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 AGL 0 genome.wustl.edu 37 1 100340287 100340287 + Missense_Mutation SNP A A T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 100340287 100340287 A T SNP AGL ENST00000294724 human ensembl 74_37 +1 known missense c.1003 p.I335F 1.000 superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met - no_errors AGL HGNC ENSG00000162688 55 0 0 48 3 5.88235 VCAM1 0 genome.wustl.edu 37 1 101203814 101203814 + Missense_Mutation SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 101203814 101203814 T C SNP VCAM1 ENST00000294728 human ensembl 74_37 +1 known missense c.2195 p.V732A 1.000 NULL pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_VCAM-1,prints_ICAM_VCAM_N - no_errors VCAM1 HGNC ENSG00000162692 101 0 0 56 37 39.7849 UBE4B 0 genome.wustl.edu 37 1 10166514 10166514 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 10166514 10166514 G A SNP UBE4B ENST00000343090 human ensembl 74_37 +1 known missense c.1069 p.A357T 0.019 NULL pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4B HGNC ENSG00000130939 130 0 0 118 12 9.23077 KIF1B 0 genome.wustl.edu 37 1 10399850 10399850 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 10399850 10399850 C A SNP KIF1B ENST00000263934 human ensembl 74_37 +1 known missense c.3308 p.A1103E 1.000 NULL 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 KIF1B HGNC ENSG00000054523 66 0 0 28 11 28.2051 CASZ1 0 genome.wustl.edu 37 1 10715779 10715779 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 10715779 10715779 G A SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known missense c.1592 p.P531L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 64 0 0 27 10 27.027 CELSR2 0 genome.wustl.edu 37 1 109810548 109810548 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 109810548 109810548 G A SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.6184 p.A2062T 1.000 pfam_DUF3497 pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 29 0 0 24 5 17.2414 AMPD2 0 genome.wustl.edu 37 1 110171328 110171328 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 110171328 110171328 G A SNP AMPD2 ENST00000256578 human ensembl 74_37 +1 known missense c.1633 p.G545R 1.000 pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD2 HGNC ENSG00000116337 20 0 0 16 5 23.8095 SLC6A17 0 genome.wustl.edu 37 1 110734624 110734624 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 110734624 110734624 C T SNP SLC6A17 ENST00000331565 human ensembl 74_37 +1 known missense c.895 p.R299W 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A17 HGNC ENSG00000197106 148 0 0 99 21 17.5 MASP2 0 genome.wustl.edu 37 1 11105485 11105485 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 11105485 11105485 C T SNP MASP2 ENST00000400897 human ensembl 74_37 -1 known missense c.524 p.R175H 0.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors MASP2 HGNC ENSG00000009724 88 0 0 75 10 11.7647 FBXO6 0 genome.wustl.edu 37 1 11728803 11728803 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 11728803 11728803 G T SNP FBXO6 ENST00000376753 human ensembl 74_37 +1 known missense c.88 p.A30S 0.967 pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom pfam_F-box-assoc_dom,pfam_F-box_dom,superfamily_Galactose-bd-like,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom,pfscan_F-box-assoc_dom - no_errors FBXO6 HGNC ENSG00000116663 62 0 0 60 26 30.2326 CD101 0 genome.wustl.edu 37 1 117560078 117560078 + Missense_Mutation SNP T T A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 117560078 117560078 T A SNP CD101 ENST00000256652 human ensembl 74_37 +1 known missense c.1595 p.V532D 0.914 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CD101 HGNC ENSG00000134256 123 0 0 95 10 9.52381 TRIM45 0 genome.wustl.edu 37 1 117656107 117656107 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 117656107 117656107 C A SNP TRIM45 ENST00000256649 human ensembl 74_37 -1 known missense c.1468 p.G490C 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM45 HGNC ENSG00000134253 31 0 0 19 5 20.8333 PLOD1 0 genome.wustl.edu 37 1 12010421 12010421 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 12010421 12010421 G A SNP PLOD1 ENST00000376369 human ensembl 74_37 +1 known missense c.451 p.V151M 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD1 HGNC ENSG00000083444 92 0 0 62 26 29.5455 NOTCH2 0 genome.wustl.edu 37 1 120484286 120484286 + Silent SNP T T G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 120484286 120484286 T G SNP NOTCH2 ENST00000256646 human ensembl 74_37 -1 known silent c.2844 p.T948 0.995 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 79 0 0 46 22 32.3529 AADACL3 0 genome.wustl.edu 37 1 12779563 12779563 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 12779563 12779563 C T SNP AADACL3 ENST00000359318 human ensembl 74_37 +1 known silent c.84 p.P28 0.000 NULL pfam_AB_hydrolase_3 - no_errors AADACL3 HGNC ENSG00000188984 208 0 0 163 76 31.7992 BOLA1 0 genome.wustl.edu 37 1 149872030 149872030 + RNA SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 149872030 149872030 C T SNP BOLA1 ENST00000476344 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors BOLA1 HGNC ENSG00000178096 69 0 0 51 5 8.92857 MTMR11 0 genome.wustl.edu 37 1 149903217 149903217 + Nonsense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 149903217 149903217 G A SNP MTMR11 ENST00000439741 human ensembl 74_37 -1 known nonsense c.1225 p.R409* 1.000 NULL pfam_Myotubularin_assoc,pfam_Myotubularin-like_Pase_dom - no_errors MTMR11 HGNC ENSG00000014914 86 0 0 74 8 9.7561 POGZ 0 genome.wustl.edu 37 1 151378237 151378237 + Missense_Mutation SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 151378237 151378237 T C SNP POGZ ENST00000271715 human ensembl 74_37 -1 known missense c.3274 p.T1092A 0.611 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 93 0 0 77 22 22.2222 FLG2 0 genome.wustl.edu 37 1 152325456 152325456 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 152325456 152325456 G A SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known silent c.4806 p.A1602 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 409 0 0 295 117 28.3981 LCE1C 0 genome.wustl.edu 37 1 152777634 152777634 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 152777634 152777634 G A SNP LCE1C ENST00000368768 human ensembl 74_37 -1 known silent c.321 p.G107 0.032 NULL NULL - no_errors LCE1C HGNC ENSG00000197084 104 0 0 85 44 34.1085 PYGO2 0 genome.wustl.edu 37 1 154931679 154931679 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 154931679 154931679 G T SNP PYGO2 ENST00000368457 human ensembl 74_37 -1 known missense c.797 p.P266H 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PYGO2 HGNC ENSG00000163348 25 0 0 10 2 16.6667 RUSC1 0 genome.wustl.edu 37 1 155291851 155291851 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 155291851 155291851 C T SNP RUSC1 ENST00000368352 human ensembl 74_37 +1 known missense c.287 p.S96F 0.994 NULL pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC1 HGNC ENSG00000160753 43 0 0 28 10 26.3158 TMEM51 0 genome.wustl.edu 37 1 15541698 15541698 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 15541698 15541698 G A SNP TMEM51 ENST00000376008 human ensembl 74_37 +1 known missense c.115 p.A39T 0.000 NULL NULL - no_errors TMEM51 HGNC ENSG00000171729 230 0 0 188 66 25.9843 YY1AP1 0 genome.wustl.edu 37 1 155646486 155646486 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 155646486 155646486 C A SNP YY1AP1 ENST00000368339 human ensembl 74_37 -1 known missense c.591 p.K197N 1.000 NULL NULL - no_errors YY1AP1 HGNC ENSG00000163374 127 0 0 105 32 23.3577 RXFP4 0 genome.wustl.edu 37 1 155911816 155911816 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 155911816 155911816 C A SNP RXFP4 ENST00000368318 human ensembl 74_37 +1 known missense c.316 p.H106N 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_ATII_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors RXFP4 HGNC ENSG00000173080 64 0 0 60 18 23.0769 FCRL5 0 genome.wustl.edu 37 1 157494244 157494244 + Silent SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 157494244 157494244 T C SNP FCRL5 ENST00000356953 human ensembl 74_37 -1 known silent c.2064 p.P688 0.009 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL5 HGNC ENSG00000143297 102 0 0 94 22 18.9655 OR6Y1 0 genome.wustl.edu 37 1 158517497 158517497 + Missense_Mutation SNP A A T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 158517497 158517497 A T SNP OR6Y1 ENST00000302617 human ensembl 74_37 -1 known missense c.399 p.N133K 0.060 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6Y1 HGNC ENSG00000197532 55 0 0 40 11 21.5686 DNAJC16 0 genome.wustl.edu 37 1 15894398 15894398 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 15894398 15894398 G A SNP DNAJC16 ENST00000375847 human ensembl 74_37 +1 known missense c.2075 p.R692H 0.555 NULL pfam_DnaJ_domain,pfam_Thioredoxin_domain,superfamily_DnaJ_domain,superfamily_Thioredoxin-like_fold,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC16 HGNC ENSG00000116138 167 0 0 133 44 24.8588 ATP1A4 0 genome.wustl.edu 37 1 160146025 160146025 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 160146025 160146025 G A SNP ATP1A4 ENST00000368081 human ensembl 74_37 +1 known missense c.2455 p.G819S 1.000 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A4 HGNC ENSG00000132681 136 0 0 94 47 33.3333 ARHGAP30 0 genome.wustl.edu 37 1 161017809 161017809 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 161017809 161017809 A G SNP ARHGAP30 ENST00000368013 human ensembl 74_37 -1 known missense c.3002 p.V1001A 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 92 0 0 78 29 27.1028 NIT1 0 genome.wustl.edu 37 1 161087898 161087898 + RNA SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 161087898 161087898 C A SNP NIT1 ENST00000479266 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors NIT1 HGNC ENSG00000158793 37 0 0 32 13 28.8889 C1orf192 0 genome.wustl.edu 37 1 161334773 161334773 + Silent SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 161334773 161334773 T C SNP C1orf192 ENST00000367974 human ensembl 74_37 -1 known silent c.516 p.Q172 0.011 NULL NULL - no_errors C1orf192 HGNC ENSG00000188931 133 0 0 117 48 29.0909 FCRLA 0 genome.wustl.edu 37 1 161681834 161681834 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 161681834 161681834 C T SNP FCRLA ENST00000367959 human ensembl 74_37 +1 known missense c.679 p.R227C 0.017 smart_Ig_sub,pfscan_Ig-like_dom smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCRLA HGNC ENSG00000132185 126 0 0 121 44 26.6667 SELP 0 genome.wustl.edu 37 1 169581513 169581513 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 169581513 169581513 C T SNP SELP ENST00000263686 human ensembl 74_37 -1 known silent c.903 p.P301 0.179 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELP HGNC ENSG00000174175 117 0 0 79 36 31.3043 PRRX1 0 genome.wustl.edu 37 1 170688909 170688909 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 170688909 170688909 G A SNP PRRX1 ENST00000239461 human ensembl 74_37 +1 known missense c.284 p.R95Q 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors PRRX1 HGNC ENSG00000116132 38 0 0 38 15 28.3019 SUCO 0 genome.wustl.edu 37 1 172569271 172569271 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 172569271 172569271 C T SNP SUCO ENST00000608151 human ensembl 74_37 +1 known missense c.3437 p.S1146L 1.000 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUCO HGNC ENSG00000094975 38 0 0 22 14 38.8889 CROCC 0 genome.wustl.edu 37 1 17295652 17295652 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 17295652 17295652 C T SNP CROCC ENST00000375541 human ensembl 74_37 +1 known silent c.5118 p.T1706 0.057 superfamily_Prefoldin superfamily_Prefoldin,superfamily_t-SNARE - no_errors CROCC HGNC ENSG00000058453 25 0 0 22 7 24.1379 CACNA1E 0 genome.wustl.edu 37 1 181732633 181732633 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 181732633 181732633 G A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.4781 p.R1594H 0.999 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 58 0 0 50 21 29.5775 NCF2 0 genome.wustl.edu 37 1 183534904 183534904 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 183534904 183534904 G T SNP NCF2 ENST00000367535 human ensembl 74_37 -1 known missense c.935 p.S312Y 0.045 superfamily_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_TPR_1,pfam_OPR_PB1,superfamily_SH3_domain,smart_TPR_repeat,smart_SH3_domain,smart_OPR_PB1,pfscan_SH3_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_p67phox,prints_SH3_domain - no_errors NCF2 HGNC ENSG00000116701 96 0 0 53 27 33.75 HMCN1 0 genome.wustl.edu 37 1 186092099 186092099 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 186092099 186092099 C T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known silent c.12246 p.S4082 0.000 pfam_Ig_I-set,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 66 0 0 70 8 10.2564 C1orf27 0 genome.wustl.edu 37 1 186368120 186368120 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 186368120 186368120 A G SNP C1orf27 ENST00000287859 human ensembl 74_37 +1 known missense c.944 p.D315G 1.000 NULL NULL - no_errors C1orf27 HGNC ENSG00000157181 30 0 0 30 4 11.7647 UBR4 0 genome.wustl.edu 37 1 19513722 19513722 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 19513722 19513722 C T SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.1568 p.R523Q 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 46 0 0 41 13 24.0741 NEK7 0 genome.wustl.edu 37 1 198231732 198231732 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 198231732 198231732 C T SNP NEK7 ENST00000367385 human ensembl 74_37 +1 known missense c.226 p.R76C 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK7 HGNC ENSG00000151414 197 0 0 111 39 26 ELF3 0 genome.wustl.edu 37 1 201981273 201981273 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 201981273 201981273 G T SNP ELF3 ENST00000359651 human ensembl 74_37 +1 known missense c.352 p.G118W 1.000 pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELF3 HGNC ENSG00000163435 55 0 0 60 11 15.493 ATP2B4 0 genome.wustl.edu 37 1 203682345 203682345 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 203682345 203682345 G A SNP ATP2B4 ENST00000357681 human ensembl 74_37 +1 known missense c.2264 p.R755Q 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B4 HGNC ENSG00000058668 155 0 0 121 45 27.1084 PFKFB2 0 genome.wustl.edu 37 1 207238492 207238492 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 207238492 207238492 G A SNP PFKFB2 ENST00000367080 human ensembl 74_37 +1 known missense c.619 p.D207N 1.000 pfam_6Phosfructo_kin,superfamily_P-loop_NTPase,pirsf_Bifunct_6PFK/fruc_bisP_Ptase pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB2 HGNC ENSG00000123836 123 0 0 90 29 24.3697 C1orf115 0 genome.wustl.edu 37 1 220869960 220869960 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 220869960 220869960 G A SNP C1orf115 ENST00000294889 human ensembl 74_37 +1 known missense c.316 p.G106R 0.984 NULL NULL - no_errors C1orf115 HGNC ENSG00000162817 168 0 0 128 36 21.9512 NVL 0 genome.wustl.edu 37 1 224455820 224455820 + Nonsense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 224455820 224455820 G A SNP NVL ENST00000281701 human ensembl 74_37 -1 known nonsense c.2098 p.R700* 1.000 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NVL HGNC ENSG00000143748 71 0 0 49 18 26.8657 JMJD4 0 genome.wustl.edu 37 1 227922492 227922492 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 227922492 227922492 G A SNP JMJD4 ENST00000366758 human ensembl 74_37 -1 known silent c.426 p.N142 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD4 HGNC ENSG00000081692 77 0 0 51 6 10.5263 GUK1 0 genome.wustl.edu 37 1 228335202 228335202 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 228335202 228335202 G A SNP GUK1 ENST00000366722 human ensembl 74_37 +1 known missense c.347 p.R116Q 0.001 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like,tigrfam_Guanylate_kinase pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like,tigrfam_Guanylate_kinase - no_errors GUK1 HGNC ENSG00000143774 170 0 0 144 17 10.559 OBSCN 0 genome.wustl.edu 37 1 228468013 228468013 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 228468013 228468013 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.7797 p.N2599 0.975 pfam_Ig_I-set,smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 25 0 0 15 8 34.7826 NUP133 0 genome.wustl.edu 37 1 229631683 229631683 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 229631683 229631683 C A SNP NUP133 ENST00000261396 human ensembl 74_37 -1 known missense c.931 p.D311Y 1.000 pfam_Nucleoporin_Nup133/Nup155_N pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N - no_errors NUP133 HGNC ENSG00000069248 82 0 0 81 7 7.95455 EXOC8 0 genome.wustl.edu 37 1 231472113 231472113 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 231472113 231472113 C A SNP EXOC8 ENST00000360394 human ensembl 74_37 -1 known missense c.1379 p.C460F 1.000 superfamily_Cullin_repeat-like_dom superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors EXOC8 HGNC ENSG00000116903 84 0 0 59 6 9.23077 SIPA1L2 0 genome.wustl.edu 37 1 232581405 232581405 + Nonsense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 232581405 232581405 G A SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known nonsense c.3223 p.Q1075* 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 92 0 0 73 26 26.2626 KDM1A 0 genome.wustl.edu 37 1 23405511 23405511 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 23405511 23405511 C T SNP KDM1A ENST00000542151 human ensembl 74_37 +1 known silent c.1896 p.R632 0.998 pfam_Amino_oxidase,pirsf_Hist_Lys-spec_deMease pfam_Amino_oxidase,pfam_SWIRM,pfam_FAD-dep_OxRdtase,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pirsf_Hist_Lys-spec_deMease,pfscan_SWIRM - no_errors KDM1A HGNC ENSG00000004487 235 0 0 175 66 27.3859 SLC35F3 0 genome.wustl.edu 37 1 234367256 234367256 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 234367256 234367256 C T SNP SLC35F3 ENST00000366617 human ensembl 74_37 +1 known missense c.170 p.T57M 0.996 NULL pfam_DMT,pfam_Tpt_PEP_trans_dom,pfam_SLC35_F1/F2/F6 - no_errors SLC35F3 HGNC ENSG00000183780 98 0 0 52 18 25.7143 RYR2 0 genome.wustl.edu 37 1 237923126 237923126 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 237923126 237923126 C T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known silent c.11394 p.S3798 1.000 NULL 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,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 146 0 0 103 52 33.5484 FH 0 genome.wustl.edu 37 1 241680522 241680522 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 241680522 241680522 G A SNP FH ENST00000366560 human ensembl 74_37 -1 known missense c.227 p.T76M 1.000 pfam_Fumarate_lyase_N,superfamily_L-Aspartase-like,tigrfam_Fum_hydII pfam_Fumarate_lyase_N,pfam_Fumarase_C_C,superfamily_L-Aspartase-like,prints_Fumarate_lyase_fam,tigrfam_Fum_hydII - no_errors FH HGNC ENSG00000091483 80 0 0 88 20 18.5185 OR2G6 0 genome.wustl.edu 37 1 248685355 248685355 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 248685355 248685355 G A SNP OR2G6 ENST00000343414 human ensembl 74_37 +1 known missense c.408 p.M136I 0.997 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G6 HGNC ENSG00000188558 55 0 0 42 12 22.2222 SH3BP5L 0 genome.wustl.edu 37 1 249108743 249108743 + Nonsense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 249108743 249108743 G A SNP SH3BP5L ENST00000366472 human ensembl 74_37 -1 known nonsense c.442 p.R148* 1.000 pfam_SH3-bd_5 pfam_SH3-bd_5 - no_errors SH3BP5L HGNC ENSG00000175137 49 0 0 35 11 23.913 WDTC1 0 genome.wustl.edu 37 1 27618840 27618840 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 27618840 27618840 G A SNP WDTC1 ENST00000319394 human ensembl 74_37 +1 known missense c.614 p.S205N 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC ENSG00000142784 88 0 0 76 24 24 AHDC1 0 genome.wustl.edu 37 1 27875931 27875931 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 27875931 27875931 G A SNP AHDC1 ENST00000247087 human ensembl 74_37 -1 known missense c.2696 p.A899V 0.876 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 61 0 0 39 18 31.5789 TRIM62 0 genome.wustl.edu 37 1 33623903 33623903 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 33623903 33623903 G A SNP TRIM62 ENST00000291416 human ensembl 74_37 -1 known silent c.828 p.G276 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM62 HGNC ENSG00000116525 176 0 0 126 30 19.2308 C1orf94 0 genome.wustl.edu 37 1 34677853 34677853 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 34677853 34677853 C T SNP C1orf94 ENST00000488417 human ensembl 74_37 +1 known missense c.1567 p.R523C 0.997 NULL NULL - no_errors C1orf94 HGNC ENSG00000142698 97 0 0 84 11 11.5789 TP73-AS1 0 genome.wustl.edu 37 1 3659653 3659653 + RNA SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 3659653 3659653 C T SNP TP73-AS1 ENST00000418088 human ensembl 74_37 -1 known rna NULL NULL 0.013 - - - no_errors TP73-AS1 HGNC ENSG00000227372 21 0 0 10 4 28.5714 THRAP3 0 genome.wustl.edu 37 1 36752298 36752298 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 36752298 36752298 G A SNP THRAP3 ENST00000354618 human ensembl 74_37 +1 known missense c.467 p.R156H 1.000 NULL NULL - no_errors THRAP3 HGNC ENSG00000054118 390 0 0 225 130 36.6197 GRIK3 0 genome.wustl.edu 37 1 37270561 37270561 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 37270561 37270561 G A SNP GRIK3 ENST00000373093 human ensembl 74_37 -1 known silent c.2592 p.H864 0.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 48 0 0 59 5 7.8125 GRIK3 0 genome.wustl.edu 37 1 37316021 37316021 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 37316021 37316021 C A SNP GRIK3 ENST00000373091 human ensembl 74_37 -1 known missense c.1217 p.G406V 0.995 superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 83 0 0 56 32 36.3636 GUCA2A 0 genome.wustl.edu 37 1 42629124 42629124 + Missense_Mutation SNP A A T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 42629124 42629124 A T SNP GUCA2A ENST00000357001 human ensembl 74_37 -1 known missense c.233 p.L78H 0.297 pfam_Guanylin,superfamily_Guanylin,pirsf_Guanylin,prints_Guanylin pfam_Guanylin,superfamily_Guanylin,pirsf_Guanylin,prints_Guanylin - no_errors GUCA2A HGNC ENSG00000197273 50 0 0 27 14 34.1463 LEPRE1 0 genome.wustl.edu 37 1 43215937 43215937 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 43215937 43215937 C T SNP LEPRE1 ENST00000236040 human ensembl 74_37 -1 known missense c.1640 p.R547H 0.731 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPRE1 HGNC ENSG00000117385 44 0 0 25 8 24.2424 ERMAP 0 genome.wustl.edu 37 1 43308910 43308910 + RNA SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 43308910 43308910 G A SNP ERMAP ENST00000487556 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ERMAP HGNC ENSG00000164010 32 0 0 13 10 43.4783 SLC2A1 0 genome.wustl.edu 37 1 43394615 43394615 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 43394615 43394615 C T SNP SLC2A1 ENST00000426263 human ensembl 74_37 -1 known silent c.1062 p.A354 0.036 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Glu_transpt_1,tigrfam_Sugar/inositol_transpt - no_errors SLC2A1 HGNC ENSG00000117394 173 0 0 130 35 21.2121 RNF220 0 genome.wustl.edu 37 1 45116433 45116433 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 45116433 45116433 A G SNP RNF220 ENST00000355387 human ensembl 74_37 +1 known missense c.1687 p.R563G 1.000 NULL superfamily_Peptidase_M20_dimer,pfscan_Znf_RING - no_errors RNF220 HGNC ENSG00000187147 92 0 0 73 27 27 PTCH2 0 genome.wustl.edu 37 1 45292921 45292921 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 45292921 45292921 C T SNP PTCH2 ENST00000372192 human ensembl 74_37 -1 known missense c.2432 p.R811H 1.000 tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH2 HGNC ENSG00000117425 131 0 0 94 29 23.5772 STIL 0 genome.wustl.edu 37 1 47717280 47717280 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 47717280 47717280 C T SNP STIL ENST00000371877 human ensembl 74_37 -1 known missense c.3395 p.S1132N 1.000 NULL NULL - no_errors STIL HGNC ENSG00000123473 186 0 0 136 47 25.6831 MROH7-TTC4 0 genome.wustl.edu 37 1 55119766 55119766 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 55119766 55119766 G A SNP MROH7-TTC4 ENST00000414150 human ensembl 74_37 +1 known silent c.1167 p.P389 0.000 NULL superfamily_ARM-type_fold - no_errors MROH7-TTC4 HGNC ENSG00000271723 41 0 0 19 5 20.8333 MROH7-TTC4 0 genome.wustl.edu 37 1 55139382 55139382 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 55139382 55139382 G A SNP MROH7-TTC4 ENST00000414150 human ensembl 74_37 +1 known silent c.1704 p.G568 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH7-TTC4 HGNC ENSG00000271723 200 0 0 109 47 30.1282 DOCK7 0 genome.wustl.edu 37 1 63008278 63008278 + Splice_Site SNP C C G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 63008278 63008278 C G SNP DOCK7 ENST00000251157 human ensembl 74_37 -1 known splice_site c.3045+1 e25+1 1.000 - - - no_errors DOCK7 HGNC ENSG00000116641 90 0 0 68 19 21.8391 ROR1 0 genome.wustl.edu 37 1 64515507 64515507 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 64515507 64515507 G A SNP ROR1 ENST00000371079 human ensembl 74_37 +1 known missense c.308 p.R103Q 1.000 pirsf_Tyr_kinase_rcpt_ROR,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors ROR1 HGNC ENSG00000185483 192 0 0 143 48 25.1309 DEPDC1 0 genome.wustl.edu 37 1 68944833 68944833 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 68944833 68944833 C T SNP DEPDC1 ENST00000456315 human ensembl 74_37 -1 known silent c.2106 p.K702 0.931 NULL pfam_DEP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC1 HGNC ENSG00000024526 77 0 0 46 25 35.2113 LRRC7 0 genome.wustl.edu 37 1 70504369 70504369 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 70504369 70504369 G A SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known silent c.2748 p.P916 0.997 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 69 0 0 64 17 20.9877 HHLA3 0 genome.wustl.edu 37 1 70820864 70820864 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 70820864 70820864 C T SNP HHLA3 ENST00000432224 human ensembl 74_37 +1 known missense c.230 p.A77V 0.000 NULL NULL - no_errors HHLA3 HGNC ENSG00000197568 42 0 0 29 7 19.4444 PTGER3 0 genome.wustl.edu 37 1 71513128 71513128 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 71513128 71513128 C T SNP PTGER3 ENST00000354608 human ensembl 74_37 -1 known missense c.133 p.E45K 0.657 prints_Prostglndn_EP3_rcpt,prints_EP3_rcpt_2 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP3_rcpt,prints_Prostanoid_rcpt,prints_EP3_rcpt_2,prints_Prostglndn_DP_rcpt,prints_GPCR_Rhodpsn,prints_Thbox_rcpt - no_errors PTGER3 HGNC ENSG00000050628 54 0 0 38 4 9.52381 C1orf173 0 genome.wustl.edu 37 1 75038995 75038995 + Missense_Mutation SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 75038995 75038995 T C SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.2399 p.E800G 0.000 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 154 0 0 124 53 29.9435 COL24A1 0 genome.wustl.edu 37 1 86554903 86554903 + Missense_Mutation SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 86554903 86554903 T C SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known missense c.1661 p.Q554R 0.561 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 105 0 0 60 26 30.2326 GBP7 0 genome.wustl.edu 37 1 89618395 89618395 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 89618395 89618395 G A SNP GBP7 ENST00000294671 human ensembl 74_37 -1 known silent c.384 p.Y128 1.000 pfam_Guanylate-bd_N,superfamily_P-loop_NTPase pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP7 HGNC ENSG00000213512 86 0 0 48 15 23.8095 GBP5 0 genome.wustl.edu 37 1 89735135 89735135 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 89735135 89735135 G A SNP GBP5 ENST00000343435 human ensembl 74_37 -1 known missense c.104 p.T35M 0.000 pfam_Guanylate-bd_N,superfamily_P-loop_NTPase pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP5 HGNC ENSG00000154451 262 0 0 202 65 24.3446 AGRN 0 genome.wustl.edu 37 1 989314 989314 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 989314 989314 G A SNP AGRN ENST00000379370 human ensembl 74_37 +1 known missense c.5833 p.V1945M 0.993 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom - no_errors AGRN HGNC ENSG00000188157 14 0 0 9 5 35.7143 PDZD7 0 genome.wustl.edu 37 10 102777873 102777873 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 102777873 102777873 C T SNP PDZD7 ENST00000370215 human ensembl 74_37 -1 known missense c.1505 p.R502H 0.004 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD7 HGNC ENSG00000186862 137 0 0 91 41 31.0606 TMEM180 0 genome.wustl.edu 37 10 104235578 104235578 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 104235578 104235578 G A SNP TMEM180 ENST00000238936 human ensembl 74_37 +1 known missense c.1391 p.R464H 1.000 NULL superfamily_MFS_dom_general_subst_transpt - no_errors TMEM180 HGNC ENSG00000138111 55 0 0 50 7 12.2807 ACTR1A 0 genome.wustl.edu 37 10 104248876 104248876 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 104248876 104248876 C T SNP ACTR1A ENST00000369905 human ensembl 74_37 -1 known missense c.133 p.V45I 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTR1A HGNC ENSG00000138107 190 0 0 115 55 32.3529 CALHM2 0 genome.wustl.edu 37 10 105209699 105209699 + RNA SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 105209699 105209699 G A SNP CALHM2 ENST00000494180 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors CALHM2 HGNC ENSG00000138172 63 0 0 48 31 39.2405 C10orf118 0 genome.wustl.edu 37 10 115917403 115917403 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 115917403 115917403 G A SNP C10orf118 ENST00000369287 human ensembl 74_37 -1 known silent c.669 p.F223 0.998 NULL superfamily_Prefoldin - no_errors C10orf118 HGNC ENSG00000165813 66 0 0 49 20 28.9855 TRUB1 0 genome.wustl.edu 37 10 116698094 116698094 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 116698094 116698094 G A SNP TRUB1 ENST00000298746 human ensembl 74_37 +1 known missense c.82 p.V28I 0.005 NULL pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom,tigrfam_tRNA_psdUridine_synth_TruB - no_errors TRUB1 HGNC ENSG00000165832 34 0 0 26 10 27.7778 CDC123 0 genome.wustl.edu 37 10 12292413 12292413 + RNA SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 12292413 12292413 C T SNP CDC123 ENST00000498747 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CDC123 HGNC ENSG00000151465 31 0 0 24 10 29.4118 ADARB2 0 genome.wustl.edu 37 10 1279636 1279636 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 1279636 1279636 G A SNP ADARB2 ENST00000381312 human ensembl 74_37 -1 known silent c.1513 p.L505 0.943 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADARB2 HGNC ENSG00000185736 172 0 0 133 37 21.7647 MKI67 0 genome.wustl.edu 37 10 129904162 129904162 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 129904162 129904162 C T SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.5942 p.C1981Y 0.000 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 309 0 0 254 100 28.2486 MKI67 0 genome.wustl.edu 37 10 129907312 129907312 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 129907312 129907312 G A SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.2792 p.T931I 0.000 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 131 0 0 97 34 25.9542 CYP2E1 0 genome.wustl.edu 37 10 135352460 135352460 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 135352460 135352460 C T SNP CYP2E1 ENST00000252945 human ensembl 74_37 +1 known missense c.1474 p.R492C 0.946 superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2E-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2E1 HGNC ENSG00000130649 36 0 0 70 6 7.89474 DCLRE1C 0 genome.wustl.edu 37 10 14961737 14961737 + Nonsense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 14961737 14961737 C A SNP DCLRE1C ENST00000378278 human ensembl 74_37 -1 known nonsense c.1156 p.E386* 1.000 NULL pfam_DRMBL - no_errors DCLRE1C HGNC ENSG00000152457 106 0 0 79 27 25.4717 CUBN 0 genome.wustl.edu 37 10 16967768 16967768 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 16967768 16967768 C T SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.6277 p.G2093S 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 57 0 0 35 8 18.6047 ARMC3 0 genome.wustl.edu 37 10 23287247 23287247 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 23287247 23287247 G A SNP ARMC3 ENST00000298032 human ensembl 74_37 +1 known missense c.1346 p.R449H 0.001 superfamily_ARM-type_fold pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC3 HGNC ENSG00000165309 27 0 0 17 9 34.6154 YME1L1 0 genome.wustl.edu 37 10 27403517 27403517 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 27403517 27403517 C T SNP YME1L1 ENST00000326799 human ensembl 74_37 -1 known missense c.2111 p.S704N 0.999 pfam_Peptidase_M41,tigrfam_FtsH pfam_Peptidase_M41,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH - no_errors YME1L1 HGNC ENSG00000136758 72 0 0 65 16 19.7531 KLF6 0 genome.wustl.edu 37 10 3823983 3823983 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 3823983 3823983 G A SNP KLF6 ENST00000497571 human ensembl 74_37 -1 known missense c.526 p.R176C 0.896 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF6 HGNC ENSG00000067082 123 0 0 91 34 27.2 CSGALNACT2 0 genome.wustl.edu 37 10 43651044 43651044 + Silent SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 43651044 43651044 A G SNP CSGALNACT2 ENST00000374466 human ensembl 74_37 +1 known silent c.447 p.E149 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CSGALNACT2 HGNC ENSG00000169826 62 0 0 48 7 12.7273 ZFAND4 0 genome.wustl.edu 37 10 46121925 46121925 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 46121925 46121925 A G SNP ZFAND4 ENST00000344646 human ensembl 74_37 -1 known missense c.1346 p.L449P 0.006 NULL pfam_Ubiquitin_dom,pfam_Znf_AN1,smart_Ubiquitin_dom,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors ZFAND4 HGNC ENSG00000172671 269 0 0 178 76 29.9213 VSTM4 0 genome.wustl.edu 37 10 50227718 50227718 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 50227718 50227718 G T SNP VSTM4 ENST00000332853 human ensembl 74_37 -1 known missense c.940 p.L314I 1.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors VSTM4 HGNC ENSG00000165633 61 0 0 46 15 24.5902 ERCC6 0 genome.wustl.edu 37 10 50740632 50740632 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 50740632 50740632 C T SNP ERCC6 ENST00000355832 human ensembl 74_37 -1 known missense c.379 p.V127I 0.994 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 111 0 0 62 22 26.1905 NET1 0 genome.wustl.edu 37 10 5496975 5496975 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 5496975 5496975 A G SNP NET1 ENST00000355029 human ensembl 74_37 +1 known missense c.1091 p.Y364C 1.000 superfamily_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors NET1 HGNC ENSG00000173848 103 0 0 87 34 28.0992 PCDH15 0 genome.wustl.edu 37 10 55587205 55587205 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 55587205 55587205 G A SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.4315 p.P1439S 0.997 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 79 0 0 63 20 24.0964 FBXO18 0 genome.wustl.edu 37 10 5948351 5948351 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 5948351 5948351 C T SNP FBXO18 ENST00000379999 human ensembl 74_37 +1 known missense c.662 p.T221M 0.000 NULL pfam_UvrD-like_ATP-bd,pfam_F-box_dom,superfamily_P-loop_NTPase,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO18 HGNC ENSG00000134452 44 0 0 49 4 7.54717 ARID5B 0 genome.wustl.edu 37 10 63851103 63851103 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 63851103 63851103 C T SNP ARID5B ENST00000279873 human ensembl 74_37 +1 known silent c.1881 p.T627 0.631 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5B HGNC ENSG00000150347 50 0 0 37 13 26 LRRTM3 0 genome.wustl.edu 37 10 68687773 68687773 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 68687773 68687773 G A SNP LRRTM3 ENST00000361320 human ensembl 74_37 +1 known missense c.1099 p.E367K 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM3 HGNC ENSG00000198739 90 0 0 76 23 23.2323 CDH23 0 genome.wustl.edu 37 10 73485183 73485183 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 73485183 73485183 G T SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative missense c.3500 p.G1167V 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 46 0 0 35 7 16.6667 ANXA7 0 genome.wustl.edu 37 10 75143062 75143062 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 75143062 75143062 G A SNP ANXA7 ENST00000372919 human ensembl 74_37 -1 known silent c.855 p.C285 1.000 pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinVII,prints_AnnexinIV - no_errors ANXA7 HGNC ENSG00000138279 40 0 0 32 11 25.5814 ITIH5 0 genome.wustl.edu 37 10 7708805 7708805 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 7708805 7708805 C T SNP ITIH5 ENST00000256861 human ensembl 74_37 -1 known silent c.51 p.S17 0.007 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 55 0 0 53 4 7.01754 GRID1 0 genome.wustl.edu 37 10 87487639 87487639 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 87487639 87487639 G A SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known silent c.1506 p.N502 0.990 pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 116 0 0 72 42 36.8421 FFAR4 0 genome.wustl.edu 37 10 95347049 95347049 + Nonsense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 95347049 95347049 C T SNP FFAR4 ENST00000371483 human ensembl 74_37 +1 known nonsense c.817 p.Q273* 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors FFAR4 HGNC ENSG00000186188 122 0 0 101 41 28.8732 PDE6C 0 genome.wustl.edu 37 10 95422382 95422382 + Silent SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 95422382 95422382 T C SNP PDE6C ENST00000371447 human ensembl 74_37 +1 known silent c.2349 p.V783 0.993 pfam_PDEase_catalytic_dom pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6C HGNC ENSG00000095464 51 0 0 50 20 28.5714 PLCE1 0 genome.wustl.edu 37 10 95987095 95987095 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 95987095 95987095 G A SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known silent c.1842 p.T614 0.044 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 75 0 0 80 25 23.8095 CYP2C19 0 genome.wustl.edu 37 10 96535263 96535263 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 96535263 96535263 C T SNP CYP2C19 ENST00000371321 human ensembl 74_37 +1 known missense c.448 p.R150C 0.031 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C19 HGNC ENSG00000165841 206 0 0 174 11 5.94595 NPAT 0 genome.wustl.edu 37 11 108031933 108031933 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 108031933 108031933 G A SNP NPAT ENST00000278612 human ensembl 74_37 -1 known missense c.3880 p.R1294C 0.976 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors NPAT HGNC ENSG00000149308 110 0 0 120 10 7.69231 ATM 0 genome.wustl.edu 37 11 108170454 108170454 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 108170454 108170454 C T SNP ATM ENST00000278616 human ensembl 74_37 +1 known silent c.5019 p.S1673 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 220 0 0 131 42 24.2775 DRD2 0 genome.wustl.edu 37 11 113281585 113281585 + Missense_Mutation SNP C C G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 113281585 113281585 C G SNP DRD2 ENST00000355319 human ensembl 74_37 -1 known missense c.1202 p.C401S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D2_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D2_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD2 HGNC ENSG00000149295 105 0 0 65 38 36.8932 NXPE1 0 genome.wustl.edu 37 11 114401164 114401164 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 114401164 114401164 G A SNP NXPE1 ENST00000424269 human ensembl 74_37 -1 known missense c.566 p.A189V 0.002 pfam_NXPH/NXPE pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE1 HGNC ENSG00000095110 102 0 0 56 33 37.0787 UBE4A 0 genome.wustl.edu 37 11 118253491 118253491 + Missense_Mutation SNP G G C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 118253491 118253491 G C SNP UBE4A ENST00000431736 human ensembl 74_37 +1 known missense c.2218 p.G740R 1.000 pfam_Ub_conjug_fac_E4_core pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4A HGNC ENSG00000110344 95 0 0 83 41 33.0645 KMT2A 0 genome.wustl.edu 37 11 118374689 118374689 + Silent SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 118374689 118374689 A G SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known silent c.8073 p.S2691 0.379 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 71 0 0 36 14 28 BCL9L 0 genome.wustl.edu 37 11 118773197 118773197 + Nonsense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 118773197 118773197 G A SNP BCL9L ENST00000334801 human ensembl 74_37 -1 known nonsense c.1255 p.R419* 1.000 pfam_BCL9_beta-catenin-bd_dom pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 58 0 0 28 17 37.7778 CCDC153 0 genome.wustl.edu 37 11 119063872 119063872 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 119063872 119063872 C T SNP CCDC153 ENST00000415318 human ensembl 74_37 -1 known missense c.338 p.R113Q 0.000 superfamily_t-SNARE superfamily_t-SNARE - no_errors CCDC153 HGNC ENSG00000248712 117 1 0.847458 68 28 29.1667 TBCEL 0 genome.wustl.edu 37 11 120924331 120924331 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 120924331 120924331 G A SNP TBCEL ENST00000422003 human ensembl 74_37 +1 known silent c.345 p.S115 0.834 NULL pfscan_Ubiquitin_supergroup - no_errors TBCEL HGNC ENSG00000154114 115 0 0 105 20 16 TECTA 0 genome.wustl.edu 37 11 120976630 120976630 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 120976630 120976630 C T SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.155 p.A52V 1.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 250 0 0 173 59 25.431 OR8B2 0 genome.wustl.edu 37 11 124253126 124253126 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 124253126 124253126 G A SNP OR8B2 ENST00000375013 human ensembl 74_37 -1 known silent c.114 p.T38 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8B2 HGNC ENSG00000204293 139 0 0 86 36 29.5082 CCDC15 0 genome.wustl.edu 37 11 124845056 124845056 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 124845056 124845056 A G SNP CCDC15 ENST00000344762 human ensembl 74_37 +1 known missense c.581 p.K194R 0.000 NULL NULL - no_errors CCDC15 HGNC ENSG00000149548 32 0 0 21 6 22.2222 ARHGAP32 0 genome.wustl.edu 37 11 128840436 128840436 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 128840436 128840436 C T SNP ARHGAP32 ENST00000310343 human ensembl 74_37 -1 known missense c.4630 p.A1544T 0.000 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 81 0 0 43 14 24.5614 ARHGAP32 0 genome.wustl.edu 37 11 128856447 128856447 + Missense_Mutation SNP A A T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 128856447 128856447 A T SNP ARHGAP32 ENST00000310343 human ensembl 74_37 -1 known missense c.1373 p.L458H 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 67 0 0 50 20 28.5714 PRDM10 0 genome.wustl.edu 37 11 129800918 129800918 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 129800918 129800918 C T SNP PRDM10 ENST00000358825 human ensembl 74_37 -1 known missense c.1523 p.R508H 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM10 HGNC ENSG00000170325 87 0 0 61 37 37.7551 B3GAT1 0 genome.wustl.edu 37 11 134257522 134257522 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 134257522 134257522 A G SNP B3GAT1 ENST00000537389 human ensembl 74_37 -1 known missense c.71 p.V24A 1.000 NULL pfam_Glyco_trans_43 - no_errors B3GAT1 HGNC ENSG00000109956 74 0 0 43 11 20.3704 CTSD 0 genome.wustl.edu 37 11 1780837 1780837 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 1780837 1780837 C T SNP CTSD ENST00000236671 human ensembl 74_37 -1 known silent c.261 p.T87 0.001 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors CTSD HGNC ENSG00000117984 71 0 0 49 22 30.9859 IGSF22 0 genome.wustl.edu 37 11 18741263 18741263 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 18741263 18741263 C A SNP IGSF22 ENST00000513874 human ensembl 74_37 -1 known missense c.696 p.E232D 0.977 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF22 HGNC ENSG00000179057 132 0 0 130 45 25.7143 IFITM5 0 genome.wustl.edu 37 11 299343 299343 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 299343 299343 A G SNP IFITM5 ENST00000382614 human ensembl 74_37 -1 known missense c.148 p.C50R 1.000 pfam_CD225/Dispanin_fam pfam_CD225/Dispanin_fam - no_errors IFITM5 HGNC ENSG00000206013 12 0 0 12 6 33.3333 CARS-AS1 0 genome.wustl.edu 37 11 3050703 3050703 + RNA SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 3050703 3050703 C T SNP CARS-AS1 ENST00000499962 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CARS-AS1 HGNC ENSG00000247473 42 0 0 35 14 28.5714 OSBPL5 0 genome.wustl.edu 37 11 3122896 3122896 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 3122896 3122896 C T SNP OSBPL5 ENST00000263650 human ensembl 74_37 -1 known missense c.1459 p.V487I 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL5 HGNC ENSG00000021762 84 0 0 58 11 15.942 MRGPRE 0 genome.wustl.edu 37 11 3249856 3249856 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 3249856 3249856 G A SNP MRGPRE ENST00000389832 human ensembl 74_37 -1 known silent c.174 p.F58 0.703 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRE HGNC ENSG00000184350 111 0 0 82 44 34.9206 QSER1 0 genome.wustl.edu 37 11 32955500 32955500 + Missense_Mutation SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 32955500 32955500 T C SNP QSER1 ENST00000399302 human ensembl 74_37 +1 known missense c.2309 p.M770T 1.000 NULL NULL - no_errors QSER1 HGNC ENSG00000060749 123 0 0 123 14 10.219 ART1 0 genome.wustl.edu 37 11 3681308 3681308 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 3681308 3681308 C T SNP ART1 ENST00000250693 human ensembl 74_37 +1 known missense c.559 p.R187W 1.000 pfam_ART pfam_ART,prints_ART - no_errors ART1 HGNC ENSG00000129744 30 0 0 19 11 36.6667 NUP98 0 genome.wustl.edu 37 11 3697574 3697574 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 3697574 3697574 C T SNP NUP98 ENST00000324932 human ensembl 74_37 -1 known missense c.5218 p.V1740M 1.000 NULL pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59 - no_errors NUP98 HGNC ENSG00000110713 81 0 0 51 22 30.137 ACCSL 0 genome.wustl.edu 37 11 44073203 44073203 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 44073203 44073203 G A SNP ACCSL ENST00000378832 human ensembl 74_37 +1 known missense c.706 p.V236M 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors ACCSL HGNC ENSG00000205126 288 1 0.346021 197 61 23.6434 ACCS 0 genome.wustl.edu 37 11 44098861 44098861 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 44098861 44098861 G A SNP ACCS ENST00000263776 human ensembl 74_37 +1 known missense c.589 p.A197T 0.998 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors ACCS HGNC ENSG00000110455 222 2 0.892857 166 59 26.2222 CHST1 0 genome.wustl.edu 37 11 45671407 45671407 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 45671407 45671407 G A SNP CHST1 ENST00000308064 human ensembl 74_37 -1 known missense c.1067 p.T356M 0.726 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST1 HGNC ENSG00000175264 101 0 0 85 22 20.5607 AMBRA1 0 genome.wustl.edu 37 11 46439470 46439470 + Nonsense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 46439470 46439470 G A SNP AMBRA1 ENST00000458649 human ensembl 74_37 -1 known nonsense c.3109 p.R1037* 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 170 1 0.584795 121 57 32.0225 ZNF408 0 genome.wustl.edu 37 11 46726189 46726189 + Missense_Mutation SNP T T A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 46726189 46726189 T A SNP ZNF408 ENST00000311764 human ensembl 74_37 +1 known missense c.939 p.S313R 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF408 HGNC ENSG00000175213 88 0 0 74 31 29.5238 OR51F2 0 genome.wustl.edu 37 11 4842865 4842865 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 4842865 4842865 G T SNP OR51F2 ENST00000322110 human ensembl 74_37 +1 known missense c.250 p.D84Y 1.000 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 OR51F2 HGNC ENSG00000176925 258 0 0 206 66 24.2647 LOC440040 0 genome.wustl.edu 37 11 49830090 49830090 + RNA SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 49830090 49830090 A G SNP LOC440040 ENST00000527477 human ensembl 74_37 +1 known rna NULL NULL 0.057 - - - no_errors RP11-707M1.1 Clone_based_vega_gene ENSG00000205035 32 0 0 29 6 17.1429 LOC440040 0 genome.wustl.edu 37 11 49830105 49830105 + RNA SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 49830105 49830105 G A SNP LOC440040 ENST00000527477 human ensembl 74_37 +1 known rna NULL NULL 0.062 - - - no_errors RP11-707M1.1 Clone_based_vega_gene ENSG00000205035 35 0 0 28 6 17.6471 TRIM48 0 genome.wustl.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 55035844 55035844 T C SNP TRIM48 ENST00000417545 human ensembl 74_37 +1 known missense c.574 p.Y192H 0.183 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM48 HGNC ENSG00000150244 116 1 0.854701 117 16 12.0301 OR8J3 0 genome.wustl.edu 37 11 55904812 55904812 + Missense_Mutation SNP T T A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 55904812 55904812 T A SNP OR8J3 ENST00000301529 human ensembl 74_37 -1 known missense c.383 p.N128I 0.296 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8J3 HGNC ENSG00000167822 144 0 0 118 13 9.92366 OR9I1 0 genome.wustl.edu 37 11 57885993 57885993 + Silent SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 57885993 57885993 G T SNP OR9I1 ENST00000302610 human ensembl 74_37 -1 known silent c.924 p.L308 0.295 NULL pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR9I1 HGNC ENSG00000172377 249 0 0 199 11 5.2381 PGA5 0 genome.wustl.edu 37 11 61017238 61017238 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 61017238 61017238 G A SNP PGA5 ENST00000312403 human ensembl 74_37 +1 known missense c.871 p.A291T 0.000 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors PGA5 HGNC ENSG00000256713 343 0 0 287 44 13.2931 RPLP0P2 0 genome.wustl.edu 37 11 61404831 61404831 + RNA SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 61404831 61404831 C T SNP RPLP0P2 ENST00000496593 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RPLP0P2 HGNC ENSG00000243742 48 0 0 36 18 33.3333 BEST1 0 genome.wustl.edu 37 11 61730441 61730441 + Silent SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 61730441 61730441 C A SNP BEST1 ENST00000449131 human ensembl 74_37 +1 known silent c.1635 p.P545 0.000 NULL pfam_Bestrophin/UPF0187 - no_errors BEST1 HGNC ENSG00000167995 32 0 0 21 13 38.2353 INCENP 0 genome.wustl.edu 37 11 61897832 61897832 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 61897832 61897832 G A SNP INCENP ENST00000394818 human ensembl 74_37 +1 known missense c.833 p.R278Q 0.000 NULL pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd - no_errors INCENP HGNC ENSG00000149503 118 0 0 86 32 27.1186 MTA2 0 genome.wustl.edu 37 11 62361349 62361349 + Nonstop_Mutation SNP A A T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 62361349 62361349 A T SNP MTA2 ENST00000278823 human ensembl 74_37 -1 known nonstop c.2005 p.*669R 1.000 NULL pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors MTA2 HGNC ENSG00000149480 47 0 0 44 8 15.3846 NXF1 0 genome.wustl.edu 37 11 62569485 62569485 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 62569485 62569485 C T SNP NXF1 ENST00000294172 human ensembl 74_37 -1 known missense c.487 p.V163I 1.000 pfam_Tap_RNA-bd pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF1 HGNC ENSG00000162231 155 0 0 128 39 23.3533 APBB1 0 genome.wustl.edu 37 11 6432180 6432180 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 6432180 6432180 C T SNP APBB1 ENST00000389906 human ensembl 74_37 -1 known missense c.398 p.R133Q 0.994 NULL pfam_PTB/PI_dom,pfam_WW_dom,pfam_PTB,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom - no_errors APBB1 HGNC ENSG00000166313 169 0 0 152 64 29.6296 SF1 0 genome.wustl.edu 37 11 64534407 64534407 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 64534407 64534407 C T SNP SF1 ENST00000377390 human ensembl 74_37 -1 known missense c.1547 p.S516N 1.000 NULL pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1 - no_errors SF1 HGNC ENSG00000168066 153 0 0 115 46 28.5714 CDC42BPG 0 genome.wustl.edu 37 11 64595039 64595039 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 64595039 64595039 G A SNP CDC42BPG ENST00000342711 human ensembl 74_37 -1 known silent c.4110 p.T1370 0.832 smart_Citron 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 22 0 0 18 6 25 CDC42BPG 0 genome.wustl.edu 37 11 64597712 64597712 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 64597712 64597712 C T SNP CDC42BPG ENST00000342711 human ensembl 74_37 -1 known silent c.3321 p.A1107 0.983 pfam_Citron,smart_Citron 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 20 0 0 13 5 27.7778 POLA2 0 genome.wustl.edu 37 11 65046287 65046287 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 65046287 65046287 C T SNP POLA2 ENST00000265465 human ensembl 74_37 +1 known missense c.548 p.S183F 0.957 pfam_Pol_alpha_B_N,pirsf_DNA_pol_alpha_bsu pfam_Pol_alpha_B_N,pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_alpha_bsu - no_errors POLA2 HGNC ENSG00000014138 177 0 0 131 51 28.022 CATSPER1 0 genome.wustl.edu 37 11 65792903 65792903 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 65792903 65792903 G A SNP CATSPER1 ENST00000312106 human ensembl 74_37 -1 known silent c.948 p.G316 0.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER1 HGNC ENSG00000175294 70 0 0 45 8 15.0943 CCS 0 genome.wustl.edu 37 11 66367082 66367082 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 66367082 66367082 G A SNP CCS ENST00000533244 human ensembl 74_37 +1 known missense c.403 p.G135R 0.999 pfam_SOD_Cu_Zn_dom,superfamily_SOD_Cu_Zn_dom,prints_SOD_Cu_Zn_dom pfam_SOD_Cu_Zn_dom,pfam_HeavyMe-assoc_HMA,superfamily_SOD_Cu_Zn_dom,superfamily_HeavyMe-assoc_HMA,prints_SOD_Cu_Zn_dom,pfscan_HeavyMe-assoc_HMA - no_errors CCS HGNC ENSG00000173992 40 0 0 27 15 35.7143 RBM4 0 genome.wustl.edu 37 11 66411375 66411375 + Silent SNP A A T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 66411375 66411375 A T SNP RBM4 ENST00000310092 human ensembl 74_37 +1 known silent c.867 p.A289 0.747 NULL pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors RBM4 HGNC ENSG00000173933 66 0 0 45 17 27.4194 LRFN4 0 genome.wustl.edu 37 11 66627389 66627389 + Missense_Mutation SNP C C G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 66627389 66627389 C G SNP LRFN4 ENST00000309602 human ensembl 74_37 +1 known missense c.1631 p.A544G 0.999 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN4 HGNC ENSG00000173621 39 0 0 36 13 26.5306 SHANK2 0 genome.wustl.edu 37 11 70338504 70338504 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 70338504 70338504 G A SNP SHANK2 ENST00000338508 human ensembl 74_37 -1 known missense c.2378 p.P793L 0.957 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 65 0 0 50 18 26.4706 NLRP14 0 genome.wustl.edu 37 11 7064936 7064936 + Missense_Mutation SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 7064936 7064936 T C SNP NLRP14 ENST00000299481 human ensembl 74_37 +1 known missense c.1679 p.L560S 0.002 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP14 HGNC ENSG00000158077 78 0 0 51 22 30.137 B3GNT6 0 genome.wustl.edu 37 11 76750655 76750655 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 76750655 76750655 C T SNP B3GNT6 ENST00000533140 human ensembl 74_37 +1 known silent c.60 p.G20 0.068 NULL pfam_Glyco_trans_31 - no_errors B3GNT6 HGNC ENSG00000198488 151 1 0.657895 100 44 30.5556 RSF1 0 genome.wustl.edu 37 11 77388037 77388037 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 77388037 77388037 G A SNP RSF1 ENST00000308488 human ensembl 74_37 -1 known silent c.3141 p.G1047 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors RSF1 HGNC ENSG00000048649 97 0 0 73 26 26.2626 RIC3 0 genome.wustl.edu 37 11 8161631 8161631 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 8161631 8161631 C A SNP RIC3 ENST00000309737 human ensembl 74_37 -1 known missense c.234 p.K78N 0.812 NULL NULL - no_errors RIC3 HGNC ENSG00000166405 92 0 0 74 22 22.9167 PRCP 0 genome.wustl.edu 37 11 82549488 82549488 + Silent SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 82549488 82549488 G T SNP PRCP ENST00000393399 human ensembl 74_37 -1 known silent c.1278 p.S426 0.028 pfam_Peptidase_S28 pfam_Peptidase_S28 - no_errors PRCP HGNC ENSG00000137509 69 0 0 60 11 15.493 C11orf82 0 genome.wustl.edu 37 11 82643360 82643360 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 82643360 82643360 G A SNP C11orf82 ENST00000430323 human ensembl 74_37 +1 known missense c.980 p.S327N 0.006 NULL pfam_Rep_factor-A_C,superfamily_NA-bd_OB-fold - no_errors C11orf82 HGNC ENSG00000165490 82 0 0 63 35 35.7143 CHORDC1 0 genome.wustl.edu 37 11 89939416 89939416 + Nonsense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 89939416 89939416 C A SNP CHORDC1 ENST00000320585 human ensembl 74_37 -1 known nonsense c.517 p.E173* 1.000 pfam_CHORD pfam_CHORD,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors CHORDC1 HGNC ENSG00000110172 100 0 0 57 27 32.1429 CHORDC1 0 genome.wustl.edu 37 11 89951311 89951311 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 89951311 89951311 C T SNP CHORDC1 ENST00000320585 human ensembl 74_37 -1 known missense c.106 p.A36T 1.000 pfam_CHORD pfam_CHORD,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors CHORDC1 HGNC ENSG00000110172 26 0 0 20 3 13.0435 CEP57 0 genome.wustl.edu 37 11 95552045 95552045 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 95552045 95552045 C T SNP CEP57 ENST00000325542 human ensembl 74_37 +1 known missense c.676 p.R226C 1.000 pfam_Cep57_MT-bd_dom pfam_Cep57_MT-bd_dom - no_errors CEP57 HGNC ENSG00000166037 40 0 0 48 5 9.43396 SPIC 0 genome.wustl.edu 37 12 101876581 101876581 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 101876581 101876581 G A SNP SPIC ENST00000299272 human ensembl 74_37 +1 known silent c.222 p.A74 0.009 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors SPIC HGNC ENSG00000166211 274 0 0 198 73 26.9373 PAH 0 genome.wustl.edu 37 12 103271264 103271264 + Silent SNP T T G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 103271264 103271264 T G SNP PAH ENST00000553106 human ensembl 74_37 -1 known silent c.417 p.G139 1.000 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Phe-4-hydroxylase_tetra pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Phe-4-hydroxylase_tetra - no_errors PAH HGNC ENSG00000171759 134 0 0 78 28 26.4151 FOXN4 0 genome.wustl.edu 37 12 109717585 109717585 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 109717585 109717585 G A SNP FOXN4 ENST00000299162 human ensembl 74_37 -1 known missense c.1445 p.T482M 0.999 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN4 HGNC ENSG00000139445 15 0 0 15 5 25 TAS2R13 0 genome.wustl.edu 37 12 11061808 11061808 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 11061808 11061808 G A SNP TAS2R13 ENST00000390677 human ensembl 74_37 -1 known silent c.90 p.I30 0.024 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R13 HGNC ENSG00000212128 47 0 0 31 6 16.2162 MED13L 0 genome.wustl.edu 37 12 116404042 116404042 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 116404042 116404042 C T SNP MED13L ENST00000281928 human ensembl 74_37 -1 known missense c.6232 p.G2078S 1.000 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 106 0 0 63 25 28.4091 VSIG10 0 genome.wustl.edu 37 12 118517177 118517177 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 118517177 118517177 G A SNP VSIG10 ENST00000359236 human ensembl 74_37 -1 known missense c.899 p.S300L 0.000 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors VSIG10 HGNC ENSG00000176834 62 0 0 47 20 29.8507 SRRM4 0 genome.wustl.edu 37 12 119563203 119563203 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 119563203 119563203 G A SNP SRRM4 ENST00000267260 human ensembl 74_37 +1 known missense c.533 p.R178Q 1.000 NULL NULL - no_errors SRRM4 HGNC ENSG00000139767 54 0 0 52 11 17.4603 CCDC60 0 genome.wustl.edu 37 12 119968783 119968783 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 119968783 119968783 G A SNP CCDC60 ENST00000327554 human ensembl 74_37 +1 known missense c.1466 p.R489Q 0.997 NULL NULL - no_errors CCDC60 HGNC ENSG00000183273 110 0 0 73 34 31.7757 CCDC64 0 genome.wustl.edu 37 12 120518704 120518704 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 120518704 120518704 G A SNP CCDC64 ENST00000257583 human ensembl 74_37 +1 known missense c.413 p.S138N 1.000 NULL NULL - no_errors CCDC64 HGNC ENSG00000135127 61 0 0 37 26 41.2698 OASL 0 genome.wustl.edu 37 12 121476748 121476748 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 121476748 121476748 G A SNP OASL ENST00000257570 human ensembl 74_37 -1 known silent c.27 p.S9 0.000 NULL pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_2-5-oligoadenylate_synth_N,pfscan_Ubiquitin_supergroup - no_errors OASL HGNC ENSG00000135114 37 0 0 25 7 21.875 KDM2B 0 genome.wustl.edu 37 12 121891034 121891034 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 121891034 121891034 G A SNP KDM2B ENST00000377071 human ensembl 74_37 -1 known silent c.1848 p.C616 1.000 pfam_Znf_CXXC,pfscan_Znf_CXXC pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2B HGNC ENSG00000089094 22 0 0 20 8 28.5714 MORN3 0 genome.wustl.edu 37 12 122091114 122091114 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 122091114 122091114 G A SNP MORN3 ENST00000355329 human ensembl 74_37 -1 known missense c.515 p.A172V 0.000 pfam_MORN,smart_MORN pfam_MORN,smart_MORN - no_errors MORN3 HGNC ENSG00000139714 65 0 0 44 20 31.25 BCL2L14 0 genome.wustl.edu 37 12 12247740 12247740 + Missense_Mutation SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 12247740 12247740 T C SNP BCL2L14 ENST00000308721 human ensembl 74_37 +1 known missense c.821 p.L274P 1.000 pfscan_Bcl2-like pfscan_Bcl2-like - no_errors BCL2L14 HGNC ENSG00000121380 113 0 0 86 43 33.3333 CCDC62 0 genome.wustl.edu 37 12 123285827 123285827 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 123285827 123285827 G T SNP CCDC62 ENST00000253079 human ensembl 74_37 +1 known missense c.1134 p.E378D 0.351 NULL superfamily_Prefoldin - no_errors CCDC62 HGNC ENSG00000130783 32 0 0 41 6 12.766 DDX55 0 genome.wustl.edu 37 12 124103353 124103353 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 124103353 124103353 G A SNP DDX55 ENST00000238146 human ensembl 74_37 +1 known silent c.1302 p.K434 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX55 HGNC ENSG00000111364 127 0 0 115 7 5.7377 DNAH10 0 genome.wustl.edu 37 12 124298123 124298123 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 124298123 124298123 C T SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.3203 p.S1068L 0.996 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 40 0 0 43 16 27.1186 TMEM132D 0 genome.wustl.edu 37 12 130184678 130184678 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 130184678 130184678 G A SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known silent c.645 p.S215 0.000 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 52 0 0 39 11 22 RIMBP2 0 genome.wustl.edu 37 12 130884240 130884240 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 130884240 130884240 C T SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known missense c.3116 p.R1039H 0.985 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 110 1 0.900901 88 30 25.4237 PLEKHA5 0 genome.wustl.edu 37 12 19522684 19522684 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 19522684 19522684 C T SNP PLEKHA5 ENST00000317589 human ensembl 74_37 +1 known missense c.3503 p.P1168L 0.991 NULL pfam_Pleckstrin_homology,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA5 HGNC ENSG00000052126 64 0 0 30 13 30.2326 CACNA2D4 0 genome.wustl.edu 37 12 2024025 2024025 + Nonsense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 2024025 2024025 G A SNP CACNA2D4 ENST00000382722 human ensembl 74_37 -1 known nonsense c.304 p.Q102* 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D4 HGNC ENSG00000151062 58 0 0 69 15 17.8571 CMAS 0 genome.wustl.edu 37 12 22213859 22213859 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 22213859 22213859 A G SNP CMAS ENST00000229329 human ensembl 74_37 +1 known missense c.787 p.R263G 0.998 pfam_Cytidylyl_trans pfam_Cytidylyl_trans,superfamily_HAD-like_dom - no_errors CMAS HGNC ENSG00000111726 118 0 0 76 38 33.3333 REP15 0 genome.wustl.edu 37 12 27850003 27850003 + Nonsense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 27850003 27850003 G T SNP REP15 ENST00000310791 human ensembl 74_37 +1 known nonsense c.508 p.G170* 0.512 NULL NULL - no_errors REP15 HGNC ENSG00000174236 65 0 0 69 9 11.5385 NRIP2 0 genome.wustl.edu 37 12 2943970 2943970 + Silent SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 2943970 2943970 A G SNP NRIP2 ENST00000337508 human ensembl 74_37 -1 known silent c.180 p.D60 0.997 NULL pfam_Peptidase_aspartic_DDI1-type,superfamily_Peptidase_aspartic_dom - no_errors NRIP2 HGNC ENSG00000053702 209 0 0 161 60 27.1493 FAR2 0 genome.wustl.edu 37 12 29462162 29462162 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 29462162 29462162 C T SNP FAR2 ENST00000182377 human ensembl 74_37 +1 known missense c.767 p.A256V 1.000 pfam_Male_sterile_NAD-bd pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like - no_errors FAR2 HGNC ENSG00000064763 306 0 0 225 73 24.4966 IPO8 0 genome.wustl.edu 37 12 30783861 30783861 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 30783861 30783861 C T SNP IPO8 ENST00000256079 human ensembl 74_37 -1 known missense c.3047 p.G1016D 1.000 NULL pfam_Importin-beta_N,pfam_Cse1,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO8 HGNC ENSG00000133704 85 0 0 71 4 5.33333 PKP2 0 genome.wustl.edu 37 12 33031261 33031261 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 33031261 33031261 G A SNP PKP2 ENST00000070846 human ensembl 74_37 -1 known missense c.553 p.R185W 0.014 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP2 HGNC ENSG00000057294 92 0 0 96 6 5.88235 DYRK4 0 genome.wustl.edu 37 12 4722772 4722772 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 4722772 4722772 C T SNP DYRK4 ENST00000010132 human ensembl 74_37 +1 known silent c.1416 p.H472 0.000 NULL 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 DYRK4 HGNC ENSG00000010219 57 0 0 38 25 39.6825 PCED1B 0 genome.wustl.edu 37 12 47629304 47629304 + Missense_Mutation SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 47629304 47629304 T C SNP PCED1B ENST00000432328 human ensembl 74_37 +1 known missense c.458 p.V153A 0.996 NULL NULL - no_errors PCED1B HGNC ENSG00000179715 93 0 0 74 18 19.5652 COL2A1 0 genome.wustl.edu 37 12 48380149 48380149 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 48380149 48380149 G A SNP COL2A1 ENST00000380518 human ensembl 74_37 -1 known silent c.1497 p.G499 0.950 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC ENSG00000139219 11 0 0 8 4 33.3333 H1FNT 0 genome.wustl.edu 37 12 48723477 48723477 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 48723477 48723477 G A SNP H1FNT ENST00000335017 human ensembl 74_37 +1 known missense c.403 p.A135T 0.000 NULL NULL - no_errors H1FNT HGNC ENSG00000187166 50 0 0 37 21 36.2069 TROAP 0 genome.wustl.edu 37 12 49723227 49723227 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 49723227 49723227 C T SNP TROAP ENST00000257909 human ensembl 74_37 +1 known missense c.1154 p.A385V 1.000 NULL NULL - no_errors TROAP HGNC ENSG00000135451 61 0 0 39 9 18.75 KCNH3 0 genome.wustl.edu 37 12 49938006 49938006 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 49938006 49938006 C T SNP KCNH3 ENST00000257981 human ensembl 74_37 +1 known missense c.1030 p.R344C 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH3 HGNC ENSG00000135519 17 0 0 5 7 58.3333 KRT84 0 genome.wustl.edu 37 12 52774246 52774246 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 52774246 52774246 G A SNP KRT84 ENST00000257951 human ensembl 74_37 -1 known missense c.1325 p.A442V 1.000 pfam_IF,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT84 HGNC ENSG00000161849 89 0 0 78 19 19.5876 ITGB7 0 genome.wustl.edu 37 12 53585371 53585371 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 53585371 53585371 C T SNP ITGB7 ENST00000267082 human ensembl 74_37 -1 known missense c.2366 p.R789H 0.002 pirsf_Integrin_bsu,pfam_Integrin_bsu_cyt_dom pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Plexin-like_fold,superfamily_Integrin_bsu_tail,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB7 HGNC ENSG00000139626 107 0 0 97 23 19.1667 OR10P1 0 genome.wustl.edu 37 12 56031570 56031570 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 56031570 56031570 A G SNP OR10P1 ENST00000309675 human ensembl 74_37 +1 known missense c.895 p.R299G 0.003 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10P1 HGNC ENSG00000175398 41 0 0 31 15 32.6087 ITGA7 0 genome.wustl.edu 37 12 56088256 56088256 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 56088256 56088256 C T SNP ITGA7 ENST00000555728 human ensembl 74_37 -1 known silent c.2460 p.T820 0.505 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC ENSG00000135424 51 0 0 31 19 38 ANKRD52 0 genome.wustl.edu 37 12 56639211 56639211 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 56639211 56639211 G A SNP ANKRD52 ENST00000267116 human ensembl 74_37 -1 known missense c.2354 p.A785V 0.997 superfamily_Ankyrin_rpt-contain_dom,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,prints_Ankyrin_rpt - no_errors ANKRD52 HGNC ENSG00000139645 26 0 0 22 11 33.3333 PAN2 0 genome.wustl.edu 37 12 56720627 56720627 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 56720627 56720627 C T SNP PAN2 ENST00000425394 human ensembl 74_37 -1 known missense c.1036 p.A346T 1.000 superfamily_WD40_repeat_dom pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19/C67,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19/C67 - no_errors PAN2 HGNC ENSG00000135473 131 0 0 113 26 18.705 CTDSP2 0 genome.wustl.edu 37 12 58240195 58240195 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 58240195 58240195 G A SNP CTDSP2 ENST00000398073 human ensembl 74_37 -1 known silent c.24 p.T8 1.000 NULL pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase - no_errors CTDSP2 HGNC ENSG00000175215 17 0 0 16 5 23.8095 AVPR1A 0 genome.wustl.edu 37 12 63543831 63543831 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 63543831 63543831 C T SNP AVPR1A ENST00000299178 human ensembl 74_37 -1 known silent c.786 p.A262 0.004 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_DUF1856,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_V1A_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR1A HGNC ENSG00000166148 156 0 0 113 33 22.6027 GNS 0 genome.wustl.edu 37 12 65130789 65130789 + Missense_Mutation SNP T T G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 65130789 65130789 T G SNP GNS ENST00000258145 human ensembl 74_37 -1 known missense c.1093 p.S365R 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase - no_errors GNS HGNC ENSG00000135677 74 0 0 53 28 34.5679 CHD4 0 genome.wustl.edu 37 12 6686958 6686958 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 6686958 6686958 C A SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known missense c.5438 p.R1813M 1.000 pfam_CHD_C2 pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 104 0 0 61 35 36.4583 USP5 0 genome.wustl.edu 37 12 6968673 6968673 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 6968673 6968673 G A SNP USP5 ENST00000229268 human ensembl 74_37 +1 known silent c.1098 p.P366 0.000 pfam_Peptidase_C19/C67,pirsf_Ubiquitinyl_hydrolase,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP5 HGNC ENSG00000111667 87 0 0 62 22 26.1905 A2M 0 genome.wustl.edu 37 12 9251353 9251353 + Splice_Site SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 9251353 9251353 C A SNP A2M ENST00000318602 human ensembl 74_37 -1 known splice_site c.1702-1 e15-1 1.000 - - - no_errors A2M HGNC ENSG00000175899 30 0 0 20 14 41.1765 ARGLU1 0 genome.wustl.edu 37 13 107211856 107211856 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 13 107211856 107211856 C T SNP ARGLU1 ENST00000400198 human ensembl 74_37 -1 known missense c.497 p.R166H 1.000 NULL NULL - no_errors ARGLU1 HGNC ENSG00000134884 161 0 0 107 47 30.5195 F7 0 genome.wustl.edu 37 13 113771897 113771897 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 13 113771897 113771897 G A SNP F7 ENST00000375581 human ensembl 74_37 +1 known silent c.792 p.L264 0.000 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_Peptidase_S1A_nudel,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1 - no_errors F7 HGNC ENSG00000057593 182 0 0 114 28 19.7183 ADPRHL1 0 genome.wustl.edu 37 13 114107633 114107633 + Silent SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 13 114107633 114107633 G T SNP ADPRHL1 ENST00000375418 human ensembl 74_37 -1 known silent c.120 p.S40 0.000 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro - no_errors ADPRHL1 HGNC ENSG00000153531 92 0 0 109 6 5.21739 ATP12A 0 genome.wustl.edu 37 13 25264573 25264573 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 13 25264573 25264573 C A SNP ATP12A ENST00000218548 human ensembl 74_37 +1 known missense c.644 p.P215H 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP12A HGNC ENSG00000075673 134 0 0 96 33 25.5814 NUFIP1 0 genome.wustl.edu 37 13 45533698 45533698 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 13 45533698 45533698 C A SNP NUFIP1 ENST00000379161 human ensembl 74_37 -1 known missense c.839 p.G280V 1.000 NULL pfam_NUFIP1_cons_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors NUFIP1 HGNC ENSG00000083635 188 0 0 141 47 25 SPERT 0 genome.wustl.edu 37 13 46288456 46288456 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 13 46288456 46288456 C T SNP SPERT ENST00000310521 human ensembl 74_37 +1 known silent c.1296 p.Y432 0.893 NULL NULL - no_errors SPERT HGNC ENSG00000174015 26 0 0 31 10 24.3902 ATP7B 0 genome.wustl.edu 37 13 52515271 52515271 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 13 52515271 52515271 C T SNP ATP7B ENST00000242839 human ensembl 74_37 -1 known missense c.3502 p.A1168T 0.993 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ENSG00000123191 98 0 0 94 27 22.314 PCDH8 0 genome.wustl.edu 37 13 53419757 53419757 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 13 53419757 53419757 G A SNP PCDH8 ENST00000377942 human ensembl 74_37 -1 known missense c.2642 p.A881V 0.841 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH8 HGNC ENSG00000136099 44 0 0 44 15 25.4237 DIS3 0 genome.wustl.edu 37 13 73335641 73335641 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 13 73335641 73335641 C T SNP DIS3 ENST00000377767 human ensembl 74_37 -1 known missense c.2530 p.G844R 1.000 NULL smart_PIN_dom - no_errors DIS3 HGNC ENSG00000083520 71 0 0 55 26 32.0988 COMMD6 0 genome.wustl.edu 37 13 76100599 76100599 + RNA SNP A A T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 13 76100599 76100599 A T SNP COMMD6 ENST00000460675 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors COMMD6 HGNC ENSG00000188243 22 0 0 12 10 45.4545 CLN5 0 genome.wustl.edu 37 13 77570161 77570161 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 13 77570161 77570161 C T SNP CLN5 ENST00000377453 human ensembl 74_37 +1 known missense c.611 p.A204V 1.000 NULL NULL - no_errors CLN5 HGNC ENSG00000102805 140 0 0 117 13 10 IPO5 0 genome.wustl.edu 37 13 98641394 98641394 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 13 98641394 98641394 G T SNP IPO5 ENST00000261574 human ensembl 74_37 +1 known missense c.497 p.R166L 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N - no_errors IPO5 HGNC ENSG00000065150 66 0 0 53 6 10.1695 DEGS2 0 genome.wustl.edu 37 14 100615695 100615695 + Silent SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 14 100615695 100615695 G T SNP DEGS2 ENST00000305631 human ensembl 74_37 -1 known silent c.435 p.P145 0.998 pfam_Fatty_acid_desaturase-1,pirsf_Sphingolipid_d4-desaturase pfam_Fatty_acid_desaturase-1,pfam_Sphingolipid_d4-desaturase_N,pirsf_Sphingolipid_d4-desaturase - no_errors DEGS2 HGNC ENSG00000168350 27 0 0 29 12 29.2683 DIO3OS 0 genome.wustl.edu 37 14 102026711 102026711 + RNA SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 14 102026711 102026711 C T SNP DIO3OS ENST00000408206 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DIO3OS HGNC ENSG00000258498 8 0 0 6 4 40 HSP90AA1 0 genome.wustl.edu 37 14 102551160 102551160 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 14 102551160 102551160 A G SNP HSP90AA1 ENST00000334701 human ensembl 74_37 -1 known missense c.1205 p.I402T 1.000 pirsf_Hsp90_fam,pfam_Hsp90_fam pirsf_Hsp90_fam,pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N - no_errors HSP90AA1 HGNC ENSG00000080824 47 0 0 50 3 5.66038 AHNAK2 0 genome.wustl.edu 37 14 105418426 105418426 + Missense_Mutation SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 14 105418426 105418426 T C SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.3362 p.D1121G 0.001 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 377 0 0 259 104 28.6501 OR4K5 0 genome.wustl.edu 37 14 20388906 20388906 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 14 20388906 20388906 C T SNP OR4K5 ENST00000315915 human ensembl 74_37 +1 known silent c.141 p.L47 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K5 HGNC ENSG00000176281 249 0 0 220 34 13.3858 ARHGEF40 0 genome.wustl.edu 37 14 21549815 21549815 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 14 21549815 21549815 G A SNP ARHGEF40 ENST00000298694 human ensembl 74_37 +1 known missense c.2788 p.G930S 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF40 HGNC ENSG00000165801 26 0 0 17 8 32 SUPT16H 0 genome.wustl.edu 37 14 21826587 21826587 + Splice_Site SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 14 21826587 21826587 C A SNP SUPT16H ENST00000216297 human ensembl 74_37 -1 known splice_site c.2302-1 e20-1 1.000 - - - no_errors SUPT16H HGNC ENSG00000092201 45 0 0 26 14 35 SUPT16H 0 genome.wustl.edu 37 14 21827659 21827659 + Missense_Mutation SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 14 21827659 21827659 T C SNP SUPT16H ENST00000216297 human ensembl 74_37 -1 known missense c.2285 p.D762G 1.000 NULL pfam_FACT_Spt16p,pfam_Pept_M24_structural-domain,pfam_DUF1747,superfamily_Pept_M24_structural-domain - no_errors SUPT16H HGNC ENSG00000092201 103 0 0 87 19 17.9245 CHD8 0 genome.wustl.edu 37 14 21899098 21899098 + Silent SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 14 21899098 21899098 A G SNP CHD8 ENST00000399982 human ensembl 74_37 -1 known silent c.705 p.V235 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 43 0 0 28 2 6.66667 OXA1L 0 genome.wustl.edu 37 14 23236581 23236581 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 14 23236581 23236581 G T SNP OXA1L ENST00000285848 human ensembl 74_37 +1 known missense c.368 p.S123I 1.000 NULL pfam_Membrane_insert_OXA1/ALB3/YidC,tigrfam_Membr_insert_YidC/Oxa1_C - no_errors OXA1L HGNC ENSG00000155463 80 0 0 53 24 31.1688 CDH24 0 genome.wustl.edu 37 14 23518350 23518350 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 14 23518350 23518350 G A SNP CDH24 ENST00000267383 human ensembl 74_37 -1 known missense c.1846 p.R616C 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH24 HGNC ENSG00000139880 16 0 0 7 5 41.6667 MYH7 0 genome.wustl.edu 37 14 23902765 23902765 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 14 23902765 23902765 G A SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known silent c.177 p.V59 1.000 pfam_Myosin_N,superfamily_P-loop_NTPase pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 123 0 0 89 44 33.0827 DCAF11 0 genome.wustl.edu 37 14 24588791 24588791 + Missense_Mutation SNP T T G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 14 24588791 24588791 T G SNP DCAF11 ENST00000446197 human ensembl 74_37 +1 known missense c.872 p.V291G 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors DCAF11 HGNC ENSG00000100897 199 0 0 156 61 28.1106 HECTD1 0 genome.wustl.edu 37 14 31598602 31598602 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 14 31598602 31598602 G A SNP HECTD1 ENST00000399332 human ensembl 74_37 -1 known silent c.3975 p.G1325 1.000 pfam_Mib_Herc2 pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT - no_errors HECTD1 HGNC ENSG00000092148 96 0 0 118 16 11.9403 PRPF39 0 genome.wustl.edu 37 14 45578921 45578921 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 14 45578921 45578921 G A SNP PRPF39 ENST00000355765 human ensembl 74_37 +1 known missense c.1114 p.V372I 1.000 smart_HAT smart_HAT - no_errors PRPF39 HGNC ENSG00000185246 29 0 0 18 10 35.7143 SOS2 0 genome.wustl.edu 37 14 50586993 50586993 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 14 50586993 50586993 C A SNP SOS2 ENST00000216373 human ensembl 74_37 -1 known missense c.3489 p.K1163N 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS2 HGNC ENSG00000100485 43 0 0 37 7 15.9091 DDHD1 0 genome.wustl.edu 37 14 53558636 53558636 + Missense_Mutation SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 14 53558636 53558636 T C SNP DDHD1 ENST00000323669 human ensembl 74_37 -1 known missense c.1156 p.T386A 1.000 NULL pfam_DDHD,pfscan_DDHD - no_errors DDHD1 HGNC ENSG00000100523 80 0 0 52 27 34.1772 FUT8 0 genome.wustl.edu 37 14 66200014 66200014 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 14 66200014 66200014 A G SNP FUT8 ENST00000360689 human ensembl 74_37 +1 known missense c.1325 p.Y442C 1.000 pirsf_Alpha1_6FUT_euk superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk - no_errors FUT8 HGNC ENSG00000033170 90 0 0 57 33 36.6667 PCNX 0 genome.wustl.edu 37 14 71445182 71445182 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 14 71445182 71445182 C T SNP PCNX ENST00000304743 human ensembl 74_37 +1 known missense c.2128 p.P710S 1.000 NULL pfam_Pecanex - no_errors PCNX HGNC ENSG00000100731 96 0 0 52 19 26.7606 HEATR4 0 genome.wustl.edu 37 14 73973210 73973210 + Silent SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 14 73973210 73973210 G T SNP HEATR4 ENST00000334988 human ensembl 74_37 -1 known silent c.1947 p.A649 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors HEATR4 HGNC ENSG00000187105 104 0 0 90 36 28.5714 ATG2B 0 genome.wustl.edu 37 14 96752149 96752149 + Missense_Mutation SNP T T A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 14 96752149 96752149 T A SNP ATG2B ENST00000359933 human ensembl 74_37 -1 known missense c.6180 p.Q2060H 0.810 pfam_Autophagy-rel_C pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 82 0 0 74 4 5.12821 DNM1P47 0 genome.wustl.edu 37 15 102296140 102296140 + RNA SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 15 102296140 102296140 C T SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors DNM1P47 HGNC ENSG00000259660 14 0 0 13 3 18.75 OCA2 0 genome.wustl.edu 37 15 28273032 28273032 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 15 28273032 28273032 C T SNP OCA2 ENST00000354638 human ensembl 74_37 -1 known missense c.500 p.R167H 0.000 NULL pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB - no_errors OCA2 HGNC ENSG00000104044 63 0 0 42 15 26.3158 HERC2 0 genome.wustl.edu 37 15 28447385 28447385 + Silent SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 15 28447385 28447385 G T SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known silent c.7491 p.A2497 0.998 superfamily_UBA-like pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 124 0 0 79 14 15.0538 HERC2 0 genome.wustl.edu 37 15 28538093 28538093 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 15 28538093 28538093 G T SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.263 p.P88H 0.795 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 81 0 0 37 19 33.9286 SLC12A6 0 genome.wustl.edu 37 15 34628841 34628841 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 15 34628841 34628841 C T SNP SLC12A6 ENST00000558589 human ensembl 74_37 -1 known missense c.14 p.R5Q 1.000 NULL pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A6 HGNC ENSG00000140199 85 0 0 68 33 32.6733 AQR 0 genome.wustl.edu 37 15 35198753 35198753 + Silent SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 15 35198753 35198753 A G SNP AQR ENST00000156471 human ensembl 74_37 -1 known silent c.1824 p.I608 1.000 NULL superfamily_P-loop_NTPase - no_errors AQR HGNC ENSG00000021776 96 0 0 76 27 26.2136 TYRO3 0 genome.wustl.edu 37 15 41863254 41863254 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 15 41863254 41863254 G A SNP TYRO3 ENST00000263798 human ensembl 74_37 +1 known missense c.1598 p.R533Q 0.999 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TYRO3 HGNC ENSG00000092445 281 0 0 253 22 8 MGA 0 genome.wustl.edu 37 15 42057187 42057187 + Silent SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 15 42057187 42057187 G T SNP MGA ENST00000219905 human ensembl 74_37 +1 known silent c.7848 p.V2616 1.000 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 239 0 0 223 23 9.34959 MGA 0 genome.wustl.edu 37 15 42059314 42059314 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 15 42059314 42059314 C T SNP MGA ENST00000219905 human ensembl 74_37 +1 known missense c.9034 p.P3012S 1.000 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 112 0 0 89 36 28.8 VPS39 0 genome.wustl.edu 37 15 42455911 42455911 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 15 42455911 42455911 C T SNP VPS39 ENST00000348544 human ensembl 74_37 -1 known missense c.2075 p.R692Q 0.998 NULL pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron - no_errors VPS39 HGNC ENSG00000166887 21 0 0 15 10 40 LCMT2 0 genome.wustl.edu 37 15 43621731 43621731 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 15 43621731 43621731 G A SNP LCMT2 ENST00000305641 human ensembl 74_37 -1 known silent c.957 p.H319 0.000 NULL pfam_LCM_MeTrfase - no_errors LCMT2 HGNC ENSG00000168806 96 0 0 79 26 24.7619 ADAL 0 genome.wustl.edu 37 15 43628015 43628015 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 15 43628015 43628015 C T SNP ADAL ENST00000422466 human ensembl 74_37 +1 known missense c.185 p.T62I 1.000 pfam_A/AMP_deaminase_dom pfam_A/AMP_deaminase_dom - no_errors ADAL HGNC ENSG00000168803 115 0 0 67 25 27.1739 CTDSPL2 0 genome.wustl.edu 37 15 44806839 44806839 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 15 44806839 44806839 G A SNP CTDSPL2 ENST00000260327 human ensembl 74_37 +1 known missense c.1013 p.R338Q 1.000 pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase - no_errors CTDSPL2 HGNC ENSG00000137770 95 0 0 46 17 26.9841 SLC12A1 0 genome.wustl.edu 37 15 48512844 48512844 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 15 48512844 48512844 C T SNP SLC12A1 ENST00000380993 human ensembl 74_37 +1 known missense c.434 p.T145I 0.378 pfam_AA_permease_N,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A1 HGNC ENSG00000074803 21 0 0 28 5 15.1515 FBN1 0 genome.wustl.edu 37 15 48704804 48704804 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 15 48704804 48704804 G A SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.8188 p.R2730W 0.998 pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 188 0 0 133 41 23.5632 DMXL2 0 genome.wustl.edu 37 15 51857352 51857352 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 15 51857352 51857352 G A SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known silent c.297 p.C99 1.000 superfamily_WD40_repeat_dom pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 28 0 0 21 4 16 UNC13C 0 genome.wustl.edu 37 15 54914546 54914546 + Missense_Mutation SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 15 54914546 54914546 T C SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.6128 p.V2043A 1.000 superfamily_C2_dom pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 116 0 0 93 33 26.1905 TLN2 0 genome.wustl.edu 37 15 62966048 62966048 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 15 62966048 62966048 G A SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known missense c.811 p.E271K 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 125 1 0.793651 78 34 30.3571 KBTBD13 0 genome.wustl.edu 37 15 65369263 65369263 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 15 65369263 65369263 G A SNP KBTBD13 ENST00000432196 human ensembl 74_37 +1 known missense c.110 p.R37H 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KBTBD13 HGNC ENSG00000234438 15 0 0 9 7 43.75 NOX5 0 genome.wustl.edu 37 15 69335087 69335087 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 15 69335087 69335087 G A SNP NOX5 ENST00000388866 human ensembl 74_37 +1 known missense c.1589 p.R530H 0.000 pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NOX5 HGNC ENSG00000255346 54 0 0 51 14 21.5385 PARP6 0 genome.wustl.edu 37 15 72549754 72549754 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 15 72549754 72549754 C T SNP PARP6 ENST00000287196 human ensembl 74_37 -1 known missense c.934 p.V312I 1.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP6 HGNC ENSG00000137817 162 0 0 145 48 24.8705 TMEM202 0 genome.wustl.edu 37 15 72691037 72691037 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 15 72691037 72691037 G A SNP TMEM202 ENST00000341689 human ensembl 74_37 +1 known missense c.125 p.C42Y 0.000 NULL NULL - no_errors TMEM202 HGNC ENSG00000187806 79 0 0 54 28 34.1463 GOLGA6B 0 genome.wustl.edu 37 15 72956844 72956844 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 15 72956844 72956844 C T SNP GOLGA6B ENST00000421285 human ensembl 74_37 +1 known missense c.1493 p.P498L 0.103 NULL NULL - no_errors GOLGA6B HGNC ENSG00000215186 21 0 0 12 8 40 ETFA 0 genome.wustl.edu 37 15 76585005 76585005 + Missense_Mutation SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 15 76585005 76585005 T C SNP ETFA ENST00000557943 human ensembl 74_37 -1 known missense c.223 p.K75E 1.000 pfam_ETF_a/b_N,smart_ETF_a/b_N,pirsf_ETF_a pfam_ETF_asu_C,pfam_ETF_a/b_N,smart_ETF_a/b_N,pirsf_ETF_a - no_errors ETFA HGNC ENSG00000140374 89 0 0 54 19 26.0274 MEX3B 0 genome.wustl.edu 37 15 82335957 82335957 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 15 82335957 82335957 C T SNP MEX3B ENST00000329713 human ensembl 74_37 -1 known silent c.1254 p.A418 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3B HGNC ENSG00000183496 12 0 0 13 4 23.5294 KLHL25 0 genome.wustl.edu 37 15 86311599 86311599 + Silent SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 15 86311599 86311599 A G SNP KLHL25 ENST00000337975 human ensembl 74_37 -1 known silent c.1443 p.P481 0.002 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL25 HGNC ENSG00000183655 144 0 0 103 47 31.3333 POLG 0 genome.wustl.edu 37 15 89872190 89872190 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 15 89872190 89872190 G A SNP POLG ENST00000268124 human ensembl 74_37 -1 known missense c.1007 p.A336V 0.566 pirsf_DNA-dir_DNA_pol_A_mt_sub,superfamily_RNaseH-like_dom pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt - no_errors POLG HGNC ENSG00000140521 67 0 0 49 22 30.9859 TICRR 0 genome.wustl.edu 37 15 90164625 90164625 + Missense_Mutation SNP C C G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 15 90164625 90164625 C G SNP TICRR ENST00000268138 human ensembl 74_37 +1 known missense c.3156 p.D1052E 0.993 NULL NULL - no_errors TICRR HGNC ENSG00000140534 47 0 0 36 13 26.5306 PRC1 0 genome.wustl.edu 37 15 91527282 91527282 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 15 91527282 91527282 G A SNP PRC1 ENST00000394249 human ensembl 74_37 -1 known missense c.233 p.T78I 0.002 pfam_MAP65_Ase1_PRC1 pfam_MAP65_Ase1_PRC1 - no_errors PRC1 HGNC ENSG00000198901 355 0 0 282 104 26.943 CHD2 0 genome.wustl.edu 37 15 93552395 93552395 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 15 93552395 93552395 C T SNP CHD2 ENST00000557381 human ensembl 74_37 +1 putative silent c.4434 p.P1478 0.013 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 31 0 0 25 3 10.7143 RGMA 0 genome.wustl.edu 37 15 93588402 93588402 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 15 93588402 93588402 G A SNP RGMA ENST00000329082 human ensembl 74_37 -1 known silent c.1179 p.A393 0.921 pfam_RGM_C pfam_RGM_N,pfam_RGM_C - no_errors RGMA HGNC ENSG00000182175 17 0 0 22 5 18.5185 RGMA 0 genome.wustl.edu 37 15 93588679 93588679 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 15 93588679 93588679 A G SNP RGMA ENST00000329082 human ensembl 74_37 -1 known missense c.902 p.V301A 0.999 pfam_RGM_C pfam_RGM_N,pfam_RGM_C - no_errors RGMA HGNC ENSG00000182175 34 0 0 35 9 20.4545 MCTP2 0 genome.wustl.edu 37 15 94841688 94841688 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 15 94841688 94841688 G A SNP MCTP2 ENST00000357742 human ensembl 74_37 +1 known missense c.194 p.G65D 0.171 NULL pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors MCTP2 HGNC ENSG00000140563 90 0 0 72 26 26.5306 ARRDC4 0 genome.wustl.edu 37 15 98514379 98514379 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 15 98514379 98514379 G A SNP ARRDC4 ENST00000268042 human ensembl 74_37 +1 known missense c.1219 p.D407N 0.002 NULL pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC4 HGNC ENSG00000140450 201 0 0 130 54 29.3478 CIITA 0 genome.wustl.edu 37 16 11000900 11000900 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 11000900 11000900 G A SNP CIITA ENST00000324288 human ensembl 74_37 +1 known silent c.1551 p.P517 0.000 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact - no_errors CIITA HGNC ENSG00000179583 100 0 0 68 22 24.4444 CACNA1H 0 genome.wustl.edu 37 16 1270167 1270167 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 1270167 1270167 G A SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known missense c.6235 p.V2079I 0.247 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 34 0 0 19 7 26.9231 KIAA0430 0 genome.wustl.edu 37 16 15718923 15718923 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 15718923 15718923 C T SNP KIAA0430 ENST00000396368 human ensembl 74_37 -1 known silent c.2061 p.S687 0.000 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 163 0 0 100 42 29.5775 FOPNL 0 genome.wustl.edu 37 16 15967449 15967449 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 15967449 15967449 C T SNP FOPNL ENST00000255759 human ensembl 74_37 -1 known missense c.347 p.R116H 0.799 NULL pfam_FOP_dimerisation-dom_N,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors FOPNL HGNC ENSG00000133393 76 0 0 56 14 20 TMC7 0 genome.wustl.edu 37 16 19020719 19020719 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 19020719 19020719 C A SNP TMC7 ENST00000304381 human ensembl 74_37 +1 known missense c.293 p.S98Y 0.995 NULL pfam_TMC - no_errors TMC7 HGNC ENSG00000170537 174 0 0 114 59 34.104 ITPRIPL2 0 genome.wustl.edu 37 16 19126435 19126435 + Missense_Mutation SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 19126435 19126435 T C SNP ITPRIPL2 ENST00000381440 human ensembl 74_37 +1 known missense c.652 p.S218P 0.033 NULL NULL - no_errors ITPRIPL2 HGNC ENSG00000205730 72 0 0 58 28 32.5581 ZNF598 0 genome.wustl.edu 37 16 2050159 2050159 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 2050159 2050159 G T SNP ZNF598 ENST00000431526 human ensembl 74_37 -1 known missense c.1391 p.P464H 0.044 NULL superfamily_PAH,smart_Znf_C2H2-like,pfscan_Znf_RING - no_errors ZNF598 HGNC ENSG00000167962 69 0 0 59 25 29.7619 DNAH3 0 genome.wustl.edu 37 16 20990740 20990740 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 20990740 20990740 G A SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.7988 p.T2663M 0.826 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 115 0 0 79 32 28.8288 TSC2 0 genome.wustl.edu 37 16 2106227 2106227 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 2106227 2106227 G A SNP TSC2 ENST00000439117 human ensembl 74_37 +1 known missense c.256 p.V86I 0.797 NULL NULL - no_errors TSC2 HGNC ENSG00000103197 71 0 0 53 20 27.3973 DNAH3 0 genome.wustl.edu 37 16 21136501 21136501 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 21136501 21136501 G A SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.1399 p.H467Y 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 87 0 0 71 34 32.381 RAB26 0 genome.wustl.edu 37 16 2203418 2203418 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 2203418 2203418 C A SNP RAB26 ENST00000210187 human ensembl 74_37 +1 known missense c.767 p.P256H 0.974 smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB26 HGNC ENSG00000167964 60 0 0 29 15 34.0909 VWA3A 0 genome.wustl.edu 37 16 22166968 22166968 + Nonsense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 22166968 22166968 G A SNP VWA3A ENST00000389398 human ensembl 74_37 +1 known nonsense c.3486 p.W1162* 0.144 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3A HGNC ENSG00000175267 155 0 0 109 42 27.8146 GTF3C1 0 genome.wustl.edu 37 16 27475941 27475941 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 27475941 27475941 G A SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known missense c.5572 p.R1858W 0.003 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 97 0 0 79 24 23.301 GTF3C1 0 genome.wustl.edu 37 16 27540000 27540000 + Missense_Mutation SNP G G C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 27540000 27540000 G C SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known missense c.892 p.L298V 1.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 195 0 0 123 48 28.0702 CD19 0 genome.wustl.edu 37 16 28948647 28948647 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 28948647 28948647 C T SNP CD19 ENST00000538922 human ensembl 74_37 +1 known silent c.1254 p.S418 0.957 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD19 HGNC ENSG00000177455 50 0 0 30 16 34.7826 TAOK2 0 genome.wustl.edu 37 16 29990825 29990825 + Missense_Mutation SNP G G C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 29990825 29990825 G C SNP TAOK2 ENST00000308893 human ensembl 74_37 +1 known missense c.651 p.E217D 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 TAOK2 HGNC ENSG00000149930 24 0 0 14 7 33.3333 HIRIP3 0 genome.wustl.edu 37 16 30005879 30005879 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 30005879 30005879 C T SNP HIRIP3 ENST00000279392 human ensembl 74_37 -1 known missense c.587 p.S196N 0.046 NULL pfam_Histone_chaperone_domain_CHZ - no_errors HIRIP3 HGNC ENSG00000149929 371 0 0 268 112 29.4737 TBX6 0 genome.wustl.edu 37 16 30098135 30098135 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 30098135 30098135 G T SNP TBX6 ENST00000279386 human ensembl 74_37 -1 known missense c.877 p.P293T 0.998 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury - no_errors TBX6 HGNC ENSG00000149922 40 0 0 32 6 15.7895 PKMYT1 0 genome.wustl.edu 37 16 3023060 3023060 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 3023060 3023060 G A SNP PKMYT1 ENST00000262300 human ensembl 74_37 -1 known missense c.1394 p.A465V 0.485 pirsf_Tyr/Thr_kinase_Cdc2_inhib 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,pirsf_Tyr/Thr_kinase_Cdc2_inhib,pfscan_Prot_kinase_dom - no_errors PKMYT1 HGNC ENSG00000127564 40 0 0 35 14 28.5714 CLDN9 0 genome.wustl.edu 37 16 3063922 3063922 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 3063922 3063922 C A SNP CLDN9 ENST00000445369 human ensembl 74_37 +1 known missense c.559 p.P187T 0.989 NULL pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin9 - no_errors CLDN9 HGNC ENSG00000213937 74 0 0 66 27 29.0323 SRCAP 0 genome.wustl.edu 37 16 30748452 30748452 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 30748452 30748452 C T SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known missense c.7091 p.P2364L 0.994 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 71 0 0 45 20 30.7692 PHKG2 0 genome.wustl.edu 37 16 30762482 30762482 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 30762482 30762482 G A SNP PHKG2 ENST00000563588 human ensembl 74_37 +1 known missense c.151 p.A51T 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,prints_Phosph_kin_gamma,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PHKG2 HGNC ENSG00000156873 71 0 0 62 18 22.5 SETD1A 0 genome.wustl.edu 37 16 30976142 30976142 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 30976142 30976142 G A SNP SETD1A ENST00000262519 human ensembl 74_37 +1 known missense c.1079 p.R360H 1.000 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1A HGNC ENSG00000099381 268 0 0 186 78 29.5455 HSD3B7 0 genome.wustl.edu 37 16 30998233 30998233 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 30998233 30998233 A G SNP HSD3B7 ENST00000297679 human ensembl 74_37 +1 known missense c.604 p.M202V 1.000 pfam_3Beta_OHSteriod_DH/Estase pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,pfam_dTDP_dehydrorham_reduct,pfam_NmrA - no_errors HSD3B7 HGNC ENSG00000099377 87 0 0 61 4 6.15385 CLUAP1 0 genome.wustl.edu 37 16 3582814 3582814 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 3582814 3582814 G A SNP CLUAP1 ENST00000576634 human ensembl 74_37 +1 known silent c.1065 p.T355 0.356 NULL pfam_Clusterin-associated_protein-1,superfamily_CH-domain - no_errors CLUAP1 HGNC ENSG00000103351 97 0 0 65 24 26.9663 CREBBP 0 genome.wustl.edu 37 16 3820836 3820836 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 3820836 3820836 G A SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known missense c.2615 p.T872M 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 80 0 0 66 27 29.0323 ABCC12 0 genome.wustl.edu 37 16 48180287 48180287 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 48180287 48180287 G A SNP ABCC12 ENST00000311303 human ensembl 74_37 -1 known missense c.49 p.R17W 0.006 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC12 HGNC ENSG00000140798 126 0 0 67 29 30.2083 ROGDI 0 genome.wustl.edu 37 16 4847715 4847715 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 4847715 4847715 C A SNP ROGDI ENST00000322048 human ensembl 74_37 -1 known missense c.822 p.K274N 1.000 pfam_RAVE2/Rogdi pfam_RAVE2/Rogdi - no_errors ROGDI HGNC ENSG00000067836 136 0 0 109 44 28.7582 UBN1 0 genome.wustl.edu 37 16 4925334 4925334 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 4925334 4925334 G A SNP UBN1 ENST00000262376 human ensembl 74_37 +1 known missense c.2923 p.G975R 1.000 NULL NULL - no_errors UBN1 HGNC ENSG00000118900 124 0 0 74 42 36.2069 ZNF423 0 genome.wustl.edu 37 16 49669949 49669949 + Silent SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 49669949 49669949 A G SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known silent c.3114 p.H1038 0.568 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 33 0 0 17 7 29.1667 CHD9 0 genome.wustl.edu 37 16 53358288 53358288 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 53358288 53358288 G T SNP CHD9 ENST00000398510 human ensembl 74_37 +1 known missense c.8175 p.L2725F 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 84 0 0 59 23 28.0488 SLC12A3 0 genome.wustl.edu 37 16 56924230 56924230 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 56924230 56924230 G A SNP SLC12A3 ENST00000438926 human ensembl 74_37 +1 known missense c.2330 p.R777Q 0.606 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 76 0 0 48 22 31.4286 GPR114 0 genome.wustl.edu 37 16 57604383 57604383 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 57604383 57604383 G A SNP GPR114 ENST00000340339 human ensembl 74_37 +1 known missense c.1144 p.G382R 0.277 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56 - no_errors GPR114 HGNC ENSG00000159618 62 0 0 47 15 24.1935 GPR97 0 genome.wustl.edu 37 16 57718088 57718088 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 57718088 57718088 G A SNP GPR97 ENST00000333493 human ensembl 74_37 +1 known missense c.1126 p.G376R 0.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_orphan_rcpt_GPR56 pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56 - no_errors GPR97 HGNC ENSG00000182885 119 0 0 106 30 22.0588 CAPN15 0 genome.wustl.edu 37 16 601555 601555 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 601555 601555 G A SNP CAPN15 ENST00000219611 human ensembl 74_37 +1 known missense c.2236 p.G746S 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN15 HGNC ENSG00000103326 113 0 0 76 30 28.3019 CES2 0 genome.wustl.edu 37 16 66974389 66974389 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 66974389 66974389 G A SNP CES2 ENST00000317091 human ensembl 74_37 +1 known missense c.799 p.A267T 0.936 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES2 HGNC ENSG00000172831 71 0 0 42 19 31.1475 B3GNT9 0 genome.wustl.edu 37 16 67183798 67183798 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 67183798 67183798 G A SNP B3GNT9 ENST00000449549 human ensembl 74_37 -1 known silent c.591 p.F197 0.238 pfam_Glyco_trans_31 pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GNT9 HGNC ENSG00000237172 14 0 0 10 6 37.5 CDH3 0 genome.wustl.edu 37 16 68714935 68714935 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 68714935 68714935 C T SNP CDH3 ENST00000264012 human ensembl 74_37 +1 known missense c.932 p.T311M 0.949 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH3 HGNC ENSG00000062038 105 0 0 72 20 21.7391 CDH1 0 genome.wustl.edu 37 16 68847398 68847398 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 68847398 68847398 G T SNP CDH1 ENST00000261769 human ensembl 74_37 +1 known missense c.1320 p.K440N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 332 0 0 255 104 28.9694 HYDIN 0 genome.wustl.edu 37 16 70867810 70867810 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 70867810 70867810 G A SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative silent c.13659 p.N4553 1.000 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 23 0 0 28 16 36.3636 FA2H 0 genome.wustl.edu 37 16 74752999 74752999 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 74752999 74752999 G T SNP FA2H ENST00000219368 human ensembl 74_37 -1 known missense c.673 p.L225I 0.007 pfam_Fatty_acid_hydroxylase,pirsf_Ino-phos-ceramide-B_Hydrxlase pfam_Fatty_acid_hydroxylase,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Ino-phos-ceramide-B_Hydrxlase,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Cyt_B5-like_heme/steroid-bd - no_errors FA2H HGNC ENSG00000103089 64 0 0 48 21 30.4348 CHST5 0 genome.wustl.edu 37 16 75563882 75563882 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 75563882 75563882 G A SNP CHST5 ENST00000541075 human ensembl 74_37 -1 known missense c.419 p.P140L 0.987 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST5 HGNC ENSG00000135702 115 0 0 74 29 28.1553 CHST5 0 genome.wustl.edu 37 16 75563934 75563934 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 75563934 75563934 G A SNP CHST5 ENST00000541075 human ensembl 74_37 -1 known silent c.367 p.L123 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST5 HGNC ENSG00000135702 82 0 0 59 22 27.1605 MON1B 0 genome.wustl.edu 37 16 77227571 77227571 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 77227571 77227571 G A SNP MON1B ENST00000248248 human ensembl 74_37 +1 known silent c.372 p.S124 0.092 pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1 pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1 - no_errors MON1B HGNC ENSG00000103111 78 0 0 96 11 10.2804 VPS9D1 0 genome.wustl.edu 37 16 89783151 89783151 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 89783151 89783151 C T SNP VPS9D1 ENST00000389386 human ensembl 74_37 -1 known silent c.255 p.T85 0.062 NULL pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9 - no_errors VPS9D1 HGNC ENSG00000075399 42 0 0 33 7 17.5 USP7 0 genome.wustl.edu 37 16 8999108 8999108 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 8999108 8999108 G A SNP USP7 ENST00000344836 human ensembl 74_37 -1 known silent c.1509 p.D503 0.993 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_MATH,pfam_USP7_ICP0-binding_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67 - no_errors USP7 HGNC ENSG00000187555 117 0 0 77 42 35.2941 MYH2 0 genome.wustl.edu 37 17 10436629 10436629 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 10436629 10436629 A G SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known missense c.2414 p.V805A 1.000 superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 119 0 0 110 11 9.09091 ENSG00000205325 0 genome.wustl.edu 37 17 14683434 14683434 + RNA SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 14683434 14683434 G A SNP ENSG00000205325 ENST00000379640 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors AC005863.1 Clone_based_vega_gene ENSG00000205325 99 0 0 73 35 32.4074 TVP23C 0 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 15441469 15441469 C T SNP TVP23C ENST00000523573 human ensembl 74_37 -1 known splice_site c.162-2 e5-2 0.998 - - - no_errors TVP23C HGNC ENSG00000175106 73 0 0 78 31 28.4404 SMYD4 0 genome.wustl.edu 37 17 1704002 1704002 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 1704002 1704002 G T SNP SMYD4 ENST00000305513 human ensembl 74_37 -1 known missense c.686 p.S229Y 0.162 NULL pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD4 HGNC ENSG00000186532 195 1 0.510204 144 54 27.2727 MYO15A 0 genome.wustl.edu 37 17 18034842 18034842 + Silent SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 18034842 18034842 T C SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known silent c.4203 p.F1401 0.999 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 50 0 0 31 6 16.2162 LLGL1 0 genome.wustl.edu 37 17 18144927 18144927 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 18144927 18144927 G A SNP LLGL1 ENST00000316843 human ensembl 74_37 +1 known missense c.2665 p.V889I 1.000 superfamily_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL1 HGNC ENSG00000131899 88 0 0 21 33 61.1111 DHRS7B 0 genome.wustl.edu 37 17 21081645 21081645 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 21081645 21081645 A G SNP DHRS7B ENST00000395511 human ensembl 74_37 +1 known missense c.299 p.H100R 0.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_DUF1776_fun,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS7B HGNC ENSG00000109016 74 0 0 34 27 44.2623 SLC13A2 0 genome.wustl.edu 37 17 26817589 26817589 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 26817589 26817589 G A SNP SLC13A2 ENST00000444914 human ensembl 74_37 +1 known missense c.496 p.V166I 0.054 pfam_Na/sul_symport,pfam_Cit_transptr-like_dom pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A2 HGNC ENSG00000007216 116 0 0 60 37 38.1443 FOXN1 0 genome.wustl.edu 37 17 26861463 26861463 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 26861463 26861463 C A SNP FOXN1 ENST00000226247 human ensembl 74_37 +1 known missense c.1042 p.L348I 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN1 HGNC ENSG00000109101 73 0 0 48 22 31.4286 RASL10B 0 genome.wustl.edu 37 17 34062267 34062267 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 34062267 34062267 C T SNP RASL10B ENST00000268864 human ensembl 74_37 +1 known missense c.64 p.R22C 1.000 pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors RASL10B HGNC ENSG00000141150 50 0 0 30 15 33.3333 ENSG00000266999 0 genome.wustl.edu 37 17 34235608 34235608 + RNA SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 34235608 34235608 C A SNP ENSG00000266999 ENST00000587132 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC015849.16 Clone_based_vega_gene ENSG00000266999 117 0 0 104 6 5.45455 ACACA 0 genome.wustl.edu 37 17 35687288 35687288 + Nonsense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 35687288 35687288 G A SNP ACACA ENST00000353139 human ensembl 74_37 -1 known nonsense c.163 p.R55* 0.758 NULL pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 147 0 0 97 33 25.3846 PLXDC1 0 genome.wustl.edu 37 17 37243886 37243886 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 37243886 37243886 G A SNP PLXDC1 ENST00000315392 human ensembl 74_37 -1 known missense c.881 p.S294L 0.622 NULL pfam_Plexin_repeat,superfamily_Plexin-like_fold - no_errors PLXDC1 HGNC ENSG00000161381 45 0 0 20 8 28.5714 MIEN1 0 genome.wustl.edu 37 17 37885823 37885823 + Missense_Mutation SNP T T G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 37885823 37885823 T G SNP MIEN1 ENST00000394231 human ensembl 74_37 -1 known missense c.300 p.E100D 1.000 superfamily_Thioredoxin-like_fold pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ - no_errors MIEN1 HGNC ENSG00000141741 194 0 0 157 58 26.9767 PSMD3 0 genome.wustl.edu 37 17 38142881 38142881 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 38142881 38142881 G A SNP PSMD3 ENST00000415039 human ensembl 74_37 +1 known missense c.200 p.R67H 0.018 NULL NULL - no_errors PSMD3 HGNC ENSG00000108344 221 0 0 160 77 32.4895 THRA 0 genome.wustl.edu 37 17 38233862 38233862 + Splice_Site SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 38233862 38233862 G A SNP THRA ENST00000264637 human ensembl 74_37 +1 known splice_site c.222+1 e3+1 1.000 - - - no_errors THRA HGNC ENSG00000126351 127 0 0 116 17 12.782 KRT12 0 genome.wustl.edu 37 17 39019563 39019563 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 39019563 39019563 G A SNP KRT12 ENST00000251643 human ensembl 74_37 -1 known silent c.1128 p.A376 0.953 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT12 HGNC ENSG00000187242 32 0 0 29 5 14.7059 KRT33B 0 genome.wustl.edu 37 17 39525807 39525807 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 39525807 39525807 G T SNP KRT33B ENST00000251646 human ensembl 74_37 -1 known missense c.196 p.R66S 1.000 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT33B HGNC ENSG00000131738 122 0 0 107 26 19.5489 KRT19 0 genome.wustl.edu 37 17 39680055 39680055 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 39680055 39680055 G A SNP KRT19 ENST00000361566 human ensembl 74_37 -1 known silent c.1143 p.R381 0.790 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT19 HGNC ENSG00000171345 60 0 0 40 14 25.9259 KRT19 0 genome.wustl.edu 37 17 39680717 39680717 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 39680717 39680717 C T SNP KRT19 ENST00000361566 human ensembl 74_37 -1 known missense c.736 p.A246T 0.885 pfam_IF,superfamily_Prefoldin,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT19 HGNC ENSG00000171345 153 0 0 99 50 33.557 FKBP10 0 genome.wustl.edu 37 17 39969513 39969513 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 39969513 39969513 G A SNP FKBP10 ENST00000321562 human ensembl 74_37 +1 known missense c.227 p.G76D 1.000 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP10 HGNC ENSG00000141756 245 0 0 192 15 7.24638 HSD17B1 0 genome.wustl.edu 37 17 40706846 40706846 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 40706846 40706846 G A SNP HSD17B1 ENST00000585807 human ensembl 74_37 +1 known missense c.877 p.E293K 0.000 pirsf_17beta_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B1 HGNC ENSG00000108786 26 0 0 24 3 11.1111 NBR1 0 genome.wustl.edu 37 17 41341640 41341640 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 41341640 41341640 G A SNP NBR1 ENST00000341165 human ensembl 74_37 +1 known silent c.516 p.K172 1.000 NULL pfam_OPR_PB1,pfam_Znf_ZZ,superfamily_UBA-like,smart_OPR_PB1,smart_Znf_ZZ,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_ZZ - no_errors NBR1 HGNC ENSG00000188554 104 0 0 104 27 20.6107 HEXIM2 0 genome.wustl.edu 37 17 43246699 43246699 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 43246699 43246699 C T SNP HEXIM2 ENST00000307275 human ensembl 74_37 +1 known silent c.384 p.R128 0.002 NULL NULL - no_errors HEXIM2 HGNC ENSG00000168517 53 0 0 43 19 30.6452 WNT3 0 genome.wustl.edu 37 17 44845923 44845923 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 44845923 44845923 G A SNP WNT3 ENST00000225512 human ensembl 74_37 -1 known silent c.831 p.Y277 0.764 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt3 - no_errors WNT3 HGNC ENSG00000108379 115 0 0 97 34 25.9542 ITGB3 0 genome.wustl.edu 37 17 45380143 45380143 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 45380143 45380143 G A SNP ITGB3 ENST00000559488 human ensembl 74_37 +1 known missense c.2071 p.V691I 0.960 pirsf_Integrin_bsu,pfam_Integrin_bsu_tail,superfamily_Integrin_bsu_tail pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB3 HGNC ENSG00000259207 70 0 0 49 19 27.9412 SGCA 0 genome.wustl.edu 37 17 48252649 48252649 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 48252649 48252649 G T SNP SGCA ENST00000262018 human ensembl 74_37 +1 known missense c.1015 p.G339W 0.837 pfam_Sarcoglycan_2 pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg - no_errors SGCA HGNC ENSG00000108823 22 0 0 14 6 30 TEX14 0 genome.wustl.edu 37 17 56700344 56700344 + Missense_Mutation SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 56700344 56700344 T C SNP TEX14 ENST00000240361 human ensembl 74_37 -1 known missense c.281 p.H94R 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors TEX14 HGNC ENSG00000121101 43 0 0 31 14 31.1111 MED13 0 genome.wustl.edu 37 17 60062071 60062071 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 60062071 60062071 C T SNP MED13 ENST00000397786 human ensembl 74_37 -1 known missense c.2632 p.A878T 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 82 0 0 31 12 27.907 MRC2 0 genome.wustl.edu 37 17 60757243 60757243 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 60757243 60757243 C T SNP MRC2 ENST00000303375 human ensembl 74_37 +1 known missense c.2278 p.R760C 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC2 HGNC ENSG00000011028 32 0 0 23 15 39.4737 STRADA 0 genome.wustl.edu 37 17 61781857 61781857 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 61781857 61781857 G A SNP STRADA ENST00000336174 human ensembl 74_37 -1 known missense c.944 p.S315L 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_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 STRADA HGNC ENSG00000266173 89 0 0 86 18 17.3077 SMARCD2 0 genome.wustl.edu 37 17 61911863 61911863 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 61911863 61911863 A G SNP SMARCD2 ENST00000448276 human ensembl 74_37 -1 known missense c.892 p.C298R 1.000 NULL pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain - no_errors SMARCD2 HGNC ENSG00000108604 148 0 0 111 41 26.9737 SMARCD2 0 genome.wustl.edu 37 17 61912836 61912836 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 61912836 61912836 C T SNP SMARCD2 ENST00000448276 human ensembl 74_37 -1 known missense c.659 p.G220E 1.000 NULL pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain - no_errors SMARCD2 HGNC ENSG00000108604 76 0 0 32 22 40.7407 DDX5 0 genome.wustl.edu 37 17 62496081 62496081 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 62496081 62496081 G T SNP DDX5 ENST00000225792 human ensembl 74_37 -1 known missense c.1805 p.P602H 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_P68HR,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX5 HGNC ENSG00000108654 57 0 0 36 5 12.1951 GEMIN4 0 genome.wustl.edu 37 17 650231 650231 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 650231 650231 C T SNP GEMIN4 ENST00000319004 human ensembl 74_37 -1 known missense c.1052 p.S351N 0.993 NULL NULL - no_errors GEMIN4 HGNC ENSG00000179409 121 0 0 124 8 6.06061 MED31 0 genome.wustl.edu 37 17 6547901 6547901 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 6547901 6547901 C T SNP MED31 ENST00000225728 human ensembl 74_37 -1 known silent c.282 p.A94 0.999 pfam_Mediator_Med31 pfam_Mediator_Med31 - no_errors MED31 HGNC ENSG00000108590 119 0 0 44 64 59.2593 SDK2 0 genome.wustl.edu 37 17 71398252 71398252 + Missense_Mutation SNP T T A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 71398252 71398252 T A SNP SDK2 ENST00000392650 human ensembl 74_37 -1 known missense c.2513 p.E838V 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK2 HGNC ENSG00000069188 66 0 0 53 11 17.1875 KIF19 0 genome.wustl.edu 37 17 72345394 72345394 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 72345394 72345394 C T SNP KIF19 ENST00000389916 human ensembl 74_37 +1 known silent c.1119 p.G373 0.013 superfamily_P-loop_NTPase pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF19 HGNC ENSG00000196169 72 0 0 35 18 33.9623 RECQL5 0 genome.wustl.edu 37 17 73658666 73658666 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 73658666 73658666 G A SNP RECQL5 ENST00000317905 human ensembl 74_37 -1 known missense c.664 p.R222W 1.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL5 HGNC ENSG00000108469 450 0 0 392 28 6.66667 UNC13D 0 genome.wustl.edu 37 17 73832117 73832117 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 73832117 73832117 C T SNP UNC13D ENST00000412096 human ensembl 74_37 -1 known missense c.1520 p.R507H 1.000 NULL pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors UNC13D HGNC ENSG00000092929 198 0 0 139 51 26.8421 EVPL 0 genome.wustl.edu 37 17 74003402 74003402 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 74003402 74003402 C T SNP EVPL ENST00000301607 human ensembl 74_37 -1 known missense c.5884 p.G1962R 0.968 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 132 0 0 78 24 23.5294 ST6GALNAC1 0 genome.wustl.edu 37 17 74623283 74623283 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 74623283 74623283 G A SNP ST6GALNAC1 ENST00000156626 human ensembl 74_37 -1 known silent c.1038 p.P346 0.455 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC1 HGNC ENSG00000070526 66 0 0 32 26 44.8276 CD68 0 genome.wustl.edu 37 17 7483329 7483329 + Missense_Mutation SNP C C G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 7483329 7483329 C G SNP CD68 ENST00000250092 human ensembl 74_37 +1 known missense c.251 p.T84S 0.000 pfam_Lysosome-assoc_membr_glycop pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop - no_errors CD68 HGNC ENSG00000129226 66 0 0 28 39 58.209 TP53 0 genome.wustl.edu 37 17 7579348 7579348 + Missense_Mutation SNP G G C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 7579348 7579348 G C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.339 p.F113L 1.000 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 113 0 0 36 58 61.7021 ENPP7 0 genome.wustl.edu 37 17 77709262 77709262 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 77709262 77709262 G A SNP ENPP7 ENST00000328313 human ensembl 74_37 +1 known missense c.820 p.E274K 0.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,superfamily_Alkaline_phosphatase_core - no_errors ENPP7 HGNC ENSG00000182156 119 0 0 66 13 16.4557 RNF213 0 genome.wustl.edu 37 17 78280270 78280270 + Splice_Site SNP T T G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 78280270 78280270 T G SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known splice_site c.2427+2 e11+2 0.823 - - - no_errors RNF213 HGNC ENSG00000173821 40 0 0 34 16 32 GPS1 0 genome.wustl.edu 37 17 80014355 80014355 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 80014355 80014355 C T SNP GPS1 ENST00000355130 human ensembl 74_37 +1 known missense c.1165 p.L389F 1.000 pfam_PCI_dom pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom - no_errors GPS1 HGNC ENSG00000169727 49 0 0 41 9 18 TEX19 0 genome.wustl.edu 37 17 80320038 80320038 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 80320038 80320038 G A SNP TEX19 ENST00000333437 human ensembl 74_37 +1 known silent c.12 p.P4 0.622 NULL NULL - no_errors TEX19 HGNC ENSG00000182459 145 0 0 97 47 32.6389 GAS7 0 genome.wustl.edu 37 17 9828811 9828811 + Missense_Mutation SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 9828811 9828811 T C SNP GAS7 ENST00000432992 human ensembl 74_37 -1 known missense c.1120 p.R374G 1.000 NULL pfam_FCH_dom,pfam_WW_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_WW_dom,smart_SH3_domain,smart_WW_dom,smart_FCH_dom,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_WW_dom - no_errors GAS7 HGNC ENSG00000007237 227 0 0 108 101 48.3254 LDLRAD4 0 genome.wustl.edu 37 18 13621130 13621130 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 18 13621130 13621130 G A SNP LDLRAD4 ENST00000359446 human ensembl 74_37 +1 known missense c.196 p.A66T 1.000 NULL pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt - no_errors LDLRAD4 HGNC ENSG00000168675 206 0 0 139 48 25.6684 DSG1 0 genome.wustl.edu 37 18 28913557 28913557 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 18 28913557 28913557 C T SNP DSG1 ENST00000257192 human ensembl 74_37 +1 known silent c.690 p.Y230 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmosomal_cadherin - no_errors DSG1 HGNC ENSG00000134760 107 0 0 83 22 20.9524 SLC14A2 0 genome.wustl.edu 37 18 43216967 43216967 + Silent SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 18 43216967 43216967 T C SNP SLC14A2 ENST00000255226 human ensembl 74_37 +1 known silent c.663 p.S221 0.751 pfam_Urea_transporter pfam_Urea_transporter - no_errors SLC14A2 HGNC ENSG00000132874 422 0 0 272 107 28.2322 CTIF 0 genome.wustl.edu 37 18 46343630 46343630 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 18 46343630 46343630 C T SNP CTIF ENST00000382998 human ensembl 74_37 +1 known silent c.1416 p.D472 0.996 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors CTIF HGNC ENSG00000134030 48 0 0 39 19 32.7586 MBD1 0 genome.wustl.edu 37 18 47802019 47802019 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 18 47802019 47802019 C T SNP MBD1 ENST00000424334 human ensembl 74_37 -1 known missense c.821 p.R274H 1.000 pfam_Znf_CXXC,pfscan_Znf_CXXC pfam_Znf_CXXC,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_CXXC - no_errors MBD1 HGNC ENSG00000141644 68 0 0 55 20 26.6667 MAPK4 0 genome.wustl.edu 37 18 48190498 48190498 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 18 48190498 48190498 G A SNP MAPK4 ENST00000400384 human ensembl 74_37 +1 known missense c.170 p.R57H 0.961 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK3/4 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK3/4 - no_errors MAPK4 HGNC ENSG00000141639 105 0 0 77 17 18.0851 ATP8B1 0 genome.wustl.edu 37 18 55315824 55315824 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 18 55315824 55315824 C T SNP ATP8B1 ENST00000283684 human ensembl 74_37 -1 known missense c.3652 p.A1218T 1.000 NULL 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 26 0 0 25 9 26.4706 VPS4B 0 genome.wustl.edu 37 18 61058235 61058235 + Silent SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 18 61058235 61058235 A G SNP VPS4B ENST00000238497 human ensembl 74_37 -1 known silent c.1308 p.F436 1.000 pfam_Vps4_C,superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase - no_errors VPS4B HGNC ENSG00000119541 48 0 0 33 11 25 CD226 0 genome.wustl.edu 37 18 67563197 67563197 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 18 67563197 67563197 A G SNP CD226 ENST00000280200 human ensembl 74_37 -1 known missense c.467 p.M156T 0.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CD226 HGNC ENSG00000150637 64 0 0 50 28 35.8974 PTPRM 0 genome.wustl.edu 37 18 7955139 7955139 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 18 7955139 7955139 C T SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known missense c.859 p.P287S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 86 0 0 70 16 18.6047 PPP4R1 0 genome.wustl.edu 37 18 9570554 9570554 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 18 9570554 9570554 C T SNP PPP4R1 ENST00000400556 human ensembl 74_37 -1 known missense c.1174 p.G392R 0.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R1 HGNC ENSG00000154845 98 0 0 78 33 29.7297 ABCA7 0 genome.wustl.edu 37 19 1055119 1055119 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 1055119 1055119 C T SNP ABCA7 ENST00000263094 human ensembl 74_37 +1 known missense c.3974 p.A1325V 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ENSG00000064687 46 0 0 44 11 20 SMARCA4 0 genome.wustl.edu 37 19 11152043 11152043 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 11152043 11152043 C T SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.4327 p.R1443W 0.996 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 84 0 0 76 25 24.7525 MAN2B1 0 genome.wustl.edu 37 19 12760206 12760206 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 12760206 12760206 C T SNP MAN2B1 ENST00000456935 human ensembl 74_37 -1 known silent c.2304 p.T768 0.007 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B1 HGNC ENSG00000104774 23 0 0 24 5 17.2414 TNPO2 0 genome.wustl.edu 37 19 12814278 12814278 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 12814278 12814278 C T SNP TNPO2 ENST00000425528 human ensembl 74_37 -1 known missense c.2173 p.A725T 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors TNPO2 HGNC ENSG00000105576 145 0 0 96 49 33.7931 MAST1 0 genome.wustl.edu 37 19 12979633 12979633 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 12979633 12979633 G A SNP MAST1 ENST00000251472 human ensembl 74_37 +1 known missense c.2743 p.A915T 0.962 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST1 HGNC ENSG00000105613 88 0 0 61 31 33.6957 FARSA 0 genome.wustl.edu 37 19 13041545 13041545 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 13041545 13041545 G A SNP FARSA ENST00000314606 human ensembl 74_37 -1 known missense c.166 p.R56W 1.000 NULL pfam_Phenylalanyl-tRNA_Synthase,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_asu - no_errors FARSA HGNC ENSG00000179115 84 0 0 64 14 17.9487 NFIX 0 genome.wustl.edu 37 19 13201132 13201132 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 13201132 13201132 C T SNP NFIX ENST00000397661 human ensembl 74_37 +1 known missense c.1274 p.P425L 1.000 NULL pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIX HGNC ENSG00000008441 172 0 0 123 34 21.6561 MUM1 0 genome.wustl.edu 37 19 1376571 1376571 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 1376571 1376571 G A SNP MUM1 ENST00000344663 human ensembl 74_37 +1 known missense c.2132 p.R711Q 0.000 NULL pfam_PWWP_dom - no_errors MUM1 HGNC ENSG00000160953 77 0 0 81 11 11.9565 RFX1 0 genome.wustl.edu 37 19 14080843 14080843 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 14080843 14080843 C T SNP RFX1 ENST00000254325 human ensembl 74_37 -1 known missense c.1459 p.V487I 1.000 pfam_DNA-bd_RFX pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX1 HGNC ENSG00000132005 66 0 0 34 20 37.037 PCSK4 0 genome.wustl.edu 37 19 1487263 1487263 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 1487263 1487263 C T SNP PCSK4 ENST00000588195 human ensembl 74_37 -1 known missense c.643 p.A215T 0.801 NULL pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept - no_errors PCSK4 HGNC ENSG00000115257 33 0 0 14 7 33.3333 CYP4F22 0 genome.wustl.edu 37 19 15648801 15648801 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 15648801 15648801 A G SNP CYP4F22 ENST00000269703 human ensembl 74_37 +1 known missense c.668 p.Q223R 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F22 HGNC ENSG00000171954 63 0 0 58 14 19.4444 OR10H5 0 genome.wustl.edu 37 19 15905282 15905282 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 15905282 15905282 A G SNP OR10H5 ENST00000308940 human ensembl 74_37 +1 known missense c.424 p.T142A 0.044 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H5 HGNC ENSG00000172519 101 0 0 69 8 10.3896 OR10H1 0 genome.wustl.edu 37 19 15918308 15918308 + Silent SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 15918308 15918308 A G SNP OR10H1 ENST00000334920 human ensembl 74_37 -1 known silent c.540 p.H180 0.020 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H1 HGNC ENSG00000186723 120 0 0 127 30 19.1083 OR10H1 0 genome.wustl.edu 37 19 15918435 15918435 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 15918435 15918435 G A SNP OR10H1 ENST00000334920 human ensembl 74_37 -1 known missense c.413 p.P138L 0.270 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H1 HGNC ENSG00000186723 94 0 0 107 18 14.4 CHERP 0 genome.wustl.edu 37 19 16652696 16652696 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 16652696 16652696 G T SNP CHERP ENST00000546361 human ensembl 74_37 -1 known missense c.184 p.L62M 0.995 superfamily_Surp,smart_Surp pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors CHERP HGNC ENSG00000085872 142 0 0 143 28 16.3743 F2RL3 0 genome.wustl.edu 37 19 17001150 17001150 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 17001150 17001150 C T SNP F2RL3 ENST00000248076 human ensembl 74_37 +1 known silent c.876 p.A292 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prot_act_rcpt_4,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors F2RL3 HGNC ENSG00000127533 15 0 0 15 8 34.7826 USHBP1 0 genome.wustl.edu 37 19 17361116 17361116 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 17361116 17361116 G A SNP USHBP1 ENST00000252597 human ensembl 74_37 -1 known missense c.2030 p.A677V 0.385 NULL pfam_USH1C-bd_PDZ_domain - no_errors USHBP1 HGNC ENSG00000130307 56 0 0 35 21 37.5 PLVAP 0 genome.wustl.edu 37 19 17487777 17487777 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 17487777 17487777 G A SNP PLVAP ENST00000252590 human ensembl 74_37 -1 known silent c.321 p.R107 0.039 pfam_PV-1 pfam_PV-1 - no_errors PLVAP HGNC ENSG00000130300 64 0 0 45 17 27.4194 FKBP8 0 genome.wustl.edu 37 19 18650477 18650477 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 18650477 18650477 G A SNP FKBP8 ENST00000453489 human ensembl 74_37 -1 known missense c.433 p.R145C 0.985 pfam_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP8 HGNC ENSG00000105701 304 1 0.327869 246 66 21.1538 KLHL26 0 genome.wustl.edu 37 19 18778937 18778937 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 18778937 18778937 G A SNP KLHL26 ENST00000300976 human ensembl 74_37 +1 known missense c.730 p.A244T 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL26 HGNC ENSG00000167487 35 0 0 33 13 28.2609 UPF1 0 genome.wustl.edu 37 19 18964115 18964115 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 18964115 18964115 C T SNP UPF1 ENST00000599848 human ensembl 74_37 +1 known missense c.1145 p.A382V 0.998 NULL pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase - no_errors UPF1 HGNC ENSG00000005007 60 0 0 41 13 24.0741 ARMC6 0 genome.wustl.edu 37 19 19162542 19162542 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 19162542 19162542 G A SNP ARMC6 ENST00000392336 human ensembl 74_37 +1 known missense c.391 p.A131T 1.000 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC6 HGNC ENSG00000105676 90 0 0 66 27 29.0323 GATAD2A 0 genome.wustl.edu 37 19 19613277 19613277 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 19613277 19613277 C T SNP GATAD2A ENST00000358713 human ensembl 74_37 +1 known silent c.1713 p.T571 0.000 NULL pfam_Znf_GATA,pfscan_Znf_GATA - no_errors GATAD2A HGNC ENSG00000167491 169 0 0 131 47 26.4045 ZNF708 0 genome.wustl.edu 37 19 21476609 21476609 + Missense_Mutation SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 21476609 21476609 T C SNP ZNF708 ENST00000356929 human ensembl 74_37 -1 known missense c.1159 p.T387A 1.000 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 ZNF708 HGNC ENSG00000182141 84 0 0 71 23 24.4681 ZNF208 0 genome.wustl.edu 37 19 22155740 22155740 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 22155740 22155740 C T SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.2096 p.G699D 0.615 pfam_Znf_C2H2,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 ZNF208 HGNC ENSG00000160321 80 0 0 70 18 20.4545 SPPL2B 0 genome.wustl.edu 37 19 2340969 2340969 + RNA SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 2340969 2340969 G A SNP SPPL2B ENST00000382189 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SPPL2B HGNC ENSG00000005206 67 0 0 60 13 17.8082 ZNF91 0 genome.wustl.edu 37 19 23544326 23544326 + Silent SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 23544326 23544326 A G SNP ZNF91 ENST00000300619 human ensembl 74_37 -1 known silent c.1455 p.T485 0.998 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 ZNF91 HGNC ENSG00000167232 92 0 0 72 30 29.4118 THOP1 0 genome.wustl.edu 37 19 2790516 2790516 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 2790516 2790516 G T SNP THOP1 ENST00000307741 human ensembl 74_37 +1 known missense c.114 p.R38S 0.024 NULL pfam_Pept_M3A_M3B - no_errors THOP1 HGNC ENSG00000172009 116 0 0 83 7 7.77778 ZNF556 0 genome.wustl.edu 37 19 2878023 2878023 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 2878023 2878023 G A SNP ZNF556 ENST00000307635 human ensembl 74_37 +1 known missense c.1067 p.R356H 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 ZNF556 HGNC ENSG00000172000 40 0 0 37 10 21.2766 ZNF536 0 genome.wustl.edu 37 19 31039848 31039848 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 31039848 31039848 C A SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.3322 p.P1108T 0.580 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 81 0 0 48 17 26.1538 TBXA2R 0 genome.wustl.edu 37 19 3600462 3600462 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 3600462 3600462 C T SNP TBXA2R ENST00000411851 human ensembl 74_37 -1 known silent c.171 p.S57 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn - no_errors TBXA2R HGNC ENSG00000006638 37 0 0 24 14 36.8421 GAPDHS 0 genome.wustl.edu 37 19 36034314 36034314 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 36034314 36034314 C T SNP GAPDHS ENST00000222286 human ensembl 74_37 +1 known missense c.814 p.R272W 0.992 pirsf_GlycerAld/Erythrose_P_DH,pfam_GlycerAld_3-P_DH_cat,tigrfam_Glyceraldehyde-3-P_DH_1 pirsf_GlycerAld/Erythrose_P_DH,pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 - no_errors GAPDHS HGNC ENSG00000105679 162 0 0 99 35 26.1194 KMT2B 0 genome.wustl.edu 37 19 36214078 36214078 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 36214078 36214078 C T SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known silent c.2904 p.H968 0.400 pirsf_MeTrfase_trithorax,pfam_Znf_CXXC,pfscan_Znf_CXXC pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 82 0 0 74 6 7.5 ZNF420 0 genome.wustl.edu 37 19 37619350 37619350 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 37619350 37619350 G A SNP ZNF420 ENST00000337995 human ensembl 74_37 +1 known missense c.1457 p.R486H 0.000 pfam_Znf_C2H2,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 ZNF420 HGNC ENSG00000197050 48 0 0 42 11 20.7547 RYR1 0 genome.wustl.edu 37 19 38939141 38939141 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 38939141 38939141 G A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.947 p.R316H 1.000 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif 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 157 0 0 101 55 35.2564 ZNF546 0 genome.wustl.edu 37 19 40520059 40520059 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 40520059 40520059 A G SNP ZNF546 ENST00000347077 human ensembl 74_37 +1 known missense c.882 p.I294M 0.633 pfam_Znf_C2H2,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 ZNF546 HGNC ENSG00000187187 119 0 0 92 5 5.15464 ZNF780A 0 genome.wustl.edu 37 19 40581329 40581329 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 40581329 40581329 C A SNP ZNF780A ENST00000455521 human ensembl 74_37 -1 known missense c.1023 p.K341N 0.888 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 ZNF780A HGNC ENSG00000197782 110 0 0 95 34 26.3566 CYP2B6 0 genome.wustl.edu 37 19 41515274 41515274 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 41515274 41515274 G A SNP CYP2B6 ENST00000324071 human ensembl 74_37 +1 known missense c.796 p.D266N 0.832 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2A-like - no_errors CYP2B6 HGNC ENSG00000197408 73 0 0 37 37 50 BCKDHA 0 genome.wustl.edu 37 19 41928571 41928571 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 41928571 41928571 C T SNP BCKDHA ENST00000595085 human ensembl 74_37 +1 known silent c.993 p.R331 0.008 pfam_DH_E1,pfam_Transketolase_N pfam_DH_E1,pfam_Transketolase_N - no_errors BCKDHA HGNC ENSG00000248098 132 0 0 88 30 25.4237 CEACAM5 0 genome.wustl.edu 37 19 42221555 42221555 + Silent SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 42221555 42221555 A G SNP CEACAM5 ENST00000221992 human ensembl 74_37 +1 known silent c.1140 p.L380 0.009 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_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM5 HGNC ENSG00000105388 261 1 0.381679 174 83 32.2957 CIC 0 genome.wustl.edu 37 19 42791776 42791776 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 42791776 42791776 G A SNP CIC ENST00000575354 human ensembl 74_37 +1 known missense c.662 p.R221H 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 101 0 0 69 26 27.3684 XRCC1 0 genome.wustl.edu 37 19 44056177 44056177 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 44056177 44056177 C T SNP XRCC1 ENST00000262887 human ensembl 74_37 -1 known silent c.1074 p.T358 0.992 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_Xrcc1_N,pfam_BRCT_dom,superfamily_Galactose-bd-like,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors XRCC1 HGNC ENSG00000073050 132 0 0 104 43 29.2517 ZNF234 0 genome.wustl.edu 37 19 44660800 44660800 + Nonsense_Mutation SNP A A T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 44660800 44660800 A T SNP ZNF234 ENST00000426739 human ensembl 74_37 +1 known nonsense c.631 p.K211* 0.584 pfam_Znf_C2H2,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 ZNF234 HGNC ENSG00000263002 169 0 0 173 20 10.3627 ZNF226 0 genome.wustl.edu 37 19 44680402 44680402 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 44680402 44680402 C T SNP ZNF226 ENST00000337433 human ensembl 74_37 +1 known silent c.987 p.H329 0.313 pfam_Znf_C2H2,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 ZNF226 HGNC ENSG00000167380 80 0 0 75 22 22.6804 ZNF235 0 genome.wustl.edu 37 19 44792700 44792700 + Silent SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 44792700 44792700 A G SNP ZNF235 ENST00000291182 human ensembl 74_37 -1 known silent c.888 p.H296 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 ZNF235 HGNC ENSG00000159917 70 0 0 66 27 29.0323 CLPTM1 0 genome.wustl.edu 37 19 45490487 45490487 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 45490487 45490487 A G SNP CLPTM1 ENST00000337392 human ensembl 74_37 +1 known missense c.844 p.N282D 1.000 pfam_CLPTM1 pfam_CLPTM1 - no_errors CLPTM1 HGNC ENSG00000104853 266 0 0 159 71 30.8696 PPP1R13L 0 genome.wustl.edu 37 19 45899977 45899977 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 45899977 45899977 G A SNP PPP1R13L ENST00000360957 human ensembl 74_37 -1 known missense c.538 p.R180C 0.897 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13L HGNC ENSG00000104881 16 0 0 12 8 40 RSPH6A 0 genome.wustl.edu 37 19 46299145 46299145 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 46299145 46299145 G A SNP RSPH6A ENST00000221538 human ensembl 74_37 -1 known silent c.2136 p.G712 0.239 NULL pfam_Radial_spoke - no_errors RSPH6A HGNC ENSG00000104941 132 0 0 132 19 12.5828 FKRP 0 genome.wustl.edu 37 19 47259842 47259842 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 47259842 47259842 C T SNP FKRP ENST00000318584 human ensembl 74_37 +1 known missense c.1135 p.R379W 1.000 pfam_LicD pfam_LicD - no_errors FKRP HGNC ENSG00000181027 24 0 0 15 5 25 NPAS1 0 genome.wustl.edu 37 19 47535965 47535965 + Missense_Mutation SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 47535965 47535965 T C SNP NPAS1 ENST00000449844 human ensembl 74_37 +1 known missense c.497 p.V166A 1.000 pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors NPAS1 HGNC ENSG00000130751 101 0 0 84 29 25.6637 ZC3H4 0 genome.wustl.edu 37 19 47569698 47569698 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 47569698 47569698 G A SNP ZC3H4 ENST00000253048 human ensembl 74_37 -1 known missense c.3827 p.P1276L 0.999 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H4 HGNC ENSG00000130749 26 0 0 21 10 32.2581 TPRX1 0 genome.wustl.edu 37 19 48305502 48305502 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 48305502 48305502 G A SNP TPRX1 ENST00000535759 human ensembl 74_37 -1 known missense c.1057 p.P353S 0.013 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TPRX1 HGNC ENSG00000178928 17 0 0 16 5 23.8095 IL4I1 0 genome.wustl.edu 37 19 50399160 50399160 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 50399160 50399160 C A SNP IL4I1 ENST00000341114 human ensembl 74_37 -1 known missense c.230 p.R77L 0.004 pfam_AlaDH/PNT_NAD(H)-bd pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_AlaDH/PNT_NAD(H)-bd,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase - no_errors IL4I1 HGNC ENSG00000104951 175 0 0 137 36 20.8092 SIGLEC10 0 genome.wustl.edu 37 19 51914440 51914440 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 51914440 51914440 C T SNP SIGLEC10 ENST00000339313 human ensembl 74_37 -1 known silent c.2007 p.T669 0.004 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC10 HGNC ENSG00000142512 180 0 0 162 50 23.5849 PTPRS 0 genome.wustl.edu 37 19 5231455 5231455 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 5231455 5231455 A G SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known missense c.2024 p.I675T 0.995 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 56 0 0 43 18 29.5082 PTPRS 0 genome.wustl.edu 37 19 5239009 5239009 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 5239009 5239009 G A SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known silent c.1773 p.Y591 0.434 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 101 0 0 61 28 31.4607 ZNF841 0 genome.wustl.edu 37 19 52568436 52568436 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 52568436 52568436 G T SNP ZNF841 ENST00000389534 human ensembl 74_37 -1 known missense c.2699 p.A900D 0.160 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 ZNF841 HGNC ENSG00000197608 43 0 0 38 13 25.4902 ZNF702P 0 genome.wustl.edu 37 19 53472882 53472882 + RNA SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 53472882 53472882 A G SNP ZNF702P ENST00000270443 human ensembl 74_37 -1 known rna NULL NULL 0.300 - - - no_errors ZNF702P HGNC ENSG00000242779 16 0 0 17 4 19.0476 CDC34 0 genome.wustl.edu 37 19 535840 535840 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 535840 535840 C T SNP CDC34 ENST00000215574 human ensembl 74_37 +1 known missense c.181 p.R61C 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors CDC34 HGNC ENSG00000099804 371 0 0 259 99 27.6536 MYADM 0 genome.wustl.edu 37 19 54377349 54377349 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 54377349 54377349 C T SNP MYADM ENST00000336967 human ensembl 74_37 +1 known missense c.566 p.A189V 0.980 pfam_Marvel pfam_Marvel - no_errors MYADM HGNC ENSG00000179820 161 0 0 127 53 29.4444 LENG8 0 genome.wustl.edu 37 19 54965667 54965667 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 54965667 54965667 C T SNP LENG8 ENST00000326764 human ensembl 74_37 +1 known missense c.485 p.P162L 0.967 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors LENG8 HGNC ENSG00000167615 48 0 0 38 18 32.1429 NLRP8 0 genome.wustl.edu 37 19 56465980 56465980 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 56465980 56465980 G A SNP NLRP8 ENST00000291971 human ensembl 74_37 +1 known missense c.556 p.E186K 0.000 superfamily_P-loop_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP8 HGNC ENSG00000179709 113 0 0 80 24 23.0769 NLRP8 0 genome.wustl.edu 37 19 56477621 56477621 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 56477621 56477621 C T SNP NLRP8 ENST00000291971 human ensembl 74_37 +1 known silent c.2256 p.I752 0.001 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP8 HGNC ENSG00000179709 136 0 0 127 24 15.894 ZNF787 0 genome.wustl.edu 37 19 56600174 56600174 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 56600174 56600174 C T SNP ZNF787 ENST00000270459 human ensembl 74_37 -1 known missense c.367 p.A123T 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF787 HGNC ENSG00000142409 33 0 0 29 7 19.4444 ZNF667 0 genome.wustl.edu 37 19 56969550 56969550 + Missense_Mutation SNP T T A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 56969550 56969550 T A SNP ZNF667 ENST00000342634 human ensembl 74_37 -1 known missense c.506 p.E169V 0.010 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 ZNF667 HGNC ENSG00000198046 118 0 0 62 22 26.1905 ZNF460 0 genome.wustl.edu 37 19 57802483 57802483 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 57802483 57802483 C T SNP ZNF460 ENST00000360338 human ensembl 74_37 +1 known missense c.574 p.R192C 0.062 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 ZNF460 HGNC ENSG00000197714 106 0 0 97 9 8.49057 ZNF497 0 genome.wustl.edu 37 19 58868867 58868867 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 58868867 58868867 C T SNP ZNF497 ENST00000311044 human ensembl 74_37 -1 known silent c.135 p.T45 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF497 HGNC ENSG00000174586 37 0 0 35 3 7.89474 ZNF317 0 genome.wustl.edu 37 19 9271691 9271691 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 9271691 9271691 C T SNP ZNF317 ENST00000247956 human ensembl 74_37 +1 known missense c.1370 p.A457V 0.000 pfam_Znf_C2H2,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 ZNF317 HGNC ENSG00000130803 65 0 0 42 3 6.66667 ZNF812 0 genome.wustl.edu 37 19 9801898 9801898 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 9801898 9801898 A G SNP ZNF812 ENST00000457674 human ensembl 74_37 -1 novel missense c.281 p.V94A 0.000 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 ZNF812 HGNC ENSG00000224689 85 0 0 51 18 26.087 AFF3 0 genome.wustl.edu 37 2 100623462 100623462 + Missense_Mutation SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 100623462 100623462 T C SNP AFF3 ENST00000356421 human ensembl 74_37 -1 known missense c.580 p.R194G 0.947 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 68 0 0 46 22 32.3529 TBC1D8 0 genome.wustl.edu 37 2 101706808 101706808 + Missense_Mutation SNP A A C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 101706808 101706808 A C SNP TBC1D8 ENST00000409318 human ensembl 74_37 -1 known missense c.146 p.L49R 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8 HGNC ENSG00000204634 41 0 0 45 11 19.6429 ODC1 0 genome.wustl.edu 37 2 10582054 10582054 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 10582054 10582054 G A SNP ODC1 ENST00000234111 human ensembl 74_37 -1 known silent c.915 p.D305 1.000 pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase - no_errors ODC1 HGNC ENSG00000115758 128 0 0 87 38 30.4 SULT1C3 0 genome.wustl.edu 37 2 108872147 108872147 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 108872147 108872147 C T SNP SULT1C3 ENST00000329106 human ensembl 74_37 +1 known silent c.519 p.S173 0.014 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1C3 HGNC ENSG00000196228 61 0 0 38 20 34.4828 ATP6V1C2 0 genome.wustl.edu 37 2 10917839 10917839 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 10917839 10917839 C T SNP ATP6V1C2 ENST00000272238 human ensembl 74_37 +1 known silent c.954 p.G318 1.000 pfam_ATPase_V1-cplx_csu pfam_ATPase_V1-cplx_csu - no_errors ATP6V1C2 HGNC ENSG00000143882 128 1 0.775194 70 37 34.5794 EDAR 0 genome.wustl.edu 37 2 109513512 109513512 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 109513512 109513512 G A SNP EDAR ENST00000376651 human ensembl 74_37 -1 known missense c.1294 p.R432C 1.000 pfam_Death_domain,superfamily_DEATH-like_dom pfam_Death_domain,superfamily_DEATH-like_dom - no_errors EDAR HGNC ENSG00000135960 36 0 0 25 12 32.4324 KCNF1 0 genome.wustl.edu 37 2 11053303 11053303 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 11053303 11053303 G A SNP KCNF1 ENST00000295082 human ensembl 74_37 +1 known missense c.751 p.A251T 0.998 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv6 - no_errors KCNF1 HGNC ENSG00000162975 69 0 0 59 4 6.34921 DBI 0 genome.wustl.edu 37 2 120129887 120129887 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 120129887 120129887 G T SNP DBI ENST00000542275 human ensembl 74_37 +1 known missense c.440 p.G147V 1.000 superfamily_Acyl-CoA-binding_protein pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein - no_errors DBI HGNC ENSG00000155368 74 0 0 57 21 26.9231 PROC 0 genome.wustl.edu 37 2 128186242 128186242 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 128186242 128186242 C T SNP PROC ENST00000453608 human ensembl 74_37 +1 known missense c.1271 p.P424L 0.004 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1 - no_errors PROC HGNC ENSG00000115718 186 0 0 174 12 6.45161 UGGT1 0 genome.wustl.edu 37 2 128861559 128861559 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 128861559 128861559 G A SNP UGGT1 ENST00000259253 human ensembl 74_37 +1 known missense c.248 p.S83N 1.000 NULL pfam_UDP-g_GGtrans - no_errors UGGT1 HGNC ENSG00000136731 163 0 0 137 9 6.16438 NEB 0 genome.wustl.edu 37 2 152521935 152521935 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 152521935 152521935 C T SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.5150 p.R1717H 1.000 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 44 0 0 42 14 25 ACVR1 0 genome.wustl.edu 37 2 158655948 158655948 + Missense_Mutation SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 158655948 158655948 T C SNP ACVR1 ENST00000263640 human ensembl 74_37 -1 known missense c.58 p.S20G 0.950 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors ACVR1 HGNC ENSG00000115170 85 0 0 45 14 23.7288 SLC4A10 0 genome.wustl.edu 37 2 162696414 162696414 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 162696414 162696414 C T SNP SLC4A10 ENST00000446997 human ensembl 74_37 +1 known silent c.393 p.D131 1.000 superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A10 HGNC ENSG00000144290 126 0 0 106 32 23.1884 XIRP2 0 genome.wustl.edu 37 2 167760304 167760304 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 167760304 167760304 G A SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known silent c.312 p.R104 0.024 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 77 0 0 81 5 5.81395 SLC25A12 0 genome.wustl.edu 37 2 172650198 172650198 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 172650198 172650198 G A SNP SLC25A12 ENST00000422440 human ensembl 74_37 -1 known missense c.1385 p.T462M 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A12 HGNC ENSG00000115840 86 0 0 68 25 26.8817 EVX2 0 genome.wustl.edu 37 2 176948324 176948324 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 176948324 176948324 C T SNP EVX2 ENST00000308618 human ensembl 74_37 -1 known missense c.181 p.A61T 0.992 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Antifreeze_1,prints_Homeobox_metazoa - no_errors EVX2 HGNC ENSG00000174279 60 0 0 38 20 34.4828 PDE11A 0 genome.wustl.edu 37 2 178879182 178879182 + Silent SNP T T G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 178879182 178879182 T G SNP PDE11A ENST00000286063 human ensembl 74_37 -1 known silent c.918 p.R306 0.989 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE11A HGNC ENSG00000128655 41 0 0 16 11 40.7407 TTN 0 genome.wustl.edu 37 2 179395856 179395856 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 179395856 179395856 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.97782 p.W32594C 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 273 0 0 280 29 9.38511 TTN 0 genome.wustl.edu 37 2 179446658 179446658 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 179446658 179446658 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.58734 p.K19578N 0.998 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 80 0 0 63 29 31.5217 TTN 0 genome.wustl.edu 37 2 179485026 179485026 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 179485026 179485026 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.38518 p.A12840T 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 155 0 0 120 33 21.5686 TTN 0 genome.wustl.edu 37 2 179596909 179596909 + Missense_Mutation SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 179596909 179596909 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.13055 p.E4352G 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 258 0 0 168 89 34.6304 TTN 0 genome.wustl.edu 37 2 179611344 179611344 + Missense_Mutation SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 179611344 179611344 T C SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.15783 p.I5261M 0.993 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 72 0 0 50 22 30.5556 SSFA2 0 genome.wustl.edu 37 2 182763754 182763754 + Nonsense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 182763754 182763754 G A SNP SSFA2 ENST00000416081 human ensembl 74_37 +1 known nonsense c.96 p.W32* 1.000 NULL NULL - no_errors SSFA2 HGNC ENSG00000138434 79 0 0 35 11 23.913 GTF3C3 0 genome.wustl.edu 37 2 197645348 197645348 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 197645348 197645348 G A SNP GTF3C3 ENST00000263956 human ensembl 74_37 -1 known missense c.1153 p.P385S 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GTF3C3 HGNC ENSG00000119041 65 0 0 47 14 22.9508 MARS2 0 genome.wustl.edu 37 2 198571290 198571290 + Silent SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 198571290 198571290 T C SNP MARS2 ENST00000282276 human ensembl 74_37 +1 known silent c.1161 p.Y387 0.938 pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Met-tRNA_synth pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth - no_errors MARS2 HGNC ENSG00000247626 352 0 0 230 112 32.7485 BMPR2 0 genome.wustl.edu 37 2 203384918 203384918 + Nonsense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 203384918 203384918 C T SNP BMPR2 ENST00000374580 human ensembl 74_37 +1 known nonsense c.961 p.R321* 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,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMPR2 HGNC ENSG00000204217 40 0 0 52 5 8.77193 FAM117B 0 genome.wustl.edu 37 2 203622055 203622055 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 203622055 203622055 C T SNP FAM117B ENST00000392238 human ensembl 74_37 +1 known silent c.1224 p.S408 1.000 NULL NULL - no_errors FAM117B HGNC ENSG00000138439 85 0 0 66 23 25.8427 ZDBF2 0 genome.wustl.edu 37 2 207171079 207171079 + Missense_Mutation SNP A A C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 207171079 207171079 A C SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known missense c.1827 p.Q609H 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 84 0 0 56 27 32.5301 MDH1B 0 genome.wustl.edu 37 2 207619812 207619812 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 207619812 207619812 G A SNP MDH1B ENST00000374412 human ensembl 74_37 -1 known silent c.831 p.H277 0.554 NULL pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C - no_errors MDH1B HGNC ENSG00000138400 89 0 0 68 22 24.4444 HS1BP3 0 genome.wustl.edu 37 2 20845146 20845146 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 20845146 20845146 G A SNP HS1BP3 ENST00000304031 human ensembl 74_37 -1 known missense c.152 p.A51V 0.527 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors HS1BP3 HGNC ENSG00000118960 85 0 0 62 30 32.6087 PTH2R 0 genome.wustl.edu 37 2 209358433 209358433 + RNA SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 209358433 209358433 G A SNP PTH2R ENST00000413482 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PTH2R HGNC ENSG00000144407 64 0 0 70 24 25.5319 UNC80 0 genome.wustl.edu 37 2 210642074 210642074 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 210642074 210642074 C T SNP UNC80 ENST00000439458 human ensembl 74_37 +1 known missense c.391 p.R131W 0.650 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 118 0 0 81 34 29.5652 CPS1 0 genome.wustl.edu 37 2 211471488 211471488 + Missense_Mutation SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 211471488 211471488 T C SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known missense c.2033 p.L678P 0.995 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 85 0 0 61 22 26.506 ERBB4 0 genome.wustl.edu 37 2 212286760 212286760 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 212286760 212286760 C T SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.2936 p.R979Q 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 86 0 0 50 16 24.2424 APOB 0 genome.wustl.edu 37 2 21241915 21241915 + Missense_Mutation SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 21241915 21241915 T C SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.3070 p.R1024G 0.993 pfam_Lipid_transpt_open_b-sht pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 82 0 0 57 36 38.7097 SPAG16 0 genome.wustl.edu 37 2 215274982 215274982 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 215274982 215274982 C T SNP SPAG16 ENST00000331683 human ensembl 74_37 +1 known silent c.1839 p.H613 0.001 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors SPAG16 HGNC ENSG00000144451 143 0 0 123 36 22.6415 TNS1 0 genome.wustl.edu 37 2 218713077 218713077 + Silent SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 218713077 218713077 G T SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known silent c.1788 p.P596 0.079 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 93 0 0 97 23 19.1667 CXCR2 0 genome.wustl.edu 37 2 218999632 218999632 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 218999632 218999632 C T SNP CXCR2 ENST00000318507 human ensembl 74_37 +1 known silent c.108 p.A36 0.000 prints_Chemokine_CXCR_1/2 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR2,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CXCR2 HGNC ENSG00000180871 221 0 0 164 59 26.4574 C2orf62 0 genome.wustl.edu 37 2 219227555 219227555 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 219227555 219227555 G A SNP C2orf62 ENST00000289388 human ensembl 74_37 +1 known missense c.560 p.R187Q 0.246 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C2orf62 HGNC ENSG00000158428 64 0 0 64 7 9.85915 RNF25 0 genome.wustl.edu 37 2 219529955 219529955 + Nonsense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 219529955 219529955 G A SNP RNF25 ENST00000295704 human ensembl 74_37 -1 known nonsense c.589 p.Q197* 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_RING,pfscan_RWD-domain,pfscan_Znf_RING - no_errors RNF25 HGNC ENSG00000163481 77 0 0 62 5 7.46269 CRYBA2 0 genome.wustl.edu 37 2 219857874 219857874 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 219857874 219857874 G A SNP CRYBA2 ENST00000295728 human ensembl 74_37 -1 known missense c.25 p.P9S 0.034 NULL pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBA2 HGNC ENSG00000163499 21 0 0 15 8 34.7826 ANKZF1 0 genome.wustl.edu 37 2 220100486 220100486 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 220100486 220100486 G A SNP ANKZF1 ENST00000323348 human ensembl 74_37 +1 known silent c.1860 p.E620 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKZF1 HGNC ENSG00000163516 125 0 0 118 14 10.6061 DNAJB2 0 genome.wustl.edu 37 2 220149476 220149476 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 220149476 220149476 G A SNP DNAJB2 ENST00000336576 human ensembl 74_37 +1 known missense c.742 p.D248N 0.376 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB2 HGNC ENSG00000135924 34 0 0 27 12 30.7692 GMPPA 0 genome.wustl.edu 37 2 220364856 220364856 + Silent SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 220364856 220364856 A G SNP GMPPA ENST00000313597 human ensembl 74_37 +1 known silent c.54 p.R18 1.000 pfam_NTP_transferase pfam_NTP_transferase - no_errors GMPPA HGNC ENSG00000144591 19 0 0 16 5 23.8095 GMPPA 0 genome.wustl.edu 37 2 220370238 220370238 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 220370238 220370238 C T SNP GMPPA ENST00000313597 human ensembl 74_37 +1 known missense c.814 p.R272W 1.000 NULL pfam_NTP_transferase - no_errors GMPPA HGNC ENSG00000144591 8 0 0 9 6 40 TMEM198 0 genome.wustl.edu 37 2 220413997 220413997 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 220413997 220413997 C A SNP TMEM198 ENST00000344458 human ensembl 74_37 +1 known missense c.866 p.P289H 0.994 NULL NULL - no_errors TMEM198 HGNC ENSG00000188760 73 0 0 70 19 21.3483 CUL3 0 genome.wustl.edu 37 2 225400346 225400346 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 225400346 225400346 C T SNP CUL3 ENST00000264414 human ensembl 74_37 -1 known missense c.277 p.V93I 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL3 HGNC ENSG00000036257 53 0 0 43 13 23.2143 ALPI 0 genome.wustl.edu 37 2 233321901 233321901 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 233321901 233321901 G A SNP ALPI ENST00000295463 human ensembl 74_37 +1 known missense c.517 p.A173T 1.000 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPI HGNC ENSG00000163295 102 0 0 84 9 9.67742 SH3BP4 0 genome.wustl.edu 37 2 235943690 235943690 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 235943690 235943690 C A SNP SH3BP4 ENST00000344528 human ensembl 74_37 +1 known missense c.44 p.P15H 0.997 NULL pfam_SH3_2,pfam_SH3_domain,pfam_ZU5,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors SH3BP4 HGNC ENSG00000130147 75 0 0 44 19 30.1587 GPC1 0 genome.wustl.edu 37 2 241398563 241398563 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 241398563 241398563 G A SNP GPC1 ENST00000264039 human ensembl 74_37 +1 known missense c.283 p.V95I 0.995 pfam_Glypican pfam_Glypican - no_errors GPC1 HGNC ENSG00000063660 39 0 0 24 18 42.8571 PASK 0 genome.wustl.edu 37 2 242080060 242080060 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 242080060 242080060 C T SNP PASK ENST00000358649 human ensembl 74_37 -1 known missense c.305 p.R102Q 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAS_fold,superfamily_Kinase-like_dom,superfamily_PAS,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_dom,tigrfam_PAS - no_errors PASK HGNC ENSG00000115687 62 0 0 37 12 24.4898 SLC35F6 0 genome.wustl.edu 37 2 26999343 26999343 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 26999343 26999343 C T SNP SLC35F6 ENST00000344420 human ensembl 74_37 +1 known silent c.639 p.G213 1.000 pfam_SLC35_F1/F2/F6,pfam_Tpt_PEP_trans_dom,pfam_UAA,pirsf_UCP036436 pfam_SLC35_F1/F2/F6,pfam_Nuc_sug_transpt,pfam_DMT,pfam_Tpt_PEP_trans_dom,pfam_UAA,pirsf_UCP036436 - no_errors SLC35F6 HGNC ENSG00000213699 53 0 0 34 17 33.3333 SLC5A6 0 genome.wustl.edu 37 2 27424654 27424654 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 27424654 27424654 A G SNP SLC5A6 ENST00000310574 human ensembl 74_37 -1 known missense c.1424 p.I475T 0.957 pfscan_Na/solute_symporter pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A6 HGNC ENSG00000138074 66 0 0 45 14 23.7288 CLIP4 0 genome.wustl.edu 37 2 29404513 29404513 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 29404513 29404513 C T SNP CLIP4 ENST00000320081 human ensembl 74_37 +1 known silent c.1872 p.H624 0.998 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP4 HGNC ENSG00000115295 97 0 0 87 6 6.45161 GALNT14 0 genome.wustl.edu 37 2 31215869 31215869 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 31215869 31215869 G A SNP GALNT14 ENST00000349752 human ensembl 74_37 -1 known missense c.134 p.S45L 0.010 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT14 HGNC ENSG00000158089 38 0 0 33 7 17.5 SLC30A6 0 genome.wustl.edu 37 2 32422847 32422847 + Missense_Mutation SNP T T A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 32422847 32422847 T A SNP SLC30A6 ENST00000282587 human ensembl 74_37 +1 known missense c.617 p.L206H 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A6 HGNC ENSG00000152683 127 1 0.78125 109 11 9.16667 EIF2AK2 0 genome.wustl.edu 37 2 37349801 37349801 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 37349801 37349801 C T SNP EIF2AK2 ENST00000233057 human ensembl 74_37 -1 known silent c.915 p.A305 0.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_dsRNA-bd_dom,superfamily_Kinase-like_dom,smart_dsRNA-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_dsRNA-bd_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EIF2AK2 HGNC ENSG00000055332 74 0 0 74 22 22.9167 TMEM178A 0 genome.wustl.edu 37 2 39944243 39944243 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 39944243 39944243 A G SNP TMEM178A ENST00000281961 human ensembl 74_37 +1 known missense c.746 p.D249G 1.000 NULL NULL - no_errors TMEM178A HGNC ENSG00000152154 225 0 0 156 62 28.4404 OXER1 0 genome.wustl.edu 37 2 42990086 42990086 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 42990086 42990086 C T SNP OXER1 ENST00000378661 human ensembl 74_37 -1 known missense c.1234 p.E412K 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors OXER1 HGNC ENSG00000162881 93 0 0 66 27 29.0323 PLEKHH2 0 genome.wustl.edu 37 2 43956822 43956822 + Missense_Mutation SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 43956822 43956822 T C SNP PLEKHH2 ENST00000282406 human ensembl 74_37 +1 known missense c.2768 p.V923A 0.060 NULL pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH2 HGNC ENSG00000152527 41 0 0 26 16 38.0952 NRXN1 0 genome.wustl.edu 37 2 50280726 50280726 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 50280726 50280726 G A SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.3787 p.R1263C 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 66 0 0 42 21 33.3333 SPTBN1 0 genome.wustl.edu 37 2 54839322 54839322 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 54839322 54839322 C T SNP SPTBN1 ENST00000356805 human ensembl 74_37 +1 known missense c.325 p.R109C 1.000 pirsf_Spectrin_bsu,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 119 0 0 94 9 8.73786 BCL11A 0 genome.wustl.edu 37 2 60688221 60688221 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 60688221 60688221 G A SNP BCL11A ENST00000335712 human ensembl 74_37 -1 known missense c.1826 p.P609L 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11A HGNC ENSG00000119866 49 0 0 43 24 35.8209 TMEM17 0 genome.wustl.edu 37 2 62729851 62729851 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 62729851 62729851 C A SNP TMEM17 ENST00000335390 human ensembl 74_37 -1 known missense c.179 p.S60I 1.000 pfam_Uncharacterised_TM-17 pfam_Uncharacterised_TM-17 - no_errors TMEM17 HGNC ENSG00000186889 134 0 0 89 25 21.9298 FBXO41 0 genome.wustl.edu 37 2 73490893 73490893 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 73490893 73490893 C T SNP FBXO41 ENST00000295133 human ensembl 74_37 -1 known missense c.2171 p.R724H 1.000 NULL superfamily_F-box_dom - no_errors FBXO41 HGNC ENSG00000163013 85 0 0 77 10 11.4943 ALMS1 0 genome.wustl.edu 37 2 73799651 73799651 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 73799651 73799651 C T SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known silent c.10644 p.S3548 0.815 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 37 0 0 18 9 33.3333 ASAP2 0 genome.wustl.edu 37 2 9531279 9531279 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 9531279 9531279 G A SNP ASAP2 ENST00000281419 human ensembl 74_37 +1 known silent c.2472 p.P824 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP2 HGNC ENSG00000151693 183 1 0.543478 137 58 29.7436 PROM2 0 genome.wustl.edu 37 2 95952596 95952596 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 95952596 95952596 G A SNP PROM2 ENST00000317620 human ensembl 74_37 +1 known silent c.2085 p.P695 0.003 pfam_Prominin pfam_Prominin - no_errors PROM2 HGNC ENSG00000155066 59 0 0 44 4 8.33333 DZANK1 0 genome.wustl.edu 37 20 18365044 18365044 + Nonstop_Mutation SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 18365044 18365044 T C SNP DZANK1 ENST00000262547 human ensembl 74_37 -1 known nonstop c.2258 p.*753W 0.000 NULL superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors DZANK1 HGNC ENSG00000089091 20 0 0 30 4 11.7647 TGM6 0 genome.wustl.edu 37 20 2378642 2378642 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 2378642 2378642 G A SNP TGM6 ENST00000202625 human ensembl 74_37 +1 known missense c.622 p.V208M 0.928 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM6 HGNC ENSG00000166948 87 0 0 34 32 48.4848 ACSS1 0 genome.wustl.edu 37 20 25038512 25038512 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 25038512 25038512 A G SNP ACSS1 ENST00000323482 human ensembl 74_37 -1 known missense c.227 p.L76P 0.996 tigrfam_Ac_CoA_lig pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig - no_errors ACSS1 HGNC ENSG00000154930 62 0 0 66 25 27.4725 NOP56 0 genome.wustl.edu 37 20 2635586 2635586 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 2635586 2635586 C T SNP NOP56 ENST00000329276 human ensembl 74_37 +1 known missense c.562 p.R188C 1.000 pfam_NOSIC,smart_NOSIC pfam_Nop_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC - no_errors NOP56 HGNC ENSG00000101361 141 1 0.704225 154 34 18.0851 MYLK2 0 genome.wustl.edu 37 20 30419926 30419926 + Missense_Mutation SNP A A T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 30419926 30419926 A T SNP MYLK2 ENST00000375985 human ensembl 74_37 +1 known missense c.1697 p.K566M 1.000 superfamily_Kinase-like_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 MYLK2 HGNC ENSG00000101306 24 0 0 25 6 19.3548 TTLL9 0 genome.wustl.edu 37 20 30497561 30497561 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 30497561 30497561 G A SNP TTLL9 ENST00000375938 human ensembl 74_37 +1 known missense c.340 p.V114M 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL9 HGNC ENSG00000131044 30 0 0 38 10 20.8333 TM9SF4 0 genome.wustl.edu 37 20 30730868 30730868 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 30730868 30730868 C T SNP TM9SF4 ENST00000398022 human ensembl 74_37 +1 known silent c.612 p.V204 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF4 HGNC ENSG00000101337 86 0 0 87 9 9.375 TM9SF4 0 genome.wustl.edu 37 20 30734633 30734633 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 30734633 30734633 C T SNP TM9SF4 ENST00000398022 human ensembl 74_37 +1 known missense c.929 p.A310V 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF4 HGNC ENSG00000101337 49 0 0 37 6 13.9535 CBFA2T2 0 genome.wustl.edu 37 20 32232401 32232401 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 32232401 32232401 G A SNP CBFA2T2 ENST00000346541 human ensembl 74_37 +1 known silent c.1764 p.S588 0.009 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTGR1 - no_errors CBFA2T2 HGNC ENSG00000078699 131 0 0 114 48 29.6296 RALY 0 genome.wustl.edu 37 20 32660136 32660136 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 32660136 32660136 G T SNP RALY ENST00000246194 human ensembl 74_37 +1 known missense c.256 p.D86Y 1.000 smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors RALY HGNC ENSG00000125970 81 0 0 91 21 18.75 RALY 0 genome.wustl.edu 37 20 32664877 32664877 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 32664877 32664877 C T SNP RALY ENST00000246194 human ensembl 74_37 +1 known silent c.702 p.G234 0.000 pirsf_hnRNP_C_Raly pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors RALY HGNC ENSG00000125970 35 0 0 25 6 19.3548 PHF20 0 genome.wustl.edu 37 20 34526919 34526919 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 34526919 34526919 G A SNP PHF20 ENST00000374012 human ensembl 74_37 +1 known silent c.2601 p.A867 0.003 NULL pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_C2H2 - no_errors PHF20 HGNC ENSG00000025293 66 0 0 68 26 27.6596 EPB41L1 0 genome.wustl.edu 37 20 34785928 34785928 + Missense_Mutation SNP C C G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 34785928 34785928 C G SNP EPB41L1 ENST00000338074 human ensembl 74_37 +1 known missense c.1633 p.P545A 0.949 pirsf_Band_41_protein pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB_dom,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L1 HGNC ENSG00000088367 82 0 0 80 18 18.3673 CENPB 0 genome.wustl.edu 37 20 3765853 3765853 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 3765853 3765853 C A SNP CENPB ENST00000379751 human ensembl 74_37 -1 known missense c.1278 p.E426D 1.000 NULL pfam_Centromere_CenpB_dimerisation,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors CENPB HGNC ENSG00000125817 15 0 0 13 6 31.5789 PLCG1 0 genome.wustl.edu 37 20 39798904 39798904 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 39798904 39798904 G A SNP PLCG1 ENST00000244007 human ensembl 74_37 +1 known missense c.2803 p.A935T 1.000 superfamily_PLC-like_Pdiesterase_TIM-brl,pirsf_PLC-gamma pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_dom,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2 - no_errors PLCG1 HGNC ENSG00000124181 62 0 0 62 15 19.4805 CHD6 0 genome.wustl.edu 37 20 40081514 40081514 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 40081514 40081514 G A SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known silent c.3189 p.D1063 0.976 superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 86 0 0 81 27 25 TOX2 0 genome.wustl.edu 37 20 42693445 42693445 + Missense_Mutation SNP A A C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 42693445 42693445 A C SNP TOX2 ENST00000341197 human ensembl 74_37 +1 known missense c.908 p.K303T 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX2 HGNC ENSG00000124191 184 0 0 138 42 23.3333 EPPIN-WFDC6 0 genome.wustl.edu 37 20 44171359 44171359 + Missense_Mutation SNP A A C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 44171359 44171359 A C SNP EPPIN-WFDC6 ENST00000504988 human ensembl 74_37 -1 known missense c.371 p.L124R 0.366 pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m pfam_Prot_inh_Kunz-m,pfam_WAP-type_4-diS_core,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors EPPIN-WFDC6 HGNC ENSG00000249139 185 0 0 195 43 18.0672 ARFGEF2 0 genome.wustl.edu 37 20 47592562 47592562 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 47592562 47592562 G T SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known missense c.1784 p.R595M 0.990 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 48 0 0 43 14 24.5614 STAU1 0 genome.wustl.edu 37 20 47734557 47734557 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 47734557 47734557 G A SNP STAU1 ENST00000371856 human ensembl 74_37 -1 known silent c.1266 p.P422 0.411 NULL pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors STAU1 HGNC ENSG00000124214 174 0 0 172 47 21.4612 PARD6B 0 genome.wustl.edu 37 20 49354499 49354499 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 49354499 49354499 G A SNP PARD6B ENST00000371610 human ensembl 74_37 +1 known missense c.172 p.V58I 0.987 pfam_OPR_PB1,smart_OPR_PB1 pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ - no_errors PARD6B HGNC ENSG00000124171 77 0 0 55 18 24.6575 ADNP 0 genome.wustl.edu 37 20 49510515 49510515 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 49510515 49510515 G A SNP ADNP ENST00000349014 human ensembl 74_37 -1 known missense c.736 p.R246C 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 77 0 0 73 18 19.7802 ATP9A 0 genome.wustl.edu 37 20 50346505 50346505 + Nonsense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 50346505 50346505 C T SNP ATP9A ENST00000338821 human ensembl 74_37 -1 known nonsense c.81 p.W27* 1.000 NULL 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 ATP9A HGNC ENSG00000054793 135 0 0 142 43 23.2432 CSTF1 0 genome.wustl.edu 37 20 54974190 54974190 + Missense_Mutation SNP T T A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 54974190 54974190 T A SNP CSTF1 ENST00000217109 human ensembl 74_37 +1 known missense c.813 p.N271K 0.944 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CSTF1 HGNC ENSG00000101138 168 0 0 180 60 25 PHACTR3 0 genome.wustl.edu 37 20 58420272 58420272 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 58420272 58420272 A G SNP PHACTR3 ENST00000371015 human ensembl 74_37 +1 known missense c.1616 p.Y539C 1.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR3 HGNC ENSG00000087495 28 0 0 20 3 13.0435 PPP1R3D 0 genome.wustl.edu 37 20 58514392 58514392 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 58514392 58514392 C T SNP PPP1R3D ENST00000370996 human ensembl 74_37 -1 known missense c.595 p.A199T 1.000 pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 - no_errors PPP1R3D HGNC ENSG00000132825 42 0 0 41 16 28.0702 CDH4 0 genome.wustl.edu 37 20 60509202 60509202 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 60509202 60509202 C T SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known missense c.2468 p.P823L 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 54 0 0 60 14 18.9189 ZBTB46 0 genome.wustl.edu 37 20 62421759 62421759 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 62421759 62421759 C T SNP ZBTB46 ENST00000245663 human ensembl 74_37 -1 known missense c.352 p.V118M 1.000 pfam_BTB_POZ,pfam_DUF3342,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB46 HGNC ENSG00000130584 43 0 0 35 19 35.1852 PLCB4 0 genome.wustl.edu 37 20 9449312 9449312 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 9449312 9449312 C T SNP PLCB4 ENST00000334005 human ensembl 74_37 +1 known missense c.3307 p.R1103W 1.000 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB4 HGNC ENSG00000101333 98 0 0 120 27 18.3673 MIRLET7C 0 genome.wustl.edu 37 21 17912163 17912163 + RNA SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 21 17912163 17912163 T C SNP MIRLET7C ENST00000362160 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIRLET7C HGNC ENSG00000199030 132 1 0.75188 73 32 30.4762 NCAM2 0 genome.wustl.edu 37 21 22849643 22849643 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 21 22849643 22849643 A G SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known missense c.1928 p.K643R 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 39 0 0 30 18 37.5 NCAM2 0 genome.wustl.edu 37 21 22881367 22881367 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 21 22881367 22881367 C T SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known missense c.2273 p.A758V 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 52 0 0 34 13 27.6596 LTN1 0 genome.wustl.edu 37 21 30339315 30339315 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 21 30339315 30339315 C T SNP LTN1 ENST00000389194 human ensembl 74_37 -1 known missense c.1636 p.A546T 0.000 superfamily_ARM-type_fold pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC ENSG00000198862 169 0 0 161 18 10.0559 KRTAP19-4 0 genome.wustl.edu 37 21 31869351 31869351 + Silent SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 21 31869351 31869351 G T SNP KRTAP19-4 ENST00000334058 human ensembl 74_37 -1 known silent c.78 p.G26 0.131 pfam_KRTAP_type6/8/16/19/20 pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP19-4 HGNC ENSG00000186967 219 0 0 183 70 27.668 GART 0 genome.wustl.edu 37 21 34889350 34889350 + Nonsense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 21 34889350 34889350 C A SNP GART ENST00000381815 human ensembl 74_37 -1 known nonsense c.2053 p.G685* 1.000 pfam_AIR_synth_C_dom,superfamily_AIR_synth_C_dom,tigrfam_PurM_cligase pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans - no_errors GART HGNC ENSG00000159131 146 0 0 106 25 19.084 ITSN1 0 genome.wustl.edu 37 21 35209291 35209291 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 21 35209291 35209291 G A SNP ITSN1 ENST00000381291 human ensembl 74_37 +1 known silent c.3662 p.*1221 1.000 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_P-loop_NTPase,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors ITSN1 HGNC ENSG00000205726 121 0 0 83 28 25.2252 RUNX1 0 genome.wustl.edu 37 21 36164838 36164838 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 21 36164838 36164838 C T SNP RUNX1 ENST00000300305 human ensembl 74_37 -1 known missense c.1037 p.R346H 1.000 pirsf_TF_Runt-rel_RUNX pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX1 HGNC ENSG00000159216 12 0 0 16 3 15.7895 B3GALT5 0 genome.wustl.edu 37 21 41032654 41032654 + Silent SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 21 41032654 41032654 T C SNP B3GALT5 ENST00000343118 human ensembl 74_37 +1 known silent c.168 p.P56 0.007 NULL pfam_Glyco_trans_31 - no_errors B3GALT5 HGNC ENSG00000183778 82 0 0 54 17 23.9437 MX2 0 genome.wustl.edu 37 21 42762585 42762585 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 21 42762585 42762585 C T SNP MX2 ENST00000330714 human ensembl 74_37 +1 known silent c.826 p.L276 0.645 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_P-loop_NTPase,superfamily_CH-domain,smart_Dynamin_GTPase,smart_GED,prints_Dynamin_SF - no_errors MX2 HGNC ENSG00000183486 130 0 0 78 53 40.458 MX1 0 genome.wustl.edu 37 21 42821193 42821193 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 21 42821193 42821193 C T SNP MX1 ENST00000398598 human ensembl 74_37 +1 known missense c.1403 p.P468L 0.999 pfam_Dynamin_central,superfamily_P-loop_NTPase pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_GED,prints_Dynamin_SF - no_errors MX1 HGNC ENSG00000157601 108 0 0 90 17 15.8879 UMODL1 0 genome.wustl.edu 37 21 43519071 43519071 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 21 43519071 43519071 G A SNP UMODL1 ENST00000408989 human ensembl 74_37 +1 known missense c.967 p.V323I 0.718 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom - no_errors UMODL1 HGNC ENSG00000177398 203 0 0 168 49 22.5806 KRTAP10-9 0 genome.wustl.edu 37 21 46048035 46048035 + RNA SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 21 46048035 46048035 C A SNP KRTAP10-9 ENST00000484861 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors KRTAP10-9 HGNC ENSG00000221837 44 0 0 46 15 24.5902 COL18A1 0 genome.wustl.edu 37 21 46925087 46925087 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 21 46925087 46925087 C T SNP COL18A1 ENST00000359759 human ensembl 74_37 +1 known missense c.4153 p.P1385S 0.992 NULL pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 25 0 0 15 3 16.6667 PEX26 0 genome.wustl.edu 37 22 18604386 18604386 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 22 18604386 18604386 C A SNP PEX26 ENST00000474897 human ensembl 74_37 +1 known missense c.512 p.P171H 0.999 NULL pfam_Pex26 - no_errors PEX26 HGNC ENSG00000215193 79 0 0 56 27 32.5301 DGCR2 0 genome.wustl.edu 37 22 19052470 19052470 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 22 19052470 19052470 G A SNP DGCR2 ENST00000263196 human ensembl 74_37 -1 known missense c.439 p.R147C 1.000 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_LDrepeatLR_classA_rpt,superfamily_C-type_lectin_fold,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_C-type_lectin,smart_VWF_C,pfscan_LDrepeatLR_classA_rpt,pfscan_C-type_lectin - no_errors DGCR2 HGNC ENSG00000070413 64 0 0 38 22 36.6667 TBX1 0 genome.wustl.edu 37 22 19752515 19752515 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 22 19752515 19752515 G A SNP TBX1 ENST00000329705 human ensembl 74_37 +1 known missense c.719 p.R240H 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX1 HGNC ENSG00000184058 97 0 0 74 24 24.4898 ARVCF 0 genome.wustl.edu 37 22 19969123 19969123 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 22 19969123 19969123 C T SNP ARVCF ENST00000263207 human ensembl 74_37 -1 known silent c.507 p.L169 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARVCF HGNC ENSG00000099889 68 0 0 69 16 18.8235 KLHL22 0 genome.wustl.edu 37 22 20800825 20800825 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 22 20800825 20800825 G A SNP KLHL22 ENST00000328879 human ensembl 74_37 -1 known missense c.1444 p.R482W 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL22 HGNC ENSG00000099910 102 1 0.970874 78 30 27.7778 HIC2 0 genome.wustl.edu 37 22 21799520 21799520 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 22 21799520 21799520 C T SNP HIC2 ENST00000407464 human ensembl 74_37 +1 known silent c.336 p.A112 0.001 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC2 HGNC ENSG00000169635 73 0 0 46 25 35.2113 PPM1F 0 genome.wustl.edu 37 22 22280022 22280022 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 22 22280022 22280022 C T SNP PPM1F ENST00000263212 human ensembl 74_37 -1 known missense c.905 p.R302H 1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1F HGNC ENSG00000100034 31 0 0 38 11 22.449 SMARCB1 0 genome.wustl.edu 37 22 24176339 24176339 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 22 24176339 24176339 G A SNP SMARCB1 ENST00000263121 human ensembl 74_37 +1 known missense c.1130 p.R377H 1.000 pirsf_SWI_SNF_chromatin_remodel_cplx pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx - no_errors SMARCB1 HGNC ENSG00000099956 13 0 0 9 2 18.1818 MYH9 0 genome.wustl.edu 37 22 36690176 36690176 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 22 36690176 36690176 C T SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known missense c.3799 p.V1267M 0.992 pfam_Myosin_tail,superfamily_STAT_TF_coiled-coil pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 117 0 0 91 34 27.2 TRIOBP 0 genome.wustl.edu 37 22 38119860 38119860 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 22 38119860 38119860 G A SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known missense c.1297 p.A433T 0.013 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 174 0 0 102 31 23.3083 DDX17 0 genome.wustl.edu 37 22 38882439 38882439 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 22 38882439 38882439 C T SNP DDX17 ENST00000396821 human ensembl 74_37 -1 known missense c.1697 p.R566H 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX17 HGNC ENSG00000100201 34 0 0 29 8 21.6216 DESI1 0 genome.wustl.edu 37 22 41999312 41999312 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 22 41999312 41999312 G A SNP DESI1 ENST00000263256 human ensembl 74_37 -1 known missense c.364 p.R122W 0.565 pfam_PPPDE_dom pfam_PPPDE_dom - no_errors DESI1 HGNC ENSG00000100418 137 0 0 100 34 25.3731 CYP2D6 0 genome.wustl.edu 37 22 42523547 42523547 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 22 42523547 42523547 C T SNP CYP2D6 ENST00000360608 human ensembl 74_37 -1 known missense c.1075 p.V359M 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2D-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2D6 HGNC ENSG00000100197 54 0 0 38 11 22.449 TCF20 0 genome.wustl.edu 37 22 42608372 42608372 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 22 42608372 42608372 C T SNP TCF20 ENST00000359486 human ensembl 74_37 -1 known silent c.2940 p.P980 0.003 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 131 0 0 110 27 19.708 FBLN1 0 genome.wustl.edu 37 22 45939288 45939288 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 22 45939288 45939288 C T SNP FBLN1 ENST00000327858 human ensembl 74_37 +1 known silent c.1203 p.N401 0.996 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,pirsf_Fibulin-1 pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,smart_Anaphylatoxin/fibulin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_Fibulin-1,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN1 HGNC ENSG00000077942 51 0 0 28 12 30 GRAMD4 0 genome.wustl.edu 37 22 47054103 47054103 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 22 47054103 47054103 G A SNP GRAMD4 ENST00000361034 human ensembl 74_37 +1 known silent c.303 p.L101 0.060 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD4 HGNC ENSG00000075240 71 0 0 41 12 22.6415 ZBED4 0 genome.wustl.edu 37 22 50279692 50279692 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 22 50279692 50279692 G A SNP ZBED4 ENST00000216268 human ensembl 74_37 +1 known silent c.2382 p.A794 0.994 superfamily_RNaseH-like_dom pfam_Znf_BED_prd,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED4 HGNC ENSG00000100426 21 0 0 19 8 29.6296 PANX2 0 genome.wustl.edu 37 22 50615930 50615930 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 22 50615930 50615930 G A SNP PANX2 ENST00000395842 human ensembl 74_37 +1 known silent c.789 p.A263 0.996 pfscan_Innexin pfam_Innexin,pfscan_Innexin - no_errors PANX2 HGNC ENSG00000073150 14 0 0 21 7 25 TMPRSS7 0 genome.wustl.edu 37 3 111766641 111766641 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 111766641 111766641 G A SNP TMPRSS7 ENST00000419127 human ensembl 74_37 +1 known silent c.408 p.L136 1.000 superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Peptidase_S1,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS7 HGNC ENSG00000176040 60 0 0 45 20 30.7692 SPICE1 0 genome.wustl.edu 37 3 113172563 113172563 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 113172563 113172563 G T SNP SPICE1 ENST00000295872 human ensembl 74_37 -1 known missense c.1892 p.S631Y 0.708 NULL NULL - no_errors SPICE1 HGNC ENSG00000163611 123 0 0 113 30 20.979 QTRTD1 0 genome.wustl.edu 37 3 113784223 113784223 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 113784223 113784223 G A SNP QTRTD1 ENST00000281273 human ensembl 74_37 +1 known missense c.119 p.G40D 1.000 superfamily_tRNA_ribo_trans-like pfam_tRNA_ribo_trans-like,superfamily_tRNA_ribo_trans-like,tigrfam_tRNA_ribo_trans-like - no_errors QTRTD1 HGNC ENSG00000151576 60 0 0 43 14 24.5614 POLQ 0 genome.wustl.edu 37 3 121207550 121207550 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 121207550 121207550 G T SNP POLQ ENST00000264233 human ensembl 74_37 -1 known missense c.4228 p.L1410M 0.000 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 82 0 0 54 24 30.7692 PARP9 0 genome.wustl.edu 37 3 122247346 122247346 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 122247346 122247346 G A SNP PARP9 ENST00000360356 human ensembl 74_37 -1 known silent c.2430 p.G810 0.000 pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP9 HGNC ENSG00000138496 100 0 0 66 26 28.2609 ALDH1L1 0 genome.wustl.edu 37 3 125873468 125873468 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 125873468 125873468 C T SNP ALDH1L1 ENST00000393434 human ensembl 74_37 -1 known missense c.649 p.A217T 1.000 pfam_Formyl_trans_C,superfamily_Formyl_transferase_C-like,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L1 HGNC ENSG00000144908 86 0 0 58 18 23.6842 PLXND1 0 genome.wustl.edu 37 3 129304808 129304808 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 129304808 129304808 C T SNP PLXND1 ENST00000324093 human ensembl 74_37 -1 known missense c.1838 p.R613H 0.574 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXND1 HGNC ENSG00000004399 216 0 0 181 66 26.7206 COL6A6 0 genome.wustl.edu 37 3 130300576 130300576 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 130300576 130300576 C A SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.3719 p.A1240D 1.000 smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 111 0 0 60 29 32.5843 DNAJC13 0 genome.wustl.edu 37 3 132175582 132175582 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 132175582 132175582 G A SNP DNAJC13 ENST00000260818 human ensembl 74_37 +1 known missense c.1255 p.V419I 1.000 NULL pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC13 HGNC ENSG00000138246 97 0 0 68 11 13.9241 SRPRB 0 genome.wustl.edu 37 3 133534433 133534433 + Splice_Site SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 133534433 133534433 G T SNP SRPRB ENST00000466490 human ensembl 74_37 +1 known splice_site c.411-1 e5-1 1.000 - - - no_errors SRPRB HGNC ENSG00000144867 354 0 0 298 96 24.3655 ZBTB38 0 genome.wustl.edu 37 3 141163525 141163525 + Silent SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 141163525 141163525 T C SNP ZBTB38 ENST00000321464 human ensembl 74_37 +1 known silent c.2298 p.G766 0.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ENSG00000177311 72 0 0 67 19 22.093 MLF1 0 genome.wustl.edu 37 3 158320655 158320655 + Nonsense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 158320655 158320655 C T SNP MLF1 ENST00000392822 human ensembl 74_37 +1 known nonsense c.721 p.R241* 0.000 NULL pfam_Myeloid_leukemia_factor - no_errors MLF1 HGNC ENSG00000178053 47 0 0 34 20 37.037 IQCJ-SCHIP1 0 genome.wustl.edu 37 3 158980401 158980401 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 158980401 158980401 C A SNP IQCJ-SCHIP1 ENST00000485419 human ensembl 74_37 +1 known missense c.220 p.P74T 1.000 NULL pfam_SCHIP_1 - no_errors IQCJ-SCHIP1 HGNC ENSG00000250588 162 0 0 116 48 29.2683 BCHE 0 genome.wustl.edu 37 3 165491234 165491234 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 165491234 165491234 A G SNP BCHE ENST00000264381 human ensembl 74_37 -1 known missense c.1745 p.M582T 1.000 pfam_AChE_tetra pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 56 0 0 37 8 17.7778 ZBBX 0 genome.wustl.edu 37 3 167023611 167023611 + Silent SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 167023611 167023611 A G SNP ZBBX ENST00000307529 human ensembl 74_37 -1 known silent c.1545 p.S515 0.000 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 36 0 0 33 10 23.2558 NAALADL2 0 genome.wustl.edu 37 3 174814794 174814794 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 174814794 174814794 C T SNP NAALADL2 ENST00000454872 human ensembl 74_37 +1 known silent c.258 p.S86 0.998 NULL superfamily_TFR-like_dimer_dom - no_errors NAALADL2 HGNC ENSG00000177694 50 0 0 59 21 26.25 HTR3E 0 genome.wustl.edu 37 3 183823624 183823624 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 183823624 183823624 C T SNP HTR3E ENST00000335304 human ensembl 74_37 +1 known silent c.837 p.I279 0.029 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel - no_errors HTR3E HGNC ENSG00000186038 116 0 0 103 33 24.2647 CHRD 0 genome.wustl.edu 37 3 184104513 184104513 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 184104513 184104513 C T SNP CHRD ENST00000204604 human ensembl 74_37 +1 known silent c.2166 p.Y722 0.992 pfam_VWF_C,smart_VWF_C,pirsf_Chordin,pfscan_VWF_C pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C - no_errors CHRD HGNC ENSG00000090539 29 0 0 19 5 20.8333 MAP3K13 0 genome.wustl.edu 37 3 185191163 185191163 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 185191163 185191163 C A SNP MAP3K13 ENST00000265026 human ensembl 74_37 +1 known missense c.2044 p.P682T 1.000 pirsf_MAP3K12_MAP3K13 pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K13 HGNC ENSG00000073803 147 1 0.675676 121 51 29.6512 LIPH 0 genome.wustl.edu 37 3 185237017 185237017 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 185237017 185237017 C T SNP LIPH ENST00000296252 human ensembl 74_37 -1 known missense c.799 p.A267T 0.341 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors LIPH HGNC ENSG00000163898 230 0 0 162 77 32.2176 ADIPOQ 0 genome.wustl.edu 37 3 186570969 186570969 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 186570969 186570969 C T SNP ADIPOQ ENST00000320741 human ensembl 74_37 +1 known missense c.122 p.A41V 0.926 NULL pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors ADIPOQ HGNC ENSG00000181092 61 0 0 47 16 25.3968 MFI2 0 genome.wustl.edu 37 3 196744090 196744090 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 196744090 196744090 G A SNP MFI2 ENST00000296350 human ensembl 74_37 -1 known missense c.784 p.R262W 0.999 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors MFI2 HGNC ENSG00000163975 27 0 0 20 4 16.6667 CNTN4 0 genome.wustl.edu 37 3 2908528 2908528 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 2908528 2908528 A G SNP CNTN4 ENST00000397461 human ensembl 74_37 +1 known missense c.547 p.K183E 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,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 CNTN4 HGNC ENSG00000144619 112 0 0 68 24 26.087 GPD1L 0 genome.wustl.edu 37 3 32200523 32200523 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 32200523 32200523 C T SNP GPD1L ENST00000282541 human ensembl 74_37 +1 known silent c.774 p.C258 1.000 pfam_G3P_DH_NAD-dep_C,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,prints_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk pfam_G3P_DH_NAD-dep_C,pfam_G3P_DH_NAD-dep_N,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,prints_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk - no_errors GPD1L HGNC ENSG00000152642 109 0 0 63 33 34.375 TRANK1 0 genome.wustl.edu 37 3 36874532 36874532 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 36874532 36874532 C T SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known missense c.6410 p.R2137Q 0.000 NULL pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 25 0 0 22 2 8.33333 NBEAL2 0 genome.wustl.edu 37 3 47036838 47036838 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 47036838 47036838 G A SNP NBEAL2 ENST00000450053 human ensembl 74_37 +1 known missense c.1613 p.R538H 0.997 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 17 0 0 12 6 33.3333 SLC26A6 0 genome.wustl.edu 37 3 48670411 48670411 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 48670411 48670411 G A SNP SLC26A6 ENST00000395550 human ensembl 74_37 -1 known silent c.429 p.S143 0.914 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A6 HGNC ENSG00000225697 60 0 0 43 9 17.3077 QRICH1 0 genome.wustl.edu 37 3 49084635 49084635 + Silent SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 49084635 49084635 T C SNP QRICH1 ENST00000357496 human ensembl 74_37 -1 known silent c.1383 p.P461 1.000 NULL pfam_DUF3504,superfamily_DEATH-like_dom - no_errors QRICH1 HGNC ENSG00000198218 152 0 0 102 46 31.0811 LAMB2 0 genome.wustl.edu 37 3 49168259 49168259 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 49168259 49168259 C T SNP LAMB2 ENST00000305544 human ensembl 74_37 -1 known missense c.950 p.R317H 0.980 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 229 0 0 152 63 29.3023 NICN1 0 genome.wustl.edu 37 3 49463813 49463813 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 49463813 49463813 G A SNP NICN1 ENST00000273598 human ensembl 74_37 -1 known missense c.181 p.R61C 1.000 NULL NULL - no_errors NICN1 HGNC ENSG00000145029 54 0 0 45 18 28.5714 DOCK3 0 genome.wustl.edu 37 3 51418838 51418838 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 51418838 51418838 C T SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.5941 p.R1981C 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 37 0 0 31 14 31.1111 RBM15B 0 genome.wustl.edu 37 3 51430611 51430611 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 51430611 51430611 G T SNP RBM15B ENST00000323686 human ensembl 74_37 +1 known missense c.1781 p.R594L 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15B HGNC ENSG00000179837 58 0 0 48 21 30.4348 STAB1 0 genome.wustl.edu 37 3 52551616 52551616 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 52551616 52551616 C T SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known silent c.4614 p.C1538 0.292 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 68 0 0 34 16 32 ITIH4 0 genome.wustl.edu 37 3 52857988 52857988 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 52857988 52857988 C T SNP ITIH4 ENST00000266041 human ensembl 74_37 -1 known missense c.1204 p.V402M 0.850 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH4 HGNC ENSG00000055955 91 0 0 60 6 9.09091 DCP1A 0 genome.wustl.edu 37 3 53326747 53326747 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 53326747 53326747 C T SNP DCP1A ENST00000607628 human ensembl 74_37 -1 known silent c.735 p.L245 1.000 NULL pfam_DCP1 - no_errors DCP1A HGNC ENSG00000162290 54 0 0 37 24 39.3443 WNT5A 0 genome.wustl.edu 37 3 55513421 55513421 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 55513421 55513421 G A SNP WNT5A ENST00000264634 human ensembl 74_37 -1 known silent c.312 p.C104 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT5A HGNC ENSG00000114251 76 0 0 56 36 39.1304 ERC2 0 genome.wustl.edu 37 3 56468490 56468490 + Silent SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 56468490 56468490 A G SNP ERC2 ENST00000288221 human ensembl 74_37 -1 known silent c.546 p.I182 1.000 pfam_CAZ_cplx_RIM-bd_prot pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin - no_errors ERC2 HGNC ENSG00000187672 254 0 0 227 77 25.3289 CADPS 0 genome.wustl.edu 37 3 62636706 62636706 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 62636706 62636706 A G SNP CADPS ENST00000383710 human ensembl 74_37 -1 known missense c.1019 p.I340T 1.000 NULL pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 160 1 0.621118 108 47 30.3226 MAGI1 0 genome.wustl.edu 37 3 65342612 65342612 + Missense_Mutation SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 65342612 65342612 T C SNP MAGI1 ENST00000402939 human ensembl 74_37 -1 known missense c.3830 p.N1277S 0.737 NULL pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI1 HGNC ENSG00000151276 144 0 0 86 55 39.0071 MAGI1 0 genome.wustl.edu 37 3 65425596 65425596 + Nonsense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 65425596 65425596 G A SNP MAGI1 ENST00000402939 human ensembl 74_37 -1 known nonsense c.1228 p.Q410* 0.014 NULL pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI1 HGNC ENSG00000151276 93 0 0 85 27 24.1071 MTTP 0 genome.wustl.edu 37 4 100510863 100510863 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 4 100510863 100510863 G T SNP MTTP ENST00000265517 human ensembl 74_37 +1 known missense c.457 p.A153S 1.000 pfam_Lipid_transpt_N,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors MTTP HGNC ENSG00000138823 30 0 0 33 12 26.6667 FGFRL1 0 genome.wustl.edu 37 4 1018752 1018752 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 4 1018752 1018752 C T SNP FGFRL1 ENST00000264748 human ensembl 74_37 +1 known missense c.1132 p.P378S 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FGFRL1 HGNC ENSG00000127418 42 0 0 38 19 33.3333 SEC24B-AS1 0 genome.wustl.edu 37 4 110268716 110268716 + RNA SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 4 110268716 110268716 G A SNP SEC24B-AS1 ENST00000499713 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors SEC24B-AS1 HGNC ENSG00000247950 12 0 0 15 8 34.7826 USP53 0 genome.wustl.edu 37 4 120192809 120192809 + Silent SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 4 120192809 120192809 T C SNP USP53 ENST00000274030 human ensembl 74_37 +1 known silent c.1794 p.S598 0.919 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP53 HGNC ENSG00000145390 43 0 0 42 18 30 BBS7 0 genome.wustl.edu 37 4 122774171 122774171 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 4 122774171 122774171 G A SNP BBS7 ENST00000264499 human ensembl 74_37 -1 known silent c.789 p.D263 1.000 superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot - no_errors BBS7 HGNC ENSG00000138686 57 0 0 35 12 25.5319 PCDH10 0 genome.wustl.edu 37 4 134072659 134072659 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 4 134072659 134072659 A G SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.1364 p.D455G 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 187 1 0.531915 117 49 29.5181 PCDH18 0 genome.wustl.edu 37 4 138451760 138451760 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 4 138451760 138451760 C T SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known missense c.1483 p.G495R 0.997 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 191 0 0 120 51 29.8246 CRIPAK 0 genome.wustl.edu 37 4 1389203 1389203 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 4 1389203 1389203 G A SNP CRIPAK ENST00000324803 human ensembl 74_37 +1 known missense c.904 p.A302T 0.000 NULL smart_Post-SET_dom - no_errors CRIPAK HGNC ENSG00000179979 502 0 0 352 127 26.5136 DCLK2 0 genome.wustl.edu 37 4 151000401 151000401 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 4 151000401 151000401 G A SNP DCLK2 ENST00000302176 human ensembl 74_37 +1 known silent c.222 p.A74 1.000 smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK2 HGNC ENSG00000170390 14 0 0 11 6 35.2941 SFRP2 0 genome.wustl.edu 37 4 154709663 154709663 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 4 154709663 154709663 C T SNP SFRP2 ENST00000274063 human ensembl 74_37 -1 known missense c.325 p.E109K 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP2 HGNC ENSG00000145423 157 0 0 109 41 27.3333 GRIA2 0 genome.wustl.edu 37 4 158224724 158224724 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 4 158224724 158224724 G A SNP GRIA2 ENST00000264426 human ensembl 74_37 +1 known missense c.250 p.G84R 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA2 HGNC ENSG00000120251 111 0 0 92 47 33.8129 GRIA2 0 genome.wustl.edu 37 4 158233935 158233935 + Missense_Mutation SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 4 158233935 158233935 T C SNP GRIA2 ENST00000264426 human ensembl 74_37 +1 known missense c.574 p.Y192H 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA2 HGNC ENSG00000120251 88 0 0 74 20 21.2766 TLL1 0 genome.wustl.edu 37 4 166913974 166913974 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 4 166913974 166913974 C A SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known missense c.299 p.A100D 0.029 pirsf_BMP_1/tolloid-like pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 103 0 0 56 16 22.2222 TLL1 0 genome.wustl.edu 37 4 166986981 166986981 + Silent SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 4 166986981 166986981 A G SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known silent c.2154 p.V718 0.245 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 132 0 0 76 38 33.3333 SORBS2 0 genome.wustl.edu 37 4 186578702 186578702 + Missense_Mutation SNP G G C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 4 186578702 186578702 G C SNP SORBS2 ENST00000284776 human ensembl 74_37 -1 known missense c.143 p.T48S 0.001 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 81 0 0 51 15 22.7273 ZFYVE28 0 genome.wustl.edu 37 4 2273485 2273485 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 4 2273485 2273485 G A SNP ZFYVE28 ENST00000290974 human ensembl 74_37 -1 known missense c.2345 p.A782V 0.996 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE28 HGNC ENSG00000159733 120 0 0 103 50 32.6797 PPARGC1A 0 genome.wustl.edu 37 4 23815550 23815550 + Missense_Mutation SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 4 23815550 23815550 T C SNP PPARGC1A ENST00000264867 human ensembl 74_37 -1 known missense c.1556 p.D519G 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1A HGNC ENSG00000109819 117 0 0 85 34 28.5714 LGI2 0 genome.wustl.edu 37 4 25005583 25005583 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 4 25005583 25005583 C T SNP LGI2 ENST00000382114 human ensembl 74_37 -1 known silent c.1128 p.A376 0.000 pfam_EPTP,pfscan_EAR pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI2 HGNC ENSG00000153012 137 0 0 107 32 23.0216 HTT 0 genome.wustl.edu 37 4 3215825 3215825 + Nonsense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 4 3215825 3215825 C A SNP HTT ENST00000355072 human ensembl 74_37 +1 known nonsense c.6915 p.C2305* 1.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 25 0 0 33 11 25 HGFAC 0 genome.wustl.edu 37 4 3449908 3449908 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 4 3449908 3449908 G A SNP HGFAC ENST00000382774 human ensembl 74_37 +1 known missense c.1690 p.D564N 0.236 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGFAC HGNC ENSG00000109758 10 0 0 12 9 42.8571 GUF1 0 genome.wustl.edu 37 4 44680700 44680700 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 4 44680700 44680700 G T SNP GUF1 ENST00000281543 human ensembl 74_37 +1 known missense c.61 p.G21W 0.004 NULL pfam_EF_GTP-bd_dom,pfam_LepA_GTP-bd_C,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,pfam_Small_GTPase,superfamily_P-loop_NTPase,superfamily_EFG_III-V,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_EF-4,tigrfam_Small_GTP-bd_dom - no_errors GUF1 HGNC ENSG00000151806 16 0 0 18 6 25 NFXL1 0 genome.wustl.edu 37 4 47901438 47901438 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 4 47901438 47901438 G A SNP NFXL1 ENST00000381538 human ensembl 74_37 -1 known missense c.775 p.R259C 1.000 NULL pfam_Znf_NFX1,smart_Znf_NFX1,pfscan_Znf_RING - no_errors NFXL1 HGNC ENSG00000170448 57 0 0 32 8 20 PIGG 0 genome.wustl.edu 37 4 515707 515707 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 4 515707 515707 G A SNP PIGG ENST00000453061 human ensembl 74_37 +1 known missense c.1591 p.V531M 0.000 NULL pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors PIGG HGNC ENSG00000174227 73 0 0 41 6 12.766 SPATA18 0 genome.wustl.edu 37 4 52944991 52944991 + Missense_Mutation SNP T T G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 4 52944991 52944991 T G SNP SPATA18 ENST00000295213 human ensembl 74_37 +1 known missense c.1111 p.F371V 0.997 NULL NULL - no_errors SPATA18 HGNC ENSG00000163071 119 0 0 96 50 34.2466 FIP1L1 0 genome.wustl.edu 37 4 54324899 54324899 + Nonsense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 4 54324899 54324899 C T SNP FIP1L1 ENST00000337488 human ensembl 74_37 +1 known nonsense c.1579 p.R527* 0.946 NULL pfam_Fip1 - no_errors FIP1L1 HGNC ENSG00000145216 42 0 0 31 4 11.4286 AASDH 0 genome.wustl.edu 37 4 57211364 57211364 + Missense_Mutation SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 4 57211364 57211364 T C SNP AASDH ENST00000205214 human ensembl 74_37 -1 known missense c.2581 p.T861A 0.046 superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like - no_errors AASDH HGNC ENSG00000157426 65 0 0 44 10 18.5185 TMPRSS11E 0 genome.wustl.edu 37 4 69332409 69332409 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 4 69332409 69332409 C T SNP TMPRSS11E ENST00000305363 human ensembl 74_37 +1 known missense c.197 p.A66V 0.597 pfam_SEA_dom,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA_dom pfam_Peptidase_S1,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS11E HGNC ENSG00000087128 401 0 0 274 106 27.8947 TADA2B 0 genome.wustl.edu 37 4 7056395 7056395 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 4 7056395 7056395 C T SNP TADA2B ENST00000310074 human ensembl 74_37 +1 known missense c.877 p.R293W 1.000 pirsf_Transcriptional_adaptor_2 pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors TADA2B HGNC ENSG00000173011 73 0 0 43 12 21.8182 GC 0 genome.wustl.edu 37 4 72618268 72618268 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 4 72618268 72618268 G A SNP GC ENST00000273951 human ensembl 74_37 -1 known silent c.1362 p.S454 0.000 pfam_VitD-bind_III,superfamily_Serum_albumin-like,prints_VitD-bd pfam_Serum_albumin_N,pfam_VitD-bind_III,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_VitD-bd,prints_ALB/AFP/VDB - no_errors GC HGNC ENSG00000145321 65 0 0 61 12 16.4384 CXCL9 0 genome.wustl.edu 37 4 76927393 76927393 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 4 76927393 76927393 G A SNP CXCL9 ENST00000264888 human ensembl 74_37 -1 known silent c.99 p.C33 0.999 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC - no_errors CXCL9 HGNC ENSG00000138755 161 0 0 120 38 24.0506 GPR78 0 genome.wustl.edu 37 4 8584304 8584304 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 4 8584304 8584304 G A SNP GPR78 ENST00000382487 human ensembl 74_37 +1 known missense c.715 p.A239T 0.997 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR78 HGNC ENSG00000155269 137 0 0 88 34 27.8689 SEMA6A 0 genome.wustl.edu 37 5 115783169 115783169 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 115783169 115783169 C A SNP SEMA6A ENST00000257414 human ensembl 74_37 -1 known missense c.2284 p.A762S 1.000 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6A HGNC ENSG00000092421 378 0 0 236 94 28.4848 CDC23 0 genome.wustl.edu 37 5 137533959 137533959 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 137533959 137533959 G A SNP CDC23 ENST00000394886 human ensembl 74_37 -1 known missense c.941 p.S314L 1.000 pfscan_TPR-contain_dom pfam_APC8,pfam_TPR_1,pfam_Transposase_InsH_N,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC23 HGNC ENSG00000094880 157 0 0 90 39 30.2326 EGR1 0 genome.wustl.edu 37 5 137803660 137803660 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 137803660 137803660 G A SNP EGR1 ENST00000239938 human ensembl 74_37 +1 known missense c.1522 p.A508T 0.062 pfam_DUF3432 pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR1 HGNC ENSG00000120738 203 0 0 212 21 9.01288 DNAH5 0 genome.wustl.edu 37 5 13809168 13809168 + Silent SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 13809168 13809168 A G SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known silent c.7737 p.I2579 0.329 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 94 0 0 72 14 16.2791 DNAH5 0 genome.wustl.edu 37 5 13811783 13811783 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 13811783 13811783 G A SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known silent c.7380 p.N2460 1.000 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 62 0 0 42 7 14.2857 PCDHA3 0 genome.wustl.edu 37 5 140183010 140183010 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 140183010 140183010 G A SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known missense c.2228 p.S743N 0.988 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 174 0 0 168 34 16.8317 PCDHA9 0 genome.wustl.edu 37 5 140229418 140229418 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 140229418 140229418 C T SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known silent c.1338 p.A446 0.407 superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 150 0 0 150 21 12.2807 PCDHA10 0 genome.wustl.edu 37 5 140237615 140237615 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 140237615 140237615 C T SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known missense c.1982 p.T661M 0.993 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 40 0 0 45 18 28.5714 PCDHGA6 0 genome.wustl.edu 37 5 140755201 140755201 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 140755201 140755201 G A SNP PCDHGA6 ENST00000517434 human ensembl 74_37 +1 known silent c.1551 p.L517 0.996 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA6 HGNC ENSG00000253731 257 0 0 219 56 20.3636 PCDHGB8P 0 genome.wustl.edu 37 5 140807462 140807462 + RNA SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 140807462 140807462 G A SNP PCDHGB8P ENST00000502926 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors PCDHGB8P HGNC ENSG00000248449 24 0 0 18 10 35.7143 PCDHGA12 0 genome.wustl.edu 37 5 140810726 140810726 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 140810726 140810726 C T SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known missense c.400 p.R134C 0.295 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 183 1 0.543478 139 57 29.0816 PCDH1 0 genome.wustl.edu 37 5 141242828 141242828 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 141242828 141242828 C T SNP PCDH1 ENST00000287008 human ensembl 74_37 -1 known missense c.3068 p.R1023H 1.000 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 96 0 0 59 20 25.3165 SPRY4 0 genome.wustl.edu 37 5 141693947 141693947 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 141693947 141693947 C T SNP SPRY4 ENST00000344120 human ensembl 74_37 -1 known missense c.796 p.V266M 0.430 pfam_Sprouty pfam_Sprouty - no_errors SPRY4 HGNC ENSG00000187678 23 0 0 28 9 24.3243 GPR151 0 genome.wustl.edu 37 5 145895164 145895164 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 145895164 145895164 C T SNP GPR151 ENST00000311104 human ensembl 74_37 -1 known silent c.513 p.P171 0.068 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR151 HGNC ENSG00000173250 98 0 0 51 16 23.8806 PPP2R2B 0 genome.wustl.edu 37 5 145969561 145969561 + Missense_Mutation SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 145969561 145969561 T C SNP PPP2R2B ENST00000394414 human ensembl 74_37 -1 known missense c.1479 p.I493M 0.998 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2B HGNC ENSG00000156475 186 0 0 144 61 29.7561 PPP2R2B 0 genome.wustl.edu 37 5 145969731 145969731 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 145969731 145969731 G A SNP PPP2R2B ENST00000394414 human ensembl 74_37 -1 known missense c.1309 p.R437C 1.000 superfamily_WD40_repeat_dom,pirsf_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2B HGNC ENSG00000156475 108 0 0 101 10 9.00901 SPINK5 0 genome.wustl.edu 37 5 147488329 147488329 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 147488329 147488329 G A SNP SPINK5 ENST00000359874 human ensembl 74_37 +1 known missense c.1621 p.E541K 1.000 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK5 HGNC ENSG00000133710 99 0 0 90 11 10.8911 AFAP1L1 0 genome.wustl.edu 37 5 148680716 148680716 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 148680716 148680716 C T SNP AFAP1L1 ENST00000296721 human ensembl 74_37 +1 known missense c.250 p.R84W 0.969 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1L1 HGNC ENSG00000157510 130 0 0 67 51 43.2203 CSF1R 0 genome.wustl.edu 37 5 149457719 149457719 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 149457719 149457719 C T SNP CSF1R ENST00000286301 human ensembl 74_37 -1 known missense c.685 p.V229I 0.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors CSF1R HGNC ENSG00000182578 145 0 0 83 46 35.6589 SYNPO 0 genome.wustl.edu 37 5 150028591 150028591 + Missense_Mutation SNP A A C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 150028591 150028591 A C SNP SYNPO ENST00000394243 human ensembl 74_37 +1 known missense c.1486 p.S496R 0.002 NULL NULL - no_errors SYNPO HGNC ENSG00000171992 90 0 0 73 22 23.1579 GRIA1 0 genome.wustl.edu 37 5 153078575 153078575 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 153078575 153078575 G A SNP GRIA1 ENST00000448073 human ensembl 74_37 +1 known missense c.1424 p.G475E 1.000 pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 58 0 0 42 12 22.2222 KIF4B 0 genome.wustl.edu 37 5 154394333 154394333 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 154394333 154394333 G A SNP KIF4B ENST00000435029 human ensembl 74_37 +1 known missense c.914 p.S305N 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC ENSG00000226650 287 0 0 242 27 10.0372 ADRA1B 0 genome.wustl.edu 37 5 159344355 159344355 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 159344355 159344355 G A SNP ADRA1B ENST00000306675 human ensembl 74_37 +1 known missense c.443 p.R148H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1B_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA1B HGNC ENSG00000170214 83 0 0 66 16 19.5122 C1QTNF2 0 genome.wustl.edu 37 5 159781820 159781820 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 159781820 159781820 C T SNP C1QTNF2 ENST00000393975 human ensembl 74_37 -1 known missense c.334 p.G112S 1.000 pfam_Collagen pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF2 HGNC ENSG00000145861 40 0 0 30 11 26.8293 ZNF622 0 genome.wustl.edu 37 5 16453248 16453248 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 16453248 16453248 G A SNP ZNF622 ENST00000308683 human ensembl 74_37 -1 known missense c.1180 p.R394C 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF622 HGNC ENSG00000173545 115 0 0 112 7 5.88235 NKX2-5 0 genome.wustl.edu 37 5 172660142 172660142 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 172660142 172660142 C T SNP NKX2-5 ENST00000329198 human ensembl 74_37 -1 known silent c.405 p.A135 0.980 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-5 HGNC ENSG00000183072 23 0 0 23 5 17.8571 CDH18 0 genome.wustl.edu 37 5 19571934 19571934 + Missense_Mutation SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 19571934 19571934 T C SNP CDH18 ENST00000274170 human ensembl 74_37 -1 known missense c.1007 p.N336S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH18 HGNC ENSG00000145526 74 0 0 39 11 22 CDH12 0 genome.wustl.edu 37 5 21975261 21975261 + Silent SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 21975261 21975261 A G SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known silent c.465 p.D155 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 109 0 0 87 18 17.1429 PDZD2 0 genome.wustl.edu 37 5 32074276 32074276 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 32074276 32074276 C T SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.3064 p.R1022W 0.002 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 92 0 0 72 9 11.1111 RXFP3 0 genome.wustl.edu 37 5 33937425 33937425 + Nonsense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 33937425 33937425 C T SNP RXFP3 ENST00000330120 human ensembl 74_37 +1 known nonsense c.580 p.R194* 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors RXFP3 HGNC ENSG00000182631 60 0 0 48 15 23.8095 RXFP3 0 genome.wustl.edu 37 5 33938066 33938066 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 33938066 33938066 C T SNP RXFP3 ENST00000330120 human ensembl 74_37 +1 known silent c.1221 p.I407 0.913 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors RXFP3 HGNC ENSG00000182631 85 0 0 40 20 33.3333 NIPBL 0 genome.wustl.edu 37 5 36976448 36976448 + Missense_Mutation SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 36976448 36976448 T C SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known missense c.1439 p.I480T 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 58 0 0 43 21 32.8125 DAB2 0 genome.wustl.edu 37 5 39388902 39388902 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 39388902 39388902 G A SNP DAB2 ENST00000320816 human ensembl 74_37 -1 known missense c.623 p.S208L 1.000 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors DAB2 HGNC ENSG00000153071 66 0 0 43 13 23.2143 SKIV2L2 0 genome.wustl.edu 37 5 54640407 54640407 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 54640407 54640407 C A SNP SKIV2L2 ENST00000230640 human ensembl 74_37 +1 known missense c.964 p.P322T 1.000 superfamily_P-loop_NTPase,pirsf_RNA_helicase_ATP-dep_SK12/DOB1 pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L2 HGNC ENSG00000039123 47 0 0 28 2 6.66667 IPO11 0 genome.wustl.edu 37 5 61763069 61763069 + Nonsense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 61763069 61763069 C T SNP IPO11 ENST00000409296 human ensembl 74_37 +1 known nonsense c.748 p.R250* 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO11 HGNC ENSG00000086200 78 0 0 58 26 30.9524 ARHGEF28 0 genome.wustl.edu 37 5 73205327 73205327 + Nonsense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 73205327 73205327 C T SNP ARHGEF28 ENST00000545377 human ensembl 74_37 +1 known nonsense c.4252 p.R1418* 0.989 NULL pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF28 HGNC ENSG00000214944 19 0 0 21 7 25 SLC22A16 0 genome.wustl.edu 37 6 110763701 110763701 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 110763701 110763701 A G SNP SLC22A16 ENST00000368919 human ensembl 74_37 -1 known missense c.929 p.I310T 0.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A16 HGNC ENSG00000004809 94 0 0 55 33 37.5 RFPL4B 0 genome.wustl.edu 37 6 112670995 112670995 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 112670995 112670995 G A SNP RFPL4B ENST00000441065 human ensembl 74_37 +1 known missense c.85 p.V29M 0.000 smart_Znf_RING,pfscan_Znf_RING pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RFPL4B HGNC ENSG00000251258 103 0 0 76 16 17.3913 HS3ST5 0 genome.wustl.edu 37 6 114378682 114378682 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 114378682 114378682 C T SNP HS3ST5 ENST00000312719 human ensembl 74_37 -1 known silent c.780 p.T260 0.002 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST5 HGNC ENSG00000249853 81 0 0 78 19 19.5876 PTPRK 0 genome.wustl.edu 37 6 128298173 128298173 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 128298173 128298173 G A SNP PTPRK ENST00000368227 human ensembl 74_37 -1 known silent c.3789 p.I1263 0.968 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 69 0 0 59 13 18.0556 SAMD3 0 genome.wustl.edu 37 6 130535624 130535624 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 130535624 130535624 C T SNP SAMD3 ENST00000368134 human ensembl 74_37 -1 known missense c.127 p.V43I 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD3 HGNC ENSG00000164483 69 0 0 51 18 26.087 MED23 0 genome.wustl.edu 37 6 131943072 131943072 + Missense_Mutation SNP A A C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 131943072 131943072 A C SNP MED23 ENST00000368058 human ensembl 74_37 -1 known missense c.444 p.I148M 0.983 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 123 0 0 84 30 26.3158 EYA4 0 genome.wustl.edu 37 6 133802626 133802626 + Silent SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 133802626 133802626 C A SNP EYA4 ENST00000355167 human ensembl 74_37 +1 known silent c.996 p.P332 0.989 NULL pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA4 HGNC ENSG00000112319 139 0 0 127 18 12.4138 BCLAF1 0 genome.wustl.edu 37 6 136582536 136582536 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 136582536 136582536 C T SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known missense c.2624 p.R875H 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 347 0 0 294 35 10.6383 MAP3K5 0 genome.wustl.edu 37 6 136913616 136913616 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 136913616 136913616 G A SNP MAP3K5 ENST00000359015 human ensembl 74_37 -1 known silent c.3015 p.C1005 0.832 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 216 0 0 230 35 13.2075 TNFAIP3 0 genome.wustl.edu 37 6 138196151 138196151 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 138196151 138196151 G A SNP TNFAIP3 ENST00000237289 human ensembl 74_37 +1 known silent c.465 p.T155 0.938 pfam_OTU,pfscan_OTU pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors TNFAIP3 HGNC ENSG00000118503 94 0 0 65 20 23.5294 STXBP5 0 genome.wustl.edu 37 6 147684527 147684527 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 147684527 147684527 G T SNP STXBP5 ENST00000321680 human ensembl 74_37 +1 known missense c.2602 p.G868C 1.000 superfamily_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5 HGNC ENSG00000164506 54 0 0 31 20 39.2157 SASH1 0 genome.wustl.edu 37 6 148852697 148852697 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 148852697 148852697 G A SNP SASH1 ENST00000367467 human ensembl 74_37 +1 known silent c.1464 p.P488 0.053 pfam_rSAM/SH3_domain-containing pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC ENSG00000111961 68 0 0 33 22 40 ZBTB2 0 genome.wustl.edu 37 6 151686764 151686764 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 151686764 151686764 G A SNP ZBTB2 ENST00000325144 human ensembl 74_37 -1 known silent c.1437 p.D479 0.296 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB2 HGNC ENSG00000181472 87 0 0 70 34 32.6923 SYNE1 0 genome.wustl.edu 37 6 152683404 152683404 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 152683404 152683404 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.10200 p.Q3400 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 82 0 0 90 30 25 TULP4 0 genome.wustl.edu 37 6 158914604 158914604 + Splice_Site SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 158914604 158914604 G T SNP TULP4 ENST00000367097 human ensembl 74_37 +1 known splice_site c.1632-1 e10-1 1.000 - - - no_errors TULP4 HGNC ENSG00000130338 81 0 0 72 29 28.7129 TULP4 0 genome.wustl.edu 37 6 158923693 158923693 + Nonsense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 158923693 158923693 C T SNP TULP4 ENST00000367097 human ensembl 74_37 +1 known nonsense c.2998 p.Q1000* 1.000 NULL pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 20 0 0 25 9 26.4706 SLC22A2 0 genome.wustl.edu 37 6 160679619 160679619 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 160679619 160679619 G A SNP SLC22A2 ENST00000366953 human ensembl 74_37 -1 known silent c.171 p.A57 0.221 pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A2 HGNC ENSG00000112499 83 0 0 75 29 27.8846 TDP2 0 genome.wustl.edu 37 6 24667067 24667067 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 24667067 24667067 C A SNP TDP2 ENST00000545995 human ensembl 74_37 -1 known missense c.114 p.E38D 0.000 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,superfamily_UBA-like - no_errors TDP2 HGNC ENSG00000111802 241 0 0 128 51 28.4916 HIST1H3E 0 genome.wustl.edu 37 6 26225781 26225781 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 26225781 26225781 G A SNP HIST1H3E ENST00000360408 human ensembl 74_37 +1 known silent c.399 p.G133 0.125 superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3E HGNC ENSG00000196966 134 0 0 53 27 33.75 BTN2A3P 0 genome.wustl.edu 37 6 26428893 26428893 + RNA SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 26428893 26428893 A G SNP BTN2A3P ENST00000465856 human ensembl 74_37 +1 known rna NULL NULL 0.921 - - - no_errors BTN2A3P HGNC ENSG00000124549 103 0 0 53 42 44.2105 HIST1H1B 0 genome.wustl.edu 37 6 27835086 27835086 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 27835086 27835086 G A SNP HIST1H1B ENST00000331442 human ensembl 74_37 -1 known silent c.222 p.Y74 1.000 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1B HGNC ENSG00000184357 239 0 0 144 16 10 OR2W1 0 genome.wustl.edu 37 6 29012667 29012667 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 29012667 29012667 C A SNP OR2W1 ENST00000377175 human ensembl 74_37 -1 known missense c.286 p.G96C 0.862 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2W1 HGNC ENSG00000204704 48 0 0 24 6 20 GABBR1 0 genome.wustl.edu 37 6 29581117 29581117 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 29581117 29581117 C T SNP GABBR1 ENST00000377034 human ensembl 74_37 -1 known missense c.1469 p.R490H 0.149 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Peripla_BP_I,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C - no_errors GABBR1 HGNC ENSG00000204681 150 0 0 52 38 42.2222 ZFP57 0 genome.wustl.edu 37 6 29641302 29641302 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 29641302 29641302 C A SNP ZFP57 ENST00000488757 human ensembl 74_37 -1 known missense c.586 p.V196F 0.004 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 ZFP57 HGNC ENSG00000204644 118 1 0.840336 54 26 32.5 HLA-B 0 genome.wustl.edu 37 6 31322883 31322883 + Splice_Site SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 31322883 31322883 C T SNP HLA-B ENST00000412585 human ensembl 74_37 -1 known splice_site c.1012+1 e5+1 0.112 - - - no_errors HLA-B HGNC ENSG00000234745 129 1 0.769231 58 40 40.8163 TAP1 0 genome.wustl.edu 37 6 32815289 32815289 + Splice_Site SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 32815289 32815289 C T SNP TAP1 ENST00000354258 human ensembl 74_37 -1 known splice_site c.2083+1 e9+1 1.000 - - - no_errors TAP1 HGNC ENSG00000168394 89 0 0 71 9 11.25 TAPBP 0 genome.wustl.edu 37 6 33272171 33272171 + Silent SNP G G C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 33272171 33272171 G C SNP TAPBP ENST00000426633 human ensembl 74_37 -1 known silent c.1113 p.V371 0.225 pfam_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,pfscan_Ig-like_dom,prints_Tapasin - no_errors TAPBP HGNC ENSG00000231925 77 0 0 52 3 5.45455 ITPR3 0 genome.wustl.edu 37 6 33636318 33636318 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 33636318 33636318 G A SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.1913 p.C638Y 1.000 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 61 0 0 26 26 50 IRF4 0 genome.wustl.edu 37 6 401689 401689 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 401689 401689 C T SNP IRF4 ENST00000380956 human ensembl 74_37 +1 known silent c.1011 p.D337 0.672 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF4 HGNC ENSG00000137265 87 0 0 64 5 7.24638 PEX6 0 genome.wustl.edu 37 6 42936167 42936167 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 42936167 42936167 G A SNP PEX6 ENST00000304611 human ensembl 74_37 -1 known missense c.1549 p.R517W 0.977 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors PEX6 HGNC ENSG00000124587 22 0 0 11 9 45 CUL9 0 genome.wustl.edu 37 6 43188260 43188260 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 43188260 43188260 C T SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known missense c.6346 p.P2116S 1.000 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 234 0 0 152 52 25.4902 POLR1C 0 genome.wustl.edu 37 6 43488475 43488475 + Nonsense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 43488475 43488475 C A SNP POLR1C ENST00000372389 human ensembl 74_37 +1 known nonsense c.768 p.C256* 1.000 pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 - no_errors POLR1C HGNC ENSG00000171453 110 0 0 83 31 27.193 SLC25A27 0 genome.wustl.edu 37 6 46620981 46620981 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 46620981 46620981 C T SNP SLC25A27 ENST00000371347 human ensembl 74_37 +1 known missense c.52 p.P18S 1.000 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A27 HGNC ENSG00000153291 57 0 0 40 11 21.5686 DST 0 genome.wustl.edu 37 6 56376133 56376133 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 56376133 56376133 C A SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.18549 p.Q6183H 1.000 pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 20 0 0 16 4 20 HUS1B 0 genome.wustl.edu 37 6 656756 656756 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 656756 656756 G A SNP HUS1B ENST00000380907 human ensembl 74_37 -1 known silent c.189 p.F63 0.749 pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1 pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1 - no_errors HUS1B HGNC ENSG00000188996 16 0 0 7 5 41.6667 OGFRL1 0 genome.wustl.edu 37 6 72006266 72006266 + Splice_Site SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 72006266 72006266 T C SNP OGFRL1 ENST00000370435 human ensembl 74_37 +1 known splice_site c.546+2 e5+2 1.000 - - - no_errors OGFRL1 HGNC ENSG00000119900 37 0 0 18 10 35.7143 COL12A1 0 genome.wustl.edu 37 6 75847173 75847173 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 75847173 75847173 C A SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.5374 p.G1792W 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 17 0 0 10 6 37.5 PHIP 0 genome.wustl.edu 37 6 79707231 79707231 + Missense_Mutation SNP T T A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 79707231 79707231 T A SNP PHIP ENST00000275034 human ensembl 74_37 -1 known missense c.2101 p.M701L 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors PHIP HGNC ENSG00000146247 147 0 0 95 47 33.0986 DOPEY1 0 genome.wustl.edu 37 6 83829481 83829481 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 83829481 83829481 G T SNP DOPEY1 ENST00000349129 human ensembl 74_37 +1 known missense c.895 p.G299C 1.000 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 107 0 0 75 26 25.7426 RARS2 0 genome.wustl.edu 37 6 88228428 88228428 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 88228428 88228428 G A SNP RARS2 ENST00000369536 human ensembl 74_37 -1 known silent c.1335 p.Y445 0.998 pfam_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia - no_errors RARS2 HGNC ENSG00000146282 59 0 0 46 17 26.9841 C7orf61 0 genome.wustl.edu 37 7 100054446 100054446 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 100054446 100054446 C T SNP C7orf61 ENST00000332375 human ensembl 74_37 -1 known missense c.550 p.V184I 0.000 NULL NULL - no_errors C7orf61 HGNC ENSG00000185955 25 0 0 33 4 10.8108 EPHB4 0 genome.wustl.edu 37 7 100404108 100404108 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 100404108 100404108 G A SNP EPHB4 ENST00000358173 human ensembl 74_37 -1 known silent c.2418 p.Y806 0.688 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB4 HGNC ENSG00000196411 132 0 0 128 31 19.4969 MUC17 0 genome.wustl.edu 37 7 100680308 100680308 + Missense_Mutation SNP A A C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 100680308 100680308 A C SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.5611 p.S1871R 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 466 0 0 486 106 17.9054 MUC17 0 genome.wustl.edu 37 7 100680313 100680313 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 100680313 100680313 A G SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.5616 p.I1872M 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 470 0 0 486 104 17.6271 MUC17 0 genome.wustl.edu 37 7 100680330 100680330 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 100680330 100680330 C T SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.5633 p.T1878I 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 493 1 0.202429 498 119 19.2869 MUC17 0 genome.wustl.edu 37 7 100680331 100680331 + Silent SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 100680331 100680331 A G SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known silent c.5634 p.T1878 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 492 0 0 500 121 19.4847 MUC17 0 genome.wustl.edu 37 7 100686859 100686859 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 100686859 100686859 G A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known silent c.12162 p.P4054 0.006 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 192 1 0.518135 247 25 9.19118 VGF 0 genome.wustl.edu 37 7 100806796 100806796 + Missense_Mutation SNP G G C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 100806796 100806796 G C SNP VGF ENST00000249330 human ensembl 74_37 -1 known missense c.1329 p.D443E 0.789 NULL NULL - no_errors VGF HGNC ENSG00000128564 24 0 0 18 6 25 PIK3CG 0 genome.wustl.edu 37 7 106520077 106520077 + Silent SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 106520077 106520077 T C SNP PIK3CG ENST00000359195 human ensembl 74_37 +1 known silent c.2505 p.G835 0.153 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CG HGNC ENSG00000105851 67 0 0 53 16 23.1884 GPR146 0 genome.wustl.edu 37 7 1097822 1097822 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 1097822 1097822 C T SNP GPR146 ENST00000297468 human ensembl 74_37 +1 known missense c.671 p.T224M 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR146 HGNC ENSG00000164849 29 0 0 21 9 30 LRRN3 0 genome.wustl.edu 37 7 110763232 110763232 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 110763232 110763232 G T SNP LRRN3 ENST00000308478 human ensembl 74_37 +1 known missense c.404 p.C135F 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRRN3 HGNC ENSG00000173114 53 0 0 97 7 6.73077 LRRN3 0 genome.wustl.edu 37 7 110764173 110764173 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 110764173 110764173 G A SNP LRRN3 ENST00000308478 human ensembl 74_37 +1 known missense c.1345 p.E449K 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRRN3 HGNC ENSG00000173114 203 0 0 191 57 22.9839 IFRD1 0 genome.wustl.edu 37 7 112095822 112095822 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 112095822 112095822 C T SNP IFRD1 ENST00000005558 human ensembl 74_37 +1 known silent c.99 p.G33 1.000 NULL pfam_Interferon-rel_develop_reg_N,pfam_Interferon-rel_develop_reg_C,superfamily_ARM-type_fold - no_errors IFRD1 HGNC ENSG00000006652 75 0 0 59 22 27.1605 CTTNBP2 0 genome.wustl.edu 37 7 117513419 117513419 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 117513419 117513419 C A SNP CTTNBP2 ENST00000160373 human ensembl 74_37 -1 known missense c.51 p.E17D 0.978 NULL pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CTTNBP2 HGNC ENSG00000077063 10 0 0 5 4 44.4444 CADPS2 0 genome.wustl.edu 37 7 122261693 122261693 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 122261693 122261693 G T SNP CADPS2 ENST00000449022 human ensembl 74_37 -1 known missense c.946 p.L316I 1.000 NULL pfam_Ca-dep_secretion_activator,pfam_Pleckstrin_homology,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS2 HGNC ENSG00000081803 106 0 0 103 25 19.5312 FSCN3 0 genome.wustl.edu 37 7 127235677 127235677 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 127235677 127235677 G A SNP FSCN3 ENST00000265825 human ensembl 74_37 +1 known missense c.461 p.R154H 0.597 superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN3 HGNC ENSG00000106328 81 0 0 94 24 20.339 NRF1 0 genome.wustl.edu 37 7 129394886 129394886 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 129394886 129394886 C T SNP NRF1 ENST00000393231 human ensembl 74_37 +1 known silent c.1434 p.Y478 1.000 pfam_Nrf1_activation-bd pfam_Nrf1_NLS/DNA-bd_dimer,pfam_Nrf1_activation-bd - no_errors NRF1 HGNC ENSG00000106459 90 0 0 82 26 24.0741 PLXNA4 0 genome.wustl.edu 37 7 131872350 131872350 + Missense_Mutation SNP T T A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 131872350 131872350 T A SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.2873 p.D958V 0.963 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 269 0 0 265 82 23.6311 KIAA1549 0 genome.wustl.edu 37 7 138603975 138603975 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 138603975 138603975 C T SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known missense c.397 p.A133T 0.146 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 300 0 0 333 19 5.39773 JHDM1D 0 genome.wustl.edu 37 7 139791777 139791777 + Missense_Mutation SNP A A C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 139791777 139791777 A C SNP JHDM1D ENST00000397560 human ensembl 74_37 -1 known missense c.2558 p.L853R 0.860 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors JHDM1D HGNC ENSG00000006459 44 0 0 68 25 26.8817 DENND2A 0 genome.wustl.edu 37 7 140269471 140269471 + Missense_Mutation SNP T T G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 140269471 140269471 T G SNP DENND2A ENST00000275884 human ensembl 74_37 -1 known missense c.1514 p.Q505P 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2A HGNC ENSG00000146966 246 0 0 255 51 16.6667 EPHB6 0 genome.wustl.edu 37 7 142566348 142566348 + Nonsense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 142566348 142566348 C T SNP EPHB6 ENST00000392957 human ensembl 74_37 +1 known nonsense c.2137 p.Q713* 0.996 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB6 HGNC ENSG00000106123 25 0 0 49 6 10.9091 EPHA1 0 genome.wustl.edu 37 7 143097071 143097071 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 143097071 143097071 G A SNP EPHA1 ENST00000275815 human ensembl 74_37 -1 known missense c.508 p.R170C 0.999 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA1 HGNC ENSG00000146904 42 0 0 28 17 37.7778 TPK1 0 genome.wustl.edu 37 7 144364881 144364881 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 144364881 144364881 C T SNP TPK1 ENST00000482940 human ensembl 74_37 -1 known missense c.166 p.E56K 0.004 NULL NULL - no_errors TPK1 HGNC ENSG00000196511 103 0 0 110 27 19.708 CNTNAP2 0 genome.wustl.edu 37 7 147600793 147600793 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 147600793 147600793 C T SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known silent c.2235 p.C745 0.217 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 25 0 0 27 7 20.5882 CUL1 0 genome.wustl.edu 37 7 148456394 148456394 + Splice_Site SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 148456394 148456394 A G SNP CUL1 ENST00000325222 human ensembl 74_37 +1 known splice_site c.484-2 e4-2 1.000 - - - no_errors CUL1 HGNC ENSG00000055130 101 0 0 88 28 24.1379 ZNF783 0 genome.wustl.edu 37 7 148978725 148978725 + Missense_Mutation SNP G G C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 148978725 148978725 G C SNP ZNF783 ENST00000434415 human ensembl 74_37 +1 known missense c.932 p.G311A 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF783 HGNC ENSG00000204946 39 0 0 62 15 19.4805 SSPO 0 genome.wustl.edu 37 7 149475959 149475959 + RNA SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 149475959 149475959 A G SNP SSPO ENST00000262089 human ensembl 74_37 +1 known rna NULL NULL 0.270 - - - no_errors SSPO HGNC ENSG00000197558 127 0 0 154 9 5.52147 SSPO 0 genome.wustl.edu 37 7 149495203 149495203 + RNA SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 149495203 149495203 G A SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SSPO HGNC ENSG00000197558 89 0 0 82 23 21.9048 SSPO 0 genome.wustl.edu 37 7 149508800 149508800 + RNA SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 149508800 149508800 C T SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 0.264 - - - no_errors SSPO HGNC ENSG00000197558 120 0 0 116 38 24.6753 NOS3 0 genome.wustl.edu 37 7 150711160 150711160 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 150711160 150711160 G A SNP NOS3 ENST00000297494 human ensembl 74_37 +1 known missense c.3515 p.R1172H 1.000 pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS3 HGNC ENSG00000164867 51 0 0 43 9 17.3077 ATG9B 0 genome.wustl.edu 37 7 150714284 150714284 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 150714284 150714284 G A SNP ATG9B ENST00000377974 human ensembl 74_37 -1 known missense c.2128 p.R710W 1.000 NULL pfam_Autophagy-rel_prot_9 - no_errors ATG9B HGNC ENSG00000181652 31 0 0 34 7 17.0732 INTS1 0 genome.wustl.edu 37 7 1510498 1510498 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 1510498 1510498 G A SNP INTS1 ENST00000389470 human ensembl 74_37 -1 known silent c.7053 p.Y2351 1.000 superfamily_ARM-type_fold pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 15 0 0 9 5 35.7143 WDR86 0 genome.wustl.edu 37 7 151093060 151093060 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 151093060 151093060 C A SNP WDR86 ENST00000477459 human ensembl 74_37 -1 known missense c.144 p.K48N 1.000 pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR86 HGNC ENSG00000187260 12 0 0 14 3 17.6471 NCAPG2 0 genome.wustl.edu 37 7 158483354 158483354 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 158483354 158483354 C T SNP NCAPG2 ENST00000409339 human ensembl 74_37 -1 known missense c.443 p.C148Y 1.000 superfamily_ARM-type_fold pfam_Condensin2_G2,superfamily_ARM-type_fold - no_errors NCAPG2 HGNC ENSG00000146918 118 0 0 107 28 20.7407 ITGB8 0 genome.wustl.edu 37 7 20445782 20445782 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 20445782 20445782 G A SNP ITGB8 ENST00000222573 human ensembl 74_37 +1 known missense c.2011 p.D671N 0.996 pirsf_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_EGF_extracell,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB8 HGNC ENSG00000105855 42 0 0 41 7 14.5833 MIR1183 0 genome.wustl.edu 37 7 21510690 21510690 + RNA SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 21510690 21510690 C T SNP MIR1183 ENST00000408856 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MIR1183 HGNC ENSG00000221783 91 0 0 97 26 21.1382 TRA2A 0 genome.wustl.edu 37 7 23556005 23556005 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 23556005 23556005 G A SNP TRA2A ENST00000297071 human ensembl 74_37 -1 known missense c.313 p.R105W 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TRA2A HGNC ENSG00000164548 58 0 0 82 18 18 HOXA1 0 genome.wustl.edu 37 7 27135410 27135410 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 27135410 27135410 G A SNP HOXA1 ENST00000343060 human ensembl 74_37 -1 known missense c.122 p.A41V 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXA1 HGNC ENSG00000105991 132 0 0 160 45 21.9512 CREB5 0 genome.wustl.edu 37 7 28858738 28858738 + Nonsense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 28858738 28858738 G T SNP CREB5 ENST00000357727 human ensembl 74_37 +1 known nonsense c.1369 p.E457* 0.997 pirsf_TF_cAMP-dep pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP - no_errors CREB5 HGNC ENSG00000146592 198 0 0 199 47 19.1057 NPSR1 0 genome.wustl.edu 37 7 34851405 34851405 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 34851405 34851405 C A SNP NPSR1 ENST00000381544 human ensembl 74_37 +1 known missense c.304 p.L102I 1.000 NULL NULL - no_errors NPSR1 HGNC ENSG00000187258 154 0 0 141 51 26.5625 VPS41 0 genome.wustl.edu 37 7 38798010 38798010 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 38798010 38798010 C T SNP VPS41 ENST00000310301 human ensembl 74_37 -1 known silent c.1494 p.R498 0.994 pirsf_VPS41 pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41,pfscan_Znf_RING - no_errors VPS41 HGNC ENSG00000006715 49 0 0 56 15 21.1268 SDK1 0 genome.wustl.edu 37 7 4026921 4026921 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 4026921 4026921 A G SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.2098 p.I700V 0.729 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,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 SDK1 HGNC ENSG00000146555 164 0 0 159 34 17.6166 GLI3 0 genome.wustl.edu 37 7 42003945 42003945 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 42003945 42003945 G T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.4726 p.L1576I 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 61 0 0 53 10 15.873 GLI3 0 genome.wustl.edu 37 7 42006185 42006185 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 42006185 42006185 C T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.2486 p.G829D 0.132 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 119 0 0 129 27 17.3077 GLI3 0 genome.wustl.edu 37 7 42012081 42012081 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 42012081 42012081 G A SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.1958 p.P653L 0.999 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 131 0 0 132 51 27.8689 HECW1 0 genome.wustl.edu 37 7 43485109 43485109 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 43485109 43485109 G A SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known missense c.2338 p.V780M 0.000 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW1 HGNC ENSG00000002746 37 0 0 33 5 13.1579 PGAM2 0 genome.wustl.edu 37 7 44104780 44104780 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 44104780 44104780 G A SNP PGAM2 ENST00000297283 human ensembl 74_37 -1 known missense c.349 p.R117C 1.000 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 - no_errors PGAM2 HGNC ENSG00000164708 68 0 0 59 15 20.2703 OGDH 0 genome.wustl.edu 37 7 44715660 44715660 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 44715660 44715660 A G SNP OGDH ENST00000222673 human ensembl 74_37 +1 known missense c.1118 p.N373S 1.000 pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDH HGNC ENSG00000105953 134 0 0 160 11 6.43275 CCM2 0 genome.wustl.edu 37 7 45115560 45115560 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 45115560 45115560 G A SNP CCM2 ENST00000381112 human ensembl 74_37 +1 known silent c.1302 p.S434 0.000 NULL pfscan_PTB/PI_dom - no_errors CCM2 HGNC ENSG00000136280 55 0 0 54 20 27.027 PKD1L1 0 genome.wustl.edu 37 7 47968829 47968829 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 47968829 47968829 C T SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known silent c.1032 p.A344 0.000 NULL pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 159 0 0 203 54 21.0117 EGFR 0 genome.wustl.edu 37 7 55087030 55087030 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 55087030 55087030 G A SNP EGFR ENST00000275493 human ensembl 74_37 +1 known silent c.60 p.P20 0.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EGFR HGNC ENSG00000146648 18 0 0 27 4 12.9032 GBAS 0 genome.wustl.edu 37 7 56065092 56065092 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 56065092 56065092 G A SNP GBAS ENST00000322090 human ensembl 74_37 +1 known missense c.746 p.R249Q 1.000 pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel - no_errors GBAS HGNC ENSG00000146729 76 0 0 73 25 25.5102 PSPH 0 genome.wustl.edu 37 7 56087422 56087422 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 56087422 56087422 C A SNP PSPH ENST00000275605 human ensembl 74_37 -1 known missense c.146 p.R49L 0.994 pfam_HAD-like_dom,pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,tigrfam_SerB,tigrfam_HAD-SF_hydro_IB_PSP-like pfam_HAD-like_dom,pfam_Pyrimidine_nucleotidase_eu,pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,tigrfam_SerB,tigrfam_HAD-SF_hydro_IB_PSP-like - no_errors PSPH HGNC ENSG00000146733 41 0 0 44 10 18.5185 INTS4L2 0 genome.wustl.edu 37 7 65150703 65150703 + RNA SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 65150703 65150703 C T SNP INTS4L2 ENST00000430126 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors INTS4L2 HGNC ENSG00000232270 22 0 0 24 14 36.8421 SBDS 0 genome.wustl.edu 37 7 66453459 66453459 + Nonsense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 66453459 66453459 G A SNP SBDS ENST00000246868 human ensembl 74_37 -1 known nonsense c.652 p.R218* 0.989 pfam_Ribosome_mat_SBDS_C,tigrfam_Ribosome_maturation_pr_SBDS pfam_Ribosome_mat_SBDS_C,pfam_Ribosome_mat_SBDS_N,superfamily_Ribosome_mat_SBDS_N,tigrfam_Ribosome_maturation_pr_SBDS - no_errors SBDS HGNC ENSG00000126524 52 0 0 57 18 24 WBSCR17 0 genome.wustl.edu 37 7 70885960 70885960 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 70885960 70885960 C T SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known silent c.831 p.N277 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 247 0 0 285 45 13.6364 POM121 0 genome.wustl.edu 37 7 72413459 72413459 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 72413459 72413459 A G SNP POM121 ENST00000434423 human ensembl 74_37 +1 known missense c.2927 p.E976G 0.105 NULL NULL - no_errors POM121 HGNC ENSG00000196313 100 0 0 126 14 10 NSUN5 0 genome.wustl.edu 37 7 72717909 72717909 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 72717909 72717909 C T SNP NSUN5 ENST00000438747 human ensembl 74_37 -1 known silent c.1059 p.R353 0.140 pfam_Fmu/NOL1/Nop2p,prints_RCMT pfam_Fmu/NOL1/Nop2p,prints_RCMT - no_errors NSUN5 HGNC ENSG00000130305 37 0 0 35 13 27.0833 LIMK1 0 genome.wustl.edu 37 7 73510958 73510958 + Silent SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 73510958 73510958 T C SNP LIMK1 ENST00000336180 human ensembl 74_37 +1 known silent c.159 p.C53 0.996 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK1 HGNC ENSG00000106683 78 0 0 43 16 27.1186 CLIP2 0 genome.wustl.edu 37 7 73768325 73768325 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 73768325 73768325 C T SNP CLIP2 ENST00000223398 human ensembl 74_37 +1 known missense c.794 p.A265V 1.000 pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain - no_errors CLIP2 HGNC ENSG00000106665 172 0 0 191 47 19.7479 GSAP 0 genome.wustl.edu 37 7 77010626 77010626 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 77010626 77010626 C T SNP GSAP ENST00000257626 human ensembl 74_37 -1 known missense c.572 p.R191K 0.666 NULL NULL - no_errors GSAP HGNC ENSG00000186088 58 0 0 45 18 28.5714 PHTF2 0 genome.wustl.edu 37 7 77549656 77549656 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 77549656 77549656 C T SNP PHTF2 ENST00000248550 human ensembl 74_37 +1 known silent c.837 p.S279 1.000 NULL pfam_TF_homeodomain_male - no_errors PHTF2 HGNC ENSG00000006576 34 0 0 37 11 22.9167 GLCCI1 0 genome.wustl.edu 37 7 8043595 8043595 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 8043595 8043595 C A SNP GLCCI1 ENST00000223145 human ensembl 74_37 +1 known missense c.515 p.S172Y 1.000 NULL NULL - no_errors GLCCI1 HGNC ENSG00000106415 90 0 0 113 42 27.0968 ABCB4 0 genome.wustl.edu 37 7 87049339 87049339 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 87049339 87049339 A G SNP ABCB4 ENST00000265723 human ensembl 74_37 -1 known missense c.2369 p.M790T 0.999 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB4 HGNC ENSG00000005471 207 0 0 210 53 20.1521 ADAM22 0 genome.wustl.edu 37 7 87778316 87778316 + Nonsense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 87778316 87778316 C T SNP ADAM22 ENST00000265727 human ensembl 74_37 +1 known nonsense c.1510 p.R504* 1.000 pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,prints_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM22 HGNC ENSG00000008277 41 0 0 37 13 26 AKAP9 0 genome.wustl.edu 37 7 91726403 91726403 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 91726403 91726403 G A SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.10142 p.R3381Q 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 34 0 0 40 7 14.8936 ANKIB1 0 genome.wustl.edu 37 7 92027653 92027653 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 92027653 92027653 C T SNP ANKIB1 ENST00000265742 human ensembl 74_37 +1 known missense c.2660 p.A887V 0.998 NULL pfam_Znf_C6HC,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Znf_RING,smart_Znf_C6HC,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING - no_errors ANKIB1 HGNC ENSG00000001629 40 0 0 29 10 25.641 PPP1R9A 0 genome.wustl.edu 37 7 94740584 94740584 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 94740584 94740584 A G SNP PPP1R9A ENST00000289495 human ensembl 74_37 +1 known missense c.1409 p.Y470C 1.000 NULL pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors PPP1R9A HGNC ENSG00000158528 68 0 0 54 20 27.027 DYNC1I1 0 genome.wustl.edu 37 7 95665061 95665061 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 95665061 95665061 G T SNP DYNC1I1 ENST00000324972 human ensembl 74_37 +1 known missense c.1412 p.G471V 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I1 HGNC ENSG00000158560 171 0 0 175 29 14.2157 DLX5 0 genome.wustl.edu 37 7 96650072 96650072 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 96650072 96650072 C T SNP DLX5 ENST00000222598 human ensembl 74_37 -1 known silent c.846 p.A282 0.992 NULL pfam_Distal-less_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX5 HGNC ENSG00000105880 83 0 0 106 10 8.62069 ASNS 0 genome.wustl.edu 37 7 97483924 97483924 + Silent SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 97483924 97483924 A G SNP ASNS ENST00000175506 human ensembl 74_37 -1 known silent c.1206 p.V402 0.401 pfam_Asn_synthase pfam_Asn_synthase,pfam_GATase_dom,tigrfam_Asn_synth_AEB - no_errors ASNS HGNC ENSG00000070669 109 0 0 107 26 19.5489 LMTK2 0 genome.wustl.edu 37 7 97822375 97822375 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 97822375 97822375 G A SNP LMTK2 ENST00000297293 human ensembl 74_37 +1 known silent c.2598 p.P866 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC ENSG00000164715 62 0 0 68 10 12.8205 CYP3A7 0 genome.wustl.edu 37 7 99315208 99315208 + Nonsense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 99315208 99315208 C A SNP CYP3A7 ENST00000336374 human ensembl 74_37 -1 known nonsense c.373 p.E125* 0.061 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP3A7 HGNC ENSG00000160870 69 0 0 79 14 15.0538 UBR5 0 genome.wustl.edu 37 8 103359305 103359305 + Silent SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 103359305 103359305 A G SNP UBR5 ENST00000520539 human ensembl 74_37 -1 known silent c.402 p.S134 1.000 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 193 0 0 116 44 27.5 RIMS2 0 genome.wustl.edu 37 8 105261792 105261792 + Missense_Mutation SNP A A C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 105261792 105261792 A C SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.3667 p.K1223Q 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 70 0 0 55 5 8.33333 DCSTAMP 0 genome.wustl.edu 37 8 105361753 105361753 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 105361753 105361753 A G SNP DCSTAMP ENST00000297581 human ensembl 74_37 +1 known missense c.973 p.S325G 0.900 pfam_DC_STAMP-like,superfamily_ABC1_TM_dom pfam_DC_STAMP-like,superfamily_ABC1_TM_dom - no_errors DCSTAMP HGNC ENSG00000164935 268 0 0 156 92 37.0968 SOX7 0 genome.wustl.edu 37 8 10583758 10583758 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 10583758 10583758 G T SNP SOX7 ENST00000553390 human ensembl 74_37 -1 known missense c.813 p.F271L 1.000 pfam_Sox_C_TAD pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom - no_errors SOX7 HGNC ENSG00000171056 69 0 0 45 23 33.8235 SYBU 0 genome.wustl.edu 37 8 110590244 110590244 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 110590244 110590244 C T SNP SYBU ENST00000276646 human ensembl 74_37 -1 known missense c.737 p.R246H 0.990 NULL NULL - no_errors SYBU HGNC ENSG00000147642 225 0 0 155 36 18.8482 DLC1 0 genome.wustl.edu 37 8 12957554 12957554 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 12957554 12957554 G T SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known missense c.2292 p.S764R 1.000 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 75 0 0 49 29 37.1795 SLA 0 genome.wustl.edu 37 8 134072497 134072497 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 134072497 134072497 A G SNP SLA ENST00000427060 human ensembl 74_37 -1 known missense c.29 p.L10P 0.000 NULL pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2 - no_errors SLA HGNC ENSG00000155926 21 0 0 28 5 15.1515 COL22A1 0 genome.wustl.edu 37 8 139606333 139606333 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 139606333 139606333 G A SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known silent c.4542 p.A1514 0.069 pfam_Collagen pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 64 0 0 55 21 27.6316 DENND3 0 genome.wustl.edu 37 8 142178528 142178528 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 142178528 142178528 C T SNP DENND3 ENST00000262585 human ensembl 74_37 +1 known missense c.1939 p.H647Y 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom - no_errors DENND3 HGNC ENSG00000105339 81 0 0 66 22 25 GPIHBP1 0 genome.wustl.edu 37 8 144297001 144297001 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 144297001 144297001 G A SNP GPIHBP1 ENST00000330824 human ensembl 74_37 +1 known missense c.295 p.E99K 0.953 pfam_LY6_UPAR pfam_LY6_UPAR - no_errors GPIHBP1 HGNC ENSG00000182851 57 0 0 36 17 32.0755 ZC3H3 0 genome.wustl.edu 37 8 144618479 144618479 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 144618479 144618479 C T SNP ZC3H3 ENST00000262577 human ensembl 74_37 -1 known silent c.1509 p.T503 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H3 HGNC ENSG00000014164 30 0 0 30 8 21.0526 TSTA3 0 genome.wustl.edu 37 8 144696548 144696548 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 144696548 144696548 G T SNP TSTA3 ENST00000425753 human ensembl 74_37 -1 known missense c.540 p.F180L 1.000 pfam_Epimerase_deHydtase pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct - no_errors TSTA3 HGNC ENSG00000104522 68 0 0 58 4 6.45161 RECQL4 0 genome.wustl.edu 37 8 145737698 145737698 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 145737698 145737698 C T SNP RECQL4 ENST00000428558 human ensembl 74_37 -1 known missense c.3065 p.R1022H 0.000 NULL pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DNA_rep_checkpnt_protein,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL4 HGNC ENSG00000160957 75 0 0 44 14 24.1379 MYOM2 0 genome.wustl.edu 37 8 2092936 2092936 + RNA SNP T T G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 2092936 2092936 T G SNP MYOM2 ENST00000520298 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MYOM2 HGNC ENSG00000036448 31 0 0 20 10 33.3333 RHOBTB2 0 genome.wustl.edu 37 8 22864862 22864862 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 22864862 22864862 C T SNP RHOBTB2 ENST00000251822 human ensembl 74_37 +1 known silent c.1104 p.D368 0.930 superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB2 HGNC ENSG00000008853 175 0 0 115 45 28.125 NEFM 0 genome.wustl.edu 37 8 24771698 24771698 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 24771698 24771698 C T SNP NEFM ENST00000221166 human ensembl 74_37 +1 known missense c.392 p.A131V 0.996 pfam_IF pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 18 0 0 17 4 19.0476 ELP3 0 genome.wustl.edu 37 8 27950679 27950679 + RNA SNP T T G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 27950679 27950679 T G SNP ELP3 ENST00000523760 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ELP3 HGNC ENSG00000134014 56 0 0 31 13 29.5455 ELP3 0 genome.wustl.edu 37 8 27954825 27954825 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 27954825 27954825 G A SNP ELP3 ENST00000256398 human ensembl 74_37 +1 known missense c.109 p.D37N 1.000 pirsf_Hist_AcTrfase_ELP3,tigrfam_Hist_AcTrfase_ELP3 pfam_rSAM,pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,smart_Elp3/MiaB/NifB,pirsf_Hist_AcTrfase_ELP3,pfscan_GNAT_dom,tigrfam_Hist_AcTrfase_ELP3 - no_errors ELP3 HGNC ENSG00000134014 112 0 0 75 30 28.5714 GSR 0 genome.wustl.edu 37 8 30550568 30550568 + Missense_Mutation SNP A A T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 30550568 30550568 A T SNP GSR ENST00000221130 human ensembl 74_37 -1 known missense c.800 p.L267H 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_Hg_reductase,tigrfam_Glutathione_Rdtase_euk/bac pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Glutathione_Rdtase_euk/bac - no_errors GSR HGNC ENSG00000104687 70 0 0 58 5 7.93651 TEX15 0 genome.wustl.edu 37 8 30694424 30694424 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 30694424 30694424 G A SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known missense c.8227 p.R2743W 0.980 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 76 0 0 45 23 33.8235 IDO2 0 genome.wustl.edu 37 8 39872905 39872905 + Silent SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 39872905 39872905 T C SNP IDO2 ENST00000502986 human ensembl 74_37 +1 known silent c.1047 p.C349 0.126 pfam_Indolamine_dOase pfam_Indolamine_dOase - no_errors IDO2 HGNC ENSG00000188676 48 0 0 41 20 32.7869 KAT6A 0 genome.wustl.edu 37 8 41800346 41800346 + Missense_Mutation SNP C C G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 41800346 41800346 C G SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.2401 p.E801Q 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 151 0 0 100 34 25.3731 SLC20A2 0 genome.wustl.edu 37 8 42287757 42287757 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 42287757 42287757 C A SNP SLC20A2 ENST00000342228 human ensembl 74_37 -1 known missense c.1534 p.G512C 1.000 pfam_Phos_transporter pfam_Phos_transporter - no_errors SLC20A2 HGNC ENSG00000168575 45 0 0 43 5 10.4167 PRKDC 0 genome.wustl.edu 37 8 48766746 48766746 + Missense_Mutation SNP T T A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 48766746 48766746 T A SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.6788 p.D2263V 1.000 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 61 0 0 38 13 25.4902 PRKDC 0 genome.wustl.edu 37 8 48801690 48801690 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 48801690 48801690 C T SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.4162 p.V1388I 1.000 NULL pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 68 0 0 43 27 38.5714 PRKDC 0 genome.wustl.edu 37 8 48849059 48849059 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 48849059 48849059 C T SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.1132 p.A378T 1.000 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 69 0 0 48 23 32.3944 PXDNL 0 genome.wustl.edu 37 8 52321691 52321691 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 52321691 52321691 C T SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known silent c.2493 p.P831 0.003 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 20 0 0 12 4 25 MRPL15 0 genome.wustl.edu 37 8 55049965 55049965 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 55049965 55049965 G T SNP MRPL15 ENST00000260102 human ensembl 74_37 +1 known missense c.401 p.R134M 1.000 pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P - no_errors MRPL15 HGNC ENSG00000137547 84 0 0 62 22 26.1905 BHLHE22 0 genome.wustl.edu 37 8 65493461 65493461 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 65493461 65493461 G A SNP BHLHE22 ENST00000321870 human ensembl 74_37 +1 known silent c.114 p.T38 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors BHLHE22 HGNC ENSG00000180828 17 0 0 12 5 29.4118 ARFGEF1 0 genome.wustl.edu 37 8 68137212 68137212 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 68137212 68137212 C A SNP ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known missense c.4134 p.W1378C 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 61 0 0 33 11 25 SLCO5A1 0 genome.wustl.edu 37 8 70585289 70585289 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 70585289 70585289 C T SNP SLCO5A1 ENST00000260126 human ensembl 74_37 -1 known missense c.2362 p.D788N 0.001 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO5A1 HGNC ENSG00000137571 133 0 0 105 42 28.5714 NCOA2 0 genome.wustl.edu 37 8 71041044 71041044 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 71041044 71041044 C T SNP NCOA2 ENST00000452400 human ensembl 74_37 -1 known missense c.3496 p.A1166T 0.860 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA2 HGNC ENSG00000140396 85 0 0 59 23 28.0488 CRISPLD1 0 genome.wustl.edu 37 8 75928931 75928931 + Nonsense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 75928931 75928931 C T SNP CRISPLD1 ENST00000262207 human ensembl 74_37 +1 known nonsense c.859 p.Q287* 0.974 NULL pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1 - no_errors CRISPLD1 HGNC ENSG00000121005 163 0 0 128 51 28.4916 SGK223 0 genome.wustl.edu 37 8 8176151 8176151 + Missense_Mutation SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 8176151 8176151 T C SNP SGK223 ENST00000330777 human ensembl 74_37 -1 known missense c.3734 p.Y1245C 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SGK223 Uniprot_gn ENSG00000182319 69 0 0 52 4 7.14286 SLC10A5 0 genome.wustl.edu 37 8 82605999 82605999 + Silent SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 82605999 82605999 T C SNP SLC10A5 ENST00000518568 human ensembl 74_37 -1 known silent c.1209 p.V403 1.000 NULL pfam_BilAc/Na_symport - no_errors SLC10A5 HGNC ENSG00000253598 45 0 0 33 10 23.2558 INTS8 0 genome.wustl.edu 37 8 95848830 95848830 + Missense_Mutation SNP T T A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 95848830 95848830 T A SNP INTS8 ENST00000523731 human ensembl 74_37 +1 known missense c.832 p.F278I 1.000 NULL NULL - no_errors INTS8 HGNC ENSG00000164941 62 0 0 61 22 26.506 NDUFAF6 0 genome.wustl.edu 37 8 96047736 96047736 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 96047736 96047736 A G SNP NDUFAF6 ENST00000396124 human ensembl 74_37 +1 known missense c.352 p.K118E 1.000 pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth - no_errors NDUFAF6 HGNC ENSG00000156170 61 0 0 40 21 34.4262 MTDH 0 genome.wustl.edu 37 8 98699693 98699693 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 98699693 98699693 G A SNP MTDH ENST00000336273 human ensembl 74_37 +1 known missense c.605 p.R202Q 1.000 NULL NULL - no_errors MTDH HGNC ENSG00000147649 65 0 0 63 6 8.69565 POP1 0 genome.wustl.edu 37 8 99168419 99168419 + Silent SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 99168419 99168419 T C SNP POP1 ENST00000349693 human ensembl 74_37 +1 known silent c.2199 p.G733 0.000 NULL pfam_RNase_P/MRP_POP1,pfam_POPLD - no_errors POP1 HGNC ENSG00000104356 142 0 0 95 39 29.1045 COL15A1 0 genome.wustl.edu 37 9 101829222 101829222 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 9 101829222 101829222 G A SNP COL15A1 ENST00000375001 human ensembl 74_37 +1 known missense c.3710 p.C1237Y 1.000 pfam_Collagenase_NC10/endostatin,superfamily_C-type_lectin_fold pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC ENSG00000204291 106 0 0 94 9 8.73786 ACTL7A 0 genome.wustl.edu 37 9 111625620 111625620 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 9 111625620 111625620 G A SNP ACTL7A ENST00000333999 human ensembl 74_37 +1 known missense c.1018 p.V340M 0.349 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL7A HGNC ENSG00000187003 138 0 0 94 34 26.5625 ZNF483 0 genome.wustl.edu 37 9 114303976 114303976 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 9 114303976 114303976 G T SNP ZNF483 ENST00000309235 human ensembl 74_37 +1 known missense c.761 p.R254M 0.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF483 HGNC ENSG00000173258 80 0 0 44 16 26.6667 KIAA1958 0 genome.wustl.edu 37 9 115421888 115421888 + Missense_Mutation SNP A A C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 9 115421888 115421888 A C SNP KIAA1958 ENST00000536272 human ensembl 74_37 +1 known missense c.1774 p.S592R 1.000 pfam_DUF3504 pfam_DUF3504,superfamily_Integrase_Lambda-type_N - no_errors KIAA1958 HGNC ENSG00000165185 23 0 0 18 5 21.7391 ZNF618 0 genome.wustl.edu 37 9 116811701 116811701 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 9 116811701 116811701 C T SNP ZNF618 ENST00000374126 human ensembl 74_37 +1 known missense c.2119 p.R707C 1.000 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF618 HGNC ENSG00000157657 10 0 0 10 5 33.3333 CRB2 0 genome.wustl.edu 37 9 126136078 126136078 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 9 126136078 126136078 C T SNP CRB2 ENST00000373631 human ensembl 74_37 +1 known missense c.3268 p.R1090C 0.003 pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB2 HGNC ENSG00000148204 16 0 0 15 5 25 RABEPK 0 genome.wustl.edu 37 9 127995981 127995981 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 9 127995981 127995981 A G SNP RABEPK ENST00000373538 human ensembl 74_37 +1 known missense c.841 p.T281A 1.000 pfam_Kelch_2,pfam_Kelch_1 pfam_Kelch_2,pfam_Kelch_1 - no_errors RABEPK HGNC ENSG00000136933 263 0 0 186 48 20.5128 MAPKAP1 0 genome.wustl.edu 37 9 128322031 128322031 + Silent SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 9 128322031 128322031 G T SNP MAPKAP1 ENST00000265960 human ensembl 74_37 -1 known silent c.729 p.T243 0.556 pfam_SIN1 pfam_SIN1 - no_errors MAPKAP1 HGNC ENSG00000119487 65 0 0 27 13 32.5 GOLGA2 0 genome.wustl.edu 37 9 131036199 131036199 + Missense_Mutation SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 9 131036199 131036199 T C SNP GOLGA2 ENST00000421699 human ensembl 74_37 -1 known missense c.137 p.K46R 1.000 NULL superfamily_CofA_tubulin-bd - no_errors GOLGA2 HGNC ENSG00000167110 275 0 0 190 80 29.6296 CERCAM 0 genome.wustl.edu 37 9 131185155 131185155 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 9 131185155 131185155 C T SNP CERCAM ENST00000372838 human ensembl 74_37 +1 known missense c.206 p.T69M 1.000 NULL pfam_Glyco_trans_25 - no_errors CERCAM HGNC ENSG00000167123 46 0 0 22 11 33.3333 TBC1D13 0 genome.wustl.edu 37 9 131568256 131568256 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 9 131568256 131568256 A G SNP TBC1D13 ENST00000372648 human ensembl 74_37 +1 known missense c.1037 p.N346S 0.984 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D13 HGNC ENSG00000107021 47 0 0 46 13 22.0339 GTF3C4 0 genome.wustl.edu 37 9 135553481 135553481 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 9 135553481 135553481 C T SNP GTF3C4 ENST00000372146 human ensembl 74_37 +1 known missense c.475 p.P159S 0.998 NULL superfamily_WD40_repeat_dom - no_errors GTF3C4 HGNC ENSG00000125484 140 0 0 109 45 29.2208 RPL7A 0 genome.wustl.edu 37 9 136217870 136217870 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 9 136217870 136217870 G A SNP RPL7A ENST00000323345 human ensembl 74_37 +1 known missense c.640 p.A214T 0.746 prints_Ribosomal_L7A/L8 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_L7A/L8,prints_Ribosomal_L7Ae/L8/Nhp2 - no_errors RPL7A HGNC ENSG00000148303 39 0 0 35 7 16.6667 ADAMTS13 0 genome.wustl.edu 37 9 136324225 136324225 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 9 136324225 136324225 G A SNP ADAMTS13 ENST00000371929 human ensembl 74_37 +1 known missense c.4207 p.G1403S 0.978 superfamily_CUB_dom pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB_dom,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS13 HGNC ENSG00000160323 29 0 0 21 3 12.5 VAV2 0 genome.wustl.edu 37 9 136677299 136677299 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 9 136677299 136677299 C T SNP VAV2 ENST00000371850 human ensembl 74_37 -1 known silent c.489 p.P163 0.352 superfamily_CH-domain pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain - no_errors VAV2 HGNC ENSG00000160293 100 0 0 65 21 24.4186 RABL6 0 genome.wustl.edu 37 9 139726193 139726193 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 9 139726193 139726193 G A SNP RABL6 ENST00000371663 human ensembl 74_37 +1 known missense c.479 p.R160Q 1.000 pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors RABL6 HGNC ENSG00000196642 75 0 0 50 13 20.6349 NOL6 0 genome.wustl.edu 37 9 33463912 33463912 + Nonsense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 9 33463912 33463912 G A SNP NOL6 ENST00000297990 human ensembl 74_37 -1 known nonsense c.2911 p.Q971* 1.000 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 100 0 0 62 34 35.4167 NOL6 0 genome.wustl.edu 37 9 33464952 33464952 + Nonsense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 9 33464952 33464952 G A SNP NOL6 ENST00000297990 human ensembl 74_37 -1 known nonsense c.2704 p.R902* 1.000 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 107 0 0 77 39 33.6207 KIAA1161 0 genome.wustl.edu 37 9 34371859 34371859 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 9 34371859 34371859 G A SNP KIAA1161 ENST00000297625 human ensembl 74_37 -1 known silent c.981 p.G327 0.573 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF - no_errors KIAA1161 HGNC ENSG00000164976 71 0 0 72 10 12.1951 FAM214B 0 genome.wustl.edu 37 9 35106309 35106309 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 9 35106309 35106309 C T SNP FAM214B ENST00000322813 human ensembl 74_37 -1 known silent c.1158 p.T386 1.000 NULL NULL - no_errors FAM214B HGNC ENSG00000005238 94 0 0 61 38 38.3838 TLN1 0 genome.wustl.edu 37 9 35713239 35713239 + Silent SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 9 35713239 35713239 G A SNP TLN1 ENST00000314888 human ensembl 74_37 -1 known silent c.3306 p.I1102 0.198 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN1 HGNC ENSG00000137076 48 0 0 31 12 27.907 FRMPD1 0 genome.wustl.edu 37 9 37746497 37746497 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 9 37746497 37746497 G A SNP FRMPD1 ENST00000377765 human ensembl 74_37 +1 known missense c.4468 p.V1490M 0.074 NULL pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD1 HGNC ENSG00000070601 46 0 0 35 11 23.913 ZNF658 0 genome.wustl.edu 37 9 40775010 40775010 + Missense_Mutation SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 9 40775010 40775010 C A SNP ZNF658 ENST00000377626 human ensembl 74_37 -1 known missense c.265 p.G89W 0.009 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 ZNF658 HGNC ENSG00000196409 53 0 0 34 11 24.4444 VPS13A 0 genome.wustl.edu 37 9 79897181 79897181 + Missense_Mutation SNP A A G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 9 79897181 79897181 A G SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known missense c.3109 p.K1037E 0.998 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 45 0 0 45 20 30.7692 SPATA31D5P 0 genome.wustl.edu 37 9 84531405 84531405 + RNA SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 9 84531405 84531405 C T SNP SPATA31D5P ENST00000527857 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPATA31D5P HGNC ENSG00000240632 14 0 0 10 3 23.0769 SPATA31D5P 0 genome.wustl.edu 37 9 84532199 84532199 + RNA SNP C C G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 9 84532199 84532199 C G SNP SPATA31D5P ENST00000527857 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPATA31D5P HGNC ENSG00000240632 45 0 0 30 5 14.2857 SPATA31D5P 0 genome.wustl.edu 37 9 84532403 84532403 + RNA SNP C C G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 9 84532403 84532403 C G SNP SPATA31D5P ENST00000527857 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPATA31D5P HGNC ENSG00000240632 76 0 0 73 14 16.092 SPATA31D3 0 genome.wustl.edu 37 9 84562526 84562526 + RNA SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 9 84562526 84562526 G A SNP SPATA31D3 ENST00000334208 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPATA31D3 HGNC ENSG00000186788 52 0 0 65 17 20.7317 SPATA31D3 0 genome.wustl.edu 37 9 84562576 84562576 + RNA SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 9 84562576 84562576 G A SNP SPATA31D3 ENST00000334208 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPATA31D3 HGNC ENSG00000186788 53 0 0 51 8 13.5593 PTPRD 0 genome.wustl.edu 37 9 8499822 8499822 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 9 8499822 8499822 C T SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.2147 p.R716H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 70 0 0 69 28 28.866 AUH 0 genome.wustl.edu 37 9 93983209 93983209 + Nonsense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 9 93983209 93983209 G A SNP AUH ENST00000375731 human ensembl 74_37 -1 known nonsense c.721 p.R241* 0.997 pfam_Crotonase_core_superfam pfam_Crotonase_core_superfam - no_errors AUH HGNC ENSG00000148090 123 0 0 94 42 30.8824 ARMCX2 0 genome.wustl.edu 37 X 100912702 100912702 + Splice_Site SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d X 100912702 100912702 C A SNP ARMCX2 ENST00000328766 human ensembl 74_37 -1 known splice_site c.1-1 e1-1 0.193 - - - no_errors ARMCX2 HGNC ENSG00000184867 14 0 0 15 7 31.8182 WWC3 0 genome.wustl.edu 37 X 10096130 10096130 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d X 10096130 10096130 C T SNP WWC3 ENST00000380861 human ensembl 74_37 +1 known missense c.2209 p.R737W 0.000 NULL superfamily_C2_dom - no_errors WWC3 HGNC ENSG00000047644 53 0 0 21 35 62.5 CLCN4 0 genome.wustl.edu 37 X 10182015 10182015 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d X 10182015 10182015 C T SNP CLCN4 ENST00000380833 human ensembl 74_37 +1 known missense c.1871 p.T624M 0.997 pfam_CBS_dom,smart_CBS_dom,prints_Cl_channel-4 pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-4 - no_errors CLCN4 HGNC ENSG00000073464 21 0 0 7 9 56.25 MUM1L1 0 genome.wustl.edu 37 X 105450793 105450793 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d X 105450793 105450793 C T SNP MUM1L1 ENST00000337685 human ensembl 74_37 +1 known silent c.1368 p.D456 0.006 NULL superfamily_PyrdxlP-dep_Trfase - no_errors MUM1L1 HGNC ENSG00000157502 61 0 0 46 8 14.8148 ZCCHC16 0 genome.wustl.edu 37 X 111698712 111698712 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d X 111698712 111698712 C T SNP ZCCHC16 ENST00000340433 human ensembl 74_37 +1 known silent c.756 p.P252 0.000 NULL superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC16 HGNC ENSG00000187823 153 0 0 64 84 56.7568 HTR2C 0 genome.wustl.edu 37 X 113965833 113965833 + Missense_Mutation SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d X 113965833 113965833 C T SNP HTR2C ENST00000276198 human ensembl 74_37 +1 known missense c.166 p.P56S 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2C_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2C HGNC ENSG00000147246 93 0 0 72 16 18.1818 BCORL1 0 genome.wustl.edu 37 X 129189948 129189948 + Missense_Mutation SNP G G T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d X 129189948 129189948 G T SNP BCORL1 ENST00000303743 human ensembl 74_37 +1 known missense c.5195 p.R1732M 0.907 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 111 0 0 68 87 56.129 MAMLD1 0 genome.wustl.edu 37 X 149639606 149639606 + Silent SNP C C A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d X 149639606 149639606 C A SNP MAMLD1 ENST00000432680 human ensembl 74_37 +1 known silent c.1686 p.S562 0.426 NULL NULL - no_errors MAMLD1 HGNC ENSG00000013619 67 0 0 29 49 62.8205 GABRE 0 genome.wustl.edu 37 X 151128320 151128320 + Missense_Mutation SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d X 151128320 151128320 T C SNP GABRE ENST00000370328 human ensembl 74_37 -1 known missense c.775 p.T259A 0.325 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAe_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRE HGNC ENSG00000102287 67 0 0 26 35 57.377 IRAK1 0 genome.wustl.edu 37 X 153278091 153278091 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d X 153278091 153278091 G A SNP IRAK1 ENST00000369980 human ensembl 74_37 -1 known missense c.1969 p.P657S 0.001 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors IRAK1 HGNC ENSG00000184216 57 0 0 49 4 7.54717 ATP6AP1 0 genome.wustl.edu 37 X 153663736 153663736 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d X 153663736 153663736 G A SNP ATP6AP1 ENST00000369762 human ensembl 74_37 +1 known missense c.1088 p.G363E 1.000 pfam_BIG/ATPase_V1_suS1 pfam_BIG/ATPase_V1_suS1 - no_errors ATP6AP1 HGNC ENSG00000071553 33 0 0 12 27 69.2308 ACE2 0 genome.wustl.edu 37 X 15589815 15589815 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d X 15589815 15589815 G A SNP ACE2 ENST00000252519 human ensembl 74_37 -1 known missense c.1769 p.P590L 0.996 pfam_Peptidase_M2 pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE2 HGNC ENSG00000130234 97 0 0 24 56 70 P2RY8 0 genome.wustl.edu 37 X 1584732 1584732 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d X 1584732 1584732 C T SNP P2RY8 ENST00000381297 human ensembl 74_37 -1 known silent c.720 p.A240 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors P2RY8 HGNC ENSG00000182162 43 0 0 58 18 23.6842 YY2 0 genome.wustl.edu 37 X 21874825 21874825 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d X 21874825 21874825 G A SNP YY2 ENST00000429584 human ensembl 74_37 +1 known missense c.223 p.D75N 0.626 pirsf_TF_Yin_yang smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2 - no_errors YY2 HGNC ENSG00000230797 89 0 0 44 34 43.5897 ZBED1 0 genome.wustl.edu 37 X 2408192 2408192 + Missense_Mutation SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d X 2408192 2408192 T C SNP ZBED1 ENST00000381218 human ensembl 74_37 -1 known missense c.569 p.E190G 0.001 superfamily_RNaseH-like_dom pfam_HATC_dom_C,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED1 HGNC ENSG00000214717 239 0 0 252 27 9.67742 SYTL5 0 genome.wustl.edu 37 X 37984696 37984696 + Missense_Mutation SNP T T C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d X 37984696 37984696 T C SNP SYTL5 ENST00000456733 human ensembl 74_37 +1 known missense c.2053 p.W685R 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 - no_errors SYTL5 HGNC ENSG00000147041 90 0 0 37 62 62.6263 FGD1 0 genome.wustl.edu 37 X 54472656 54472656 + Silent SNP C C T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d X 54472656 54472656 C T SNP FGD1 ENST00000375135 human ensembl 74_37 -1 known silent c.2772 p.T924 0.718 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD1 HGNC ENSG00000102302 39 0 0 31 7 18.4211 PCDH19 0 genome.wustl.edu 37 X 99657662 99657662 + Missense_Mutation SNP G G A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d X 99657662 99657662 G A SNP PCDH19 ENST00000373034 human ensembl 74_37 -1 known missense c.2476 p.R826C 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 29 0 0 5 11 68.75 WDR47 0 genome.wustl.edu 37 1 109560141 109560141 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 109560141 109560141 T - DEL WDR47 ENST00000400794 human ensembl 74_37 -1 known frame_shift_del c.241 p.R81fs 1.000 smart_CTLH_C,pfscan_CTLH_C pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR47 HGNC ENSG00000085433 67 0 0 42 23 35.3846 SLC16A4 0 genome.wustl.edu 37 1 110906427 110906427 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 110906427 110906427 A - DEL SLC16A4 ENST00000369779 human ensembl 74_37 -1 known frame_shift_del c.1425 p.F475fs 0.998 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A4 HGNC ENSG00000168679 92 0 0 69 21 23.3333 SLC22A15 0 genome.wustl.edu 37 1 116563380 116563380 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 116563380 116563380 T - DEL SLC22A15 ENST00000369503 human ensembl 74_37 +1 known frame_shift_del c.472 p.S159fs 0.999 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A15 HGNC ENSG00000163393 76 0 0 66 15 18.5185 ADAM30 0 genome.wustl.edu 37 1 120438116 120438116 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 120438116 120438116 T - DEL ADAM30 ENST00000369400 human ensembl 74_37 -1 known frame_shift_del c.844 p.S282fs 0.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM30 HGNC ENSG00000134249 64 0 0 46 15 24.5902 SCNN1D 0 genome.wustl.edu 37 1 1222261 1222262 + Frame_Shift_Ins INS - - C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 1222261 1222262 - C INS SCNN1D ENST00000379116 human ensembl 74_37 +1 known frame_shift_ins c.1025_1026 p.R344fs 0.000:0.006 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1D HGNC ENSG00000162572 75 0 0 58 8 12.1212 VPS13D 0 genome.wustl.edu 37 1 12335954 12335954 + Frame_Shift_Del DEL C C - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 12335954 12335954 C - DEL VPS13D ENST00000358136 human ensembl 74_37 +1 known frame_shift_del c.2309 p.L772fs 1.000 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 154 0 0 82 26 24.0741 AADACL3 0 genome.wustl.edu 37 1 12785494 12785495 + Frame_Shift_Ins INS - - T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 12785494 12785495 - T INS AADACL3 ENST00000359318 human ensembl 74_37 +1 known frame_shift_ins c.584_585 p.Q198fs 0.040:0.012 NULL pfam_AB_hydrolase_3 - no_errors AADACL3 HGNC ENSG00000188984 188 0 0 168 39 18.8406 C1orf54 0 genome.wustl.edu 37 1 150246562 150246562 + Frame_Shift_Del DEL C C - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 150246562 150246562 C - DEL C1orf54 ENST00000369099 human ensembl 74_37 +1 known frame_shift_del c.119 p.S42fs 1.000 NULL NULL - no_errors C1orf54 HGNC ENSG00000118292 167 0 0 156 25 13.8122 ZNF687 0 genome.wustl.edu 37 1 151261079 151261079 + Frame_Shift_Del DEL C C - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 151261079 151261079 C - DEL ZNF687 ENST00000324048 human ensembl 74_37 +1 known frame_shift_del c.2191 p.H733fs 0.430 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF687 HGNC ENSG00000143373 135 0 0 91 41 31.0606 COPA 0 genome.wustl.edu 37 1 160265548 160265548 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 160265548 160265548 A - DEL COPA ENST00000368069 human ensembl 74_37 -1 known frame_shift_del c.2481 p.F827fs 1.000 pfam_Coatomer_asu_C,pirsf_Coatomer_asu pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors COPA HGNC ENSG00000122218 104 0 0 78 17 17.8947 USP21 0 genome.wustl.edu 37 1 161134660 161134660 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 161134660 161134660 A - DEL USP21 ENST00000289865 human ensembl 74_37 +1 known frame_shift_del c.1420 p.S476fs 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP21 HGNC ENSG00000143258 115 0 0 78 26 25 SHCBP1L 0 genome.wustl.edu 37 1 182908471 182908471 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 182908471 182908471 T - DEL SHCBP1L ENST00000367547 human ensembl 74_37 -1 known frame_shift_del c.916 p.T306fs 1.000 NULL superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 - no_errors SHCBP1L HGNC ENSG00000157060 56 0 0 51 10 16.3934 ASPM 0 genome.wustl.edu 37 1 197073232 197073232 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 197073232 197073232 T - DEL ASPM ENST00000367409 human ensembl 74_37 -1 known frame_shift_del c.5149 p.I1717fs 0.000 superfamily_ARM-type_fold pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 161 0 0 121 34 21.9355 CACNA1S 0 genome.wustl.edu 37 1 201022361 201022363 + In_Frame_Del DEL GAA GAA - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 201022361 201022363 GAA - DEL CACNA1S ENST00000362061 human ensembl 74_37 -1 known in_frame_del c.3837_3835 p.F1279in_frame_del 1.000:1.000:1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 106 0 0 95 23 19.4915 EPHX1 0 genome.wustl.edu 37 1 226026384 226026384 + Frame_Shift_Del DEL C C - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 226026384 226026384 C - DEL EPHX1 ENST00000272167 human ensembl 74_37 +1 known frame_shift_del c.394 p.Q134fs 1.000 pfam_Epoxide_hydro_N,pirsf_Epoxide_hydrolase pfam_Epoxide_hydro_N,pfam_AB_hydrolase_1,pirsf_Epoxide_hydrolase,prints_Epox_hydrolase-like - no_errors EPHX1 HGNC ENSG00000143819 219 0 0 175 33 15.8654 PARP1 0 genome.wustl.edu 37 1 226570840 226570840 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 226570840 226570840 T - DEL PARP1 ENST00000366794 human ensembl 74_37 -1 known frame_shift_del c.1056 p.K352fs 0.996 pirsf_NAD_ADPRT pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP1 HGNC ENSG00000143799 455 0 0 337 85 20.1422 WNT9A 0 genome.wustl.edu 37 1 228111954 228111954 + Frame_Shift_Del DEL C C - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 228111954 228111954 C - DEL WNT9A ENST00000272164 human ensembl 74_37 -1 known frame_shift_del c.500 p.G167fs 1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt9a - no_errors WNT9A HGNC ENSG00000143816 194 0 0 182 24 11.6505 EPHB2 0 genome.wustl.edu 37 1 23240246 23240246 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 23240246 23240246 A - DEL EPHB2 ENST00000400191 human ensembl 74_37 +1 known frame_shift_del c.3051 p.K1020fs 0.270 NULL pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB2 HGNC ENSG00000133216 16 0 0 18 7 28 OR14C36 0 genome.wustl.edu 37 1 248512384 248512384 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 248512384 248512384 T - DEL OR14C36 ENST00000317861 human ensembl 74_37 +1 known frame_shift_del c.308 p.F105fs 0.004 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 OR14C36 HGNC ENSG00000177174 65 0 0 50 15 23.0769 ARID1A 0 genome.wustl.edu 37 1 27088788 27088788 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 27088788 27088788 G - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.2397 p.G801fs 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 107 0 0 93 30 24.3902 ATPIF1 0 genome.wustl.edu 37 1 28564412 28564414 + In_Frame_Del DEL AAG AAG - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 28564412 28564414 AAG - DEL ATPIF1 ENST00000335514 human ensembl 74_37 +1 known in_frame_del c.244_246 p.K83in_frame_del 0.062:0.081:0.176 pfam_ATPase_inhibitor_IATP_mt pfam_ATPase_inhibitor_IATP_mt - no_errors ATPIF1 HGNC ENSG00000130770 45 0 0 32 9 21.9512 ZMYM6 0 genome.wustl.edu 37 1 35484912 35484912 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 35484912 35484912 A - DEL ZMYM6 ENST00000317538 human ensembl 74_37 -1 novel frame_shift_del c.470 p.L157fs 0.001 NULL pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM6 HGNC ENSG00000163867 55 0 0 31 10 24.3902 CSF3R 0 genome.wustl.edu 37 1 36935323 36935323 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 36935323 36935323 G - DEL CSF3R ENST00000373103 human ensembl 74_37 -1 known frame_shift_del c.1404 p.S469fs 0.425 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF3R HGNC ENSG00000119535 161 0 0 142 29 16.9591 EPHA10 0 genome.wustl.edu 37 1 38185238 38185238 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 38185238 38185238 G - DEL EPHA10 ENST00000427468 human ensembl 74_37 -1 known frame_shift_del c.2604 p.R869fs 0.983 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA10 HGNC ENSG00000183317 111 0 0 69 17 19.7674 ZMPSTE24 0 genome.wustl.edu 37 1 40735757 40735757 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 40735757 40735757 T - DEL ZMPSTE24 ENST00000372759 human ensembl 74_37 +1 known frame_shift_del c.585 p.F197fs 1.000 NULL pfam_Peptidase_M48 - no_errors ZMPSTE24 HGNC ENSG00000084073 282 0 0 300 21 6.54206 TIE1 0 genome.wustl.edu 37 1 43772910 43772910 + Frame_Shift_Del DEL C C - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 43772910 43772910 C - DEL TIE1 ENST00000372476 human ensembl 74_37 +1 known frame_shift_del c.738 p.P248fs 0.382 smart_EG-like_dom,pfscan_EG-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 76 0 0 62 19 23.4568 RABGGTB 0 genome.wustl.edu 37 1 76259888 76259888 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 76259888 76259888 G - DEL RABGGTB ENST00000319942 human ensembl 74_37 +1 known frame_shift_del c.825 p.G277fs 0.014 pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors RABGGTB HGNC ENSG00000137955 164 0 0 107 19 15.0794 SLC45A1 0 genome.wustl.edu 37 1 8390484 8390484 + Frame_Shift_Del DEL C C - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 8390484 8390484 C - DEL SLC45A1 ENST00000377479 human ensembl 74_37 +1 known frame_shift_del c.1033 p.P346fs 1.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A1 HGNC ENSG00000162426 40 0 0 25 6 19.3548 CCDC18 0 genome.wustl.edu 37 1 93667516 93667516 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 1 93667516 93667516 A - DEL CCDC18 ENST00000557479 human ensembl 74_37 +1 known frame_shift_del c.1120 p.V377fs 1.000 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC18 HGNC ENSG00000122483 89 0 0 47 16 25.3968 ENTPD7 0 genome.wustl.edu 37 10 101439208 101439208 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 101439208 101439208 A - DEL ENTPD7 ENST00000370489 human ensembl 74_37 +1 known frame_shift_del c.382 p.I130fs 1.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD7 HGNC ENSG00000198018 34 0 0 24 11 31.4286 GTPBP4 0 genome.wustl.edu 37 10 1058424 1058426 + In_Frame_Del DEL AAG AAG - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 1058424 1058426 AAG - DEL GTPBP4 ENST00000360803 human ensembl 74_37 +1 known in_frame_del c.1364_1366 p.E458in_frame_del 1.000:0.994:1.000 NULL pfam_NOG1_Rossman_fold_dom,pfam_NOG_C,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_MIRO-like,superfamily_P-loop_NTPase,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors GTPBP4 HGNC ENSG00000107937 46 0 0 24 13 35.1351 USP6NL 0 genome.wustl.edu 37 10 11504926 11504926 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 11504926 11504926 G - DEL USP6NL ENST00000379237 human ensembl 74_37 -1 known frame_shift_del c.2070 p.R691fs 0.698 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors USP6NL HGNC ENSG00000148429 37 0 0 23 11 32.3529 DPYSL4 0 genome.wustl.edu 37 10 134018422 134018423 + Frame_Shift_Del DEL CT CT - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 134018422 134018423 CT - DEL DPYSL4 ENST00000338492 human ensembl 74_37 +1 known frame_shift_del c.1707_1708 p.S572fs 0.372:0.936 NULL pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL4 HGNC ENSG00000151640 132 0 0 107 18 14.4 MTG1 0 genome.wustl.edu 37 10 135211971 135211971 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 135211971 135211971 A - DEL MTG1 ENST00000317502 human ensembl 74_37 +1 known frame_shift_del c.315 p.N107fs 0.220 superfamily_P-loop_NTPase,pirsf_GTPase_MTG1,tigrfam_GTP-bd_ribosome_bgen_YlqF pfam_GTP_binding_domain,superfamily_P-loop_NTPase,pirsf_GTPase_MTG1,tigrfam_GTP-bd_ribosome_bgen_YlqF - no_errors MTG1 HGNC ENSG00000148824 107 0 0 67 21 23.8636 FRMD4A 0 genome.wustl.edu 37 10 13696452 13696452 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 13696452 13696452 G - DEL FRMD4A ENST00000357447 human ensembl 74_37 -1 known frame_shift_del c.3014 p.P1005fs 1.000 NULL pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 135 0 0 96 13 11.9266 DNAJC1 0 genome.wustl.edu 37 10 22208767 22208767 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 22208767 22208767 T - DEL DNAJC1 ENST00000376980 human ensembl 74_37 -1 known frame_shift_del c.629 p.N210fs 1.000 NULL pfam_DnaJ_domain,pfam_SANT/Myb,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC1 HGNC ENSG00000136770 198 1 0.502513 144 42 22.5806 PALD1 0 genome.wustl.edu 37 10 72299504 72299505 + Frame_Shift_Ins INS - - C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 72299504 72299505 - C INS PALD1 ENST00000263563 human ensembl 74_37 +1 known frame_shift_ins c.1894_1895 p.R634fs 1.000:1.000 NULL smart_Tyr_Pase_cat - no_errors PALD1 HGNC ENSG00000107719 93 0 0 47 15 24.1935 PLAU 0 genome.wustl.edu 37 10 75673437 75673438 + Frame_Shift_Ins INS - - G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 75673437 75673438 - G INS PLAU ENST00000372764 human ensembl 74_37 +1 known frame_shift_ins c.601_602 p.S204fs 0.156:0.201 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Kringle,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PLAU HGNC ENSG00000122861 176 0 0 149 46 23.5897 ITIH5 0 genome.wustl.edu 37 10 7618918 7618918 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 7618918 7618918 G - DEL ITIH5 ENST00000256861 human ensembl 74_37 -1 known frame_shift_del c.1476 p.S493fs 0.000 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 93 0 0 96 18 15.7895 ZMIZ1 0 genome.wustl.edu 37 10 81072446 81072446 + Frame_Shift_Del DEL C C - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 81072446 81072446 C - DEL ZMIZ1 ENST00000334512 human ensembl 74_37 +1 known frame_shift_del c.3144 p.D1051fs 0.963 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ1 HGNC ENSG00000108175 308 0 0 260 16 5.7971 LARP4B 0 genome.wustl.edu 37 10 890939 890939 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 890939 890939 T - DEL LARP4B ENST00000316157 human ensembl 74_37 -1 known frame_shift_del c.487 p.T163fs 1.000 pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 84 0 0 85 25 22.7273 STAMBPL1 0 genome.wustl.edu 37 10 90682146 90682146 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 90682146 90682146 A - DEL STAMBPL1 ENST00000371927 human ensembl 74_37 +1 known frame_shift_del c.1207 p.K405fs 1.000 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors STAMBPL1 HGNC ENSG00000138134 73 0 0 68 19 21.8391 CYP26C1 0 genome.wustl.edu 37 10 94828412 94828412 + Frame_Shift_Del DEL C C - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 10 94828412 94828412 C - DEL CYP26C1 ENST00000285949 human ensembl 74_37 +1 known frame_shift_del c.1527 p.L511fs 0.065 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP26C1 HGNC ENSG00000187553 47 0 0 37 15 28.8462 NPAT 0 genome.wustl.edu 37 11 108042926 108042927 + Frame_Shift_Ins INS - - T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 108042926 108042927 - T INS NPAT ENST00000278612 human ensembl 74_37 -1 known frame_shift_ins c.2785_2784 p.G928fs 1.000:1.000 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors NPAT HGNC ENSG00000149308 134 0 0 85 27 24.1071 NLRX1 0 genome.wustl.edu 37 11 119053878 119053878 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 119053878 119053878 G - DEL NLRX1 ENST00000292199 human ensembl 74_37 +1 known frame_shift_del c.2658 p.G888fs 0.006 NULL superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRX1 HGNC ENSG00000160703 62 0 0 35 6 14.6341 USP2 0 genome.wustl.edu 37 11 119243680 119243681 + Frame_Shift_Ins INS - - G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 119243680 119243681 - G INS USP2 ENST00000260187 human ensembl 74_37 -1 known frame_shift_ins c.511_510 p.M170fs 1.000:1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP2 HGNC ENSG00000036672 130 0 0 98 37 27.4074 MICALCL 0 genome.wustl.edu 37 11 12315442 12315442 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 12315442 12315442 A - DEL MICALCL ENST00000256186 human ensembl 74_37 +1 known frame_shift_del c.464 p.S158fs 0.000 NULL pfam_DUF3585,smart_ProQ/FinO - no_errors MICALCL HGNC ENSG00000133808 67 0 0 67 23 25.5556 THYN1 0 genome.wustl.edu 37 11 134121096 134121099 + Frame_Shift_Del DEL CAAA CAAA - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 CAAA CAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 134121096 134121099 CAAA - DEL THYN1 ENST00000341541 human ensembl 74_37 -1 known frame_shift_del c.150_147 p.C49fs 0.000:0.000:0.000:0.000 NULL pfam_EVE_domain,superfamily_PUA-like_domain - no_errors THYN1 HGNC ENSG00000151500 441 0 0 300 70 18.9189 HPS5 0 genome.wustl.edu 37 11 18313386 18313387 + Frame_Shift_Ins INS - - T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 18313386 18313387 - T INS HPS5 ENST00000349215 human ensembl 74_37 -1 known frame_shift_ins c.2043_2042 p.I683fs 0.993:1.000 pirsf_BLOC-2_complex_Hps5_subunit superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit - no_errors HPS5 HGNC ENSG00000110756 86 0 0 60 20 25 PRMT3 0 genome.wustl.edu 37 11 20515777 20515777 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 20515777 20515777 A - DEL PRMT3 ENST00000331079 human ensembl 74_37 +1 known frame_shift_del c.1463 p.K489fs 1.000 pfam_Arg_MeTrfase pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_mo5U34_MeTrfas-like,pfam_Methyltransf_11,pfam_Arg_MeTrfase,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT3 HGNC ENSG00000185238 255 0 0 184 58 23.9669 PAX6 0 genome.wustl.edu 37 11 31812316 31812317 + Frame_Shift_Ins INS - - G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 31812316 31812317 - G INS PAX6 ENST00000379107 human ensembl 74_37 -1 known frame_shift_ins c.1167_1166 p.H390fs 0.017:1.000 NULL pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom - no_errors PAX6 HGNC ENSG00000007372 82 0 0 73 21 22.3404 NUP98 0 genome.wustl.edu 37 11 3797186 3797187 + Frame_Shift_Ins INS - - A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 3797186 3797187 - A INS NUP98 ENST00000324932 human ensembl 74_37 -1 known frame_shift_ins c.421_420 p.G140fs 1.000:1.000 NULL pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59 - no_errors NUP98 HGNC ENSG00000110713 247 0 0 201 50 19.9203 AMBRA1 0 genome.wustl.edu 37 11 46564257 46564257 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 46564257 46564257 G - DEL AMBRA1 ENST00000458649 human ensembl 74_37 -1 known frame_shift_del c.1310 p.P437fs 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 137 0 0 106 23 17.8295 FOLH1 0 genome.wustl.edu 37 11 49179535 49179535 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 49179535 49179535 T - DEL FOLH1 ENST00000256999 human ensembl 74_37 -1 known frame_shift_del c.1501 p.S501fs 0.999 NULL pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 147 0 0 127 24 15.894 OR8H1 0 genome.wustl.edu 37 11 56057709 56057710 + Frame_Shift_Ins INS - - A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 56057709 56057710 - A INS OR8H1 ENST00000313022 human ensembl 74_37 -1 known frame_shift_ins c.830_829 p.Y277fs 0.003:0.003 pfam_GPCR_Rhodpsn,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 154 0 0 110 35 24.1379 MARK2 0 genome.wustl.edu 37 11 63672464 63672464 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 63672464 63672464 G - DEL MARK2 ENST00000402010 human ensembl 74_37 +1 known frame_shift_del c.1883 p.A630fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK2 HGNC ENSG00000072518 214 0 0 161 33 17.0103 MALAT1 0 genome.wustl.edu 37 11 65269498 65269498 + RNA DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 65269498 65269498 T - DEL MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MALAT1 HGNC ENSG00000251562 51 0 0 37 7 15.9091 MALAT1 0 genome.wustl.edu 37 11 65273849 65273849 + RNA DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 65273849 65273849 T - DEL MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MALAT1 HGNC ENSG00000251562 26 0 0 30 8 21.0526 ILK 0 genome.wustl.edu 37 11 6629352 6629353 + Frame_Shift_Ins INS - - G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 6629352 6629353 - G INS ILK ENST00000299421 human ensembl 74_37 +1 known frame_shift_ins c.166_167 p.A58fs 1.000:1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Integrin-linked_kinase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Integrin-linked_kinase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ILK HGNC ENSG00000166333 68 0 0 55 12 17.9104 TBX10 0 genome.wustl.edu 37 11 67402372 67402373 + Frame_Shift_Ins INS - - G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 67402372 67402373 - G INS TBX10 ENST00000335385 human ensembl 74_37 -1 known frame_shift_ins c.292_291 p.F97fs 1.000:1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX10 HGNC ENSG00000167800 82 0 0 44 18 29.0323 MRGPRF 0 genome.wustl.edu 37 11 68777229 68777229 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 68777229 68777229 G - DEL MRGPRF ENST00000320913 human ensembl 74_37 -1 novel frame_shift_del c.141 p.F48fs 0.000 NULL NULL - no_errors MRGPRF HGNC ENSG00000172935 21 0 0 26 7 21.2121 AMOTL1 0 genome.wustl.edu 37 11 94533230 94533230 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 11 94533230 94533230 G - DEL AMOTL1 ENST00000433060 human ensembl 74_37 +1 known frame_shift_del c.874 p.S295fs 0.858 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL1 HGNC ENSG00000166025 134 0 0 101 30 22.9008 GOLGA2P5 0 genome.wustl.edu 37 12 100550442 100550442 + RNA DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 100550442 100550442 A - DEL GOLGA2P5 ENST00000397112 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors GOLGA2B Clone_based_vega_gene ENSG00000238105 35 0 0 32 7 17.9487 ACTR6 0 genome.wustl.edu 37 12 100613799 100613799 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 100613799 100613799 T - DEL ACTR6 ENST00000188312 human ensembl 74_37 +1 known frame_shift_del c.936 p.F314fs 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR6 HGNC ENSG00000075089 73 0 0 61 23 27.381 OAS2 0 genome.wustl.edu 37 12 113442830 113442830 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 113442830 113442830 A - DEL OAS2 ENST00000342315 human ensembl 74_37 +1 known frame_shift_del c.1271 p.N426fs 0.000 pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS2 HGNC ENSG00000111335 57 0 0 50 10 16.6667 KSR2 0 genome.wustl.edu 37 12 117977605 117977605 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 117977605 117977605 G - DEL KSR2 ENST00000339824 human ensembl 74_37 -1 known frame_shift_del c.1606 p.L536fs 0.999 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors KSR2 HGNC ENSG00000171435 95 0 0 69 16 18.8235 ITPR2 0 genome.wustl.edu 37 12 26568291 26568292 + Frame_Shift_Ins INS - - A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 26568291 26568292 - A INS ITPR2 ENST00000381340 human ensembl 74_37 -1 known frame_shift_ins c.7251_7250 p.L2417fs 1.000:1.000 pfam_Ion_trans_dom pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 100 0 0 79 42 34.7107 GXYLT1 0 genome.wustl.edu 37 12 42481629 42481629 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 42481629 42481629 T - DEL GXYLT1 ENST00000398675 human ensembl 74_37 -1 known frame_shift_del c.1282 p.S428fs 1.000 NULL pfam_Glyco_trans_8 - no_errors GXYLT1 HGNC ENSG00000151233 52 0 0 41 11 21.1538 FAM186B 0 genome.wustl.edu 37 12 49993929 49993931 + In_Frame_Del DEL CTC CTC - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 49993929 49993931 CTC - DEL FAM186B ENST00000257894 human ensembl 74_37 -1 known in_frame_del c.1494_1492 p.E498in_frame_del 1.000:1.000:1.000 NULL NULL - no_errors FAM186B HGNC ENSG00000135436 108 0 0 81 12 12.9032 PRPF40B 0 genome.wustl.edu 37 12 50025258 50025258 + Frame_Shift_Del DEL C C - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 50025258 50025258 C - DEL PRPF40B ENST00000548825 human ensembl 74_37 +1 known frame_shift_del c.159 p.M56fs 0.994 NULL pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors PRPF40B HGNC ENSG00000110844 183 0 0 132 37 21.8935 MBD6 0 genome.wustl.edu 37 12 57921401 57921401 + Frame_Shift_Del DEL C C - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 57921401 57921401 C - DEL MBD6 ENST00000355673 human ensembl 74_37 +1 known frame_shift_del c.2194 p.Q734fs 1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 252 0 0 159 39 19.697 CHD4 0 genome.wustl.edu 37 12 6708947 6708947 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 6708947 6708947 G - DEL CHD4 ENST00000309577 human ensembl 74_37 -1 known frame_shift_del c.1474 p.R492fs 1.000 pfam_Znf_PHD-finger,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 118 0 0 72 21 22.5806 ATN1 0 genome.wustl.edu 37 12 7045189 7045189 + Frame_Shift_Del DEL C C - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 7045189 7045189 C - DEL ATN1 ENST00000356654 human ensembl 74_37 +1 known frame_shift_del c.759 p.P255fs 1.000 NULL pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 39 0 0 50 6 10.7143 LPCAT3 0 genome.wustl.edu 37 12 7092599 7092600 + Frame_Shift_Ins INS - - A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 7092599 7092600 - A INS LPCAT3 ENST00000261407 human ensembl 74_37 -1 known frame_shift_ins c.253_252 p.N84fs 1.000:1.000 NULL pfam_MBOAT_fam - no_errors LPCAT3 HGNC ENSG00000111684 304 0 0 203 75 26.9784 LGR5 0 genome.wustl.edu 37 12 71977919 71977920 + Frame_Shift_Del DEL CT CT - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 71977919 71977920 CT - DEL LGR5 ENST00000266674 human ensembl 74_37 +1 known frame_shift_del c.2129_2130 p.C712fs 1.000:0.013 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors LGR5 HGNC ENSG00000139292 274 0 0 201 58 22.3938 CCDC41 0 genome.wustl.edu 37 12 94725476 94725477 + Frame_Shift_Ins INS - - T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 94725476 94725477 - T INS CCDC41 ENST00000339839 human ensembl 74_37 -1 known frame_shift_ins c.1707_1706 p.R570fs 1.000:1.000 NULL NULL - no_errors CCDC41 HGNC ENSG00000173588 218 0 0 165 61 26.9912 TMPO 0 genome.wustl.edu 37 12 98921671 98921672 + Frame_Shift_Ins INS - - A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 12 98921671 98921672 - A INS TMPO ENST00000266732 human ensembl 74_37 +1 known frame_shift_ins c.287_288 p.T99fs 1.000:1.000 NULL pfam_LAP2alpha,pfam_LEM-like_dom,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom,pfscan_LEM-like_dom - no_errors TMPO HGNC ENSG00000120802 114 0 0 94 35 27.1318 FOXG1 0 genome.wustl.edu 37 14 29236939 29236939 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 14 29236939 29236939 G - DEL FOXG1 ENST00000313071 human ensembl 74_37 +1 known frame_shift_del c.454 p.E154fs 0.934 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXG1 HGNC ENSG00000176165 11 0 0 6 3 33.3333 PAX9 0 genome.wustl.edu 37 14 37145547 37145547 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 14 37145547 37145547 G - DEL PAX9 ENST00000361487 human ensembl 74_37 +1 known frame_shift_del c.916 p.G307fs 0.982 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX9 HGNC ENSG00000198807 217 0 0 205 23 10.0877 FANCM 0 genome.wustl.edu 37 14 45645955 45645955 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 14 45645955 45645955 A - DEL FANCM ENST00000267430 human ensembl 74_37 +1 known frame_shift_del c.3998 p.V1336fs 0.008 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 58 0 0 76 4 5 MLH3 0 genome.wustl.edu 37 14 75514338 75514338 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 14 75514338 75514338 T - DEL MLH3 ENST00000355774 human ensembl 74_37 -1 known frame_shift_del c.2021 p.N674fs 0.001 NULL pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_dom,smart_MutL_C - no_errors MLH3 HGNC ENSG00000119684 113 0 0 95 34 26.3566 NRDE2 0 genome.wustl.edu 37 14 90782994 90782994 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 14 90782994 90782994 G - DEL NRDE2 ENST00000354366 human ensembl 74_37 -1 known frame_shift_del c.335 p.T112fs 0.011 NULL pfam_NRDE-2 - no_errors NRDE2 HGNC ENSG00000119720 481 0 0 383 73 16.0088 BTBD7 0 genome.wustl.edu 37 14 93760864 93760865 + Frame_Shift_Ins INS - - A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 14 93760864 93760865 - A INS BTBD7 ENST00000334746 human ensembl 74_37 -1 known frame_shift_ins c.502_501 p.K167fs 1.000:1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC ENSG00000011114 51 0 0 62 15 19.4805 UNC79 0 genome.wustl.edu 37 14 94079256 94079256 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 14 94079256 94079256 A - DEL UNC79 ENST00000553484 human ensembl 74_37 +1 known frame_shift_del c.3934 p.K1312fs 1.000 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 97 0 0 56 27 32.5301 INO80 0 genome.wustl.edu 37 15 41340436 41340437 + Frame_Shift_Del DEL AT AT - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 15 41340436 41340437 AT - DEL INO80 ENST00000361937 human ensembl 74_37 -1 known frame_shift_del c.2615_2614 p.I872fs 1.000:1.000 superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors INO80 HGNC ENSG00000128908 209 0 0 135 46 25.4144 RTF1 0 genome.wustl.edu 37 15 41750018 41750019 + Frame_Shift_Del DEL AG AG - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 15 41750018 41750019 AG - DEL RTF1 ENST00000389629 human ensembl 74_37 +1 known frame_shift_del c.606_607 p.E205fs 0.997:1.000 NULL pfam_Plus-3,smart_Plus3-dom_subgr - no_errors RTF1 HGNC ENSG00000137815 165 0 0 141 21 12.963 DMXL2 0 genome.wustl.edu 37 15 51773539 51773540 + Frame_Shift_Ins INS - - T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 15 51773539 51773540 - T INS DMXL2 ENST00000543779 human ensembl 74_37 -1 known frame_shift_ins c.5764_5763 p.D1921fs 0.885:0.881 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 233 0 0 187 45 19.3966 FAM214A 0 genome.wustl.edu 37 15 52901068 52901069 + Frame_Shift_Ins INS - - T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 15 52901068 52901069 - T INS FAM214A ENST00000261844 human ensembl 74_37 -1 known frame_shift_ins c.2043_2042 p.N681fs 0.881:0.001 NULL NULL - no_errors FAM214A HGNC ENSG00000047346 79 0 0 68 22 24.4444 AKAP13 0 genome.wustl.edu 37 15 86077163 86077163 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 15 86077163 86077163 T - DEL AKAP13 ENST00000560302 human ensembl 74_37 +1 known frame_shift_del c.530 p.*180fs 0.002 NULL NULL - no_errors AKAP13 HGNC ENSG00000170776 24 0 0 21 9 30 MYH11 0 genome.wustl.edu 37 16 15820795 15820797 + In_Frame_Del DEL CTT CTT - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 15820795 15820797 CTT - DEL MYH11 ENST00000396324 human ensembl 74_37 -1 known in_frame_del c.3789_3787 p.K1263in_frame_del 1.000:1.000:1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH11 HGNC ENSG00000133392 327 0 0 232 52 18.3099 ARHGAP17 0 genome.wustl.edu 37 16 24960783 24960784 + Frame_Shift_Ins INS - - T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 24960783 24960784 - T INS ARHGAP17 ENST00000289968 human ensembl 74_37 -1 known frame_shift_ins c.1069_1068 p.L356fs 1.000:1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP17 HGNC ENSG00000140750 80 0 0 69 20 22.4719 ZKSCAN2 0 genome.wustl.edu 37 16 25258123 25258125 + In_Frame_Del DEL TCC TCC - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 25258123 25258125 TCC - DEL ZKSCAN2 ENST00000328086 human ensembl 74_37 -1 known in_frame_del c.1394_1392 p.E465in_frame_del 0.087:0.231:0.221 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN2 HGNC ENSG00000155592 124 0 0 110 23 17.2932 IL21R 0 genome.wustl.edu 37 16 27460530 27460530 + Frame_Shift_Del DEL C C - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 27460530 27460530 C - DEL IL21R ENST00000337929 human ensembl 74_37 +1 known frame_shift_del c.1543 p.R517fs 0.552 NULL superfamily_Fibronectin_type3 - no_errors IL21R HGNC ENSG00000103522 92 0 0 53 10 15.873 SRCAP 0 genome.wustl.edu 37 16 30740725 30740725 + Frame_Shift_Del DEL C C - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 30740725 30740725 C - DEL SRCAP ENST00000262518 human ensembl 74_37 +1 known frame_shift_del c.5959 p.P1988fs 1.000 superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 68 0 0 61 20 24.6914 GLYR1 0 genome.wustl.edu 37 16 4896208 4896208 + Frame_Shift_Del DEL C C - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 4896208 4896208 C - DEL GLYR1 ENST00000321919 human ensembl 74_37 -1 known frame_shift_del c.42 p.K15fs 1.000 pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom pfam_6PGDH_NADP-bd,pfam_PWWP_dom,superfamily_6-PGluconate_DH_C-like,smart_PWWP_dom,pfscan_PWWP_dom - no_errors GLYR1 HGNC ENSG00000140632 231 0 0 221 17 7.14286 NHLRC4 0 genome.wustl.edu 37 16 618167 618167 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 618167 618167 G - DEL NHLRC4 ENST00000424439 human ensembl 74_37 +1 known frame_shift_del c.120 p.G42fs 0.352 NULL pfam_NHL_repeat,pfscan_NHL_repeat_subgr - no_errors NHLRC4 HGNC ENSG00000257108 45 0 0 25 8 24.2424 LRRC36 0 genome.wustl.edu 37 16 67381488 67381488 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 67381488 67381488 A - DEL LRRC36 ENST00000329956 human ensembl 74_37 +1 known frame_shift_del c.482 p.S163fs 0.992 NULL NULL - no_errors LRRC36 HGNC ENSG00000159708 42 0 0 45 9 16.6667 PSKH1 0 genome.wustl.edu 37 16 67943339 67943339 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 67943339 67943339 G - DEL PSKH1 ENST00000291041 human ensembl 74_37 +1 known frame_shift_del c.687 p.G230fs 0.031 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 PSKH1 HGNC ENSG00000159792 66 0 0 63 13 17.1053 HYDIN 0 genome.wustl.edu 37 16 71220808 71220808 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 71220808 71220808 T - DEL HYDIN ENST00000538248 human ensembl 74_37 -1 known frame_shift_del c.72 p.K24fs 0.169 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 75 0 0 54 11 16.9231 NUDT7 0 genome.wustl.edu 37 16 77775613 77775613 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 77775613 77775613 T - DEL NUDT7 ENST00000268533 human ensembl 74_37 +1 known frame_shift_del c.483 p.Y162fs 0.000 superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT7 HGNC ENSG00000140876 124 0 0 89 24 21.2389 NARFL 0 genome.wustl.edu 37 16 786269 786269 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 16 786269 786269 T - DEL NARFL ENST00000251588 human ensembl 74_37 -1 known frame_shift_del c.436 p.I146fs 0.001 pfam_Fe_hydrogenase_lsu_C,superfamily_Fe_hydrogenase pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like - no_errors NARFL HGNC ENSG00000103245 129 0 0 94 23 19.6581 MYOCD 0 genome.wustl.edu 37 17 12626278 12626278 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 12626278 12626278 A - DEL MYOCD ENST00000425538 human ensembl 74_37 +1 known frame_shift_del c.368 p.N125fs 1.000 pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MYOCD HGNC ENSG00000141052 233 0 0 118 79 40.1015 TMEM97 0 genome.wustl.edu 37 17 26653807 26653807 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 26653807 26653807 A - DEL TMEM97 ENST00000226230 human ensembl 74_37 +1 known frame_shift_del c.519 p.K176fs 1.000 pirsf_Transmembrane_6/97 pfam_Transmembrane_6/97,pirsf_Transmembrane_6/97 - no_errors TMEM97 HGNC ENSG00000109084 58 0 0 45 13 22.4138 ATAD5 0 genome.wustl.edu 37 17 29162467 29162467 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 29162467 29162467 A - DEL ATAD5 ENST00000321990 human ensembl 74_37 +1 known frame_shift_del c.1368 p.N458fs 0.473 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD5 HGNC ENSG00000176208 76 0 0 79 8 9.1954 DUSP14 0 genome.wustl.edu 37 17 35872931 35872933 + In_Frame_Del DEL AGA AGA - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 35872931 35872933 AGA - DEL DUSP14 ENST00000394386 human ensembl 74_37 +1 known in_frame_del c.557_559 p.K187in_frame_del 1.000:1.000:1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famB,prints_Atypical_DUSP - no_errors DUSP14 HGNC ENSG00000161326 102 0 0 98 28 22.2222 TNS4 0 genome.wustl.edu 37 17 38652589 38652595 + Frame_Shift_Del DEL GGGTGCA GGGTGCA - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 GGGTGCA GGGTGCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 38652589 38652595 GGGTGCA - DEL TNS4 ENST00000254051 human ensembl 74_37 -1 known frame_shift_del c.89_83 p.L28fs 0.067:0.069:0.072:0.092:0.106:0.095:0.088 NULL pfam_PTB,pfam_SH2,smart_SH2,smart_PTB/PI_dom,pfscan_SH2 - no_errors TNS4 HGNC ENSG00000131746 87 0 0 58 10 14.7059 AOC4P 0 genome.wustl.edu 37 17 41020606 41020606 + RNA DEL C C - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 41020606 41020606 C - DEL AOC4P ENST00000562301 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors AOC4P HGNC ENSG00000260105 41 0 0 38 14 26.9231 NFE2L1 0 genome.wustl.edu 37 17 46128959 46128959 + Frame_Shift_Del DEL C C - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 46128959 46128959 C - DEL NFE2L1 ENST00000362042 human ensembl 74_37 +1 known frame_shift_del c.479 p.P162fs 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L1 HGNC ENSG00000082641 154 0 0 123 28 18.543 COL1A1 0 genome.wustl.edu 37 17 48272956 48272956 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 48272956 48272956 G - DEL COL1A1 ENST00000225964 human ensembl 74_37 -1 known frame_shift_del c.1127 p.P376fs 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL1A1 HGNC ENSG00000108821 151 0 0 104 37 26.2411 RABEP1 0 genome.wustl.edu 37 17 5284683 5284683 + Splice_Site DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 5284683 5284683 G - DEL RABEP1 ENST00000262477 human ensembl 74_37 +1 known splice_site_del c.2371-1 e17-1 1.000 - - - no_errors RABEP1 HGNC ENSG00000029725 79 0 0 35 31 46.9697 TBX4 0 genome.wustl.edu 37 17 59560345 59560345 + Frame_Shift_Del DEL C C - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 59560345 59560345 C - DEL TBX4 ENST00000393853 human ensembl 74_37 +1 known frame_shift_del c.1109 p.P372fs 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX4 HGNC ENSG00000121075 51 0 0 40 12 23.0769 MED13 0 genome.wustl.edu 37 17 60033826 60033826 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 60033826 60033826 T - DEL MED13 ENST00000397786 human ensembl 74_37 -1 known frame_shift_del c.5497 p.S1833fs 1.000 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 84 0 0 71 19 21.1111 MED13 0 genome.wustl.edu 37 17 60072555 60072555 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 60072555 60072555 T - DEL MED13 ENST00000397786 human ensembl 74_37 -1 known frame_shift_del c.2139 p.D714fs 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 109 0 0 111 20 15.2672 NLGN2 0 genome.wustl.edu 37 17 7319293 7319293 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 7319293 7319293 G - DEL NLGN2 ENST00000302926 human ensembl 74_37 +1 known frame_shift_del c.1501 p.D502fs 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN2 HGNC ENSG00000169992 87 0 0 75 23 23.4694 FOXJ1 0 genome.wustl.edu 37 17 74136150 74136150 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 74136150 74136150 G - DEL FOXJ1 ENST00000322957 human ensembl 74_37 -1 known frame_shift_del c.327 p.D110fs 0.994 NULL pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXJ1 HGNC ENSG00000129654 50 0 0 45 11 19.6429 GPS1 0 genome.wustl.edu 37 17 80014373 80014374 + Frame_Shift_Ins INS - - C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 80014373 80014374 - C INS GPS1 ENST00000355130 human ensembl 74_37 +1 known frame_shift_ins c.1183_1184 p.H397fs 1.000:1.000 pfam_PCI_dom,smart_PCI_dom pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom - no_errors GPS1 HGNC ENSG00000169727 62 0 0 36 10 21.7391 HEXDC 0 genome.wustl.edu 37 17 80400298 80400298 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 17 80400298 80400298 G - DEL HEXDC ENST00000337014 human ensembl 74_37 +1 known frame_shift_del c.1588 p.A532fs 0.000 NULL pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF - no_errors HEXDC HGNC ENSG00000169660 89 0 0 67 16 19.2771 ROCK1 0 genome.wustl.edu 37 18 18629104 18629104 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 18 18629104 18629104 G - DEL ROCK1 ENST00000399799 human ensembl 74_37 -1 known frame_shift_del c.363 p.W122fs 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,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Prot_kinase_dom 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 107 0 0 70 28 28.5714 THOC1 0 genome.wustl.edu 37 18 265348 265348 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 18 265348 265348 T - DEL THOC1 ENST00000261600 human ensembl 74_37 -1 known frame_shift_del c.144 p.K48fs 1.000 NULL pfam_THO_THOC1,pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain - no_errors THOC1 HGNC ENSG00000079134 28 0 0 19 11 36.6667 COLEC12 0 genome.wustl.edu 37 18 334972 334972 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 18 334972 334972 G - DEL COLEC12 ENST00000400256 human ensembl 74_37 -1 known frame_shift_del c.1586 p.P529fs 0.119 pfam_Collagen pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC ENSG00000158270 25 0 0 17 9 34.6154 CTIF 0 genome.wustl.edu 37 18 46284491 46284491 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 18 46284491 46284491 G - DEL CTIF ENST00000382998 human ensembl 74_37 +1 known frame_shift_del c.786 p.E264fs 1.000 NULL pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors CTIF HGNC ENSG00000134030 84 0 0 63 25 28.4091 NEDD4L 0 genome.wustl.edu 37 18 55990515 55990515 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 18 55990515 55990515 A - DEL NEDD4L ENST00000400345 human ensembl 74_37 +1 known frame_shift_del c.462 p.N156fs 0.010 superfamily_C2_dom pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom,prints_C2_dom - no_errors NEDD4L HGNC ENSG00000049759 17 0 0 24 4 14.2857 SOGA2 0 genome.wustl.edu 37 18 8784095 8784095 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 18 8784095 8784095 G - DEL SOGA2 ENST00000359865 human ensembl 74_37 +1 known frame_shift_del c.985 p.G330fs 0.001 pfam_SOGA pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 121 0 0 134 12 8.21918 ZNF333 0 genome.wustl.edu 37 19 14815865 14815865 + Splice_Site DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 14815865 14815865 G - DEL ZNF333 ENST00000292530 human ensembl 74_37 +1 known splice_site_del c.307-1 e5-1 0.045 - - - no_errors ZNF333 HGNC ENSG00000160961 67 0 0 44 13 22.807 SUGP1 0 genome.wustl.edu 37 19 19414748 19414748 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 19414748 19414748 G - DEL SUGP1 ENST00000334782 human ensembl 74_37 -1 known frame_shift_del c.643 p.H215fs 0.002 NULL NULL - no_errors SUGP1 HGNC ENSG00000105705 199 0 0 149 43 22.3958 JSRP1 0 genome.wustl.edu 37 19 2252749 2252750 + Frame_Shift_Ins INS - - G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 2252749 2252750 - G INS JSRP1 ENST00000300961 human ensembl 74_37 -1 known frame_shift_ins c.575_574 p.R192fs 0.000:0.190 NULL NULL - no_errors JSRP1 HGNC ENSG00000167476 95 0 0 82 14 14.5833 KIRREL2 0 genome.wustl.edu 37 19 36357214 36357214 + Frame_Shift_Del DEL C C - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 36357214 36357214 C - DEL KIRREL2 ENST00000360202 human ensembl 74_37 +1 known frame_shift_del c.1947 p.C652fs 0.003 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL2 HGNC ENSG00000126259 88 0 0 89 36 28.8 TJP3 0 genome.wustl.edu 37 19 3738930 3738933 + Frame_Shift_Del DEL TCCT TCCT - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 TCCT TCCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 3738930 3738933 TCCT - DEL TJP3 ENST00000262968 human ensembl 74_37 +1 known frame_shift_del c.1528_1531 p.F511fs 1.000:1.000:1.000:1.000 superfamily_PDZ,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_PDZ,pfam_SH3_2,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS3,prints_ZonOcculdens - no_errors TJP3 HGNC ENSG00000105289 149 0 0 94 27 22.314 HKR1 0 genome.wustl.edu 37 19 37854504 37854504 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 37854504 37854504 G - DEL HKR1 ENST00000324411 human ensembl 74_37 +1 known frame_shift_del c.1807 p.K605fs 1.000 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 HKR1 HGNC ENSG00000181666 114 0 0 85 21 19.8113 SIPA1L3 0 genome.wustl.edu 37 19 38590669 38590669 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 38590669 38590669 G - DEL SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known frame_shift_del c.1733 p.G579fs 0.997 NULL pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 114 0 0 109 14 11.3821 BCKDHA 0 genome.wustl.edu 37 19 41916544 41916544 + Frame_Shift_Del DEL C C - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 41916544 41916544 C - DEL BCKDHA ENST00000595085 human ensembl 74_37 +1 known frame_shift_del c.213 p.R74fs 0.000 NULL pfam_DH_E1,pfam_Transketolase_N - no_errors BCKDHA HGNC ENSG00000248098 81 0 0 63 15 19.2308 CKM 0 genome.wustl.edu 37 19 45810056 45810058 + In_Frame_Del DEL CTT CTT - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 45810056 45810058 CTT - DEL CKM ENST00000221476 human ensembl 74_37 -1 known in_frame_del c.1098_1096 p.K366in_frame_del 1.000:1.000:1.000 pfam_ATP-guanido_PTrfase_cat pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N - no_errors CKM HGNC ENSG00000104879 344 0 0 270 82 23.2955 DPP9 0 genome.wustl.edu 37 19 4685774 4685774 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 4685774 4685774 G - DEL DPP9 ENST00000262960 human ensembl 74_37 -1 known frame_shift_del c.1895 p.P632fs 0.996 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors DPP9 HGNC ENSG00000142002 49 0 0 62 7 10.1449 FGF21 0 genome.wustl.edu 37 19 49261357 49261358 + Frame_Shift_Ins INS - - C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 49261357 49261358 - C INS FGF21 ENST00000222157 human ensembl 74_37 +1 known frame_shift_ins c.510_511 p.A172fs 0.012:0.018 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF21 HGNC ENSG00000105550 29 0 0 32 2 5.88235 PPP1R15A 0 genome.wustl.edu 37 19 49379079 49379079 + Frame_Shift_Del DEL C C - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 49379079 49379079 C - DEL PPP1R15A ENST00000200453 human ensembl 74_37 +1 known frame_shift_del c.1874 p.I627fs 0.001 NULL pfam_Prot_Pase1_reg-su15A/B_C - no_errors PPP1R15A HGNC ENSG00000087074 401 0 0 337 83 19.7619 ZNF83 0 genome.wustl.edu 37 19 53157658 53157659 + Splice_Site INS - - A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 53157658 53157659 - A INS ZNF83 ENST00000600457 human ensembl 74_37 -1 known splice_site_ins c.NULL NULL 0.256:0.165 - - - no_errors ZNF83 HGNC ENSG00000167766 51 0 0 46 12 20.6897 LILRA6 0 genome.wustl.edu 37 19 54744724 54744725 + Frame_Shift_Ins INS - - G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 54744724 54744725 - G INS LILRA6 ENST00000419410 human ensembl 74_37 -1 known frame_shift_ins c.938_937 p.L313fs 0.971:0.971 smart_Ig_sub,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRA6 HGNC ENSG00000244482 149 0 0 119 19 13.7681 SAFB2 0 genome.wustl.edu 37 19 5587281 5587282 + Frame_Shift_Ins INS - - G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 5587281 5587282 - G INS SAFB2 ENST00000252542 human ensembl 74_37 -1 known frame_shift_ins c.2835_2834 p.Y946fs 0.007:0.100 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB2 HGNC ENSG00000130254 26 0 0 32 9 21.9512 ZNF524 0 genome.wustl.edu 37 19 56113688 56113688 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 56113688 56113688 G - DEL ZNF524 ENST00000301073 human ensembl 74_37 +1 known frame_shift_del c.210 p.V72fs 0.863 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF524 HGNC ENSG00000171443 14 0 0 4 3 42.8571 C3 0 genome.wustl.edu 37 19 6697481 6697481 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 19 6697481 6697481 G - DEL C3 ENST00000245907 human ensembl 74_37 -1 known frame_shift_del c.2670 p.K891fs 0.014 NULL pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 113 0 0 93 11 10.5769 POTEJ 0 genome.wustl.edu 37 2 131414272 131414272 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 131414272 131414272 A - DEL POTEJ ENST00000409602 human ensembl 74_37 +1 novel frame_shift_del c.1939 p.K649fs 0.001 NULL pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEJ HGNC ENSG00000222038 89 0 0 96 10 9.43396 AMER3 0 genome.wustl.edu 37 2 131521308 131521308 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 131521308 131521308 G - DEL AMER3 ENST00000321420 human ensembl 74_37 +1 known frame_shift_del c.1663 p.A557fs 0.000 NULL pfam_Uncharacterised_FAM123 - no_errors AMER3 HGNC ENSG00000178171 25 0 0 15 10 40 NCKAP5 0 genome.wustl.edu 37 2 133971293 133971293 + Frame_Shift_Del DEL C C - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 133971293 133971293 C - DEL NCKAP5 ENST00000317721 human ensembl 74_37 -1 known frame_shift_del c.202 p.A68fs 1.000 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 49 0 0 39 17 30.3571 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 148683686 148683686 A - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.1303 p.K437fs 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,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 131 0 0 63 48 43.2432 PLA2R1 0 genome.wustl.edu 37 2 160813055 160813055 + Frame_Shift_Del DEL C C - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 160813055 160813055 C - DEL PLA2R1 ENST00000283243 human ensembl 74_37 -1 known frame_shift_del c.2988 p.T997fs 0.002 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors PLA2R1 HGNC ENSG00000153246 108 0 0 87 30 25.641 XIRP2 0 genome.wustl.edu 37 2 168099958 168099958 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 168099958 168099958 G - DEL XIRP2 ENST00000295237 human ensembl 74_37 +1 known frame_shift_del c.2056 p.D688fs 0.997 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 79 0 0 85 6 6.59341 PPIG 0 genome.wustl.edu 37 2 170493804 170493804 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 170493804 170493804 A - DEL PPIG ENST00000260970 human ensembl 74_37 +1 known frame_shift_del c.2036 p.K681fs 0.885 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIG HGNC ENSG00000138398 129 0 0 110 24 17.9104 ANKAR 0 genome.wustl.edu 37 2 190541314 190541315 + Frame_Shift_Ins INS - - T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 190541314 190541315 - T INS ANKAR ENST00000313581 human ensembl 74_37 +1 known frame_shift_ins c.98_99 p.E36fs 1.000:1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Armadillo,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Armadillo - no_errors ANKAR HGNC ENSG00000151687 60 0 0 29 15 34.0909 SGOL2 0 genome.wustl.edu 37 2 201436992 201436992 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 201436992 201436992 A - DEL SGOL2 ENST00000357799 human ensembl 74_37 +1 known frame_shift_del c.1923 p.G644fs 0.002 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 186 0 0 157 35 18.2292 BMPR2 0 genome.wustl.edu 37 2 203332384 203332384 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 203332384 203332384 T - DEL BMPR2 ENST00000374580 human ensembl 74_37 +1 known frame_shift_del c.390 p.P132fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMPR2 HGNC ENSG00000204217 71 0 0 64 22 25.5814 PARD3B 0 genome.wustl.edu 37 2 206166297 206166298 + Frame_Shift_Ins INS - - A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 206166297 206166298 - A INS PARD3B ENST00000406610 human ensembl 74_37 +1 known frame_shift_ins c.2502_2503 p.T836fs 0.617:0.996 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 96 0 0 67 10 12.987 GCSHP3 0 genome.wustl.edu 37 2 206980715 206980715 + RNA DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 206980715 206980715 T - DEL GCSHP3 ENST00000453039 human ensembl 74_37 +1 known rna NULL NULL 0.033 - - - no_errors AC007383.4 Clone_based_vega_gene ENSG00000231955 9 0 0 6 2 25 MAP2 0 genome.wustl.edu 37 2 210561667 210561667 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 210561667 210561667 A - DEL MAP2 ENST00000360351 human ensembl 74_37 +1 known frame_shift_del c.4414 p.T1474fs 1.000 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 57 0 0 42 13 23.6364 KANSL1L 0 genome.wustl.edu 37 2 210887679 210887680 + Frame_Shift_Ins INS - - T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 210887679 210887680 - T INS KANSL1L ENST00000281772 human ensembl 74_37 -1 known frame_shift_ins c.2958_2957 p.N986fs 0.402:0.980 NULL NULL - no_errors KANSL1L HGNC ENSG00000144445 63 0 0 46 16 25.8065 ABCB6 0 genome.wustl.edu 37 2 220081103 220081103 + Frame_Shift_Del DEL C C - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 220081103 220081103 C - DEL ABCB6 ENST00000265316 human ensembl 74_37 -1 known frame_shift_del c.953 p.G318fs 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB6 HGNC ENSG00000115657 62 0 0 52 8 13.3333 STK11IP 0 genome.wustl.edu 37 2 220478946 220478946 + Frame_Shift_Del DEL C C - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 220478946 220478946 C - DEL STK11IP ENST00000456909 human ensembl 74_37 +1 novel frame_shift_del c.2780 p.Q929fs 1.000 NULL NULL - no_errors STK11IP HGNC ENSG00000144589 87 0 0 61 14 18.6667 UGT1A7 0 genome.wustl.edu 37 2 234590734 234590735 + Frame_Shift_Ins INS - - G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 234590734 234590735 - G INS UGT1A7 ENST00000373426 human ensembl 74_37 +1 known frame_shift_ins c.151_152 p.H53fs 0.301:0.293 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A7 HGNC ENSG00000244122 167 0 0 109 36 24.8276 HDAC4 0 genome.wustl.edu 37 2 240033244 240033244 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 240033244 240033244 G - DEL HDAC4 ENST00000345617 human ensembl 74_37 -1 known frame_shift_del c.1941 p.T648fs 0.522 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC4 HGNC ENSG00000068024 43 0 0 29 7 19.4444 CCDC88A 0 genome.wustl.edu 37 2 55562112 55562112 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 55562112 55562112 T - DEL CCDC88A ENST00000436346 human ensembl 74_37 -1 known frame_shift_del c.1845 p.E616fs 1.000 NULL pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 21 0 0 25 11 30.5556 VPS54 0 genome.wustl.edu 37 2 64147023 64147024 + Frame_Shift_Ins INS - - T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 64147023 64147024 - T INS VPS54 ENST00000272322 human ensembl 74_37 -1 known frame_shift_ins c.2158_2157 p.S719fs 0.994:0.999 NULL pfam_Vps54,pfam_Vacuolar_sorting-assoc_54 - no_errors VPS54 HGNC ENSG00000143952 37 0 0 32 9 21.9512 FBXO48 0 genome.wustl.edu 37 2 68692195 68692195 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 68692195 68692195 T - DEL FBXO48 ENST00000377957 human ensembl 74_37 -1 known frame_shift_del c.83 p.N28fs 0.001 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO48 HGNC ENSG00000204923 65 0 0 53 14 20.8955 VAX2 0 genome.wustl.edu 37 2 71160174 71160174 + Frame_Shift_Del DEL C C - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 71160174 71160174 C - DEL VAX2 ENST00000234392 human ensembl 74_37 +1 known frame_shift_del c.713 p.P240fs 0.296 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors VAX2 HGNC ENSG00000116035 40 0 0 30 5 14.2857 MPHOSPH10 0 genome.wustl.edu 37 2 71360642 71360643 + Frame_Shift_Ins INS - - T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 71360642 71360643 - T INS MPHOSPH10 ENST00000244230 human ensembl 74_37 +1 known frame_shift_ins c.704_705 p.E238fs 0.999:0.995 pfam_Mpp10,pirsf_snoRNP_Mpp10 pfam_Mpp10,pirsf_snoRNP_Mpp10 - no_errors MPHOSPH10 HGNC ENSG00000124383 129 0 0 83 23 21.6981 DUSP11 0 genome.wustl.edu 37 2 74007024 74007026 + In_Frame_Del DEL CTT CTT - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 74007024 74007026 CTT - DEL DUSP11 ENST00000272444 human ensembl 74_37 -1 known in_frame_del c.219_217 p.K73in_frame_del 1.000:0.999:0.993 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase - no_errors DUSP11 HGNC ENSG00000144048 170 0 0 101 21 17.2131 EIF5B 0 genome.wustl.edu 37 2 99980750 99980750 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 2 99980750 99980750 A - DEL EIF5B ENST00000289371 human ensembl 74_37 +1 known frame_shift_del c.1154 p.R387fs 1.000 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 116 0 0 97 39 28.6765 BTBD3 0 genome.wustl.edu 37 20 11899094 11899095 + Frame_Shift_Ins INS - - A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 11899094 11899095 - A INS BTBD3 ENST00000378226 human ensembl 74_37 +1 known frame_shift_ins c.171_172 p.K59fs 1.000:1.000 NULL pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD3 HGNC ENSG00000132640 251 0 0 271 73 21.2209 CSRP2BP 0 genome.wustl.edu 37 20 18163929 18163930 + Frame_Shift_Ins INS - - T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 18163929 18163930 - T INS CSRP2BP ENST00000435364 human ensembl 74_37 +1 known frame_shift_ins c.1971_1972 p.W659fs 0.998:1.000 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors CSRP2BP HGNC ENSG00000149474 181 0 0 248 39 13.5889 RALGAPA2 0 genome.wustl.edu 37 20 20453589 20453589 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 20453589 20453589 A - DEL RALGAPA2 ENST00000202677 human ensembl 74_37 -1 known frame_shift_del c.5379 p.F1793fs 1.000 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA2 HGNC ENSG00000188559 57 0 0 64 13 16.8831 NCOA6 0 genome.wustl.edu 37 20 33345220 33345220 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 33345220 33345220 G - DEL NCOA6 ENST00000359003 human ensembl 74_37 -1 known frame_shift_del c.1331 p.P444fs 1.000 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 166 0 0 183 27 12.8571 RBL1 0 genome.wustl.edu 37 20 35696449 35696449 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 35696449 35696449 A - DEL RBL1 ENST00000373664 human ensembl 74_37 -1 known frame_shift_del c.431 p.L144fs 1.000 pfam_RB_N pfam_RB_A,pfam_RB_B,pfam_RB_N,pfam_RB_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL1 HGNC ENSG00000080839 90 0 0 110 6 5.17241 PABPC1L 0 genome.wustl.edu 37 20 43561750 43561750 + Frame_Shift_Del DEL C C - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 43561750 43561750 C - DEL PABPC1L ENST00000217073 human ensembl 74_37 +1 known frame_shift_del c.1368 p.P458fs 0.001 tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC1L HGNC ENSG00000101104 26 0 0 33 9 21.4286 PIGT 0 genome.wustl.edu 37 20 44049195 44049195 + Frame_Shift_Del DEL C C - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 44049195 44049195 C - DEL PIGT ENST00000279036 human ensembl 74_37 +1 known frame_shift_del c.895 p.P300fs 0.029 pfam_PIG-T pfam_PIG-T - no_errors PIGT HGNC ENSG00000124155 51 0 0 68 16 19.0476 MMP9 0 genome.wustl.edu 37 20 44641176 44641176 + Frame_Shift_Del DEL C C - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 44641176 44641176 C - DEL MMP9 ENST00000372330 human ensembl 74_37 +1 known frame_shift_del c.1285 p.L431fs 0.746 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP9 HGNC ENSG00000100985 122 0 0 135 36 21.0526 SULF2 0 genome.wustl.edu 37 20 46300955 46300955 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 46300955 46300955 T - DEL SULF2 ENST00000359930 human ensembl 74_37 -1 known frame_shift_del c.1563 p.K521fs 0.985 superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF2 HGNC ENSG00000196562 97 0 0 114 24 17.3913 CABLES2 0 genome.wustl.edu 37 20 60967476 60967476 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 60967476 60967476 G - DEL CABLES2 ENST00000279101 human ensembl 74_37 -1 known frame_shift_del c.1060 p.H354fs 1.000 superfamily_Cyclin-like,pirsf_Cdk5/c-Abl_linker_Cables pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cdk5/c-Abl_linker_Cables - no_errors CABLES2 HGNC ENSG00000149679 192 0 0 233 47 16.7857 CHRNA4 0 genome.wustl.edu 37 20 61982302 61982302 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 61982302 61982302 G - DEL CHRNA4 ENST00000370263 human ensembl 74_37 -1 known frame_shift_del c.461 p.P154fs 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA4 HGNC ENSG00000101204 84 0 0 100 13 11.5044 PTK6 0 genome.wustl.edu 37 20 62163938 62163939 + Frame_Shift_Ins INS - - C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 20 62163938 62163939 - C INS PTK6 ENST00000217185 human ensembl 74_37 -1 known frame_shift_ins c.773_772 p.D258fs 1.000:1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors PTK6 HGNC ENSG00000101213 75 0 0 93 8 7.92079 LCA5L 0 genome.wustl.edu 37 21 40782015 40782015 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 21 40782015 40782015 T - DEL LCA5L ENST00000288350 human ensembl 74_37 -1 known frame_shift_del c.1172 p.K391fs 0.846 NULL NULL - no_errors LCA5L HGNC ENSG00000157578 53 0 0 47 19 28.7879 RRP1B 0 genome.wustl.edu 37 21 45095033 45095033 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 21 45095033 45095033 G - DEL RRP1B ENST00000340648 human ensembl 74_37 +1 known frame_shift_del c.538 p.K182fs 1.000 pfam_Nop52 pfam_Nop52 - no_errors RRP1B HGNC ENSG00000160208 148 0 0 150 9 5.66038 TSPEAR 0 genome.wustl.edu 37 21 45987773 45987773 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 21 45987773 45987773 G - DEL TSPEAR ENST00000323084 human ensembl 74_37 -1 known frame_shift_del c.199 p.R67fs 0.978 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC ENSG00000175894 127 0 0 81 20 19.802 KRTAP10-6 0 genome.wustl.edu 37 21 46011916 46011916 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 21 46011916 46011916 G - DEL KRTAP10-6 ENST00000400368 human ensembl 74_37 -1 known frame_shift_del c.450 p.C151fs 0.973 NULL NULL - no_errors KRTAP10-6 HGNC ENSG00000188155 367 0 0 369 21 5.38462 CECR1 0 genome.wustl.edu 37 22 17663531 17663531 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 22 17663531 17663531 T - DEL CECR1 ENST00000262607 human ensembl 74_37 -1 known frame_shift_del c.1202 p.K401fs 0.979 pfam_A/AMP_deaminase_dom,tigrfam_Ad_deam-like pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like - no_errors CECR1 HGNC ENSG00000093072 219 0 0 131 42 24.2775 BCR 0 genome.wustl.edu 37 22 23523816 23523816 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 22 23523816 23523816 G - DEL BCR ENST00000305877 human ensembl 74_37 +1 known frame_shift_del c.669 p.D225fs 0.013 NULL pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors BCR HGNC ENSG00000186716 70 0 0 44 24 35.2941 GAS2L1 0 genome.wustl.edu 37 22 29708273 29708273 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 22 29708273 29708273 G - DEL GAS2L1 ENST00000406549 human ensembl 74_37 +1 putative frame_shift_del c.1152 p.P387fs 0.001 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L1 HGNC ENSG00000185340 77 0 0 77 21 21.4286 TMEM45A 0 genome.wustl.edu 37 3 100274057 100274058 + Frame_Shift_Ins INS - - G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 100274057 100274058 - G INS TMEM45A ENST00000323523 human ensembl 74_37 +1 known frame_shift_ins c.2_3 p.N3fs 1.000:1.000 NULL pfam_DUF716_TMEM45 - no_errors TMEM45A HGNC ENSG00000181458 187 0 0 161 24 12.973 BBX 0 genome.wustl.edu 37 3 107491918 107491918 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 107491918 107491918 A - DEL BBX ENST00000325805 human ensembl 74_37 +1 known frame_shift_del c.1350 p.K452fs 1.000 NULL pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors BBX HGNC ENSG00000114439 86 0 0 66 27 29.0323 CAND2 0 genome.wustl.edu 37 3 12875432 12875434 + In_Frame_Del DEL AGA AGA - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 12875432 12875434 AGA - DEL CAND2 ENST00000456430 human ensembl 74_37 +1 known in_frame_del c.3662_3664 p.K1222in_frame_del 1.000:1.000:1.000 NULL pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND2 HGNC ENSG00000144712 182 0 0 139 14 9.15033 AMOTL2 0 genome.wustl.edu 37 3 134086562 134086562 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 134086562 134086562 G - DEL AMOTL2 ENST00000249883 human ensembl 74_37 -1 known frame_shift_del c.818 p.P273fs 0.006 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL2 HGNC ENSG00000114019 45 0 0 36 6 14.2857 CEP63 0 genome.wustl.edu 37 3 134251733 134251733 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 134251733 134251733 A - DEL CEP63 ENST00000337090 human ensembl 74_37 +1 known frame_shift_del c.432 p.I146fs 1.000 NULL NULL - no_errors CEP63 HGNC ENSG00000182923 39 0 0 26 7 21.2121 TFDP2 0 genome.wustl.edu 37 3 141724321 141724321 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 141724321 141724321 T - DEL TFDP2 ENST00000489671 human ensembl 74_37 -1 known frame_shift_del c.148 p.T50fs 1.000 pirsf_Transcrpt_fac_DP pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP - no_errors TFDP2 HGNC ENSG00000114126 38 0 0 24 11 31.4286 PBX2P1 0 genome.wustl.edu 37 3 142895211 142895211 + RNA DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 142895211 142895211 G - DEL PBX2P1 ENST00000560287 human ensembl 74_37 +1 known rna NULL NULL 0.341 - - - no_errors PBX2P1 HGNC ENSG00000244171 22 0 0 6 6 50 GYG1 0 genome.wustl.edu 37 3 148714559 148714560 + Frame_Shift_Del DEL AG AG - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 148714559 148714560 AG - DEL GYG1 ENST00000345003 human ensembl 74_37 +1 known frame_shift_del c.349_350 p.E118fs 1.000:1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GYG1 HGNC ENSG00000163754 85 0 0 71 23 24.4681 BCHE 0 genome.wustl.edu 37 3 165547795 165547795 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 165547795 165547795 T - DEL BCHE ENST00000264381 human ensembl 74_37 -1 known frame_shift_del c.1027 p.T343fs 0.991 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 52 0 0 40 11 21.5686 MASP1 0 genome.wustl.edu 37 3 186953595 186953596 + Frame_Shift_Ins INS - - C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 186953595 186953596 - C INS MASP1 ENST00000296280 human ensembl 74_37 -1 known frame_shift_ins c.2064_2063 p.P689fs 0.859:1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors MASP1 HGNC ENSG00000127241 61 0 0 59 11 15.7143 MLH1 0 genome.wustl.edu 37 3 37050312 37050331 + Frame_Shift_Del DEL ACCTTTTTTACAACATAGCC ACCTTTTTTACAACATAGCC - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 ACCTTTTTTACAACATAGCC ACCTTTTTTACAACATAGCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 37050312 37050331 ACCTTTTTTACAACATAGCC - DEL MLH1 ENST00000231790 human ensembl 74_37 +1 known frame_shift_del c.461_480 p.L155fs 1.000:0.996:1.000:0.999:0.560:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.842:0.746:0.988:1.000 superfamily_HATPase_ATP-bd,tigrfam_DNA_mismatch_repair_N pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_DNA_mismatch_repair_N - no_errors MLH1 HGNC ENSG00000076242 101 0 0 33 8 19.5122 ANO10 0 genome.wustl.edu 37 3 43647213 43647213 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 43647213 43647213 T - DEL ANO10 ENST00000292246 human ensembl 74_37 -1 known frame_shift_del c.132 p.D45fs 1.000 NULL pfam_Anoctamin - no_errors ANO10 HGNC ENSG00000160746 73 0 0 83 8 8.79121 ZDHHC3 0 genome.wustl.edu 37 3 44968293 44968294 + Frame_Shift_Ins INS - - T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 44968293 44968294 - T INS ZDHHC3 ENST00000296127 human ensembl 74_37 -1 known frame_shift_ins c.872_871 p.T291fs 1.000:1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC3 HGNC ENSG00000163812 55 0 0 52 17 24.6377 DOCK3 0 genome.wustl.edu 37 3 51417604 51417604 + Frame_Shift_Del DEL C C - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 51417604 51417604 C - DEL DOCK3 ENST00000266037 human ensembl 74_37 +1 known frame_shift_del c.5549 p.P1852fs 0.115 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 66 0 0 59 16 21.3333 SRGAP3 0 genome.wustl.edu 37 3 9034599 9034600 + Frame_Shift_Ins INS - - C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 9034599 9034600 - C INS SRGAP3 ENST00000383836 human ensembl 74_37 -1 known frame_shift_ins c.2549_2548 p.V850fs 1.000:1.000 NULL pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP3 HGNC ENSG00000196220 96 0 0 71 26 26.8041 PROS1 0 genome.wustl.edu 37 3 93605261 93605261 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 93605261 93605261 A - DEL PROS1 ENST00000394236 human ensembl 74_37 -1 known frame_shift_del c.1242 p.F414fs 0.995 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors PROS1 HGNC ENSG00000184500 341 0 0 289 21 6.77419 TTLL3 0 genome.wustl.edu 37 3 9862377 9862377 + Frame_Shift_Del DEL C C - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 9862377 9862377 C - DEL TTLL3 ENST00000426895 human ensembl 74_37 +1 known frame_shift_del c.1106 p.E371fs 0.125 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL3 HGNC ENSG00000214021 111 0 0 81 31 27.6786 IL17RC 0 genome.wustl.edu 37 3 9974363 9974365 + In_Frame_Del DEL CTT CTT - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 3 9974363 9974365 CTT - DEL IL17RC ENST00000295981 human ensembl 74_37 +1 known in_frame_del c.1672_1674 p.L559in_frame_del 0.539:0.498:0.007 NULL pfam_SEFIR - no_errors IL17RC HGNC ENSG00000163702 110 0 0 87 25 22.3214 ENPEP 0 genome.wustl.edu 37 4 111412241 111412242 + Frame_Shift_Ins INS - - C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 4 111412241 111412242 - C INS ENPEP ENST00000265162 human ensembl 74_37 +1 known frame_shift_ins c.839_840 p.M282fs 0.998:0.512 pfam_Peptidase_M1_N,prints_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000138792 137 0 0 119 42 26.087 FHDC1 0 genome.wustl.edu 37 4 153864507 153864507 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 4 153864507 153864507 T - DEL FHDC1 ENST00000260008 human ensembl 74_37 +1 known frame_shift_del c.298 p.W102fs 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,smart_FH2_Formin - no_errors FHDC1 HGNC ENSG00000137460 285 0 0 222 76 25.5034 CC2D2A 0 genome.wustl.edu 37 4 15601172 15601172 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 4 15601172 15601172 A - DEL CC2D2A ENST00000413206 human ensembl 74_37 +1 known frame_shift_del c.4517 p.I1508fs 1.000 NULL superfamily_C2_dom,smart_C2_dom - no_errors CC2D2A HGNC ENSG00000048342 18 0 0 15 8 34.7826 HTT 0 genome.wustl.edu 37 4 3227435 3227436 + Frame_Shift_Ins INS - - G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 4 3227435 3227436 - G INS HTT ENST00000355072 human ensembl 74_37 +1 known frame_shift_ins c.7813_7814 p.E2606fs 1.000:1.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 47 0 0 43 14 24.5614 ZBTB49 0 genome.wustl.edu 37 4 4303754 4303754 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 4 4303754 4303754 T - DEL ZBTB49 ENST00000337872 human ensembl 74_37 +1 known frame_shift_del c.191 p.H66fs 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like 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 ZBTB49 HGNC ENSG00000168826 95 0 0 41 14 25.4545 TERT 0 genome.wustl.edu 37 5 1294898 1294898 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 1294898 1294898 G - DEL TERT ENST00000310581 human ensembl 74_37 -1 known frame_shift_del c.207 p.S70fs 0.002 NULL pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT - no_errors TERT HGNC ENSG00000164362 12 0 0 13 3 18.75 DNAH5 0 genome.wustl.edu 37 5 13714533 13714533 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 13714533 13714533 G - DEL DNAH5 ENST00000265104 human ensembl 74_37 -1 known frame_shift_del c.13106 p.P4369fs 0.315 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 157 0 0 129 26 16.7742 RBM27 0 genome.wustl.edu 37 5 145647320 145647320 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 145647320 145647320 A - DEL RBM27 ENST00000265271 human ensembl 74_37 +1 known frame_shift_del c.2440 p.K816fs 1.000 NULL pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 64 0 0 52 15 22.3881 FBXO38 0 genome.wustl.edu 37 5 147806940 147806940 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 147806940 147806940 A - DEL FBXO38 ENST00000340253 human ensembl 74_37 +1 known frame_shift_del c.2083 p.N697fs 1.000 NULL superfamily_F-box_dom - no_errors FBXO38 HGNC ENSG00000145868 45 0 0 50 14 21.875 CDH9 0 genome.wustl.edu 37 5 26890634 26890634 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 26890634 26890634 A - DEL CDH9 ENST00000231021 human ensembl 74_37 -1 known frame_shift_del c.1293 p.F431fs 0.984 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 111 0 0 76 21 21.6495 DHX29 0 genome.wustl.edu 37 5 54572100 54572100 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 54572100 54572100 T - DEL DHX29 ENST00000251636 human ensembl 74_37 -1 known frame_shift_del c.2421 p.K807fs 1.000 superfamily_P-loop_NTPase pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX29 HGNC ENSG00000067248 113 0 0 62 22 26.1905 IL31RA 0 genome.wustl.edu 37 5 55168250 55168251 + Frame_Shift_Del DEL AT AT - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 55168250 55168251 AT - DEL IL31RA ENST00000447346 human ensembl 74_37 +1 known frame_shift_del c.425_426 p.M143fs 0.241:0.001 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL31RA HGNC ENSG00000164509 92 0 0 63 24 27.5862 ACTBL2 0 genome.wustl.edu 37 5 56778450 56778450 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 56778450 56778450 G - DEL ACTBL2 ENST00000423391 human ensembl 74_37 -1 known frame_shift_del c.85 p.R29fs 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTBL2 HGNC ENSG00000169067 66 0 0 84 8 8.69565 MAP1B 0 genome.wustl.edu 37 5 71492990 71492991 + Frame_Shift_Ins INS - - C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 71492990 71492991 - C INS MAP1B ENST00000296755 human ensembl 74_37 +1 known frame_shift_ins c.3808_3809 p.L1272fs 1.000:1.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 102 0 0 87 12 12.1212 CMYA5 0 genome.wustl.edu 37 5 79025081 79025081 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 79025081 79025081 A - DEL CMYA5 ENST00000446378 human ensembl 74_37 +1 known frame_shift_del c.493 p.G167fs 0.001 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 32 0 0 46 14 23.3333 HAPLN1 0 genome.wustl.edu 37 5 82948434 82948434 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 82948434 82948434 T - DEL HAPLN1 ENST00000274341 human ensembl 74_37 -1 known frame_shift_del c.310 p.T104fs 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link - no_errors HAPLN1 HGNC ENSG00000145681 196 0 0 127 45 26.1628 POU5F2 0 genome.wustl.edu 37 5 93076712 93076713 + Frame_Shift_Ins INS - - T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 5 93076712 93076713 - T INS POU5F2 ENST00000510627 human ensembl 74_37 -1 known frame_shift_ins c.558_557 p.W187fs 1.000:1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU5F2 HGNC ENSG00000248483 87 0 0 85 8 8.60215 SOBP 0 genome.wustl.edu 37 6 107955431 107955431 + Frame_Shift_Del DEL C C - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 107955431 107955431 C - DEL SOBP ENST00000317357 human ensembl 74_37 +1 known frame_shift_del c.1383 p.P463fs 1.000 NULL NULL - no_errors SOBP HGNC ENSG00000112320 21 0 0 23 7 23.3333 KIAA1919 0 genome.wustl.edu 37 6 111587361 111587361 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 111587361 111587361 T - DEL KIAA1919 ENST00000368847 human ensembl 74_37 +1 known frame_shift_del c.596 p.C202fs 0.469 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors KIAA1919 HGNC ENSG00000173214 69 0 0 57 14 19.7183 WISP3 0 genome.wustl.edu 37 6 112389434 112389434 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 112389434 112389434 A - DEL WISP3 ENST00000361714 human ensembl 74_37 +1 known frame_shift_del c.670 p.K226fs 1.000 superfamily_Thrombospondin_1_rpt,pirsf_IGFBP_CNN,pfscan_Thrombospondin_1_rpt pfam_IGFBP-like,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt - no_errors WISP3 HGNC ENSG00000112761 30 0 0 31 11 26.1905 HEY2 0 genome.wustl.edu 37 6 126080811 126080813 + In_Frame_Del DEL GCA GCA - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 GCA GCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 126080811 126080813 GCA - DEL HEY2 ENST00000368364 human ensembl 74_37 +1 known in_frame_del c.877_879 p.A296in_frame_del 0.970:0.954:0.252 prints_Antifreeze_1 pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom,prints_Antifreeze_1 - no_errors HEY2 HGNC ENSG00000135547 172 0 0 174 47 21.267 PTPRK 0 genome.wustl.edu 37 6 128294219 128294219 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 128294219 128294219 A - DEL PTPRK ENST00000368227 human ensembl 74_37 -1 known frame_shift_del c.4268 p.F1423fs 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 239 0 0 176 52 22.807 IPCEF1 0 genome.wustl.edu 37 6 154481013 154481013 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 154481013 154481013 G - DEL IPCEF1 ENST00000367220 human ensembl 74_37 -1 known frame_shift_del c.1267 p.Q423fs 0.002 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors IPCEF1 HGNC ENSG00000074706 67 0 0 51 14 21.5385 JARID2 0 genome.wustl.edu 37 6 15452325 15452325 + Frame_Shift_Del DEL C C - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 15452325 15452325 C - DEL JARID2 ENST00000341776 human ensembl 74_37 +1 known frame_shift_del c.412 p.P139fs 1.000 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 125 0 0 47 19 28.7879 SLC22A1 0 genome.wustl.edu 37 6 160557265 160557266 + Frame_Shift_Ins INS - - C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 160557265 160557266 - C INS SLC22A1 ENST00000366963 human ensembl 74_37 +1 known frame_shift_ins c.853_854 p.R287fs 0.999:0.695 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A1 HGNC ENSG00000175003 88 0 0 70 25 26.3158 TRIM27 0 genome.wustl.edu 37 6 28872041 28872043 + In_Frame_Del DEL AGA AGA - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 28872041 28872043 AGA - DEL TRIM27 ENST00000377199 human ensembl 74_37 -1 known in_frame_del c.1348_1346 p.F449in_frame_del 1.000:1.000:1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM27 HGNC ENSG00000204713 183 0 0 85 41 32.5397 HLA-A 0 genome.wustl.edu 37 6 29911091 29911092 + Frame_Shift_Ins INS - - G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 29911091 29911092 - G INS HLA-A ENST00000376806 human ensembl 74_37 +1 known frame_shift_ins c.390_391 p.R131fs 0.009:0.004 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-A HGNC ENSG00000206503 53 0 0 27 17 38.6364 MDC1 0 genome.wustl.edu 37 6 30675439 30675439 + Frame_Shift_Del DEL C C - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 30675439 30675439 C - DEL MDC1 ENST00000376406 human ensembl 74_37 -1 known frame_shift_del c.2917 p.A973fs 0.001 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 91 0 0 44 26 37.1429 BRPF3 0 genome.wustl.edu 37 6 36181729 36181729 + Frame_Shift_Del DEL C C - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 36181729 36181729 C - DEL BRPF3 ENST00000357641 human ensembl 74_37 +1 known frame_shift_del c.2555 p.P854fs 0.990 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF3 HGNC ENSG00000096070 120 0 0 100 10 9.09091 ETV7 0 genome.wustl.edu 37 6 36336715 36336716 + Frame_Shift_Ins INS - - C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 36336715 36336716 - C INS ETV7 ENST00000340181 human ensembl 74_37 -1 known frame_shift_ins c.798_797 p.N267fs 0.995:1.000 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV7 HGNC ENSG00000010030 239 0 0 204 40 16.3934 TREML2 0 genome.wustl.edu 37 6 41168713 41168714 + In_Frame_Ins INS - - CAG TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 41168713 41168714 - CAG INS TREML2 ENST00000483722 human ensembl 74_37 -1 known in_frame_ins c.34_33 p.11in_frame_insL 1.000:0.997 NULL pfam_Ig_V-set,pfscan_Ig-like_dom - no_errors TREML2 HGNC ENSG00000112195 39 0 0 44 9 16.9811 TINAG 0 genome.wustl.edu 37 6 54254616 54254617 + Frame_Shift_Ins INS - - G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 54254616 54254617 - G INS TINAG ENST00000259782 human ensembl 74_37 +1 known frame_shift_ins c.1324_1325 p.E444fs 1.000:1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom - no_errors TINAG HGNC ENSG00000137251 159 0 0 109 41 27.3333 TTK 0 genome.wustl.edu 37 6 80720630 80720630 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 80720630 80720630 A - DEL TTK ENST00000369798 human ensembl 74_37 +1 known frame_shift_del c.569 p.K192fs 0.007 NULL 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 TTK HGNC ENSG00000112742 144 0 0 141 30 17.5439 TTK 0 genome.wustl.edu 37 6 80750419 80750422 + Frame_Shift_Del DEL AAGT AAGT - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 AAGT AAGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 80750419 80750422 AAGT - DEL TTK ENST00000369798 human ensembl 74_37 +1 known frame_shift_del c.2489_2490 p.K830fs 1.000:1.000 NULL 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 TTK HGNC ENSG00000112742 105 0 0 69 21 23.3333 NT5E 0 genome.wustl.edu 37 6 86200308 86200310 + In_Frame_Del DEL GAA GAA - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 86200308 86200310 GAA - DEL NT5E ENST00000257770 human ensembl 74_37 +1 known in_frame_del c.1293_1295 p.K433in_frame_del 1.000:1.000:1.000 pfam_5'-Nucleotdase_C,superfamily_5'-Nucleotdase_C pfam_5'-Nucleotdase_C,pfam_PEstase_dom,superfamily_5'-Nucleotdase_C,prints_5_nucleotidase/apyrase - no_errors NT5E HGNC ENSG00000135318 154 0 0 89 20 18.3486 BACH2 0 genome.wustl.edu 37 6 90661567 90661568 + Frame_Shift_Ins INS - - C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 6 90661567 90661568 - C INS BACH2 ENST00000257749 human ensembl 74_37 -1 known frame_shift_ins c.258_257 p.F87fs 1.000:1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH2 HGNC ENSG00000112182 82 0 0 53 21 28.3784 GIGYF1 0 genome.wustl.edu 37 7 100285170 100285170 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 100285170 100285170 G - DEL GIGYF1 ENST00000275732 human ensembl 74_37 -1 known frame_shift_del c.331 p.L111fs 0.025 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC ENSG00000146830 57 0 0 58 6 9.375 NAPEPLD 0 genome.wustl.edu 37 7 102760123 102760123 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 102760123 102760123 A - DEL NAPEPLD ENST00000455523 human ensembl 74_37 -1 known frame_shift_del c.1061 p.F354fs 1.000 NULL NULL - no_errors NAPEPLD HGNC ENSG00000161048 106 0 0 91 30 24.7934 C7orf50 0 genome.wustl.edu 37 7 1037311 1037311 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 1037311 1037311 G - DEL C7orf50 ENST00000357429 human ensembl 74_37 -1 known frame_shift_del c.535 p.L179fs 0.001 NULL pfam_DUF2373 - no_errors C7orf50 HGNC ENSG00000146540 42 0 0 39 10 20.4082 IMMP2L 0 genome.wustl.edu 37 7 111127377 111127377 + Frame_Shift_Del DEL C C - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 111127377 111127377 C - DEL IMMP2L ENST00000331762 human ensembl 74_37 -1 known frame_shift_del c.156 p.S53fs 0.884 pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,tigrfam_Pept_S26A_signal_pept_1 pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Pept_S26A_signal_pept_1,tigrfam_Pept_S26A_signal_pept_1 - no_errors IMMP2L HGNC ENSG00000184903 74 0 0 103 14 11.9658 ZNF862 0 genome.wustl.edu 37 7 149557773 149557773 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 149557773 149557773 G - DEL ZNF862 ENST00000223210 human ensembl 74_37 +1 known frame_shift_del c.1524 p.P510fs 0.793 smart_Znf_TTF pfam_Krueppel-associated_box,pfam_HATC_dom_C,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box - no_errors ZNF862 HGNC ENSG00000106479 125 0 0 129 25 16.2338 AOC1 0 genome.wustl.edu 37 7 150555030 150555030 + Frame_Shift_Del DEL C C - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 150555030 150555030 C - DEL AOC1 ENST00000416793 human ensembl 74_37 +1 known frame_shift_del c.1472 p.E493fs 0.998 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC1 HGNC ENSG00000002726 102 0 0 125 23 15.5405 SLC4A2 0 genome.wustl.edu 37 7 150771823 150771824 + Frame_Shift_Ins INS - - C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 150771823 150771824 - C INS SLC4A2 ENST00000413384 human ensembl 74_37 +1 known frame_shift_ins c.2942_2943 p.L983fs 1.000:1.000 pfam_HCO3_transpt_C,prints_Anion_exchange,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk - no_errors SLC4A2 HGNC ENSG00000164889 122 0 0 129 30 18.8679 EGFR 0 genome.wustl.edu 37 7 55221748 55221748 + Frame_Shift_Del DEL C C - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 55221748 55221748 C - DEL EGFR ENST00000275493 human ensembl 74_37 +1 known frame_shift_del c.792 p.P266fs 0.998 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EGFR HGNC ENSG00000146648 106 0 0 92 25 21.3675 GTF2I 0 genome.wustl.edu 37 7 74131266 74131268 + In_Frame_Del DEL AGA AGA - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 74131266 74131268 AGA - DEL GTF2I ENST00000324896 human ensembl 74_37 +1 known in_frame_del c.876_878 p.E293in_frame_del 0.999:1.000:1.000 pirsf_TF_II-I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2I HGNC ENSG00000077809 52 0 0 51 10 16.3934 STEAP2 0 genome.wustl.edu 37 7 89856465 89856465 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 89856465 89856465 T - DEL STEAP2 ENST00000287908 human ensembl 74_37 +1 known frame_shift_del c.673 p.F227fs 0.987 NULL pfam_Fe3_Rdtase_TM_dom - no_errors STEAP2 HGNC ENSG00000157214 66 0 0 82 16 16.3265 ZKSCAN5 0 genome.wustl.edu 37 7 99129417 99129418 + Frame_Shift_Ins INS - - A TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 7 99129417 99129418 - A INS ZKSCAN5 ENST00000326775 human ensembl 74_37 +1 known frame_shift_ins c.2065_2066 p.N691fs 0.016:0.005 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN5 HGNC ENSG00000196652 92 0 0 130 11 7.80142 RNF19A 0 genome.wustl.edu 37 8 101300216 101300216 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 101300216 101300216 T - DEL RNF19A ENST00000341084 human ensembl 74_37 -1 known frame_shift_del c.187 p.R63fs 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19A HGNC ENSG00000034677 79 0 0 73 27 27 UBR5 0 genome.wustl.edu 37 8 103289349 103289349 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 103289349 103289349 T - DEL UBR5 ENST00000520539 human ensembl 74_37 -1 known frame_shift_del c.6360 p.E2121fs 0.987 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 159 0 0 101 39 27.8571 ANGPT1 0 genome.wustl.edu 37 8 108348381 108348381 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 108348381 108348381 T - DEL ANGPT1 ENST00000517746 human ensembl 74_37 -1 known frame_shift_del c.572 p.N191fs 1.000 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT1 HGNC ENSG00000154188 47 0 0 28 15 34.8837 MAL2 0 genome.wustl.edu 37 8 120252426 120252427 + Frame_Shift_Ins INS - - T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 120252426 120252427 - T INS MAL2 ENST00000276681 human ensembl 74_37 +1 known frame_shift_ins c.325_326 p.F110fs 0.957:0.962 pfam_Marvel,prints_MAL pfam_Marvel,prints_MAL - no_errors MAL2 HGNC ENSG00000147676 118 0 0 94 23 19.6581 ARHGEF10 0 genome.wustl.edu 37 8 1851547 1851548 + Frame_Shift_Del DEL AG AG - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 1851547 1851548 AG - DEL ARHGEF10 ENST00000398564 human ensembl 74_37 +1 known frame_shift_del c.1826_1827 p.D611fs 1.000:0.988 superfamily_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 104 0 0 62 34 35.4167 GPR124 0 genome.wustl.edu 37 8 37691604 37691605 + Frame_Shift_Ins INS - - G TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 37691604 37691605 - G INS GPR124 ENST00000412232 human ensembl 74_37 +1 known frame_shift_ins c.1566_1567 p.A524fs 0.369:0.996 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR124 HGNC ENSG00000020181 66 0 0 53 13 19.697 TOX 0 genome.wustl.edu 37 8 59750825 59750826 + Frame_Shift_Ins INS - - T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 59750825 59750826 - T INS TOX ENST00000361421 human ensembl 74_37 -1 known frame_shift_ins c.739_738 p.P246fs 1.000:1.000 superfamily_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX HGNC ENSG00000198846 215 0 0 185 48 20.6009 SULF1 0 genome.wustl.edu 37 8 70488249 70488249 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 8 70488249 70488249 G - DEL SULF1 ENST00000260128 human ensembl 74_37 +1 known frame_shift_del c.217 p.A75fs 0.999 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 49 0 0 30 11 26.8293 ZFP37 0 genome.wustl.edu 37 9 115806416 115806416 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 9 115806416 115806416 T - DEL ZFP37 ENST00000553380 human ensembl 74_37 -1 known frame_shift_del c.527 p.N176fs 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 ZFP37 HGNC ENSG00000136866 122 0 0 103 22 17.6 C5 0 genome.wustl.edu 37 9 123753470 123753470 + Frame_Shift_Del DEL T T - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 9 123753470 123753470 T - DEL C5 ENST00000223642 human ensembl 74_37 -1 known frame_shift_del c.2940 p.G981fs 1.000 NULL pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn_comp_syst_dom - no_errors C5 HGNC ENSG00000106804 110 0 0 60 28 31.8182 NOXA1 0 genome.wustl.edu 37 9 140328769 140328769 + Frame_Shift_Del DEL C C - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 9 140328769 140328769 C - DEL NOXA1 ENST00000341349 human ensembl 74_37 +1 known frame_shift_del c.1409 p.G472fs 0.082 superfamily_SH3_domain pfam_OPR_PB1,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_TPR_repeat,smart_OPR_PB1,smart_SH3_domain,pfscan_SH3_domain,pfscan_TPR-contain_dom - no_errors NOXA1 HGNC ENSG00000188747 317 0 0 239 22 8.42912 PSIP1 0 genome.wustl.edu 37 9 15465555 15465556 + Frame_Shift_Ins INS - - TC TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 9 15465555 15465556 - TC INS PSIP1 ENST00000380733 human ensembl 74_37 -1 known frame_shift_ins c.1556_1555 p.T519fs 1.000:1.000 NULL pfam_LEDGF,pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom,prints_Treacle-like_TCS - no_errors PSIP1 HGNC ENSG00000164985 197 0 0 145 30 17.1429 ATP8B5P 0 genome.wustl.edu 37 9 35450159 35450159 + RNA DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 9 35450159 35450159 A - DEL ATP8B5P ENST00000430846 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors ATP8B5P HGNC ENSG00000179766 88 0 0 49 18 26.8657 IPPK 0 genome.wustl.edu 37 9 95418757 95418758 + Frame_Shift_Ins INS - - C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 9 95418757 95418758 - C INS IPPK ENST00000287996 human ensembl 74_37 -1 known frame_shift_ins c.206_205 p.E69fs 1.000:1.000 pfam_Ins_P5_2-kin pfam_Ins_P5_2-kin - no_errors IPPK HGNC ENSG00000127080 122 0 0 73 7 8.75 PHF2 0 genome.wustl.edu 37 9 96422612 96422612 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d 9 96422612 96422612 A - DEL PHF2 ENST00000359246 human ensembl 74_37 +1 known frame_shift_del c.1468 p.K492fs 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 18 0 0 10 9 47.3684 MSL3 0 genome.wustl.edu 37 X 11790306 11790307 + Frame_Shift_Ins INS - - C TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d X 11790306 11790307 - C INS MSL3 ENST00000312196 human ensembl 74_37 +1 known frame_shift_ins c.1313_1314 p.G441fs 1.000:0.970 pfam_MRG_dom pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors MSL3 HGNC ENSG00000005302 143 0 0 68 68 50 PNMA3 0 genome.wustl.edu 37 X 152225667 152225667 + Frame_Shift_Del DEL G G - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d X 152225667 152225667 G - DEL PNMA3 ENST00000370264 human ensembl 74_37 +1 known frame_shift_del c.255 p.89fs 0.011 NULL superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors PNMA3 HGNC ENSG00000183837 78 0 0 27 30 52.6316 ASB11 0 genome.wustl.edu 37 X 15333660 15333660 + Frame_Shift_Del DEL A A - TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d X 15333660 15333660 A - DEL ASB11 ENST00000480796 human ensembl 74_37 -1 known frame_shift_del c.68 p.F23fs 1.000 NULL pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB11 HGNC ENSG00000165192 76 0 0 41 43 51.1905 FAM46D 0 genome.wustl.edu 37 X 79698294 79698295 + Frame_Shift_Ins INS - - T TCGA-F1-6874-01A-11D-1882-08 TCGA-F1-6874-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ec0d479-4948-4ce0-b9d0-9b808cbfcae9 bfd4cdc1-5298-4940-82cd-0994eca8b99d X 79698294 79698295 - T INS FAM46D ENST00000308293 human ensembl 74_37 +1 known frame_shift_ins c.256_257 p.G88fs 1.000:1.000 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46D HGNC ENSG00000174016 64 0 0 38 28 42.4242