#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ANKRD26P1	124149	genome.wustl.edu	37	16	46597935	46597935	+	IGR	SNP	G	G	A	rs550973732		TCGA-BH-A0DO-01B-11D-A12B-09	TCGA-BH-A0DO-11A-22D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14649437-79a6-40bd-87b1-a278bfb2dcda	d5eab3e3-4a3c-4820-807d-a837c2d054f1	g.chr16:46597935G>A								RNU6-845P (7832 upstream) : SHCBP1 (16530 downstream)																							GCATTGTACCGCCTGTCAGTG	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		19445	0.001		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0																															16.37:g.46597935G>A				RNA	SNP	-	NULL		37	NULL		16	.	.	.	.	.	.	.	.	.	.	G	5.120	0.207702	0.09704	.	.	ENSG00000255675	ENST00000543951	.	.	.	2.96	0.917	0.19380	.	.	.	.	.	T	0.44180	0.1281	.	.	.	0.28643	N	0.907066	.	.	.	.	.	.	T	0.52616	-0.8552	4	0.66056	D	0.02	.	4.3925	0.11348	0.1353:0.2323:0.6324:0.0	.	.	.	.	V	123	.	ENSP00000441655:A123V	A	-	2	0	ANKRD26P1	45155436	1.000000	0.71417	0.234000	0.24042	0.000000	0.00434	7.084000	0.76866	0.267000	0.21916	-1.509000	0.00949	GCG	ANKRD26P1	-	-	ENSG00000261239	0	0.413					ANKRD26P1	HGNC			43	0.00	0	G			46597935	46597935	-1	no_errors	ENST00000566201	ensembl	human	known	69_37n	rna	36	14.29	6	SNP	0.816	A
CACNA1D	776	genome.wustl.edu	37	3	53779689	53779689	+	Silent	SNP	C	C	T			TCGA-BH-A0DO-01B-11D-A12B-09	TCGA-BH-A0DO-11A-22D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14649437-79a6-40bd-87b1-a278bfb2dcda	d5eab3e3-4a3c-4820-807d-a837c2d054f1	g.chr3:53779689C>T	ENST00000350061.5	+	24	3556	c.3045C>T	c.(3043-3045)atC>atT	p.I1015I	CACNA1D_ENST00000422281.2_Silent_p.I1015I|CACNA1D_ENST00000288139.4_Silent_p.I1035I	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1015					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCGGACCATCGGCAACATCA	0.542																																						dbGAP											0													161.0	131.0	141.0					3																	53779689		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.3045C>T	3.37:g.53779689C>T			B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu	p.I1035	ENST00000350061.5	37	c.3105	CCDS46848.1	3																																																																																			CACNA1D	-	pfam_Ion_trans_dom	ENSG00000157388		0.542	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1D	HGNC	protein_coding	OTTHUMT00000350557.1	297	0.00	0	C	NM_000720		53779689	53779689	+1	no_errors	ENST00000288139	ensembl	human	known	69_37n	silent	261	20.91	69	SNP	0.890	T
CSMD1	64478	genome.wustl.edu	37	8	4494943	4494943	+	Missense_Mutation	SNP	G	G	A	rs529955824	byFrequency	TCGA-BH-A0DO-01B-11D-A12B-09	TCGA-BH-A0DO-11A-22D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14649437-79a6-40bd-87b1-a278bfb2dcda	d5eab3e3-4a3c-4820-807d-a837c2d054f1	g.chr8:4494943G>A	ENST00000520002.1	-	2	778	c.223C>T	c.(223-225)Cat>Tat	p.H75Y	CSMD1_ENST00000602723.1_Missense_Mutation_p.H75Y|CSMD1_ENST00000542608.1_Missense_Mutation_p.H75Y|CSMD1_ENST00000539096.1_Missense_Mutation_p.H75Y|CSMD1_ENST00000602557.1_Missense_Mutation_p.H75Y|CSMD1_ENST00000537824.1_Missense_Mutation_p.H75Y|CSMD1_ENST00000400186.3_Missense_Mutation_p.H75Y			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	75	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCAAAGGTATGGAAGGACAAC	0.428													G|||	2	0.000399361	0.0	0.0	5008	,	,		14342	0.002		0.0	False		,,,				2504	0.0					dbGAP											0													131.0	131.0	131.0					8																	4494943		1928	4158	6086	-	-	-	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.223C>T	8.37:g.4494943G>A	ENSP00000430733:p.His75Tyr		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.H75Y	ENST00000520002.1	37	c.223		8	.	.	.	.	.	.	.	.	.	.	G	6.494	0.459282	0.12342	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24	5.12	5.12	0.69794	.	.	.	.	.	T	0.15392	0.0371	L	0.29908	0.895	0.23204	N	0.998129	B	0.31100	0.308	B	0.29785	0.107	T	0.14476	-1.0471	9	0.35671	T	0.21	.	16.0542	0.80782	0.0:0.0:1.0:0.0	.	75	E5RIG2	.	Y	75	ENSP00000383047:H75Y;ENSP00000430733:H75Y;ENSP00000441462:H75Y;ENSP00000446243:H75Y;ENSP00000441675:H75Y	ENSP00000383047:H75Y	H	-	1	0	CSMD1	4482351	1.000000	0.71417	0.214000	0.23707	0.918000	0.54935	5.226000	0.65299	2.401000	0.81631	0.585000	0.79938	CAT	CSMD1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000183117		0.428	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	166	0.60	1	G	NM_033225		4494943	4494943	-1	no_errors	ENST00000520002	ensembl	human	known	69_37n	missense	129	20.86	34	SNP	0.932	A
FMO3	2328	genome.wustl.edu	37	1	171077313	171077313	+	Missense_Mutation	SNP	G	G	T	rs116425430		TCGA-BH-A0DO-01B-11D-A12B-09	TCGA-BH-A0DO-11A-22D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14649437-79a6-40bd-87b1-a278bfb2dcda	d5eab3e3-4a3c-4820-807d-a837c2d054f1	g.chr1:171077313G>T	ENST00000367755.4	+	5	689	c.578G>T	c.(577-579)gGg>gTg	p.G193V	FMO3_ENST00000542847.1_Missense_Mutation_p.G173V|FMO3_ENST00000538429.1_Missense_Mutation_p.G130V|FMO3_ENST00000392085.2_Missense_Mutation_p.G193V	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	193					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	GTTGGCCTGGGGAATTCGGGC	0.502																																						dbGAP											0													121.0	123.0	122.0					1																	171077313		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.578G>T	1.37:g.171077313G>T	ENSP00000356729:p.Gly193Val		B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1,prints_Flavin_mOase_2	p.G193V	ENST00000367755.4	37	c.578	CCDS1292.1	1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819086	0.90873	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.88647	0.6493	H	0.99058	4.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	D	0.93446	0.6798	10	0.87932	D	0	-19.286	18.0577	0.89368	0.0:0.0:1.0:0.0	.	130;173;193	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	V	193;193;173;130	ENSP00000356729:G193V;ENSP00000375935:G193V;ENSP00000444073:G173V;ENSP00000439500:G130V	ENSP00000356729:G193V	G	+	2	0	FMO3	169343937	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.864000	0.99589	2.322000	0.78497	0.563000	0.77884	GGG	FMO3	-	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase	ENSG00000007933		0.502	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO3	HGNC	protein_coding	OTTHUMT00000086219.1	361	0.00	0	G	NM_006894		171077313	171077313	+1	no_errors	ENST00000367755	ensembl	human	known	69_37n	missense	433	14.73	75	SNP	1.000	T
HIVEP2	3097	genome.wustl.edu	37	6	143074830	143074830	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A0DO-01B-11D-A12B-09	TCGA-BH-A0DO-11A-22D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14649437-79a6-40bd-87b1-a278bfb2dcda	d5eab3e3-4a3c-4820-807d-a837c2d054f1	g.chr6:143074830delG	ENST00000367604.1	-	9	7394	c.6755delC	c.(6754-6756)acafs	p.T2252fs	HIVEP2_ENST00000012134.2_Frame_Shift_Del_p.T2252fs|RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000367603.2_Frame_Shift_Del_p.T2252fs			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2252					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CAGGGGCAATGTGGGTGAAGG	0.567																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	dbGAP											0													70.0	76.0	74.0					6																	143074830		1947	4133	6080	-	-	-	SO:0001589	frameshift_variant	0			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.6755delC	6.37:g.143074830delG	ENSP00000356576:p.Thr2252fs		Q02646|Q5THT5|Q9NS05	Frame_Shift_Del	DEL	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T2252fs	ENST00000367604.1	37	c.6755	CCDS43510.1	6																																																																																			HIVEP2	-	NULL	ENSG00000010818		0.567	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1	206	0.00	0	G			143074830	143074830	-1	no_errors	ENST00000012134	ensembl	human	known	69_37n	frame_shift_del	174	15.31	32	DEL	0.878	-
IGHG1	3500	genome.wustl.edu	37	14	106208558	106208558	+	RNA	SNP	T	T	C			TCGA-BH-A0DO-01B-11D-A12B-09	TCGA-BH-A0DO-11A-22D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14649437-79a6-40bd-87b1-a278bfb2dcda	d5eab3e3-4a3c-4820-807d-a837c2d054f1	g.chr14:106208558T>C	ENST00000390548.2	-	0	341							P01857	IGHG1_HUMAN	immunoglobulin heavy constant gamma 1 (G1m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										GGAGTTCAGGTGCTGAGGAAG	0.637																																						dbGAP											0													60.0	60.0	60.0					14																	106208558		2012	4163	6175	-	-	-			0			J00228		14q32.33	2012-10-02			ENSG00000211896	ENSG00000211896		"""Immunoglobulins / IGH locus"""	5525	other	immunoglobulin gene		147100					Standard	NG_001019		Approved		uc001yse.3	P01857	OTTHUMG00000152495		14.37:g.106208558T>C				Silent	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like	p.A114	ENST00000390548.2	37	c.342		14																																																																																			IGHG1	-	NULL	ENSG00000211896		0.637	IGHG1-002	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	IG_C_gene	IGHG1	HGNC	IG_C_gene	OTTHUMT00000326504.1	234	0.00	0	T	NG_001019		106208558	106208558	-1	no_start_codon	ENST00000390548	ensembl	human	known	69_37n	silent	222	16.17	43	SNP	0.000	C
MAPK8IP3	23162	genome.wustl.edu	37	16	1793389	1793389	+	Missense_Mutation	SNP	G	G	C	rs201393775		TCGA-BH-A0DO-01B-11D-A12B-09	TCGA-BH-A0DO-11A-22D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14649437-79a6-40bd-87b1-a278bfb2dcda	d5eab3e3-4a3c-4820-807d-a837c2d054f1	g.chr16:1793389G>C	ENST00000250894.4	+	5	813	c.656G>C	c.(655-657)cGt>cCt	p.R219P	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R219P	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	219					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GGCACGGTACGTGCACAGATC	0.647																																						dbGAP											0													45.0	50.0	49.0					16																	1793389		2053	4177	6230	-	-	-	SO:0001583	missense	0			AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.656G>C	16.37:g.1793389G>C	ENSP00000250894:p.Arg219Pro		A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.R219P	ENST00000250894.4	37	c.656	CCDS10442.2	16	.	.	.	.	.	.	.	.	.	.	G	11.45	1.641647	0.29157	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.31247	1.5;1.5	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.47414	0.1444	L	0.44542	1.39	0.80722	D	1	B;B;D;D	0.89917	0.18;0.34;1.0;0.999	B;B;D;D	0.68943	0.052;0.055;0.958;0.961	T	0.24261	-1.0165	10	0.30854	T	0.27	-9.5229	18.2866	0.90115	0.0:0.0:1.0:0.0	.	220;219;219;219	B7ZMF3;E9PFH7;Q9UPT6;Q9UPT6-2	.;.;JIP3_HUMAN;.	P	219	ENSP00000250894:R219P;ENSP00000348290:R219P	ENSP00000250894:R219P	R	+	2	0	MAPK8IP3	1733390	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.663000	0.98605	2.408000	0.81797	0.643000	0.83706	CGT	MAPK8IP3	-	NULL	ENSG00000138834		0.647	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK8IP3	HGNC	protein_coding	OTTHUMT00000250508.2	46	0.00	0	G	NM_001040439		1793389	1793389	+1	no_errors	ENST00000250894	ensembl	human	known	69_37n	missense	51	10.53	6	SNP	1.000	C
MMP12	4321	genome.wustl.edu	37	11	102743804	102743804	+	RNA	DEL	T	T	-			TCGA-BH-A0DO-01B-11D-A12B-09	TCGA-BH-A0DO-11A-22D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14649437-79a6-40bd-87b1-a278bfb2dcda	d5eab3e3-4a3c-4820-807d-a837c2d054f1	g.chr11:102743804delT	ENST00000532855.1	-	0	237							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	TCACTGGAAGTTTGTTTATCT	0.358																																						dbGAP											0													33.0	34.0	34.0					11																	102743804		1808	4071	5879	-	-	-			0			L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102743804delT			B2R9X8|B7ZLF6|Q2M1L9	RNA	DEL	-	NULL	ENST00000532855.1	37	NULL		11																																																																																			MMP12	-	-	ENSG00000110347		0.358	MMP12-001	KNOWN	basic	processed_transcript	MMP12	HGNC	processed_transcript	OTTHUMT00000386646.1	89	0.00	0	T	NM_002426		102743804	102743804	-1	no_errors	ENST00000326227	ensembl	human	known	69_37n	rna	89	15.60	17	DEL	0.000	-
MX1	4599	genome.wustl.edu	37	21	42823096	42823096	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0DO-01B-11D-A12B-09	TCGA-BH-A0DO-11A-22D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14649437-79a6-40bd-87b1-a278bfb2dcda	d5eab3e3-4a3c-4820-807d-a837c2d054f1	g.chr21:42823096A>G	ENST00000398600.2	+	17	2460	c.1435A>G	c.(1435-1437)Atg>Gtg	p.M479V	MX1_ENST00000398598.3_Missense_Mutation_p.M479V|MX1_ENST00000455164.2_Missense_Mutation_p.M479V|MX1_ENST00000288383.6_Missense_Mutation_p.M456V	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	479	Middle domain.|Stalk.				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				TTGATTAGATATGGTCCGGCT	0.328																																						dbGAP											0													169.0	189.0	182.0					21																	42823096		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"""interferon-inducible protein p78"""	147150	"""myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)"", ""myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"""			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.1435A>G	21.37:g.42823096A>G	ENSP00000381601:p.Met479Val		B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,smart_Dynamin_GTPase,smart_GED,prints_Dynamin	p.M479V	ENST00000398600.2	37	c.1435	CCDS13673.1	21	.	.	.	.	.	.	.	.	.	.	A	3.531	-0.095798	0.07010	.	.	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000288383	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	4.62	2.09	0.27110	Dynamin central domain (1);	0.626027	0.17547	N	0.170328	T	0.65154	0.2664	M	0.64404	1.975	0.09310	N	0.999996	B	0.25235	0.121	B	0.32980	0.156	T	0.55296	-0.8163	10	0.33940	T	0.23	-24.6094	5.9296	0.19132	0.5194:0.324:0.0:0.1566	.	479	P20591	MX1_HUMAN	V	479;479;479;456	ENSP00000381601:M479V;ENSP00000381599:M479V;ENSP00000410523:M479V;ENSP00000288383:M456V	ENSP00000288383:M456V	M	+	1	0	MX1	41744966	0.995000	0.38212	0.628000	0.29241	0.146000	0.21551	0.482000	0.22276	0.296000	0.22592	0.533000	0.62120	ATG	MX1	-	pfam_Dynamin_central	ENSG00000157601		0.328	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MX1	HGNC	protein_coding	OTTHUMT00000195161.2	401	0.25	1	A			42823096	42823096	+1	no_errors	ENST00000398598	ensembl	human	known	69_37n	missense	340	19.05	80	SNP	0.271	G
PASK	23178	genome.wustl.edu	37	2	242051776	242051776	+	Missense_Mutation	SNP	C	C	T	rs145485934		TCGA-BH-A0DO-01B-11D-A12B-09	TCGA-BH-A0DO-11A-22D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14649437-79a6-40bd-87b1-a278bfb2dcda	d5eab3e3-4a3c-4820-807d-a837c2d054f1	g.chr2:242051776C>T	ENST00000405260.1	-	15	4110	c.3412G>A	c.(3412-3414)Gag>Aag	p.E1138K	PASK_ENST00000234040.4_Missense_Mutation_p.E1138K|PASK_ENST00000358649.4_Missense_Mutation_p.E1145K|PASK_ENST00000475666.1_5'UTR|PASK_ENST00000539818.1_Missense_Mutation_p.E922K|PASK_ENST00000544142.1_Missense_Mutation_p.E952K	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1138	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GTGAAGTCCTCGGCGATCACG	0.502																																						dbGAP											0													80.0	73.0	75.0					2																	242051776		2203	4300	6503	-	-	-	SO:0001583	missense	0			U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.3412G>A	2.37:g.242051776C>T	ENSP00000384016:p.Glu1138Lys		G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAS_fold,superfamily_Kinase-like_dom,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_cat_dom,tigrfam_PAS	p.E1145K	ENST00000405260.1	37	c.3433	CCDS2545.1	2	.	.	.	.	.	.	.	.	.	.	C	15.21	2.764460	0.49574	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000043	T	0.52125	0.1715	N	0.21373	0.66	0.32047	N	0.597515	P;P;P;P	0.48089	0.827;0.793;0.793;0.905	B;B;B;B	0.42522	0.39;0.361;0.27;0.39	T	0.65134	-0.6242	10	0.72032	D	0.01	.	15.6987	0.77521	0.0:0.8639:0.1361:0.0	.	1103;952;1145;1138	B7Z7R6;F5GYW7;Q96RG2-2;Q96RG2	.;.;.;PASK_HUMAN	K	1138;952;1138;1145;922	ENSP00000234040:E1138K;ENSP00000441374:E952K;ENSP00000384016:E1138K;ENSP00000351475:E1145K;ENSP00000443083:E922K	ENSP00000234040:E1138K	E	-	1	0	PASK	241700449	0.998000	0.40836	0.940000	0.37924	0.040000	0.13550	3.436000	0.52856	2.790000	0.95986	0.655000	0.94253	GAG	PASK	-	pfam_Prot_kinase_cat_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_cat_dom	ENSG00000115687		0.502	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PASK	HGNC	protein_coding	OTTHUMT00000323753.1	149	0.67	1	C	NM_015148		242051776	242051776	-1	no_errors	ENST00000358649	ensembl	human	known	69_37n	missense	102	22.14	29	SNP	0.956	T
PIK3CA	5290	genome.wustl.edu	37	3	178952074	178952074	+	Missense_Mutation	SNP	G	G	A	rs121913283		TCGA-BH-A0DO-01B-11D-A12B-09	TCGA-BH-A0DO-11A-22D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14649437-79a6-40bd-87b1-a278bfb2dcda	d5eab3e3-4a3c-4820-807d-a837c2d054f1	g.chr3:178952074G>A	ENST00000263967.3	+	21	3286	c.3129G>A	c.(3127-3129)atG>atA	p.M1043I	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		M -> I (in MCAP and CRC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.M1043I(66)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAACAAATGAATGATGCAC	0.368		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	66	Substitution - Missense(66)	large_intestine(36)|endometrium(11)|breast(6)|urinary_tract(4)|lung(4)|cervix(2)|thyroid(1)|central_nervous_system(1)|ovary(1)											98.0	88.0	91.0					3																	178952074		1907	4120	6027	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3129G>A	3.37:g.178952074G>A	ENSP00000263967:p.Met1043Ile		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_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	p.M1043I	ENST00000263967.3	37	c.3129	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	15.94	2.979751	0.53827	.	.	ENSG00000121879	ENST00000263967	T	0.75260	-0.92	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.42944	0.1225	N	0.00500	-1.43	0.80722	D	1	B	0.25955	0.138	B	0.19666	0.026	T	0.58662	-0.7597	10	0.02654	T	1	-20.5202	20.6721	0.99693	0.0:0.0:1.0:0.0	.	1043	P42336	PK3CA_HUMAN	I	1043	ENSP00000263967:M1043I	ENSP00000263967:M1043I	M	+	3	0	PIK3CA	180434768	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.367000	0.97148	2.894000	0.99253	0.591000	0.81541	ATG	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	183	0.00	0	G			178952074	178952074	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	198	17.77	43	SNP	1.000	A
PTCHD1	139411	genome.wustl.edu	37	X	23411483	23411483	+	Silent	SNP	C	C	T			TCGA-BH-A0DO-01B-11D-A12B-09	TCGA-BH-A0DO-11A-22D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14649437-79a6-40bd-87b1-a278bfb2dcda	d5eab3e3-4a3c-4820-807d-a837c2d054f1	g.chrX:23411483C>T	ENST00000379361.4	+	3	2708	c.1848C>T	c.(1846-1848)tcC>tcT	p.S616S		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	616					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TGAGGAATTCCTTTCTGAAAG	0.388																																						dbGAP											0													74.0	76.0	75.0					X																	23411483		2202	4297	6499	-	-	-	SO:0001819	synonymous_variant	0			AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.1848C>T	X.37:g.23411483C>T			B4DQH0|Q0IJ60|Q6P6B8	Silent	SNP	pfam_Patched,pfscan_SSD	p.S616	ENST00000379361.4	37	c.1848	CCDS35215.2	X																																																																																			PTCHD1	-	pfam_Patched	ENSG00000165186		0.388	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD1	HGNC	protein_coding	OTTHUMT00000056047.2	81	0.00	0	C	NM_173495		23411483	23411483	+1	no_errors	ENST00000379361	ensembl	human	known	69_37n	silent	67	14.10	11	SNP	1.000	T
S100P	6286	genome.wustl.edu	37	4	6698746	6698746	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A0DO-01B-11D-A12B-09	TCGA-BH-A0DO-11A-22D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14649437-79a6-40bd-87b1-a278bfb2dcda	d5eab3e3-4a3c-4820-807d-a837c2d054f1	g.chr4:6698746delT	ENST00000296370.3	+	2	1129	c.265delT	c.(265-267)tttfs	p.F89fs	S100P_ENST00000513778.1_3'UTR	NM_005980.2	NP_005971.1	P25815	S100P_HUMAN	S100 calcium binding protein P	89					endothelial cell migration (GO:0043542)|response to organic substance (GO:0010033)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|magnesium ion binding (GO:0000287)			prostate(1)	1		Myeloproliferative disorder(84;0.0255)		Colorectal(103;0.011)	Cromoglicic acid(DB01003)	TCACAAGTACTTTGAGAAGGC	0.498																																						dbGAP											0													200.0	184.0	190.0					4																	6698746		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X65614	CCDS3391.1	4p16	2013-01-10	2001-11-28		ENSG00000163993	ENSG00000163993		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10504	protein-coding gene	gene with protein product		600614	"""S100 calcium-binding protein P"""			8341667, 7759097	Standard	NM_005980		Approved		uc003gjl.3	P25815	OTTHUMG00000090491	ENST00000296370.3:c.265delT	4.37:g.6698746delT	ENSP00000296370:p.Phe89fs		Q5J7W2	Frame_Shift_Del	DEL	pfam_S100_Ca-bd_sub,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.F89fs	ENST00000296370.3	37	c.265	CCDS3391.1	4																																																																																			S100P	-	NULL	ENSG00000163993		0.498	S100P-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S100P	HGNC	protein_coding	OTTHUMT00000206979.1	141	0.00	0	T	NM_005980		6698746	6698746	+1	no_errors	ENST00000296370	ensembl	human	known	69_37n	frame_shift_del	148	16.76	30	DEL	0.056	-
SETX	23064	genome.wustl.edu	37	9	135153491	135153491	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A0DO-01B-11D-A12B-09	TCGA-BH-A0DO-11A-22D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14649437-79a6-40bd-87b1-a278bfb2dcda	d5eab3e3-4a3c-4820-807d-a837c2d054f1	g.chr9:135153491T>G	ENST00000224140.5	-	21	6990	c.6808A>C	c.(6808-6810)Aat>Cat	p.N2270H	SETX_ENST00000372169.2_Missense_Mutation_p.N2270H|SETX_ENST00000393220.1_Missense_Mutation_p.N2270H|SETX_ENST00000477049.1_5'Flank	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2270					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TAAACATAATTAGAAGGGAAG	0.378																																						dbGAP											0													116.0	112.0	114.0					9																	135153491		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.6808A>C	9.37:g.135153491T>G	ENSP00000224140:p.Asn2270His		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	NULL	p.N2270H	ENST00000224140.5	37	c.6808	CCDS6947.1	9	.	.	.	.	.	.	.	.	.	.	T	6.658	0.490019	0.12702	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04	5.77	4.62	0.57501	.	0.769767	0.12609	N	0.454062	D	0.84343	0.5451	N	0.16166	0.38	0.09310	N	1	B;B;B	0.30068	0.026;0.267;0.141	B;B;B	0.27380	0.061;0.079;0.048	T	0.73770	-0.3878	10	0.39692	T	0.17	.	10.9902	0.47545	0.0:0.0:0.2991:0.7009	.	2270;2270;2270	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	H	2270;512;2270;2270	ENSP00000224140:N2270H;ENSP00000409143:N512H;ENSP00000361242:N2270H;ENSP00000376913:N2270H	ENSP00000224140:N2270H	N	-	1	0	SETX	134143312	0.995000	0.38212	0.008000	0.14137	0.296000	0.27459	3.544000	0.53640	0.987000	0.38709	-0.321000	0.08615	AAT	SETX	-	NULL	ENSG00000107290		0.378	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3	227	0.00	0	T	NM_015046		135153491	135153491	-1	no_errors	ENST00000372169	ensembl	human	known	69_37n	missense	167	22.33	48	SNP	0.093	G
SIGLEC6	946	genome.wustl.edu	37	19	52033695	52033695	+	Silent	SNP	G	G	A			TCGA-BH-A0DO-01B-11D-A12B-09	TCGA-BH-A0DO-11A-22D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14649437-79a6-40bd-87b1-a278bfb2dcda	d5eab3e3-4a3c-4820-807d-a837c2d054f1	g.chr19:52033695G>A	ENST00000425629.3	-	4	904	c.750C>T	c.(748-750)agC>agT	p.S250S	SIGLEC6_ENST00000343300.4_Silent_p.S250S|SIGLEC6_ENST00000359982.4_Silent_p.S261S|SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000391797.3_Silent_p.S239S|SIGLEC6_ENST00000346477.3_Intron|SIGLEC6_ENST00000474054.1_5'Flank	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	250	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.S250S(1)		endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TCCTACCTGCGCTGTTTCCTT	0.567																																						dbGAP											1	Substitution - coding silent(1)	central_nervous_system(1)											58.0	59.0	59.0					19																	52033695		2000	4185	6185	-	-	-	SO:0001819	synonymous_variant	0			D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.750C>T	19.37:g.52033695G>A			A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Silent	SNP	pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S250	ENST00000425629.3	37	c.750	CCDS12834.3	19																																																																																			SIGLEC6	-	pfscan_Ig-like	ENSG00000105492		0.567	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC6	HGNC	protein_coding	OTTHUMT00000257670.3	121	0.00	0	G	NM_001245		52033695	52033695	-1	no_errors	ENST00000425629	ensembl	human	known	69_37n	silent	120	14.89	21	SNP	0.069	A
SLITRK1	114798	genome.wustl.edu	37	13	84454919	84454919	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DO-01B-11D-A12B-09	TCGA-BH-A0DO-11A-22D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14649437-79a6-40bd-87b1-a278bfb2dcda	d5eab3e3-4a3c-4820-807d-a837c2d054f1	g.chr13:84454919C>T	ENST00000377084.2	-	1	1609	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	242	LRRCT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTGGGGGCTTCGCAGACCACT	0.547																																						dbGAP											0													59.0	61.0	60.0					13																	84454919		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.724G>A	13.37:g.84454919C>T	ENSP00000366288:p.Glu242Lys		Q5U5I6|Q96SF9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.E242K	ENST00000377084.2	37	c.724	CCDS9464.1	13	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777294	0.49786	.	.	ENSG00000178235	ENST00000377084	T	0.47869	0.83	4.71	3.85	0.44370	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56572	0.1994	M	0.62266	1.93	0.58432	D	0.999994	D	0.61697	0.99	P	0.55260	0.772	T	0.56117	-0.8032	10	0.34782	T	0.22	-8.1753	13.0454	0.58922	0.1621:0.8378:0.0:0.0	.	242	Q96PX8	SLIK1_HUMAN	K	242	ENSP00000366288:E242K	ENSP00000366288:E242K	E	-	1	0	SLITRK1	83352920	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	7.651000	0.83577	1.198000	0.43158	0.555000	0.69702	GAA	SLITRK1	-	smart_Cys-rich_flank_reg_C	ENSG00000178235		0.547	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	149	0.00	0	C	NM_052910		84454919	84454919	-1	no_errors	ENST00000377084	ensembl	human	known	69_37n	missense	138	20.69	36	SNP	1.000	T
STAM2	10254	genome.wustl.edu	37	2	152988657	152988657	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DO-01B-11D-A12B-09	TCGA-BH-A0DO-11A-22D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14649437-79a6-40bd-87b1-a278bfb2dcda	d5eab3e3-4a3c-4820-807d-a837c2d054f1	g.chr2:152988657C>T	ENST00000263904.4	-	11	1345	c.996G>A	c.(994-996)atG>atA	p.M332I		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	332					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		TTTCATCTATCATTGGACCCA	0.308																																						dbGAP											0													79.0	82.0	81.0					2																	152988657		2202	4297	6499	-	-	-	SO:0001583	missense	0			AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.996G>A	2.37:g.152988657C>T	ENSP00000263904:p.Met332Ile		A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Missense_Mutation	SNP	pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_Ubiquitin-int_motif,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox	p.M332I	ENST00000263904.4	37	c.996	CCDS2196.1	2	.	.	.	.	.	.	.	.	.	.	C	14.30	2.492962	0.44352	.	.	ENSG00000115145	ENST00000263904	T	0.16324	2.35	5.02	2.24	0.28232	.	0.253221	0.49305	N	0.000141	T	0.18467	0.0443	L	0.52266	1.64	0.50813	D	0.999892	B;B	0.31383	0.321;0.006	B;B	0.38755	0.281;0.011	T	0.03306	-1.1050	10	0.34782	T	0.22	-1.8512	9.6635	0.39969	0.0:0.7736:0.0:0.2264	.	332;332	O75886-2;O75886	.;STAM2_HUMAN	I	332	ENSP00000263904:M332I	ENSP00000263904:M332I	M	-	3	0	STAM2	152696903	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.620000	0.46410	0.162000	0.19483	0.655000	0.94253	ATG	STAM2	-	NULL	ENSG00000115145		0.308	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAM2	HGNC	protein_coding	OTTHUMT00000254835.2	362	0.27	1	C	NM_005843		152988657	152988657	-1	no_errors	ENST00000263904	ensembl	human	known	69_37n	missense	307	18.52	70	SNP	1.000	T
TCHH	7062	genome.wustl.edu	37	1	152079924	152079924	+	Silent	SNP	G	G	A			TCGA-BH-A0DO-01B-11D-A12B-09	TCGA-BH-A0DO-11A-22D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14649437-79a6-40bd-87b1-a278bfb2dcda	d5eab3e3-4a3c-4820-807d-a837c2d054f1	g.chr1:152079924G>A	ENST00000368804.1	-	2	5768	c.5769C>T	c.(5767-5769)gtC>gtT	p.V1923V		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1923					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCGCACTGGGACACTGGCAA	0.547																																						dbGAP											0													130.0	132.0	131.0					1																	152079924		1968	4150	6118	-	-	-	SO:0001819	synonymous_variant	0			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.5769C>T	1.37:g.152079924G>A			Q5VUI3	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.V1923	ENST00000368804.1	37	c.5769	CCDS41396.1	1																																																																																			TCHH	-	NULL	ENSG00000159450		0.547	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	200	0.00	0	G	NM_007113		152079924	152079924	-1	no_errors	ENST00000368804	ensembl	human	known	69_37n	silent	231	16.49	46	SNP	0.000	A
TP53I13	90313	genome.wustl.edu	37	17	27899472	27899472	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A0DO-01B-11D-A12B-09	TCGA-BH-A0DO-11A-22D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14649437-79a6-40bd-87b1-a278bfb2dcda	d5eab3e3-4a3c-4820-807d-a837c2d054f1	g.chr17:27899472delG	ENST00000301057.7	+	6	941	c.826delG	c.(826-828)ggcfs	p.G276fs	RP11-68I3.2_ENST00000581474.1_RNA|RP11-68I3.4_ENST00000579050.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	276						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		CAACGGGCAAGGCAGCCCAGG	0.697																																						dbGAP											0													21.0	24.0	23.0					17																	27899472		1929	4068	5997	-	-	-	SO:0001589	frameshift_variant	0			AK075341	CCDS42289.1	17q11.2	2006-01-16				ENSG00000167543			25102	protein-coding gene	gene with protein product						14767535	Standard	NM_138349		Approved	DSCP1	uc002hee.3	Q8NBR0		ENST00000301057.7:c.826delG	17.37:g.27899472delG	ENSP00000301057:p.Gly276fs		Q7L5U3	Frame_Shift_Del	DEL	NULL	p.G276fs	ENST00000301057.7	37	c.826	CCDS42289.1	17																																																																																			TP53I13	-	NULL	ENSG00000167543		0.697	TP53I13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53I13	HGNC	protein_coding	OTTHUMT00000447804.2	11	0.00	0	G	NM_138349		27899472	27899472	+1	no_errors	ENST00000301057	ensembl	human	known	69_37n	frame_shift_del	4	33.33	2	DEL	0.748	-
TTN	7273	genome.wustl.edu	37	2	179449667	179449667	+	Silent	SNP	A	A	G			TCGA-BH-A0DO-01B-11D-A12B-09	TCGA-BH-A0DO-11A-22D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14649437-79a6-40bd-87b1-a278bfb2dcda	d5eab3e3-4a3c-4820-807d-a837c2d054f1	g.chr2:179449667A>G	ENST00000591111.1	-	260	60002	c.59778T>C	c.(59776-59778)ttT>ttC	p.F19926F	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.F12627F|TTN_ENST00000460472.2_Silent_p.F12502F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.F12694F|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.F18999F|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Silent_p.F21567F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19926	Fibronectin type-III 44. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGAAATGTCAAATGGAGGCT	0.448																																						dbGAP											0													53.0	56.0	55.0					2																	179449667		1905	4117	6022	-	-	-	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.59778T>C	2.37:g.179449667A>G			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_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_cat_dom,pfscan_Ig-like	p.F18999	ENST00000591111.1	37	c.56997		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.448	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	47	0.00	0	A	NM_133378		179449667	179449667	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	34	10.53	4	SNP	0.975	G
ZNF568	374900	genome.wustl.edu	37	19	37441513	37441513	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DO-01B-11D-A12B-09	TCGA-BH-A0DO-11A-22D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14649437-79a6-40bd-87b1-a278bfb2dcda	d5eab3e3-4a3c-4820-807d-a837c2d054f1	g.chr19:37441513G>A	ENST00000333987.7	+	7	1964	c.1458G>A	c.(1456-1458)atG>atA	p.M486I	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000415168.1_Missense_Mutation_p.M422I	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	486					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTATTCAGATGTCAAACCTCA	0.398																																						dbGAP											0													65.0	71.0	69.0					19																	37441513		2198	4299	6497	-	-	-	SO:0001583	missense	0			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.1458G>A	19.37:g.37441513G>A	ENSP00000334685:p.Met486Ile		B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	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	p.M486I	ENST00000333987.7	37	c.1458	CCDS42558.1	19	.	.	.	.	.	.	.	.	.	.	G	10.87	1.471613	0.26423	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	T;T	0.00986	5.47;5.47	3.96	1.58	0.23477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.185446	0.26470	N	0.024187	T	0.00552	0.0018	N	0.03224	-0.385	0.58432	D	0.999996	P	0.37985	0.613	B	0.38264	0.269	T	0.77824	-0.2444	10	0.21014	T	0.42	.	9.1614	0.37025	0.0:0.0:0.4752:0.5248	.	486	Q3ZCX4	ZN568_HUMAN	I	486;422	ENSP00000334685:M486I;ENSP00000394514:M422I	ENSP00000334685:M486I	M	+	3	0	ZNF568	42133353	0.000000	0.05858	0.998000	0.56505	0.987000	0.75469	-1.937000	0.01547	0.991000	0.38814	0.467000	0.42956	ATG	ZNF568	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198453		0.398	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF568	HGNC	protein_coding	OTTHUMT00000109572.2	166	0.00	0	G	NM_198539		37441513	37441513	+1	no_errors	ENST00000333987	ensembl	human	known	69_37n	missense	150	13.79	24	SNP	0.489	A
WDR87	83889	genome.wustl.edu	37	19	38380122	38380122	+	Silent	SNP	G	G	A			TCGA-BH-A0DO-01B-11D-A12B-09	TCGA-BH-A0DO-11A-22D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14649437-79a6-40bd-87b1-a278bfb2dcda	d5eab3e3-4a3c-4820-807d-a837c2d054f1	g.chr19:38380122G>A	ENST00000303868.5	-	6	4296	c.4072C>T	c.(4072-4074)Ctg>Ttg	p.L1358L	WDR87_ENST00000447313.2_Silent_p.L1397L	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	1358										NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						TCCAAGCCCAGCATGTCTCTT	0.403																																						dbGAP											0													168.0	126.0	138.0					19																	38380122		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.4072C>T	19.37:g.38380122G>A			Q9BWV9	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1397	ENST00000303868.5	37	c.4189	CCDS46063.1	19																																																																																			WDR87	-	superfamily_ARM-type_fold	ENSG00000171804		0.403	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR87	HGNC	protein_coding	OTTHUMT00000314628.2	397	0.25	1	G	XM_940478		38380122	38380122	-1	no_errors	ENST00000447313	ensembl	human	known	69_37n	silent	449	14.96	79	SNP	0.000	A
