 - no_errors EXOC3L1 HGNC ENSG00000179044 tier1 - - 46 0 0.00 28 17 37.78 FAT2 0 genome.wustl.edu 37 5 150946655 150946655 + Missense_Mutation SNP T T C TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 5 150946655 150946655 T C SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.1838 p.N613S 0.954 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 tier1 - - 39 0 0.00 19 23 54.76 FGD5P1 0 genome.wustl.edu 37 3 13976015 13976015 + RNA DEL T T - TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 3 13976015 13976015 T - DEL FGD5P1 ENST00000502451 human ensembl 74_37 +1 known rna NULL NULL 0.827 - - - no_errors FGD5P1 HGNC ENSG00000250439 tier1 15 0 0.00 13 2 13.33 FOLR3 0 genome.wustl.edu 37 11 71850422 71850422 + Missense_Mutation SNP T T G TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 11 71850422 71850422 T G SNP FOLR3 ENST00000456237 human ensembl 74_37 +1 known missense c.515 p.L172R 0.881 pfam_Folate_rcpt-like pfam_Folate_rcpt-like - no_errors FOLR3 HGNC ENSG00000110203 tier1 - - 64 0 0.00 112 22 16.30 FRMPD3 0 genome.wustl.edu 37 X 106846540 106846540 + Silent SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 X 106846540 106846540 C T SNP FRMPD3 ENST00000276185 human ensembl 74_37 +1 known silent c.5370 p.G1790 0.984 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 tier1 - - 29 0 0.00 16 10 38.46 GAGE2D 0 genome.wustl.edu 37 X 49208295 49208296 + In_Frame_Ins INS - - TAT TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 X 49208295 49208296 0 TAT INS GAGE2D ENST00000404720 human ensembl 74_37 +1 known in_frame_ins c.24_25 p.9in_frame_insY 0.002:0.002 pfam_GAGE pfam_GAGE - no_errors GAGE2D HGNC ENSG00000240257 22 0 0.00 37 8 17.78 GCOM1 0 genome.wustl.edu 37 15 57921909 57921909 + Missense_Mutation SNP G G C TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 15 57921909 57921909 G C SNP GCOM1 ENST00000380569 human ensembl 74_37 +1 known missense c.535 p.V179L 0.981 NULL NULL - no_errors GCOM1 HGNC ENSG00000137878 36 0 0.00 42 3 6.67 GEN1 0 genome.wustl.edu 37 2 17962626 17962626 + Missense_Mutation SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 2 17962626 17962626 C T SNP GEN1 ENST00000317402 human ensembl 74_37 +1 known missense c.2147 p.T716I 0.000 NULL pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors GEN1 HGNC ENSG00000178295 15 0 0.00 31 2 6.06 GFRA3 0 genome.wustl.edu 37 5 137600203 137600203 + Silent SNP G G A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 5 137600203 137600203 G A SNP GFRA3 ENST00000274721 human ensembl 74_37 -1 known silent c.126 p.N42 0.177 prints_GDNF_rcpt_A3 pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3 - no_errors GFRA3 HGNC ENSG00000146013 tier1 - - 72 0 0.00 66 10 13.16 GMEB1 0 genome.wustl.edu 37 1 29041385 29041386 + RNA INS - - A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 1 29041385 29041386 - A INS GMEB1 ENST00000480454 human ensembl 74_37 +1 known rna NULL NULL 0.437:0.252 - - - no_errors GMEB1 HGNC ENSG00000162419 tier1 11 0 0.00 11 6 35.29 GPATCH11 0 genome.wustl.edu 37 2 37316991 37316991 + Missense_Mutation SNP C C A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 2 37316991 37316991 C A SNP GPATCH11 ENST00000409774 human ensembl 74_37 +1 known missense c.334 p.Q112K 1.000 pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH11 HGNC ENSG00000152133 tier1 - - 39 0 0.00 51 4 7.27 GRHL2 0 genome.wustl.edu 37 8 102570829 102570829 + Missense_Mutation SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 8 102570829 102570829 C T SNP GRHL2 ENST00000251808 human ensembl 74_37 +1 known missense c.467 p.T156M 0.012 NULL pfam_CP2 - no_errors GRHL2 HGNC ENSG00000083307 tier1 - - 37 0 0.00 35 7 16.67 GRIA4 0 genome.wustl.edu 37 11 105850988 105850989 + RNA INS - - AA TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 11 105850988 105850989 - AA INS GRIA4 ENST00000533094 human ensembl 74_37 +1 putative rna NULL NULL 0.176:0.170 - - - no_errors GRIA4 HGNC ENSG00000152578 tier1 58 0 0.00 40 3 6.98 GTF2I 0 genome.wustl.edu 37 7 74167460 74167460 + Missense_Mutation SNP A A T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 7 74167460 74167460 A T SNP GTF2I ENST00000324896 human ensembl 74_37 +1 known missense c.2592 p.K864N 0.975 superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2I HGNC ENSG00000077809 67 0 0.00 109 12 9.92 GUSB 0 genome.wustl.edu 37 7 65444784 65444784 + Missense_Mutation SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 7 65444784 65444784 C T SNP GUSB ENST00000304895 human ensembl 74_37 -1 known missense c.511 p.A171T 1.000 pfam_Glyco_hydro_2_N,superfamily_Galactose-bd-like pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2 - no_errors GUSB HGNC ENSG00000169919 tier1 - - 48 0 0.00 40 17 29.82 HECW1-IT1 0 genome.wustl.edu 37 7 43157830 43157831 + RNA INS - - A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 7 43157830 43157831 - A INS HECW1-IT1 ENST00000322220 human ensembl 74_37 +1 known rna NULL NULL 0.031:0.000 - - - no_errors HECW1-IT1 HGNC ENSG00000181211 tier1 43 0 0.00 46 5 9.80 HGSNAT 0 genome.wustl.edu 37 8 43046701 43046701 + Missense_Mutation SNP G G T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 8 43046701 43046701 G T SNP HGSNAT ENST00000458501 human ensembl 74_37 +1 known missense c.1297 p.G433C 0.545 NULL pfam_DUF1624 - no_errors HGSNAT HGNC ENSG00000165102 tier1 - - 60 0 0.00 59 6 9.23 HHLA1 0 genome.wustl.edu 37 8 133112334 133112334 + Missense_Mutation SNP G G A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 8 133112334 133112334 G A SNP HHLA1 ENST00000414222 human ensembl 74_37 -1 known missense c.187 p.L63F 0.174 NULL NULL - no_errors HHLA1 HGNC ENSG00000132297 tier1 - - 28 0 0.00 31 6 16.22 HIST1H2AL 0 genome.wustl.edu 37 6 27833153 27833153 + Silent SNP G G A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 6 27833153 27833153 G A SNP HIST1H2AL ENST00000357320 human ensembl 74_37 +1 known silent c.21 p.Q7 0.996 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AL HGNC ENSG00000198374 tier1 - - 53 0 0.00 60 5 7.69 HIST1H3D 0 genome.wustl.edu 37 6 26197139 26197139 + Missense_Mutation SNP G G T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 6 26197139 26197139 G T SNP HIST1H3D ENST00000356476 human ensembl 74_37 -1 known missense c.340 p.H114N 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3D HGNC ENSG00000197409 tier1 - - 91 0 0.00 53 48 47.52 HMCN1 0 genome.wustl.edu 37 1 185985349 185985349 + Silent SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 1 185985349 185985349 C T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known silent c.5169 p.I1723 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 38 0 0.00 37 2 5.13 HSPG2 0 genome.wustl.edu 37 1 22181417 22181417 + Missense_Mutation SNP G G T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 1 22181417 22181417 G T SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.6057 p.D2019E 0.602 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 tier1 - - 68 0 0.00 60 4 6.25 IGFBPL1 0 genome.wustl.edu 37 9 38414111 38414111 + Missense_Mutation SNP G G T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 9 38414111 38414111 G T SNP IGFBPL1 ENST00000377694 human ensembl 74_37 -1 known missense c.550 p.P184T 0.899 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pirsf_IGFBP_rP_mac25,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Kazal_dom,pfam_IGFBP-like,smart_IGFBP-like,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pirsf_IGFBP_rP_mac25,pfscan_Ig-like_dom - no_errors IGFBPL1 HGNC ENSG00000137142 tier1 - - 57 0 0.00 38 4 9.52 ITGB1BP1 0 genome.wustl.edu 37 2 9552384 9552384 + Frame_Shift_Del DEL T T - TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 2 9552384 9552384 T - DEL ITGB1BP1 ENST00000483795 human ensembl 74_37 -1 known frame_shift_del c.302 p.N101fs 0.000 NULL pfam_Integrin-bd_ICAP-1 - no_errors ITGB1BP1 HGNC ENSG00000119185 tier1 13 0 0.00 12 3 20.00 JAK1 0 genome.wustl.edu 37 1 65349067 65349067 + Missense_Mutation SNP T T A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 1 65349067 65349067 T A SNP JAK1 ENST00000342505 human ensembl 74_37 -1 known missense c.98 p.E33V 0.634 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,smart_Band_41_domain pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors JAK1 HGNC ENSG00000162434 tier1 - - 30 0 0.00 46 10 17.86 KANSL1L 0 genome.wustl.edu 37 2 210993825 210993825 + Missense_Mutation SNP G G T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 2 210993825 210993825 G T SNP KANSL1L ENST00000281772 human ensembl 74_37 -1 known missense c.1160 p.A387D 1.000 NULL NULL - no_errors KANSL1L HGNC ENSG00000144445 tier1 - - 83 0 0.00 56 4 6.67 KIDINS220 0 genome.wustl.edu 37 2 8919884 8919884 + Nonsense_Mutation SNP G G A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 2 8919884 8919884 G A SNP KIDINS220 ENST00000256707 human ensembl 74_37 -1 known nonsense c.2290 p.Q764* 1.000 pfam_KAP_NTPase pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 tier1 - - 43 0 0.00 58 22 27.50 KIF1A 0 genome.wustl.edu 37 2 241722519 241722519 + Missense_Mutation SNP G G A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 2 241722519 241722519 G A SNP KIF1A ENST00000498729 human ensembl 74_37 -1 known missense c.806 p.A269V 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 tier1 - - 97 0 0.00 67 29 30.21 KIF20B 0 genome.wustl.edu 37 10 91478561 91478561 + Missense_Mutation SNP A A G TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 10 91478561 91478561 A G SNP KIF20B ENST00000416354 human ensembl 74_37 +1 known missense c.1366 p.I456V 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_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 KIF20B HGNC ENSG00000138182 tier1 - - 38 0 0.00 15 19 55.88 LARP1 0 genome.wustl.edu 37 5 154181697 154181697 + Missense_Mutation SNP T T C TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 5 154181697 154181697 T C SNP LARP1 ENST00000336314 human ensembl 74_37 +1 known missense c.1616 p.M539T 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC ENSG00000155506 44 0 0.00 44 6 12.00 LEKR1 0 genome.wustl.edu 37 3 156763371 156763371 + Frame_Shift_Del DEL C C - TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 3 156763371 156763371 C - DEL LEKR1 ENST00000356539 human ensembl 74_37 +1 known frame_shift_del c.1911 p.V639fs 0.000 NULL superfamily_Ribosomal_L29 - no_errors LEKR1 HGNC ENSG00000197980 tier1 35 0 0.00 22 12 35.29 LOC100129027 0 genome.wustl.edu 37 21 47250070 47250070 + RNA SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 21 47250070 47250070 C T SNP LOC100129027 ENST00000380008 human ensembl 74_37 -1 known rna NULL NULL 0.012 - - - no_errors AL592528.1 Clone_based_vega_gene ENSG00000205424 tier1 - - 28 0 0.00 19 6 24.00 LOC101927708 0 genome.wustl.edu 37 11 3602161 3602161 + RNA SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 11 3602161 3602161 C T SNP LOC101927708 ENST00000527970 human ensembl 74_37 -1 known rna NULL NULL 0.708 - - - no_errors RP13-726E6.2 Clone_based_vega_gene ENSG00000255367 tier1 rs188013291 - 41 0 0.00 30 9 23.08 LY6G6F 0 genome.wustl.edu 37 6 31675846 31675846 + Missense_Mutation SNP G G T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 6 31675846 31675846 G T SNP LY6G6F ENST00000556581 human ensembl 74_37 +1 known missense c.581 p.S194I 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors LY6G6F HGNC ENSG00000204424 45 0 0.00 38 4 9.52 LYST 0 genome.wustl.edu 37 1 235972743 235972743 + Missense_Mutation SNP C C G TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 1 235972743 235972743 C G SNP LYST ENST00000389793 human ensembl 74_37 -1 known missense c.1375 p.D459H 0.878 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 26 0 0.00 14 3 17.65 MAGEC3 0 genome.wustl.edu 37 X 140983065 140983065 + Missense_Mutation SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 X 140983065 140983065 C T SNP MAGEC3 ENST00000298296 human ensembl 74_37 +1 known missense c.920 p.A307V 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 tier1 - - 25 0 0.00 5 13 72.22 MAGEC3 0 genome.wustl.edu 37 X 140985273 140985273 + Splice_Site SNP G G C TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 X 140985273 140985273 G C SNP MAGEC3 ENST00000298296 human ensembl 74_37 +1 known splice_site c.1728+1 e7+1 0.027 - - - no_errors MAGEC3 HGNC ENSG00000165509 tier1 - - 27 0 0.00 10 18 64.29 MAP4K5 0 genome.wustl.edu 37 14 50930823 50930823 + Missense_Mutation SNP T T C TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 14 50930823 50930823 T C SNP MAP4K5 ENST00000013125 human ensembl 74_37 -1 known missense c.766 p.I256V 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Citron,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,smart_Citron,pfscan_Prot_kinase_dom - no_errors MAP4K5 HGNC ENSG00000012983 tier1 - - 33 0 0.00 34 16 32.00 MDC1 0 genome.wustl.edu 37 6 30680031 30680031 + Missense_Mutation SNP A A T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 6 30680031 30680031 A T SNP MDC1 ENST00000376406 human ensembl 74_37 -1 known missense c.1688 p.L563H 0.190 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 tier1 - - 23 0 0.00 18 26 59.09 MIER1 0 genome.wustl.edu 37 1 67390754 67390754 + Missense_Mutation SNP G G A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 1 67390754 67390754 G A SNP MIER1 ENST00000401041 human ensembl 74_37 +1 known missense c.43 p.G15S 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER1 HGNC ENSG00000198160 12 0 0.00 4 2 33.33 MKNK2 0 genome.wustl.edu 37 19 2046658 2046658 + Silent SNP T T A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 19 2046658 2046658 T A SNP MKNK2 ENST00000250896 human ensembl 74_37 -1 known silent c.84 p.L28 0.997 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MKNK2 HGNC ENSG00000099875 tier1 - - 64 0 0.00 57 7 10.94 MRGPRF 0 genome.wustl.edu 37 11 68773599 68773599 + Missense_Mutation SNP A A T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 11 68773599 68773599 A T SNP MRGPRF ENST00000309099 human ensembl 74_37 -1 known missense c.179 p.V60E 0.994 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRF HGNC ENSG00000172935 tier1 - - 53 0 0.00 150 11 6.83 MROH2B 0 genome.wustl.edu 37 5 41000790 41000790 + Missense_Mutation SNP T T G TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 5 41000790 41000790 T G SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known missense c.4340 p.K1447T 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 tier1 - - 21 0 0.00 37 8 17.78 MSRB1 0 genome.wustl.edu 37 16 1993105 1993105 + Missense_Mutation SNP G G T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 16 1993105 1993105 G T SNP MSRB1 ENST00000399753 human ensembl 74_37 -1 putative missense c.53 p.P18H 0.999 pfam_Met_Sox_Rdtase_MsrB,superfamily_Mss4-like pfam_Met_Sox_Rdtase_MsrB,superfamily_Mss4-like - no_errors MSRB1 HGNC ENSG00000198736 27 0 0.00 22 3 12.00 MT-CO2 0 genome.wustl.edu 37 MT 8090 8090 + Missense_Mutation SNP G G A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 MT 8090 8090 G A SNP MT-CO2 ENST00000361739 human ensembl 74_37 +1 known missense c.505 p.G169S NULL pfam_Cyt_c_oxidase_su2_C,superfamily_Cupredoxin,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 - no_errors MT-CO2 HGNC ENSG00000198712 tier1 - - 22 0 0.00 12 11 47.83 MUC4 0 genome.wustl.edu 37 3 195513768 195513768 + Silent SNP T T C TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 3 195513768 195513768 T C SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known silent c.4683 p.V1561 0.039 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 - - 346 0 0.00 434 44 9.21 MXRA5 0 genome.wustl.edu 37 X 3228543 3228543 + Silent SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 X 3228543 3228543 C T SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known silent c.7701 p.A2567 0.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 22 0 0.00 23 4 14.81 NCEH1 0 genome.wustl.edu 37 3 172351286 172351286 + Silent SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 3 172351286 172351286 C T SNP NCEH1 ENST00000538775 human ensembl 74_37 -1 known silent c.1326 p.K442 1.000 pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase - no_errors NCEH1 HGNC ENSG00000144959 tier1 - - 147 0 0.00 142 47 24.87 NECAB1 0 genome.wustl.edu 37 8 91962044 91962044 + Missense_Mutation SNP A A G TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 8 91962044 91962044 A G SNP NECAB1 ENST00000417640 human ensembl 74_37 +1 known missense c.870 p.I290M 0.976 pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NECAB1 HGNC ENSG00000123119 tier1 - - 74 0 0.00 35 26 41.94 NID1 0 genome.wustl.edu 37 1 236187381 236187381 + Missense_Mutation SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 1 236187381 236187381 C T SNP NID1 ENST00000264187 human ensembl 74_37 -1 known missense c.2117 p.R706Q 0.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 tier1 - - 27 0 0.00 22 20 47.62 NR1I2 0 genome.wustl.edu 37 3 119533916 119533916 + Missense_Mutation SNP G G T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 3 119533916 119533916 G T SNP NR1I2 ENST00000337940 human ensembl 74_37 +1 known missense c.1002 p.E334D 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core 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,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt - no_errors NR1I2 HGNC ENSG00000144852 tier1 - - 70 0 0.00 46 4 8.00 NRP2 0 genome.wustl.edu 37 2 206628610 206628610 + Nonsense_Mutation SNP G G T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 2 206628610 206628610 G T SNP NRP2 ENST00000360409 human ensembl 74_37 +1 known nonsense c.2257 p.E753* 0.975 pirsf_Neuropilin,pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP2 HGNC ENSG00000118257 tier1 - - 45 0 0.00 33 8 19.51 NSD1 0 genome.wustl.edu 37 5 176683973 176683973 + Missense_Mutation SNP G G T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 5 176683973 176683973 G T SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known missense c.4787 p.C1596F 1.000 smart_Znf_PHD pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 tier1 - - 55 0 0.00 32 35 52.24 NYAP2 0 genome.wustl.edu 37 2 226447051 226447051 + Silent SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 2 226447051 226447051 C T SNP NYAP2 ENST00000272907 human ensembl 74_37 +1 known silent c.918 p.F306 1.000 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 tier1 - - 12 0 0.00 19 7 26.92 OCIAD1 0 genome.wustl.edu 37 4 48859371 48859372 + Frame_Shift_Ins INS - - A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 4 48859371 48859372 - A INS OCIAD1 ENST00000264312 human ensembl 74_37 +1 known frame_shift_ins c.689_690 p.E233fs 1.000:0.300 NULL pfam_OCIA - no_errors OCIAD1 HGNC ENSG00000109180 tier1 54 0 0.00 24 20 45.45 OR6K6 0 genome.wustl.edu 37 1 158725436 158725437 + Frame_Shift_Ins INS - - T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 1 158725436 158725437 - T INS OR6K6 ENST00000368144 human ensembl 74_37 +1 known frame_shift_ins c.831_832 p.G279fs 0.009:0.920 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K6 HGNC ENSG00000180433 tier1 85 0 0.00 88 20 18.52 OR8H1 0 genome.wustl.edu 37 11 56058416 56058416 + Silent SNP G G T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 11 56058416 56058416 G T SNP OR8H1 ENST00000313022 human ensembl 74_37 -1 known silent c.123 p.G41 0.086 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 OR8H1 HGNC ENSG00000181693 tier1 - - 60 0 0.00 44 11 20.00 OVGP1 0 genome.wustl.edu 37 1 111968031 111968031 + Silent SNP G G A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 1 111968031 111968031 G A SNP OVGP1 ENST00000369732 human ensembl 74_37 -1 known silent c.291 p.I97 0.978 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors OVGP1 HGNC ENSG00000085465 tier1 - - 101 0 0.00 71 32 31.07 PCDH18 0 genome.wustl.edu 37 4 138452077 138452077 + Missense_Mutation SNP G G T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 4 138452077 138452077 G T SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known missense c.1166 p.S389Y 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 36 0 0.00 34 2 5.56 PCDHB16 0 genome.wustl.edu 37 5 140562523 140562523 + Missense_Mutation SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 5 140562523 140562523 C T SNP PCDHB16 ENST00000361016 human ensembl 74_37 +1 known missense c.389 p.S130F 0.984 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB16 HGNC ENSG00000196963 22 0 0.00 21 3 12.50 PDCD6IP 0 genome.wustl.edu 37 3 33870378 33870378 + Missense_Mutation SNP A A G TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 3 33870378 33870378 A G SNP PDCD6IP ENST00000457054 human ensembl 74_37 +1 known missense c.766 p.I256V 1.000 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfscan_BRO1_dom - no_errors PDCD6IP HGNC ENSG00000170248 tier1 - - 46 0 0.00 45 14 23.73 PDS5A 0 genome.wustl.edu 37 4 39915248 39915248 + Nonsense_Mutation SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 4 39915248 39915248 C T SNP PDS5A ENST00000303538 human ensembl 74_37 -1 known nonsense c.975 p.W325* 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5A HGNC ENSG00000121892 tier1 - - 29 0 0.00 17 6 26.09 PIGC 0 genome.wustl.edu 37 1 172411232 172411232 + Silent SNP T T C TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 1 172411232 172411232 T C SNP PIGC ENST00000258324 human ensembl 74_37 -1 known silent c.531 p.L177 0.997 pfam_Plno_GlcNAc_GPI2,pirsf_Plno_GlcNAc_GPI2 pfam_Plno_GlcNAc_GPI2,pirsf_Plno_GlcNAc_GPI2 - no_errors PIGC HGNC ENSG00000135845 tier1 - - 31 0 0.00 23 12 34.29 PPP1R17 0 genome.wustl.edu 37 7 31732094 31732094 + Silent SNP A A T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 7 31732094 31732094 A T SNP PPP1R17 ENST00000342032 human ensembl 74_37 +1 known silent c.39 p.S13 0.997 NULL NULL - no_errors PPP1R17 HGNC ENSG00000106341 tier1 - - 81 0 0.00 70 30 30.00 PRDX6 0 genome.wustl.edu 37 1 173454551 173454551 + Missense_Mutation SNP A A G TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 1 173454551 173454551 A G SNP PRDX6 ENST00000340385 human ensembl 74_37 +1 known missense c.304 p.I102V 1.000 pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Peroxiredoxin_C,pfam_Redoxin,superfamily_Thioredoxin-like_fold - no_errors PRDX6 HGNC ENSG00000117592 tier1 - - 75 0 0.00 47 32 40.51 PSMA1 0 genome.wustl.edu 37 11 14526711 14526711 + RNA SNP T T C TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 11 14526711 14526711 T C SNP PSMA1 ENST00000524606 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors PSMA1 HGNC ENSG00000129084 tier1 - - 29 0 0.00 18 22 55.00 PTK2 0 genome.wustl.edu 37 8 141754888 141754888 + RNA DEL G G - TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 8 141754888 141754888 G - DEL PTK2 ENST00000518509 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PTK2 HGNC ENSG00000169398 tier1 21 0 0.00 18 2 10.00 PTPN14 0 genome.wustl.edu 37 1 214542917 214542918 + Frame_Shift_Ins INS - - A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 1 214542917 214542918 - A INS PTPN14 ENST00000366956 human ensembl 74_37 -1 known frame_shift_ins c.3154_3153 p.A1051fs 1.000:1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN14 HGNC ENSG00000152104 tier1 73 0 0.00 65 16 19.75 PXMP2 0 genome.wustl.edu 37 12 133277913 133277913 + Missense_Mutation SNP G G T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 12 133277913 133277913 G T SNP PXMP2 ENST00000317479 human ensembl 74_37 +1 known missense c.477 p.W159C 1.000 pfam_Mpv17_PMP22 pfam_Mpv17_PMP22 - no_errors PXMP2 HGNC ENSG00000176894 tier1 - - 51 0 0.00 51 14 21.54 RAB13 0 genome.wustl.edu 37 1 153955990 153955990 + RNA SNP T T C TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 1 153955990 153955990 T C SNP RAB13 ENST00000462680 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RAB13 HGNC ENSG00000143545 tier1 - - 85 0 0.00 66 16 19.51 RALGAPA1 0 genome.wustl.edu 37 14 36211602 36211603 + Frame_Shift_Ins INS - - A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 14 36211602 36211603 - A INS RALGAPA1 ENST00000258840 human ensembl 74_37 -1 known frame_shift_ins c.1421_1420 p.S474fs 0.091:0.077 NULL pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA1 HGNC ENSG00000174373 tier1 21 0 0.00 21 5 19.23 RANBP2 0 genome.wustl.edu 37 2 109347782 109347782 + Nonsense_Mutation SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 2 109347782 109347782 C T SNP RANBP2 ENST00000425282 human ensembl 74_37 +1 known nonsense c.145 p.Q49* 1.000 NULL NULL - no_errors RANBP2 HGNC ENSG00000153201 tier1 - - 191 0 0.00 217 38 14.90 RBM33 0 genome.wustl.edu 37 7 155532574 155532576 + In_Frame_Del DEL CAC CAC - TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 CAC CAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 7 155532574 155532576 CAC 0 DEL RBM33 ENST00000401878 human ensembl 74_37 +1 known in_frame_del c.1903_1905 p.H638in_frame_del 0.994:0.987:0.985 NULL smart_RRM_dom - no_errors RBM33 HGNC ENSG00000184863 11 0 0.00 4 2 33.33 RC3H2 0 genome.wustl.edu 37 9 125639797 125639797 + Silent SNP T T C TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 9 125639797 125639797 T C SNP RC3H2 ENST00000357244 human ensembl 74_37 -1 known silent c.1278 p.P426 0.962 pfam_Znf_CCCH,smart_Znf_CCCH pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H2 HGNC ENSG00000056586 tier1 - - 28 0 0.00 28 25 46.30 RNF5 0 genome.wustl.edu 37 6 32147865 32147865 + Missense_Mutation SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 6 32147865 32147865 C T SNP RNF5 ENST00000427134 human ensembl 74_37 +1 known missense c.407 p.T136I 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF5 HGNC ENSG00000204308 13 0 0.00 33 2 5.71 ROCK1 0 genome.wustl.edu 37 18 18559913 18559913 + Missense_Mutation SNP T T G TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 18 18559913 18559913 T G SNP ROCK1 ENST00000399799 human ensembl 74_37 -1 known missense c.2612 p.N871T 1.000 pirsf_Rho-assoc_coiled-coil_kin pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd_dom,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK1 HGNC ENSG00000067900 tier1 - - 51 0 0.00 49 18 26.87 RTL1 0 genome.wustl.edu 37 14 101348319 101348319 + Missense_Mutation SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 14 101348319 101348319 C T SNP RTL1 ENST00000534062 human ensembl 74_37 -1 known missense c.2807 p.R936H 1.000 NULL pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom - no_errors RTL1 HGNC ENSG00000254656 39 0 0.00 26 3 10.34 RYR1 0 genome.wustl.edu 37 19 39075726 39075726 + Missense_Mutation SNP G G T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 19 39075726 39075726 G T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.14790 p.L4930F 1.000 pfam_Ion_trans_dom pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,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_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 46 0 0.00 50 3 5.66 SCLT1 0 genome.wustl.edu 37 4 129809878 129809878 + Missense_Mutation SNP G G T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 4 129809878 129809878 G T SNP SCLT1 ENST00000281142 human ensembl 74_37 -1 known missense c.1960 p.R654S 0.997 NULL NULL - no_errors SCLT1 HGNC ENSG00000151466 38 0 0.00 36 2 5.26 SDCCAG3 0 genome.wustl.edu 37 9 139303480 139303480 + Missense_Mutation SNP G G A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 9 139303480 139303480 G A SNP SDCCAG3 ENST00000357365 human ensembl 74_37 -1 known missense c.260 p.P87L 0.202 NULL NULL - no_errors SDCCAG3 HGNC ENSG00000165689 tier1 - - 37 0 0.00 17 5 22.73 SEL1L2 0 genome.wustl.edu 37 20 13829998 13829998 + RNA SNP T T C TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 20 13829998 13829998 T C SNP SEL1L2 ENST00000482196 human ensembl 74_37 -1 known rna NULL NULL 0.009 - - - no_errors SEL1L2 HGNC ENSG00000101251 tier1 - - 30 0 0.00 37 6 13.95 SENP7 0 genome.wustl.edu 37 3 101085489 101085489 + Missense_Mutation SNP A A G TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 3 101085489 101085489 A G SNP SENP7 ENST00000394095 human ensembl 74_37 -1 known missense c.1103 p.L368P 0.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP7 HGNC ENSG00000138468 tier1 - - 67 0 0.00 38 18 32.14 SIAH1 0 genome.wustl.edu 37 16 48396037 48396037 + Silent SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 16 48396037 48396037 C T SNP SIAH1 ENST00000356721 human ensembl 74_37 -1 known silent c.396 p.A132 1.000 pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like,pfscan_Znf_SIAH pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like,pfscan_Znf_RING,pfscan_Znf_SIAH - no_errors SIAH1 HGNC ENSG00000196470 tier1 - - 59 0 0.00 63 20 24.10 SIGLEC5 0 genome.wustl.edu 37 19 52133162 52133162 + Silent SNP G G A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 19 52133162 52133162 G A SNP SIGLEC5 ENST00000570106 human ensembl 74_37 -1 known silent c.345 p.S115 0.046 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC5 HGNC ENSG00000105501 tier1 - - 19 0 0.00 7 6 46.15 SKIV2L2 0 genome.wustl.edu 37 5 54637600 54637600 + Splice_Site SNP G G T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 5 54637600 54637600 G T SNP SKIV2L2 ENST00000230640 human ensembl 74_37 +1 known splice_site c.781+1 e7+1 1.000 - - - no_errors SKIV2L2 HGNC ENSG00000039123 tier1 - - 63 0 0.00 64 4 5.88 SLC12A3 0 genome.wustl.edu 37 16 56924229 56924229 + Missense_Mutation SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 16 56924229 56924229 C T SNP SLC12A3 ENST00000438926 human ensembl 74_37 +1 known missense c.2329 p.R777W 0.980 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A3 HGNC ENSG00000070915 tier1 - - 126 0 0.00 66 42 38.89 SLC18A2 0 genome.wustl.edu 37 10 119027194 119027195 + Frame_Shift_Ins INS - - A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 10 119027194 119027195 - A INS SLC18A2 ENST00000298472 human ensembl 74_37 +1 known frame_shift_ins c.1133_1134 p.N380fs 1.000:0.993 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A2 HGNC ENSG00000165646 tier1 56 0 0.00 40 16 28.57 SLC2A4RG 0 genome.wustl.edu 37 20 62374233 62374233 + Nonsense_Mutation SNP A A T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 20 62374233 62374233 A T SNP SLC2A4RG ENST00000266077 human ensembl 74_37 +1 known nonsense c.1054 p.K352* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SLC2A4RG HGNC ENSG00000125520 tier1 - - 27 0 0.00 35 8 18.60 SLC35E4 0 genome.wustl.edu 37 22 31042745 31042745 + Silent SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 22 31042745 31042745 C T SNP SLC35E4 ENST00000343605 human ensembl 74_37 +1 known silent c.780 p.L260 1.000 pfam_Tpt_PEP_trans_dom,pfam_DMT,pfam_UAA pfam_Tpt_PEP_trans_dom,pfam_DMT,pfam_UAA - no_errors SLC35E4 HGNC ENSG00000100036 tier1 - - 71 0 0.00 46 18 28.12 SLC44A5 0 genome.wustl.edu 37 1 75684355 75684355 + Missense_Mutation SNP T T A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 1 75684355 75684355 T A SNP SLC44A5 ENST00000370855 human ensembl 74_37 -1 known missense c.1349 p.H450L 1.000 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A5 HGNC ENSG00000137968 20 0 0.00 18 2 10.00 SLC7A2 0 genome.wustl.edu 37 8 17412103 17412103 + Missense_Mutation SNP A A G TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 8 17412103 17412103 A G SNP SLC7A2 ENST00000004531 human ensembl 74_37 +1 known missense c.1210 p.I404V 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease - no_errors SLC7A2 HGNC ENSG00000003989 tier1 - - 63 0 0.00 32 47 59.49 SLC9A1 0 genome.wustl.edu 37 1 27432219 27432219 + Missense_Mutation SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 1 27432219 27432219 C T SNP SLC9A1 ENST00000374086 human ensembl 74_37 -1 known missense c.1642 p.A548T 0.073 NULL pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A1 HGNC ENSG00000090020 tier1 - - 27 0 0.00 23 4 14.81 SLCO1C1 0 genome.wustl.edu 37 12 20858911 20858911 + Missense_Mutation SNP C C A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 12 20858911 20858911 C A SNP SLCO1C1 ENST00000381552 human ensembl 74_37 +1 known missense c.300 p.S100R 1.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO1C1 HGNC ENSG00000139155 tier1 - - 52 0 0.00 38 14 26.92 SNTB2 0 genome.wustl.edu 37 16 69304146 69304146 + Missense_Mutation SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 16 69304146 69304146 C T SNP SNTB2 ENST00000336278 human ensembl 74_37 +1 known missense c.1106 p.A369V 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTB2 HGNC ENSG00000168807 tier1 - - 54 0 0.00 62 4 6.06 STAC 0 genome.wustl.edu 37 3 36534710 36534710 + Missense_Mutation SNP G G T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 3 36534710 36534710 G T SNP STAC ENST00000273183 human ensembl 74_37 +1 known missense c.755 p.R252L 0.998 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors STAC HGNC ENSG00000144681 tier1 - - 48 0 0.00 20 23 53.49 SYCP2 0 genome.wustl.edu 37 20 58495530 58495530 + Missense_Mutation SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 20 58495530 58495530 C T SNP SYCP2 ENST00000357552 human ensembl 74_37 -1 known missense c.181 p.E61K 0.998 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 tier1 - - 29 0 0.00 22 20 47.62 SYNJ1 0 genome.wustl.edu 37 21 34038867 34038867 + Missense_Mutation SNP G G A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 21 34038867 34038867 G A SNP SYNJ1 ENST00000433931 human ensembl 74_37 -1 known missense c.1945 p.L649F 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ1 HGNC ENSG00000159082 tier1 - - 32 0 0.00 14 16 53.33 SYTL4 0 genome.wustl.edu 37 X 99941718 99941718 + Silent SNP G G T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 X 99941718 99941718 G T SNP SYTL4 ENST00000454200 human ensembl 74_37 -1 known silent c.1251 p.I417 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,prints_Synaptotagmin - no_errors SYTL4 HGNC ENSG00000102362 tier1 - - 51 0 0.00 52 4 7.14 TBCK 0 genome.wustl.edu 37 4 106967751 106967751 + Silent SNP G G T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 4 106967751 106967751 G T SNP TBCK ENST00000273980 human ensembl 74_37 -1 known silent c.2658 p.L886 1.000 smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_Rab-GTPase-TBC_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rhodanese-like_dom,superfamily_Kinase-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Rab-GTPase-TBC_dom,smart_Rhodanese-like_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Prot_kinase_dom,pfscan_Rhodanese-like_dom - no_errors TBCK HGNC ENSG00000145348 33 0 0.00 42 3 6.67 TCHH 0 genome.wustl.edu 37 1 152082711 152082711 + Silent SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 1 152082711 152082711 C T SNP TCHH ENST00000368804 human ensembl 74_37 -1 known silent c.2982 p.E994 0.004 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 tier1 - - 58 0 0.00 57 13 18.57 TFPT 0 genome.wustl.edu 37 19 54617837 54617837 + Nonsense_Mutation SNP G G T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 19 54617837 54617837 G T SNP TFPT ENST00000391759 human ensembl 74_37 -1 known nonsense c.267 p.C89* 1.000 NULL NULL - no_errors TFPT HGNC ENSG00000105619 tier1 - - 47 0 0.00 36 4 10.00 TMCC1 0 genome.wustl.edu 37 3 129370576 129370578 + In_Frame_Del DEL CTG CTG - TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 3 129370576 129370578 CTG - DEL TMCC1 ENST00000393238 human ensembl 74_37 -1 known in_frame_del c.1710_1708 p.Q570in_frame_del 1.000:1.000:1.000 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC1 HGNC ENSG00000172765 tier1 26 0 0.00 26 3 10.34 TMEM132C 0 genome.wustl.edu 37 12 128899509 128899509 + Silent SNP G G A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 12 128899509 128899509 G A SNP TMEM132C ENST00000435159 human ensembl 74_37 +1 known silent c.318 p.K106 0.750 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 tier1 - - 38 0 0.00 34 13 27.66 TMEM33 0 genome.wustl.edu 37 4 41946898 41946898 + Missense_Mutation SNP G G T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 4 41946898 41946898 G T SNP TMEM33 ENST00000325094 human ensembl 74_37 +1 known missense c.485 p.C162F 1.000 pfam_UPF0121 pfam_UPF0121 - no_errors TMEM33 HGNC ENSG00000109133 tier1 - - 50 0 0.00 41 4 8.89 TMTC2 0 genome.wustl.edu 37 12 83289683 83289683 + Silent SNP A A G TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 12 83289683 83289683 A G SNP TMTC2 ENST00000321196 human ensembl 74_37 +1 known silent c.741 p.G247 0.993 pfam_DUF1736 pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC2 HGNC ENSG00000179104 tier1 - - 18 0 0.00 24 13 35.14 TOP1MT 0 genome.wustl.edu 37 8 144400203 144400203 + Silent SNP G G C TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 8 144400203 144400203 G C SNP TOP1MT ENST00000329245 human ensembl 74_37 -1 known silent c.1200 p.L400 1.000 pfam_TopoI_cat_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI - no_errors TOP1MT HGNC ENSG00000184428 tier1 - - 59 0 0.00 41 43 50.59 TP53 0 genome.wustl.edu 37 17 7579358 7579358 + Missense_Mutation SNP C C A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 17 7579358 7579358 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.329 p.R110L 0.004 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 tier1 rs11540654 - 261 0 0.00 142 168 54.19 TRIP4 0 genome.wustl.edu 37 15 64701892 64701892 + Missense_Mutation SNP G G A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 15 64701892 64701892 G A SNP TRIP4 ENST00000261884 human ensembl 74_37 +1 known missense c.908 p.R303Q 1.000 NULL pfam_ASCH_domain,pfam_Znf_C2HC5,superfamily_PUA-like_domain - no_errors TRIP4 HGNC ENSG00000103671 38 0 0.00 37 2 5.13 TRNAU1AP 0 genome.wustl.edu 37 1 28897783 28897783 + Missense_Mutation SNP A A G TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 1 28897783 28897783 A G SNP TRNAU1AP ENST00000373830 human ensembl 74_37 +1 known missense c.626 p.Y209C 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TRNAU1AP HGNC ENSG00000180098 tier1 - - 32 0 0.00 34 19 35.85 TROVE2 0 genome.wustl.edu 37 1 193053997 193053997 + RNA DEL A A - TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 1 193053997 193053997 A - DEL TROVE2 ENST00000460715 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TROVE2 HGNC ENSG00000116747 tier1 15 0 0.00 13 2 13.33 TRPM7 0 genome.wustl.edu 37 15 50867083 50867083 + Missense_Mutation SNP T T C TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 15 50867083 50867083 T C SNP TRPM7 ENST00000313478 human ensembl 74_37 -1 known missense c.4985 p.Y1662C 1.000 pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM7 HGNC ENSG00000092439 tier1 - - 26 0 0.00 19 17 47.22 TTN 0 genome.wustl.edu 37 2 179640737 179640737 + Missense_Mutation SNP G G T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 2 179640737 179640737 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.5854 p.H1952N 0.586 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 tier1 - - 49 0 0.00 60 4 6.25 UBE2V1 0 genome.wustl.edu 37 20 48698866 48698866 + RNA SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 20 48698866 48698866 C T SNP UBE2V1 ENST00000396059 human ensembl 74_37 -1 known rna NULL NULL 0.966 - - - no_errors UBE2V1 HGNC ENSG00000244687 tier1 - - 30 0 0.00 34 11 24.44 USH2A 0 genome.wustl.edu 37 1 216258050 216258050 + Silent SNP G G A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 1 216258050 216258050 G A SNP USH2A ENST00000366943 human ensembl 74_37 -1 known silent c.5157 p.F1719 1.000 superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,pfscan_Laminin_G pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 30 0 0.00 26 10 27.78 USP14 0 genome.wustl.edu 37 18 180329 180329 + Missense_Mutation SNP G G T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 18 180329 180329 G T SNP USP14 ENST00000261601 human ensembl 74_37 +1 known missense c.394 p.A132S 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,smart_Ubiquitin_dom,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP14 HGNC ENSG00000101557 tier1 - - 48 0 0.00 64 4 5.88 VTA1 0 genome.wustl.edu 37 6 142510589 142510589 + Missense_Mutation SNP A A T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 6 142510589 142510589 A T SNP VTA1 ENST00000367630 human ensembl 74_37 +1 known missense c.438 p.R146S 0.989 NULL NULL - no_errors VTA1 HGNC ENSG00000009844 tier1 - - 46 0 0.00 37 26 41.27 VTCN1 0 genome.wustl.edu 37 1 117699294 117699294 + Missense_Mutation SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 1 117699294 117699294 C T SNP VTCN1 ENST00000359008 human ensembl 74_37 -1 known missense c.356 p.R119Q 0.937 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors VTCN1 HGNC ENSG00000134258 tier1 - - 47 0 0.00 47 9 16.07 VTN 0 genome.wustl.edu 37 17 26691418 26691418 + Missense_Mutation SNP G G T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 17 26691418 26691418 G T SNP VTN ENST00000431468 human ensembl 74_37 -1 known missense c.523 p.P175T 0.369 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors VTN HGNC ENSG00000109072 tier1 - - 37 0 0.00 19 22 53.66 WDR36 0 genome.wustl.edu 37 5 110434486 110434486 + Missense_Mutation SNP A A G TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 5 110434486 110434486 A G SNP WDR36 ENST00000506538 human ensembl 74_37 +1 known missense c.526 p.I176V 0.999 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR36 HGNC ENSG00000134987 tier1 - - 13 0 0.00 6 8 57.14 XPNPEP3 0 genome.wustl.edu 37 22 41277988 41277988 + Missense_Mutation SNP C C A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 22 41277988 41277988 C A SNP XPNPEP3 ENST00000357137 human ensembl 74_37 +1 known missense c.396 p.S132R 1.000 pfam_Aminopep_P_N pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain - no_errors XPNPEP3 HGNC ENSG00000196236 tier1 - - 42 0 0.00 58 5 7.94 ZBTB16 0 genome.wustl.edu 37 11 113935103 113935103 + Missense_Mutation SNP G G A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 11 113935103 113935103 G A SNP ZBTB16 ENST00000335953 human ensembl 74_37 +1 known missense c.1081 p.A361T 0.763 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB16 HGNC ENSG00000109906 20 0 0.00 13 2 13.33 ZCCHC2 0 genome.wustl.edu 37 18 60241388 60241388 + Nonsense_Mutation SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 18 60241388 60241388 C T SNP ZCCHC2 ENST00000269499 human ensembl 74_37 +1 known nonsense c.2074 p.Q692* 0.202 NULL pfam_Znf_CCHC,superfamily_Phox,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC2 HGNC ENSG00000141664 tier1 - - 49 0 0.00 32 4 11.11 ZNF326 0 genome.wustl.edu 37 1 90493112 90493112 + Missense_Mutation SNP A A G TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 1 90493112 90493112 A G SNP ZNF326 ENST00000340281 human ensembl 74_37 +1 known missense c.1601 p.N534S 0.003 NULL pfam_AKAP95 - no_errors ZNF326 HGNC ENSG00000162664 tier1 - - 30 0 0.00 21 11 34.38 ZNF354A 0 genome.wustl.edu 37 5 178139089 178139089 + Missense_Mutation SNP T T C TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 5 178139089 178139089 T C SNP ZNF354A ENST00000335815 human ensembl 74_37 -1 known missense c.1790 p.Y597C 0.922 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF354A HGNC ENSG00000169131 tier1 - - 28 0 0.00 15 22 57.89 ZNF404 0 genome.wustl.edu 37 19 44378184 44378185 + Frame_Shift_Ins INS - - T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 19 44378184 44378185 - T INS ZNF404 ENST00000587539 human ensembl 74_37 -1 known frame_shift_ins c.182_181 p.R61fs 0.000:0.004 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF404 HGNC ENSG00000176222 tier1 20 0 0.00 9 9 50.00 ZNF410 0 genome.wustl.edu 37 14 74371780 74371780 + Missense_Mutation SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 14 74371780 74371780 C T SNP ZNF410 ENST00000555044 human ensembl 74_37 +1 known missense c.907 p.H303Y 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF410 HGNC ENSG00000119725 tier1 - - 34 0 0.00 26 6 18.75 ZNF519 0 genome.wustl.edu 37 18 14105961 14105961 + Missense_Mutation SNP G G C TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 18 14105961 14105961 G C SNP ZNF519 ENST00000590202 human ensembl 74_37 -1 known missense c.578 p.S193C 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF519 HGNC ENSG00000175322 tier1 - - 21 0 0.00 16 13 44.83 ZNF780B 0 genome.wustl.edu 37 19 40542336 40542336 + Missense_Mutation SNP T T C TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 19 40542336 40542336 T C SNP ZNF780B ENST00000434248 human ensembl 74_37 -1 known missense c.430 p.I144V 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF780B HGNC ENSG00000128000 tier1 - - 73 0 0.00 55 33 37.50 ZNF816 0 genome.wustl.edu 37 19 53454471 53454471 + Missense_Mutation SNP G G C TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 19 53454471 53454471 G C SNP ZNF816 ENST00000357666 human ensembl 74_37 -1 known missense c.557 p.A186G 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF816 HGNC ENSG00000180257 36 0 0.00 45 4 8.16 ZNF880 0 genome.wustl.edu 37 19 52877708 52877708 + Missense_Mutation SNP G G T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 19 52877708 52877708 G T SNP ZNF880 ENST00000597976 human ensembl 74_37 +1 putative missense c.296 p.G99V 0.001 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF880 HGNC ENSG00000221923 tier1 - - 14 0 0.00 9 7 43.75 ZNF99 0 genome.wustl.edu 37 19 22941211 22941211 + Missense_Mutation SNP C C A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 19 22941211 22941211 C A SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known missense c.1227 p.K409N 0.994 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF99 HGNC ENSG00000213973 tier1 - - 60 0 0.00 46 7 13.21 ZNRD1-AS1 0 genome.wustl.edu 37 6 30026425 30026425 + RNA SNP A A C TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce18b729-6af2-4371-8304-69367a65a0ba a5d81bfd-d31b-4946-9784-ef26c8d85ee9 6 30026425 30026425 A C SNP ZNRD1-AS1 ENST00000422224 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors ZNRD1-AS1 HGNC ENSG00000204623 12 0 0.00 9 4 30.77