#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
AHNAK2	113146	genome.wustl.edu	37	14	105412225	105412225	+	Missense_Mutation	SNP	T	T	G	rs201816632		TCGA-B6-A0WZ-01A-11D-A10G-09	TCGA-B6-A0WZ-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f6b8b1a9-370c-4023-b8bd-934e2a3d913a	a477963b-b0e1-4394-bfa3-cfc26c651ac8	g.chr14:105412225T>G	ENST00000333244.5	-	7	9682	c.9563A>C	c.(9562-9564)aAc>aCc	p.N3188T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3188						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GATGTCAGTGTTCTTCAGGTC	0.632																																						dbGAP											0													129.0	90.0	103.0					14																	105412225		1953	3882	5835	-	-	-	SO:0001583	missense	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9563A>C	14.37:g.105412225T>G	ENSP00000353114:p.Asn3188Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.N3188T	ENST00000333244.5	37	c.9563	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	N	0.005	-2.122627	0.00346	.	.	ENSG00000185567	ENST00000333244	T	0.02890	4.12	2.93	0.953	0.19590	.	.	.	.	.	T	0.00637	0.0021	N	0.00034	-2.565	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.47674	-0.9099	9	0.14252	T	0.57	.	8.5838	0.33646	0.0:0.3869:0.35:0.2631	.	3188	Q8IVF2	AHNK2_HUMAN	T	3188	ENSP00000353114:N3188T	ENSP00000353114:N3188T	N	-	2	0	AHNAK2	104483270	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-0.312000	0.08741	-1.838000	0.00587	AAC	AHNAK2	-	NULL	ENSG00000185567		0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	95	0.00	0	T	NM_138420		105412225	105412225	-1	no_errors	ENST00000333244	ensembl	human	known	69_37n	missense	104	11.86	14	SNP	0.000	G
APOBR	55911	genome.wustl.edu	37	16	28507295	28507295	+	Silent	SNP	G	G	A	rs9745758|rs368546180	byFrequency	TCGA-B6-A0WZ-01A-11D-A10G-09	TCGA-B6-A0WZ-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f6b8b1a9-370c-4023-b8bd-934e2a3d913a	a477963b-b0e1-4394-bfa3-cfc26c651ac8	g.chr16:28507295G>A	ENST00000431282.1	+	2	943	c.933G>A	c.(931-933)gaG>gaA	p.E311E	CLN3_ENST00000567160.1_5'Flank|APOBR_ENST00000328423.5_Silent_p.E311E|CLN3_ENST00000569430.1_5'Flank|APOBR_ENST00000564831.1_Silent_p.E311E			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	311	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						AGGAGGCTGAGACAGCCTCAG	0.667													G|||	17	0.00339457	0.0129	0.0	5008	,	,		18517	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													20.0	22.0	21.0					16																	28507295		1912	4098	6010	-	-	-	SO:0001819	synonymous_variant	0			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.933G>A	16.37:g.28507295G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Silent	SNP	NULL	p.E311	ENST00000431282.1	37	c.933		16																																																																																			APOBR	-	NULL	ENSG00000184730		0.667	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	APOBR	HGNC	protein_coding		26	0.00	0	G	NM_182804		28507295	28507295	+1	no_errors	ENST00000564831	ensembl	human	known	69_37n	silent	23	14.81	4	SNP	0.000	A
ARPC4	10093	genome.wustl.edu	37	3	9845592	9845592	+	Silent	SNP	G	G	A			TCGA-B6-A0WZ-01A-11D-A10G-09	TCGA-B6-A0WZ-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f6b8b1a9-370c-4023-b8bd-934e2a3d913a	a477963b-b0e1-4394-bfa3-cfc26c651ac8	g.chr3:9845592G>A	ENST00000397261.3	+	5	960	c.396G>A	c.(394-396)gtG>gtA	p.V132V	ARPC4_ENST00000287613.7_Silent_p.V42V|ARPC4-TTLL3_ENST00000397256.1_Intron|ARPC4_ENST00000498623.2_Silent_p.V42V|ARPC4_ENST00000433034.1_Silent_p.V151V	NM_005718.4	NP_005709.1	P59998	ARPC4_HUMAN	actin related protein 2/3 complex, subunit 4, 20kDa	132					actin filament polymerization (GO:0030041)|actin nucleation (GO:0045010)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|structural constituent of cytoskeleton (GO:0005200)	p.V132V(1)		breast(1)|lung(1)	2	Medulloblastoma(99;0.227)					ACAAGTTGGTGGACTTTGTGA	0.483																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											159.0	167.0	164.0					3																	9845592		2015	4190	6205	-	-	-	SO:0001819	synonymous_variant	0			AF019888	CCDS43047.1, CCDS46743.1, CCDS56238.1	3p25	2011-07-06	2002-08-29		ENSG00000241553	ENSG00000241553		"""Actin related protein 2/3 complex subunits"""	707	protein-coding gene	gene with protein product	"""Arp2/3 protein complex subunit p20"", ""actin related protein 2/3 complex, subunit 4 (20 kD)"""	604226	"""actin related protein 2/3 complex, subunit 4 (20 kD)"""			9230079, 9359840	Standard	NM_005718		Approved	p20-Arc, ARC20		P59998	OTTHUMG00000133768	ENST00000397261.3:c.396G>A	3.37:g.9845592G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JWM7|E7ETI0|F6TTL5|O15509|Q6P0W5|Q96QJ3	Missense_Mutation	SNP	pfam_ARPC4	p.G100R	ENST00000397261.3	37	c.298	CCDS43047.1	3	.	.	.	.	.	.	.	.	.	.	G	9.682	1.149481	0.21288	.	.	ENSG00000250151	ENST00000453882	.	.	.	5.95	1.02	0.19986	.	.	.	.	.	T	0.53190	0.1781	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38845	-0.9642	4	.	.	.	-2.8909	6.114	0.20116	0.3414:0.1178:0.5408:0.0	.	.	.	.	R	100	.	.	G	+	1	0	ARPC4-TTLL3	9820592	1.000000	0.71417	0.996000	0.52242	0.967000	0.64934	2.185000	0.42584	-0.089000	0.12484	-0.742000	0.03525	GGA	ARPC4-TTLL3	-	pfam_ARPC4	ENSG00000250151		0.483	ARPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPC4-TTLL3	HGNC	protein_coding	OTTHUMT00000258275.2	35	0.00	0	G	NM_001024959		9845592	9845592	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000453882	ensembl	human	putative	69_37n	missense	32	13.51	5	SNP	1.000	A
CBFB	865	genome.wustl.edu	37	16	67070634	67070634	+	Silent	SNP	C	C	A			TCGA-B6-A0WZ-01A-11D-A10G-09	TCGA-B6-A0WZ-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f6b8b1a9-370c-4023-b8bd-934e2a3d913a	a477963b-b0e1-4394-bfa3-cfc26c651ac8	g.chr16:67070634C>A	ENST00000290858.6	+	3	519	c.258C>A	c.(256-258)gtC>gtA	p.V86V	CBFB_ENST00000412916.2_Silent_p.V86V|CBFB_ENST00000561924.2_5'UTR	NM_001755.2|NM_022845.2	NP_001746.1|NP_074036.1	Q13951	PEBB_HUMAN	core-binding factor, beta subunit	86					cell maturation (GO:0048469)|definitive hemopoiesis (GO:0060216)|lymphocyte differentiation (GO:0030098)|myeloid cell differentiation (GO:0030099)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.V86V(1)		breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		GAGAGTATGTCGACTTAGAAA	0.413			T	MYH11	AML																																	dbGAP		Dom	yes		16	16q22	865	"""core-binding factor, beta subunit"""		L	1	Substitution - coding silent(1)	breast(1)											87.0	87.0	87.0					16																	67070634		2200	4300	6500	-	-	-	SO:0001819	synonymous_variant	0			BC018509	CCDS10827.1, CCDS45508.1	16q22.1	2008-02-05			ENSG00000067955	ENSG00000067955			1539	protein-coding gene	gene with protein product		121360				8351518, 7587111	Standard	NM_001755		Approved	PEBP2B	uc002erb.3	Q13951	OTTHUMG00000137520	ENST00000290858.6:c.258C>A	16.37:g.67070634C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K347|Q13124|Q9HCT2	Silent	SNP	pfam_CBF_beta,superfamily_CBF_beta	p.V86	ENST00000290858.6	37	c.258	CCDS10827.1	16																																																																																			CBFB	-	pfam_CBF_beta,superfamily_CBF_beta	ENSG00000067955		0.413	CBFB-001	KNOWN	basic|CCDS	protein_coding	CBFB	HGNC	protein_coding	OTTHUMT00000268843.2	65	0.00	0	C	NM_001755		67070634	67070634	+1	no_errors	ENST00000290858	ensembl	human	known	69_37n	silent	32	41.82	23	SNP	1.000	A
CHRD	8646	genome.wustl.edu	37	3	184100846	184100846	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0WZ-01A-11D-A10G-09	TCGA-B6-A0WZ-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f6b8b1a9-370c-4023-b8bd-934e2a3d913a	a477963b-b0e1-4394-bfa3-cfc26c651ac8	g.chr3:184100846G>A	ENST00000204604.1	+	10	1354	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_5'UTR|CHRD_ENST00000348986.3_Missense_Mutation_p.E370K|CHRD_ENST00000450923.1_Missense_Mutation_p.E370K	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	370	CHRD 2. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)	p.E370K(1)|p.E83K(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GACAGTCCAGGAGATGGACTG	0.627																																						dbGAP											2	Substitution - Missense(2)	breast(2)											22.0	22.0	22.0					3																	184100846		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1108G>A	3.37:g.184100846G>A	ENSP00000204604:p.Glu370Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C	p.E370K	ENST00000204604.1	37	c.1108	CCDS3266.1	3	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669954	0.88348	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000342610	T;T;T	0.44482	0.92;0.92;0.92	4.65	4.65	0.58169	CHRD (3);	0.000000	0.85682	D	0.000000	T	0.61451	0.2348	L	0.59436	1.845	0.80722	D	1	P;D	0.89917	0.952;1.0	D;D	0.97110	0.933;1.0	T	0.64909	-0.6296	10	0.66056	D	0.02	-25.1289	16.5167	0.84302	0.0:0.0:1.0:0.0	.	370;370	E7ESX1;Q9H2X0	.;CHRD_HUMAN	K	370;370;370;83	ENSP00000204604:E370K;ENSP00000408972:E370K;ENSP00000334036:E370K	ENSP00000204604:E370K	E	+	1	0	CHRD	185583540	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.002000	0.76304	2.306000	0.77630	0.462000	0.41574	GAG	CHRD	-	pfam_CHRD,smart_CHRD,pirsf_Chordin,pfscan_CHRD	ENSG00000090539		0.627	CHRD-001	KNOWN	basic|CCDS	protein_coding	CHRD	HGNC	protein_coding	OTTHUMT00000280432.1	17	0.00	0	G	NM_003741		184100846	184100846	+1	no_errors	ENST00000204604	ensembl	human	known	69_37n	missense	12	36.84	7	SNP	1.000	A
CPA5	93979	genome.wustl.edu	37	7	130003343	130003343	+	Silent	SNP	T	T	G			TCGA-B6-A0WZ-01A-11D-A10G-09	TCGA-B6-A0WZ-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f6b8b1a9-370c-4023-b8bd-934e2a3d913a	a477963b-b0e1-4394-bfa3-cfc26c651ac8	g.chr7:130003343T>G	ENST00000485477.1	+	9	1960	c.831T>G	c.(829-831)ggT>ggG	p.G277G	CPA5_ENST00000461828.1_Silent_p.G277G|CPA5_ENST00000393213.3_Silent_p.G277G|CPA5_ENST00000474905.1_Silent_p.G277G|CPA5_ENST00000431780.2_Silent_p.G277G|CPA5_ENST00000466363.2_Silent_p.G277G|CPA5_ENST00000355388.3_Silent_p.G277G			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	277						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.G277G(1)		NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					GGAAGTCGGGTTTTGGAGGTA	0.537																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											80.0	67.0	71.0					7																	130003343		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.831T>G	7.37:g.130003343T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Missense_Mutation	SNP	pfam_Peptidase_M14	p.V21G	ENST00000485477.1	37	c.62	CCDS5819.1	7	.	.	.	.	.	.	.	.	.	.	t	2.312	-0.357653	0.05138	.	.	ENSG00000158525	ENST00000479492	.	.	.	5.83	0.278	0.15673	.	.	.	.	.	T	0.43322	0.1242	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20371	-1.0277	4	.	.	.	.	2.9596	0.05888	0.114:0.3017:0.1121:0.4722	.	.	.	.	G	21	.	.	V	+	2	0	CPA5	129790579	0.025000	0.19082	0.970000	0.41538	0.102000	0.19082	-0.774000	0.04684	-0.137000	0.11455	-0.798000	0.03219	GTT	CPA5	-	NULL	ENSG00000158525		0.537	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA5	HGNC	protein_coding	OTTHUMT00000349712.1	60	0.00	0	T	NM_001127441		130003343	130003343	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000479492	ensembl	human	novel	69_37n	missense	50	24.24	16	SNP	0.842	G
CSH2	1443	genome.wustl.edu	37	17	61950968	61950968	+	Missense_Mutation	SNP	C	C	G	rs200108371		TCGA-B6-A0WZ-01A-11D-A10G-09	TCGA-B6-A0WZ-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f6b8b1a9-370c-4023-b8bd-934e2a3d913a	a477963b-b0e1-4394-bfa3-cfc26c651ac8	g.chr17:61950968C>G	ENST00000392886.2	-	1	158	c.7G>C	c.(7-9)Gca>Cca	p.A3P	CSH2_ENST00000336844.5_Missense_Mutation_p.A3P|CSH2_ENST00000560142.1_Missense_Mutation_p.A3P|CSH2_ENST00000345366.7_Missense_Mutation_p.A3P	NM_020991.3	NP_066271.1	P0DML3	CSH2_HUMAN	chorionic somatomammotropin hormone 2	3						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(1)|lung(3)	6						CGCTTACCTGCAGCCATTGCC	0.607																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			V00573	CCDS11646.1, CCDS42368.1, CCDS42369.1	17q22-q24	2012-10-02							2441	protein-coding gene	gene with protein product	"""placental lactogen"", ""chorionic somatomammotropin B"""	118820				593368, 6208192	Standard	NM_020991		Approved	hCS-B, CSB, CS-2	uc002jch.3	P0DML3		ENST00000392886.2:c.7G>C	17.37:g.61950968C>G	ENSP00000376623:p.Ala3Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.A3P	ENST00000392886.2	37	c.7	CCDS42369.1	17	.	.	.	.	.	.	.	.	.	.	g	4.452	0.083790	0.08583	.	.	ENSG00000213218	ENST00000345366;ENST00000336844;ENST00000392886	D;D;D	0.90732	-2.72;-2.17;-2.3	2.87	-0.685	0.11328	.	2.152470	0.02485	N	0.088871	T	0.81997	0.4941	.	.	.	0.21740	N	0.999562	B;B	0.10296	0.001;0.003	B;B	0.12156	0.001;0.007	T	0.65565	-0.6137	9	0.30854	T	0.27	.	1.8155	0.03099	0.2052:0.4684:0.2005:0.1258	.	3;3	A6NIT4;B1A4H9	.;.	P	3	ENSP00000308396:A3P;ENSP00000338816:A3P;ENSP00000376623:A3P	ENSP00000338816:A3P	A	-	1	0	CSH2	59304700	0.362000	0.24980	0.998000	0.56505	0.179000	0.23085	-1.337000	0.02657	-0.063000	0.13065	-0.369000	0.07265	GCA	CSH2	-	NULL	ENSG00000213218		0.607	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSH2	HGNC	protein_coding	OTTHUMT00000417657.1	59	0.00	0	C	NM_020991		61950968	61950968	-1	no_errors	ENST00000392886	ensembl	human	known	69_37n	missense	24	35.14	13	SNP	0.998	G
FCGBP	8857	genome.wustl.edu	37	19	40407987	40407987	+	Silent	SNP	G	G	A			TCGA-B6-A0WZ-01A-11D-A10G-09	TCGA-B6-A0WZ-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f6b8b1a9-370c-4023-b8bd-934e2a3d913a	a477963b-b0e1-4394-bfa3-cfc26c651ac8	g.chr19:40407987G>A	ENST00000221347.6	-	9	4741	c.4734C>T	c.(4732-4734)gcC>gcT	p.A1578A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1578	Cys-rich.|TIL 3.					extracellular vesicular exosome (GO:0070062)		p.A1578A(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGGGCACGCAGGCTTGGCCAT	0.607																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											82.0	75.0	77.0					19																	40407987		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.4734C>T	19.37:g.40407987G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out	p.A1578	ENST00000221347.6	37	c.4734	CCDS12546.1	19																																																																																			FCGBP	-	pfam_TIL_dom,superfamily_TIL_dom	ENSG00000090920		0.607	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	43	0.00	0	G	NM_003890		40407987	40407987	-1	no_errors	ENST00000221347	ensembl	human	known	69_37n	silent	20	33.33	10	SNP	0.119	A
GPR125	166647	genome.wustl.edu	37	4	22415369	22415369	+	Silent	SNP	G	G	C			TCGA-B6-A0WZ-01A-11D-A10G-09	TCGA-B6-A0WZ-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f6b8b1a9-370c-4023-b8bd-934e2a3d913a	a477963b-b0e1-4394-bfa3-cfc26c651ac8	g.chr4:22415369G>C	ENST00000334304.5	-	13	2147	c.1878C>G	c.(1876-1878)ctC>ctG	p.L626L	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	626					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.L626L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CAGTTGGTCTGAGTTCTCTTT	0.373																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											79.0	82.0	81.0					4																	22415369		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.1878C>G	4.37:g.22415369G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like	p.L626	ENST00000334304.5	37	c.1878	CCDS33964.1	4																																																																																			GPR125	-	NULL	ENSG00000152990		0.373	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR125	HGNC	protein_coding	OTTHUMT00000362960.3	104	0.00	0	G			22415369	22415369	-1	no_errors	ENST00000334304	ensembl	human	known	69_37n	silent	80	12.09	11	SNP	0.908	C
GPR98	84059	genome.wustl.edu	37	5	90001311	90001311	+	Missense_Mutation	SNP	T	T	A			TCGA-B6-A0WZ-01A-11D-A10G-09	TCGA-B6-A0WZ-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f6b8b1a9-370c-4023-b8bd-934e2a3d913a	a477963b-b0e1-4394-bfa3-cfc26c651ac8	g.chr5:90001311T>A	ENST00000405460.2	+	37	8577	c.8481T>A	c.(8479-8481)aaT>aaA	p.N2827K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2827	Calx-beta 20. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.N2827K(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAGTTTTAAATTTTGCTCTTT	0.408																																						dbGAP											1	Substitution - Missense(1)	breast(1)											170.0	164.0	166.0					5																	90001311		1898	4129	6027	-	-	-	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.8481T>A	5.37:g.90001311T>A	ENSP00000384582:p.Asn2827Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.N2827K	ENST00000405460.2	37	c.8481	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.7|21.7	4.183309|4.183309	0.78677|0.78677	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000509621|ENST00000405460;ENST00000296619	.|T	.|0.28255	.|1.62	6.05|6.05	-0.333|-0.333	0.12671|0.12671	.|Na-Ca exchanger/integrin-beta4 (1);	.|0.128940	.|0.64402	.|D	.|0.000001	T|T	0.47154|0.47154	0.1430|0.1430	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	.|D;D	.|0.64830	.|0.994;0.989	.|D;D	.|0.70935	.|0.964;0.971	T|T	0.38045|0.38045	-0.9679|-0.9679	5|10	.|0.62326	.|D	.|0.03	.|.	10.4006|10.4006	0.44227|0.44227	0.0:0.4122:0.0:0.5878|0.0:0.4122:0.0:0.5878	.|.	.|2827;2827	.|E7ETI5;Q8WXG9	.|.;GPR98_HUMAN	N|K	393|2827	.|ENSP00000384582:N2827K	.|ENSP00000296619:N2827K	I|N	+|+	2|3	0|2	GPR98|GPR98	90037067|90037067	0.993000|0.993000	0.37304|0.37304	0.992000|0.992000	0.48379|0.48379	0.995000|0.995000	0.86356|0.86356	0.260000|0.260000	0.18424|0.18424	-0.256000|-0.256000	0.09473|0.09473	0.528000|0.528000	0.53228|0.53228	ATT|AAT	GPR98	-	smart_Calx_beta	ENSG00000164199		0.408	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	169	0.00	0	T	NM_032119		90001311	90001311	+1	no_errors	ENST00000405460	ensembl	human	known	69_37n	missense	115	26.11	41	SNP	1.000	A
IQCB1	9657	genome.wustl.edu	37	3	121526220	121526220	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0WZ-01A-11D-A10G-09	TCGA-B6-A0WZ-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f6b8b1a9-370c-4023-b8bd-934e2a3d913a	a477963b-b0e1-4394-bfa3-cfc26c651ac8	g.chr3:121526220C>A	ENST00000310864.6	-	7	772	c.558G>T	c.(556-558)atG>atT	p.M186I	IQCB1_ENST00000349820.6_Missense_Mutation_p.M186I	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	186					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)	p.M186I(1)		NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TCTGTAGCATCATCATGACTG	0.303																																						dbGAP											1	Substitution - Missense(1)	breast(1)											137.0	138.0	138.0					3																	121526220		2203	4298	6501	-	-	-	SO:0001583	missense	0			D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"""nephrocystin-5"""	609237	"""IQ calmodulin-binding motif containing 1"""			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.558G>T	3.37:g.121526220C>A	ENSP00000311505:p.Met186Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.M186I	ENST00000310864.6	37	c.558	CCDS33837.1	3	.	.	.	.	.	.	.	.	.	.	C	9.113	1.007083	0.19199	.	.	ENSG00000173226	ENST00000310864;ENST00000349820;ENST00000460108;ENST00000498104	T;T	0.35605	1.38;1.3	5.44	3.07	0.35406	.	0.644470	0.17013	N	0.190401	T	0.17704	0.0425	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16600	-1.0397	10	0.66056	D	0.02	0.203	5.691	0.17829	0.7323:0.1796:0.0881:0.0	.	186;186	Q15051;Q15051-2	IQCB1_HUMAN;.	I	186;186;2;2	ENSP00000311505:M186I;ENSP00000323756:M186I	ENSP00000311505:M186I	M	-	3	0	IQCB1	123008910	0.657000	0.27393	0.071000	0.20095	0.452000	0.32318	1.041000	0.30291	0.509000	0.28195	-0.271000	0.10264	ATG	IQCB1	-	superfamily_ARM-type_fold	ENSG00000173226		0.303	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCB1	HGNC	protein_coding	OTTHUMT00000250573.1	196	0.00	0	C	NM_014642		121526220	121526220	-1	no_errors	ENST00000310864	ensembl	human	known	69_37n	missense	150	12.79	22	SNP	0.144	A
ITGA1	3672	genome.wustl.edu	37	5	52193332	52193332	+	Silent	SNP	G	G	A			TCGA-B6-A0WZ-01A-11D-A10G-09	TCGA-B6-A0WZ-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f6b8b1a9-370c-4023-b8bd-934e2a3d913a	a477963b-b0e1-4394-bfa3-cfc26c651ac8	g.chr5:52193332G>A	ENST00000282588.6	+	10	1595	c.1137G>A	c.(1135-1137)caG>caA	p.Q379Q		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	379					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)	p.Q379Q(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AAATGTCTCAGACTGGCTTCA	0.388																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											85.0	80.0	82.0					5																	52193332		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.1137G>A	5.37:g.52193332G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNU0	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.Q379	ENST00000282588.6	37	c.1137	CCDS3955.1	5																																																																																			ITGA1	-	NULL	ENSG00000213949		0.388	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA1	HGNC	protein_coding	OTTHUMT00000253855.3	79	0.00	0	G	NM_181501		52193332	52193332	+1	no_errors	ENST00000282588	ensembl	human	known	69_37n	silent	81	12.90	12	SNP	1.000	A
MAP2K4	6416	genome.wustl.edu	37	17	12011144	12011144	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0WZ-01A-11D-A10G-09	TCGA-B6-A0WZ-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f6b8b1a9-370c-4023-b8bd-934e2a3d913a	a477963b-b0e1-4394-bfa3-cfc26c651ac8	g.chr17:12011144C>T	ENST00000353533.5	+	5	614	c.551C>T	c.(550-552)tCg>tTg	p.S184L	MAP2K4_ENST00000581941.1_3'UTR|MAP2K4_ENST00000415385.3_Missense_Mutation_p.S195L	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	184	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.S184L(4)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		ATGTCTACCTCGTTTGATAAG	0.299			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	dbGAP		Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	15	Whole gene deletion(10)|Substitution - Missense(4)|Unknown(1)	breast(8)|ovary(4)|biliary_tract(1)|large_intestine(1)|pancreas(1)											152.0	162.0	159.0					17																	12011144		2203	4298	6501	-	-	-	SO:0001583	missense	0			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.551C>T	17.37:g.12011144C>T	ENSP00000262445:p.Ser184Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	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	p.S195L	ENST00000353533.5	37	c.584	CCDS11162.1	17	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165335	0.57476	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.26810	1.71;1.71	5.47	5.47	0.80525	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	0.85682	D	0.000000	T	0.39835	0.1093	N	0.21373	0.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.34329	-0.9833	10	0.87932	D	0	.	18.1096	0.89530	0.0:1.0:0.0:0.0	.	56;195;184	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	L	184;195;161;56	ENSP00000262445:S184L;ENSP00000410402:S195L	ENSP00000262445:S184L	S	+	2	0	MAP2K4	11951869	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.788000	0.85771	2.562000	0.86427	0.561000	0.74099	TCG	MAP2K4	-	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	ENSG00000065559		0.299	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP2K4	HGNC	protein_coding	OTTHUMT00000441226.1	308	0.32	1	C			12011144	12011144	+1	no_errors	ENST00000415385	ensembl	human	known	69_37n	missense	123	42.59	92	SNP	1.000	T
NEB	4703	genome.wustl.edu	37	2	152466574	152466574	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B6-A0WZ-01A-11D-A10G-09	TCGA-B6-A0WZ-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f6b8b1a9-370c-4023-b8bd-934e2a3d913a	a477963b-b0e1-4394-bfa3-cfc26c651ac8	g.chr2:152466574C>A	ENST00000172853.10	-	77	11497	c.11350G>T	c.(11350-11352)Gaa>Taa	p.E3784*	NEB_ENST00000409198.1_Nonsense_Mutation_p.E3784*|NEB_ENST00000397345.3_Nonsense_Mutation_p.E4027*|NEB_ENST00000603639.1_Nonsense_Mutation_p.E4027*|NEB_ENST00000604864.1_Nonsense_Mutation_p.E4027*|NEB_ENST00000427231.2_Nonsense_Mutation_p.E4027*			P20929	NEBU_HUMAN	nebulin	3784					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.E4027*(1)|p.E3784*(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGATCATCTTCAATGCTCTGG	0.403																																						dbGAP											2	Substitution - Nonsense(2)	breast(2)											147.0	136.0	140.0					2																	152466574		1913	4135	6048	-	-	-	SO:0001587	stop_gained	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11350G>T	2.37:g.152466574C>A	ENSP00000172853:p.Glu3784*	Somatic		WXS	Illumina GAIIx	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Nonsense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain	p.E4027*	ENST00000172853.10	37	c.12079		2	.	.	.	.	.	.	.	.	.	.	C	53	20.937757	0.99935	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	.	.	.	5.6	5.6	0.85130	.	0.128839	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	14.8089	0.69979	0.0:0.7377:0.2623:0.0	.	.	.	.	X	3784;4027;4027;3784	.	ENSP00000172853:E3784X	E	-	1	0	NEB	152174820	0.006000	0.16342	0.992000	0.48379	0.987000	0.75469	-0.006000	0.12833	2.798000	0.96311	0.650000	0.86243	GAA	NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.403	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		203	0.00	0	C	NM_004543		152466574	152466574	-1	no_errors	ENST00000397345	ensembl	human	known	69_37n	nonsense	212	13.01	32	SNP	0.990	A
TENM2	57451	genome.wustl.edu	37	5	167517656	167517656	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0WZ-01A-11D-A10G-09	TCGA-B6-A0WZ-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f6b8b1a9-370c-4023-b8bd-934e2a3d913a	a477963b-b0e1-4394-bfa3-cfc26c651ac8	g.chr5:167517656G>C	ENST00000518659.1	+	8	1632	c.1593G>C	c.(1591-1593)caG>caC	p.Q531H	TENM2_ENST00000403607.2_Missense_Mutation_p.Q364H|TENM2_ENST00000519204.1_Missense_Mutation_p.Q410H|TENM2_ENST00000520394.1_Missense_Mutation_p.Q299H|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000545108.1_Missense_Mutation_p.Q531H	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	531					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.Q410H(1)|p.Q364H(1)|p.Q531H(1)									GGAGCATACAGACCTTGGTTC	0.512																																						dbGAP											3	Substitution - Missense(3)	breast(3)											227.0	231.0	229.0					5																	167517656		2079	4211	6290	-	-	-	SO:0001583	missense	0			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1593G>C	5.37:g.167517656G>C	ENSP00000429430:p.Gln531His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULU2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl,superfamily_Cytokine_IL1-like,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.Q531H	ENST00000518659.1	37	c.1593		5	.	.	.	.	.	.	.	.	.	.	G	13.32	2.201145	0.38905	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	5.96	5.1	0.69264	.	0.188384	0.48767	D	0.000180	T	0.27559	0.0677	L	0.33137	0.985	0.42758	D	0.993794	B;D;B	0.59767	0.007;0.986;0.004	B;P;B	0.54100	0.005;0.742;0.007	T	0.01863	-1.1258	10	0.32370	T	0.25	.	15.1782	0.72931	0.0674:0.0:0.9326:0.0	.	531;299;410	Q9NT68;F8VNQ3;G3V106	TEN2_HUMAN;.;.	H	531;531;410;299;364	ENSP00000429430:Q531H;ENSP00000438635:Q531H;ENSP00000428964:Q410H;ENSP00000427874:Q299H;ENSP00000384905:Q364H	ENSP00000384905:Q364H	Q	+	3	2	ODZ2	167450234	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.042000	0.57347	1.531000	0.49152	0.655000	0.94253	CAG	ODZ2	-	NULL	ENSG00000145934		0.512	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	ODZ2	HGNC	protein_coding	OTTHUMT00000376096.1	117	0.00	0	G	NM_001122679		167517656	167517656	+1	no_errors	ENST00000518659	ensembl	human	known	69_37n	missense	79	12.22	11	SNP	1.000	C
PCDH9	5101	genome.wustl.edu	37	13	67799842	67799842	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0WZ-01A-11D-A10G-09	TCGA-B6-A0WZ-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f6b8b1a9-370c-4023-b8bd-934e2a3d913a	a477963b-b0e1-4394-bfa3-cfc26c651ac8	g.chr13:67799842C>G	ENST00000377865.2	-	1	2865	c.2731G>C	c.(2731-2733)Gag>Cag	p.E911Q	PCDH9_ENST00000456367.1_Missense_Mutation_p.E911Q|PCDH9_ENST00000377861.3_Missense_Mutation_p.E911Q|PCDH9_ENST00000328454.5_Missense_Mutation_p.E911Q|PCDH9_ENST00000544246.1_Missense_Mutation_p.E911Q			Q9HC56	PCDH9_HUMAN	protocadherin 9	911					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E911Q(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CTTTGCTCCTCCAGTTCAGCC	0.478																																						dbGAP											1	Substitution - Missense(1)	breast(1)											103.0	103.0	103.0					13																	67799842		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2731G>C	13.37:g.67799842C>G	ENSP00000367096:p.Glu911Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E911Q	ENST00000377865.2	37	c.2731	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354905	0.61293	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	5.73	5.73	0.89815	Protocadherin (1);	0.000000	0.85682	D	0.000000	T	0.55289	0.1911	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.83275	0.996;0.986;0.994;0.996	T	0.53136	-0.8481	10	0.62326	D	0.03	.	19.9002	0.96983	0.0:1.0:0.0:0.0	.	911;911;911;911	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	Q	911	ENSP00000442186:E911Q;ENSP00000367096:E911Q;ENSP00000401699:E911Q;ENSP00000332060:E911Q;ENSP00000367092:E911Q	ENSP00000332060:E911Q	E	-	1	0	PCDH9	66697843	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.487000	0.81328	2.709000	0.92574	0.655000	0.94253	GAG	PCDH9	-	pfam_Protocadherin	ENSG00000184226		0.478	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	55	0.00	0	C	NM_203487		67799842	67799842	-1	no_errors	ENST00000377865	ensembl	human	known	69_37n	missense	37	13.95	6	SNP	1.000	G
PDE3A	5139	genome.wustl.edu	37	12	20787975	20787975	+	Silent	SNP	G	G	A			TCGA-B6-A0WZ-01A-11D-A10G-09	TCGA-B6-A0WZ-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f6b8b1a9-370c-4023-b8bd-934e2a3d913a	a477963b-b0e1-4394-bfa3-cfc26c651ac8	g.chr12:20787975G>A	ENST00000359062.3	+	8	2026	c.1986G>A	c.(1984-1986)gaG>gaA	p.E662E	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	662					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	ATGCTCCTGAGACCATGATGT	0.443																																						dbGAP											0													114.0	96.0	102.0					12																	20787975		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1986G>A	12.37:g.20787975G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O60865|Q13348|Q17RD1	Silent	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.E662	ENST00000359062.3	37	c.1986	CCDS31754.1	12																																																																																			PDE3A	-	NULL	ENSG00000172572		0.443	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2	97	0.00	0	G			20787975	20787975	+1	no_errors	ENST00000359062	ensembl	human	known	69_37n	silent	75	10.71	9	SNP	0.527	A
PRAM1	84106	genome.wustl.edu	37	19	8564533	8564533	+	Silent	SNP	G	G	A	rs201098926		TCGA-B6-A0WZ-01A-11D-A10G-09	TCGA-B6-A0WZ-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f6b8b1a9-370c-4023-b8bd-934e2a3d913a	a477963b-b0e1-4394-bfa3-cfc26c651ac8	g.chr19:8564533G>A	ENST00000423345.4	-	2	679	c.159C>T	c.(157-159)agC>agT	p.S53S	PRAM1_ENST00000255612.3_Silent_p.S53S			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	53	Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)	p.S53S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						TGGGGTGCTCGCTTAGCTCAG	0.617																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											55.0	64.0	61.0					19																	8564533		1974	4155	6129	-	-	-	SO:0001819	synonymous_variant	0			BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.159C>T	19.37:g.8564533G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N6W7	Silent	SNP	superfamily_SH3_domain	p.S53	ENST00000423345.4	37	c.159	CCDS45954.2	19																																																																																			PRAM1	-	NULL	ENSG00000133246		0.617	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRAM1	HGNC	protein_coding	OTTHUMT00000397040.3	19	0.00	0	G	NM_032152		8564533	8564533	-1	no_errors	ENST00000423345	ensembl	human	known	69_37n	silent	19	32.14	9	SNP	0.000	A
PRDM16	63976	genome.wustl.edu	37	1	3313062	3313062	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A0WZ-01A-11D-A10G-09	TCGA-B6-A0WZ-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f6b8b1a9-370c-4023-b8bd-934e2a3d913a	a477963b-b0e1-4394-bfa3-cfc26c651ac8	g.chr1:3313062A>G	ENST00000270722.5	+	5	630	c.581A>G	c.(580-582)tAt>tGt	p.Y194C	PRDM16_ENST00000442529.2_Missense_Mutation_p.Y194C|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000511072.1_Missense_Mutation_p.Y195C|PRDM16_ENST00000514189.1_Missense_Mutation_p.Y195C|PRDM16_ENST00000441472.2_Missense_Mutation_p.Y194C|PRDM16_ENST00000378398.3_Missense_Mutation_p.Y195C|PRDM16_ENST00000378391.2_Missense_Mutation_p.Y194C			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	194	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.Y194C(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TAGATTTACTATAAAGTCATT	0.562			T	EVI1	"""MDS, AML"""																																	dbGAP		Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	1	Substitution - Missense(1)	breast(1)											59.0	69.0	66.0					1																	3313062		2075	4213	6288	-	-	-	SO:0001583	missense	0			AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.581A>G	1.37:g.3313062A>G	ENSP00000270722:p.Tyr194Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.Y194C	ENST00000270722.5	37	c.581	CCDS41236.2	1	.	.	.	.	.	.	.	.	.	.	A	15.06	2.721706	0.48728	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	D;D;T;T;T;D;T;T;T	0.86030	-2.06;-2.06;-0.95;-0.95;-0.95;-2.06;-0.95;2.6;2.49	4.88	4.88	0.63580	SET domain (2);	0.000000	0.45867	U	0.000328	D	0.92906	0.7743	M	0.87758	2.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.999;0.993	D	0.94066	0.7331	10	0.72032	D	0.01	.	14.4951	0.67680	1.0:0.0:0.0:0.0	.	194;194;194;194	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	C	195;195;194;194;194;195;194;10;10;3	ENSP00000426975:Y195C;ENSP00000367651:Y195C;ENSP00000407968:Y194C;ENSP00000405253:Y194C;ENSP00000367643:Y194C;ENSP00000421400:Y195C;ENSP00000270722:Y194C;ENSP00000422504:Y10C;ENSP00000425796:Y3C	ENSP00000270722:Y194C	Y	+	2	0	PRDM16	3302922	1.000000	0.71417	0.994000	0.49952	0.654000	0.38779	9.004000	0.93583	1.838000	0.53458	0.459000	0.35465	TAT	PRDM16	-	smart_SET_dom,pfscan_SET_dom	ENSG00000142611		0.562	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM16	HGNC	protein_coding	OTTHUMT00000001382.3	62	0.00	0	A	NM_022114		3313062	3313062	+1	no_errors	ENST00000270722	ensembl	human	known	69_37n	missense	34	15.00	6	SNP	1.000	G
QSOX1	5768	genome.wustl.edu	37	1	180147983	180147983	+	Silent	SNP	G	G	A			TCGA-B6-A0WZ-01A-11D-A10G-09	TCGA-B6-A0WZ-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f6b8b1a9-370c-4023-b8bd-934e2a3d913a	a477963b-b0e1-4394-bfa3-cfc26c651ac8	g.chr1:180147983G>A	ENST00000367602.3	+	5	644	c.570G>A	c.(568-570)ctG>ctA	p.L190L	QSOX1_ENST00000367600.5_Silent_p.L190L			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	190					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)	p.L190L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ACCTGGCTCTGATCTTTGAAA	0.507											OREG0014018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Substitution - coding silent(1)	breast(1)											135.0	139.0	138.0					1																	180147983		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"""quiescin Q6"""	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.570G>A	1.37:g.180147983G>A		Somatic	1959	WXS	Illumina GAIIx	Phase_IV	Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Silent	SNP	pfam_Evr1_Alr,pfam_Thioredoxin_domain,superfamily_Evr1_Alr,superfamily_Thioredoxin-like_fold	p.L190	ENST00000367602.3	37	c.570	CCDS1337.1	1																																																																																			QSOX1	-	NULL	ENSG00000116260		0.507	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSOX1	HGNC	protein_coding	OTTHUMT00000085289.1	99	0.00	0	G	NM_002826		180147983	180147983	+1	no_errors	ENST00000367602	ensembl	human	known	69_37n	silent	104	11.86	14	SNP	1.000	A
PTPN14	5784	genome.wustl.edu	37	1	214557335	214557335	+	Silent	SNP	G	G	A			TCGA-B6-A0WZ-01A-11D-A10G-09	TCGA-B6-A0WZ-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f6b8b1a9-370c-4023-b8bd-934e2a3d913a	a477963b-b0e1-4394-bfa3-cfc26c651ac8	g.chr1:214557335G>A	ENST00000366956.5	-	13	2057	c.1863C>T	c.(1861-1863)ctC>ctT	p.L621L	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	621					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)	p.L621L(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TCACCTCCTGGAGAGACTGAT	0.632																																					Colon(92;557 1424 24372 34121 40073)	dbGAP											1	Substitution - coding silent(1)	breast(1)											43.0	42.0	42.0					1																	214557335		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.1863C>T	1.37:g.214557335G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VSI0	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.L621	ENST00000366956.5	37	c.1863	CCDS1514.1	1																																																																																			PTPN14	-	pirsf_Tyr_Pase_non-rcpt_typ-14/21	ENSG00000152104		0.632	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN14	HGNC	protein_coding	OTTHUMT00000089918.2	14	0.00	0	G	NM_005401		214557335	214557335	-1	no_errors	ENST00000366956	ensembl	human	known	69_37n	silent	8	52.94	9	SNP	0.919	A
RASGRF1	5923	genome.wustl.edu	37	15	79296367	79296367	+	Silent	SNP	G	G	A			TCGA-B6-A0WZ-01A-11D-A10G-09	TCGA-B6-A0WZ-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f6b8b1a9-370c-4023-b8bd-934e2a3d913a	a477963b-b0e1-4394-bfa3-cfc26c651ac8	g.chr15:79296367G>A	ENST00000419573.3	-	16	2548	c.2274C>T	c.(2272-2274)tcC>tcT	p.S758S	RASGRF1_ENST00000394745.3_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.S742S|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	758	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S758S(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGATGTTCAGGGAGAGCTTCC	0.647																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											65.0	61.0	63.0					15																	79296367		2196	4293	6489	-	-	-	SO:0001819	synonymous_variant	0			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2274C>T	15.37:g.79296367G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S758	ENST00000419573.3	37	c.2274	CCDS10309.1	15																																																																																			RASGRF1	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N	ENSG00000058335		0.647	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	HGNC	protein_coding	OTTHUMT00000291371.3	15	0.00	0	G	NM_002891		79296367	79296367	-1	no_errors	ENST00000419573	ensembl	human	known	69_37n	silent	10	37.50	6	SNP	1.000	A
RIMBP3	85376	genome.wustl.edu	37	22	20456978	20456978	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0WZ-01A-11D-A10G-09	TCGA-B6-A0WZ-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f6b8b1a9-370c-4023-b8bd-934e2a3d913a	a477963b-b0e1-4394-bfa3-cfc26c651ac8	g.chr22:20456978C>T	ENST00000426804.1	-	1	4808	c.4324G>A	c.(4324-4326)Ggc>Agc	p.G1442S	SCARNA18_ENST00000516215.1_RNA|SCARNA17_ENST00000516762.1_RNA|RN7SKP131_ENST00000363006.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1442								p.G1442S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			TGTTGGGGGCCACCCCTGGGC	0.622																																						dbGAP											1	Substitution - Missense(1)	breast(1)											1.0	1.0	1.0					22																	20456978		23	92	115	-	-	-	SO:0001583	missense	0			AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.4324G>A	22.37:g.20456978C>T	ENSP00000391564:p.Gly1442Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,pfscan_SH3_domain	p.G1442S	ENST00000426804.1	37	c.4324	CCDS46665.1	22	.	.	.	.	.	.	.	.	.	.	C	3.960	-0.010504	0.07727	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.15834	2.39	3.58	-2.6	0.06190	Src homology-3 domain (1);	1.719510	0.02831	N	0.126779	T	0.08846	0.0219	N	0.17474	0.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30937	-0.9961	10	0.02654	T	1	-0.8971	7.4974	0.27498	0.0:0.41:0.0:0.59	.	1348	Q9UFD9	RIM3A_HUMAN	S	1348;1442	ENSP00000391564:G1442S	ENSP00000347318:G1348S	G	-	1	0	RIMBP3	18836978	0.000000	0.05858	0.000000	0.03702	0.109000	0.19521	-0.515000	0.06290	-0.258000	0.09446	0.423000	0.28283	GGC	RIMBP3	-	superfamily_SH3_domain	ENSG00000196622		0.622	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP3	HGNC	protein_coding	OTTHUMT00000318945.2	21	0.00	0	C	NM_015672		20456978	20456978	-1	no_errors	ENST00000426804	ensembl	human	known	69_37n	missense	4	33.33	2	SNP	0.000	T
RPL7	6129	genome.wustl.edu	37	8	74204479	74204479	+	Silent	SNP	G	G	A	rs144250753		TCGA-B6-A0WZ-01A-11D-A10G-09	TCGA-B6-A0WZ-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f6b8b1a9-370c-4023-b8bd-934e2a3d913a	a477963b-b0e1-4394-bfa3-cfc26c651ac8	g.chr8:74204479G>A	ENST00000352983.2	-	3	570	c.285C>T	c.(283-285)atC>atT	p.I95I	RPL7_ENST00000396467.1_Silent_p.I55I|RPL7_ENST00000396465.1_Silent_p.I55I|RPL7_ENST00000487500.1_5'Flank|RDH10_ENST00000240285.5_5'Flank|RPL7_ENST00000396466.1_Silent_p.I55I			P18124	RL7_HUMAN	ribosomal protein L7	95					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.I95I(1)		breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			CTTACCCTCTGATTCTGATGA	0.428													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17133	0.0		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - coding silent(1)	breast(1)											105.0	108.0	107.0					8																	74204479		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L16557	CCDS6212.1	8q13.3	2011-04-06			ENSG00000147604	ENSG00000147604		"""L ribosomal proteins"""	10363	protein-coding gene	gene with protein product		604166				8360149, 8441630	Standard	XM_006716463		Approved	humL7-1, L7	uc003xzg.3	P18124	OTTHUMG00000134312	ENST00000352983.2:c.285C>T	8.37:g.74204479G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K504|Q15289|Q3KQU0|Q5I0X1|Q6IBM9	Silent	SNP	pfam_Ribosomal_L30_N,pfam_Ribosomal_L30_ferredoxin-like,superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk	p.I95	ENST00000352983.2	37	c.285	CCDS6212.1	8																																																																																			RPL7	-	pfam_Ribosomal_L30_ferredoxin-like,superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk	ENSG00000147604		0.428	RPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL7	HGNC	protein_coding	OTTHUMT00000259287.1	162	0.61	1	G	NM_000971		74204479	74204479	-1	no_errors	ENST00000352983	ensembl	human	known	69_37n	silent	140	15.66	26	SNP	1.000	A
SHPRH	257218	genome.wustl.edu	37	6	146242419	146242419	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0WZ-01A-11D-A10G-09	TCGA-B6-A0WZ-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f6b8b1a9-370c-4023-b8bd-934e2a3d913a	a477963b-b0e1-4394-bfa3-cfc26c651ac8	g.chr6:146242419C>G	ENST00000367505.2	-	21	4156	c.3892G>C	c.(3892-3894)Gag>Cag	p.E1298Q	SHPRH_ENST00000367503.3_Missense_Mutation_p.E1302Q|SHPRH_ENST00000275233.7_Missense_Mutation_p.E1298Q|SHPRH_ENST00000438092.2_Missense_Mutation_p.E1302Q			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1298					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E1302Q(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ATAGATCGCTCTGTCTCACTT	0.428																																						dbGAP											1	Substitution - Missense(1)	breast(1)											130.0	118.0	122.0					6																	146242419		1892	4122	6014	-	-	-	SO:0001583	missense	0			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.3892G>C	6.37:g.146242419C>G	ENSP00000356475:p.Glu1298Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Histone_H1/H5,superfamily_Znf_FYVE_PHD,superfamily_WW_Rsp5_WWP,smart_Helicase_ATP-bd,smart_Histone_H1/H5,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C	p.E1302Q	ENST00000367505.2	37	c.3904	CCDS43513.2	6	.	.	.	.	.	.	.	.	.	.	C	34	5.311424	0.95655	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T	0.77620	-1.08;-1.11;-1.1;-1.08	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.85902	0.5805	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.996;0.998	D	0.84536	0.0636	10	0.49607	T	0.09	-25.0284	20.1099	0.97909	0.0:1.0:0.0:0.0	.	497;1298;1302	B3KX98;Q149N8;Q149N8-4	.;SHPRH_HUMAN;.	Q	1298;1302;1302;1298	ENSP00000356475:E1298Q;ENSP00000356473:E1302Q;ENSP00000412797:E1302Q;ENSP00000275233:E1298Q	ENSP00000275233:E1298Q	E	-	1	0	SHPRH	146284112	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.818000	0.86416	2.753000	0.94483	0.585000	0.79938	GAG	SHPRH	-	NULL	ENSG00000146414		0.428	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHPRH	HGNC	protein_coding	OTTHUMT00000042571.2	147	0.00	0	C	NM_173082		146242419	146242419	-1	no_errors	ENST00000367503	ensembl	human	known	69_37n	missense	110	11.90	15	SNP	1.000	G
SLC35G1	159371	genome.wustl.edu	37	10	95660752	95660752	+	Silent	SNP	G	G	A			TCGA-B6-A0WZ-01A-11D-A10G-09	TCGA-B6-A0WZ-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f6b8b1a9-370c-4023-b8bd-934e2a3d913a	a477963b-b0e1-4394-bfa3-cfc26c651ac8	g.chr10:95660752G>A	ENST00000427197.1	+	3	664	c.603G>A	c.(601-603)gtG>gtA	p.V201V	SLC35G1_ENST00000371408.3_Silent_p.V200V	NM_001134658.1|NM_153226.2	NP_001128130.1|NP_694958.1	Q2M3R5	S35G1_HUMAN	solute carrier family 35, member G1	201	EamA 1.				calcium ion export from cell (GO:1990034)|cytosolic calcium ion homeostasis (GO:0051480)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V200V(1)									TCCTTATCGTGAGACCACCAT	0.443																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											113.0	94.0	101.0					10																	95660752		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK091309	CCDS7432.1, CCDS44459.1	10q23.33	2013-05-22	2011-08-03	2011-08-03	ENSG00000176273	ENSG00000176273		"""Solute carriers"""	26607	protein-coding gene	gene with protein product			"""transmembrane protein 20"""	TMEM20		21569384	Standard	NM_153226		Approved	FLJ33990, C10orf60	uc001kjg.2	Q2M3R5	OTTHUMG00000018779	ENST00000427197.1:c.603G>A	10.37:g.95660752G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86YG5|Q8NBA5	Silent	SNP	pfam_DMT	p.V201	ENST00000427197.1	37	c.603	CCDS44459.1	10																																																																																			SLC35G1	-	pfam_DMT	ENSG00000176273		0.443	SLC35G1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC35G1	HGNC	protein_coding		114	0.00	0	G	NM_153226		95660752	95660752	+1	no_errors	ENST00000427197	ensembl	human	known	69_37n	silent	73	28.43	29	SNP	0.997	A
SMCP	4184	genome.wustl.edu	37	1	152857160	152857160	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0WZ-01A-11D-A10G-09	TCGA-B6-A0WZ-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f6b8b1a9-370c-4023-b8bd-934e2a3d913a	a477963b-b0e1-4394-bfa3-cfc26c651ac8	g.chr1:152857160G>A	ENST00000368765.3	+	2	412	c.262G>A	c.(262-264)Gag>Aag	p.E88K		NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich protein	88					penetration of zona pellucida (GO:0007341)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)		p.E88K(1)		breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CATGGAGTCTGAGCCCAACTC	0.542																																						dbGAP											1	Substitution - Missense(1)	breast(1)											130.0	120.0	123.0					1																	152857160		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC014593	CCDS1029.1	1q21.3	2009-03-19	2005-10-06	2005-10-06	ENSG00000163206	ENSG00000163206			6962	protein-coding gene	gene with protein product		601148	"""mitochondrial capsule selenoprotein"""	MCSP		8833144	Standard	NM_030663		Approved		uc001fat.3	P49901	OTTHUMG00000012452	ENST00000368765.3:c.262G>A	1.37:g.152857160G>A	ENSP00000357754:p.Glu88Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96A42	Missense_Mutation	SNP	NULL	p.E88K	ENST00000368765.3	37	c.262	CCDS1029.1	1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728529	0.30593	.	.	ENSG00000163206	ENST00000368765	.	.	.	4.08	2.18	0.27775	.	.	.	.	.	T	0.15782	0.0380	L	0.46157	1.445	0.09310	N	1	P	0.46512	0.879	B	0.43536	0.423	T	0.08513	-1.0718	8	0.87932	D	0	.	5.0039	0.14279	0.1074:0.0:0.6858:0.2067	.	88	P49901	MCSP_HUMAN	K	88	.	ENSP00000357754:E88K	E	+	1	0	SMCP	151123784	0.014000	0.17966	0.000000	0.03702	0.003000	0.03518	2.242000	0.43106	0.667000	0.31107	0.655000	0.94253	GAG	SMCP	-	NULL	ENSG00000163206		0.542	SMCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCP	HGNC	protein_coding	OTTHUMT00000034665.1	41	0.00	0	G	NM_030663		152857160	152857160	+1	no_errors	ENST00000368765	ensembl	human	known	69_37n	missense	27	18.18	6	SNP	0.000	A
SNX13	23161	genome.wustl.edu	37	7	17873801	17873801	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0WZ-01A-11D-A10G-09	TCGA-B6-A0WZ-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f6b8b1a9-370c-4023-b8bd-934e2a3d913a	a477963b-b0e1-4394-bfa3-cfc26c651ac8	g.chr7:17873801C>G	ENST00000409389.1	-	15	1643	c.1471G>C	c.(1471-1473)Gaa>Caa	p.E491Q	SNX13_ENST00000428135.3_Missense_Mutation_p.E491Q			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	491	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.E491Q(1)		breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					AGCATCAATTCATATACCTTG	0.348																																						dbGAP											1	Substitution - Missense(1)	breast(1)											51.0	48.0	49.0					7																	17873801		1853	4092	5945	-	-	-	SO:0001583	missense	0			AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.1471G>C	7.37:g.17873801C>G	ENSP00000386705:p.Glu491Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal	p.E491Q	ENST00000409389.1	37	c.1471		7	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933439	0.52866	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.02015	4.5;4.5	5.58	5.58	0.84498	.	0.195434	0.53938	D	0.000045	T	0.02649	0.0080	N	0.17082	0.46	0.80722	D	1	B;B;B	0.16166	0.005;0.016;0.012	B;B;B	0.23716	0.007;0.048;0.019	T	0.62025	-0.6941	10	0.32370	T	0.25	-11.3332	19.56	0.95368	0.0:1.0:0.0:0.0	.	288;491;491	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	Q	491;491;539	ENSP00000386705:E491Q;ENSP00000398789:E491Q	ENSP00000242044:E539Q	E	-	1	0	SNX13	17840326	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	7.456000	0.80751	2.622000	0.88805	0.637000	0.83480	GAA	SNX13	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	ENSG00000071189		0.348	SNX13-002	NOVEL	basic|exp_conf	protein_coding	SNX13	HGNC	protein_coding	OTTHUMT00000327608.1	55	0.00	0	C	NM_015132		17873801	17873801	-1	no_errors	ENST00000428135	ensembl	human	novel	69_37n	missense	67	11.84	9	SNP	1.000	G
SYK	6850	genome.wustl.edu	37	9	93629418	93629418	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0WZ-01A-11D-A10G-09	TCGA-B6-A0WZ-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f6b8b1a9-370c-4023-b8bd-934e2a3d913a	a477963b-b0e1-4394-bfa3-cfc26c651ac8	g.chr9:93629418G>T	ENST00000375754.4	+	7	1000	c.852G>T	c.(850-852)tgG>tgT	p.W284C	SYK_ENST00000375747.1_Intron|SYK_ENST00000375746.1_Missense_Mutation_p.W284C|SYK_ENST00000375751.4_Intron	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	284	Interdomain B.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.W284C(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TCTAGACTTGGTCAGCGGGTG	0.428			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""																																	dbGAP		Dom	yes		9	9q22	6850	spleen tyrosine kinase		L	1	Substitution - Missense(1)	breast(1)											177.0	168.0	171.0					9																	93629418		2203	4300	6503	-	-	-	SO:0001583	missense	0			L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"""SH2 domain containing"""	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.852G>T	9.37:g.93629418G>T	ENSP00000364907:p.Trp284Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.W284C	ENST00000375754.4	37	c.852	CCDS6688.1	9	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464520	0.43736	.	.	ENSG00000165025	ENST00000375754;ENST00000375746	T;T	0.72505	-0.66;-0.66	4.24	4.24	0.50183	.	0.172919	0.39687	N	0.001284	T	0.56262	0.1973	N	0.22421	0.69	0.58432	D	0.999999	P;P	0.44877	0.845;0.776	B;B	0.36289	0.221;0.19	T	0.63310	-0.6666	10	0.44086	T	0.13	.	17.9297	0.88993	0.0:0.0:1.0:0.0	.	284;284	P43405;C3W981	KSYK_HUMAN;.	C	284	ENSP00000364907:W284C;ENSP00000364898:W284C	ENSP00000364898:W284C	W	+	3	0	SYK	92669239	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.715000	0.61909	2.652000	0.90054	0.591000	0.81541	TGG	SYK	-	pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70	ENSG00000165025		0.428	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYK	HGNC	protein_coding	OTTHUMT00000053018.1	204	0.00	0	G			93629418	93629418	+1	no_errors	ENST00000375746	ensembl	human	known	69_37n	missense	161	25.81	56	SNP	1.000	T
SURF6	6838	genome.wustl.edu	37	9	136199031	136199031	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0WZ-01A-11D-A10G-09	TCGA-B6-A0WZ-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f6b8b1a9-370c-4023-b8bd-934e2a3d913a	a477963b-b0e1-4394-bfa3-cfc26c651ac8	g.chr9:136199031G>A	ENST00000372022.4	-	5	1025	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	254					ribosome biogenesis (GO:0042254)	granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		TCCTGGCCGCGCAGCTCGTCC	0.667																																						dbGAP											0													63.0	65.0	64.0					9																	136199031		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF186772	CCDS6962.1	9q33-q34	2010-07-06			ENSG00000148296	ENSG00000148296			11478	protein-coding gene	gene with protein product	"""surfeit locus protein 6"""	185642				9740673, 15629442	Standard	NM_006753		Approved	FLJ30322, RRP14	uc004cdb.4	O75683	OTTHUMG00000020871	ENST00000372022.4:c.760C>T	9.37:g.136199031G>A	ENSP00000361092:p.Arg254Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T8U1|Q9BRK9|Q9BTZ5|Q9UK24	Missense_Mutation	SNP	pfam_Surf6	p.R254C	ENST00000372022.4	37	c.760	CCDS6962.1	9	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535740	0.45176	.	.	ENSG00000148296	ENST00000372022	T	0.15834	2.39	5.08	4.1	0.47936	.	0.206894	0.39020	N	0.001487	T	0.40145	0.1105	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.31081	-0.9956	10	0.66056	D	0.02	-20.9256	12.0453	0.53477	0.0:0.0:0.7587:0.2413	.	254	O75683	SURF6_HUMAN	C	254	ENSP00000361092:R254C	ENSP00000361092:R254C	R	-	1	0	SURF6	135188852	0.997000	0.39634	1.000000	0.80357	0.122000	0.20287	1.914000	0.39966	2.351000	0.79841	0.467000	0.42956	CGC	SURF6	-	pfam_Surf6	ENSG00000148296		0.667	SURF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SURF6	HGNC	protein_coding	OTTHUMT00000054905.1	12	0.00	0	G	NM_006753		136199031	136199031	-1	no_errors	ENST00000372022	ensembl	human	known	69_37n	missense	2	77.78	7	SNP	1.000	A
TNS3	64759	genome.wustl.edu	37	7	47344561	47344561	+	Silent	SNP	C	C	T			TCGA-B6-A0WZ-01A-11D-A10G-09	TCGA-B6-A0WZ-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f6b8b1a9-370c-4023-b8bd-934e2a3d913a	a477963b-b0e1-4394-bfa3-cfc26c651ac8	g.chr7:47344561C>T	ENST00000398879.1	-	21	3057	c.2691G>A	c.(2689-2691)ggG>ggA	p.G897G	TNS3_ENST00000311160.9_Silent_p.G897G|TNS3_ENST00000355730.3_Silent_p.G657G			Q68CZ2	TENS3_HUMAN	tensin 3	897					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)		p.G897G(1)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TCTCTGACATCCCCACAGCGT	0.567																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											58.0	66.0	63.0					7																	47344561		2133	4250	6383	-	-	-	SO:0001819	synonymous_variant	0			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2691G>A	7.37:g.47344561C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.G897	ENST00000398879.1	37	c.2691	CCDS5506.2	7																																																																																			TNS3	-	NULL	ENSG00000136205		0.567	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS3	HGNC	protein_coding	OTTHUMT00000157253.1	49	0.00	0	C	NM_022748		47344561	47344561	-1	no_errors	ENST00000311160	ensembl	human	known	69_37n	silent	40	20.00	10	SNP	1.000	T
TOMM34	10953	genome.wustl.edu	37	20	43585106	43585106	+	Missense_Mutation	SNP	C	C	T	rs545616974		TCGA-B6-A0WZ-01A-11D-A10G-09	TCGA-B6-A0WZ-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f6b8b1a9-370c-4023-b8bd-934e2a3d913a	a477963b-b0e1-4394-bfa3-cfc26c651ac8	g.chr20:43585106C>T	ENST00000372813.3	-	2	300	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	50					protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)	p.E50K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				AGAACACTTTCTTCTTCTGGG	0.463																																						dbGAP											1	Substitution - Missense(1)	breast(1)											178.0	170.0	172.0					20																	43585106		2203	4300	6503	-	-	-	SO:0001583	missense	0			U58970	CCDS13340.1	20q12-q13.1	2013-01-10			ENSG00000025772	ENSG00000025772		"""Tetratricopeptide (TTC) repeat domain containing"""	15746	protein-coding gene	gene with protein product	"""outer mitochondrial membrane translocase (34kD)"""					9324309	Standard	NM_006809		Approved	TOM34, HTOM34P	uc002xmy.3	Q15785	OTTHUMG00000032552	ENST00000372813.3:c.148G>A	20.37:g.43585106C>T	ENSP00000361900:p.Glu50Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53GH9|Q6IBN7|Q9NTZ3	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E50K	ENST00000372813.3	37	c.148	CCDS13340.1	20	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545043	0.45280	.	.	ENSG00000025772	ENST00000372813	T	0.73681	-0.77	4.9	4.9	0.64082	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.225320	0.38959	N	0.001514	T	0.46698	0.1406	N	0.05124	-0.11	0.33964	D	0.646021	B	0.26935	0.164	B	0.23574	0.047	T	0.53394	-0.8445	10	0.05959	T	0.93	-15.9214	9.0739	0.36508	0.0:0.9021:0.0:0.0979	.	50	Q15785	TOM34_HUMAN	K	50	ENSP00000361900:E50K	ENSP00000361900:E50K	E	-	1	0	TOMM34	43018520	0.992000	0.36948	0.858000	0.33744	0.884000	0.51177	3.173000	0.50839	2.562000	0.86427	0.491000	0.48974	GAA	TOMM34	-	pfscan_TPR-contain_dom	ENSG00000025772		0.463	TOMM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM34	HGNC	protein_coding	OTTHUMT00000079390.3	69	0.00	0	C	NM_006809		43585106	43585106	-1	no_errors	ENST00000372813	ensembl	human	known	69_37n	missense	50	13.79	8	SNP	0.985	T
TSC22D1	8848	genome.wustl.edu	37	13	45148990	45148990	+	Silent	SNP	G	G	A			TCGA-B6-A0WZ-01A-11D-A10G-09	TCGA-B6-A0WZ-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f6b8b1a9-370c-4023-b8bd-934e2a3d913a	a477963b-b0e1-4394-bfa3-cfc26c651ac8	g.chr13:45148990G>A	ENST00000458659.2	-	1	1711	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	TSC22D1_ENST00000501704.2_Silent_p.F407F|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	407					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F407F(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TCACAACTCTGAACCTCGAAG	0.448																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											107.0	101.0	103.0					13																	45148990		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1221C>T	13.37:g.45148990G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Silent	SNP	pfam_TSC-22_Dip_Bun	p.F407	ENST00000458659.2	37	c.1221	CCDS31966.1	13																																																																																			TSC22D1	-	NULL	ENSG00000102804		0.448	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	TSC22D1	HGNC	protein_coding	OTTHUMT00000044743.2	99	0.00	0	G	NM_006022		45148990	45148990	-1	no_errors	ENST00000458659	ensembl	human	known	69_37n	silent	87	12.87	13	SNP	1.000	A
TSC22D1	8848	genome.wustl.edu	37	13	45149901	45149901	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0WZ-01A-11D-A10G-09	TCGA-B6-A0WZ-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f6b8b1a9-370c-4023-b8bd-934e2a3d913a	a477963b-b0e1-4394-bfa3-cfc26c651ac8	g.chr13:45149901G>C	ENST00000458659.2	-	1	800	c.310C>G	c.(310-312)Caa>Gaa	p.Q104E	TSC22D1_ENST00000501704.2_Missense_Mutation_p.Q104E|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	104					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q104E(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TTTTTCATTTGAGTTCCGCCT	0.527																																						dbGAP											1	Substitution - Missense(1)	breast(1)											100.0	105.0	104.0					13																	45149901		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.310C>G	13.37:g.45149901G>C	ENSP00000397435:p.Gln104Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	pfam_TSC-22_Dip_Bun	p.Q104E	ENST00000458659.2	37	c.310	CCDS31966.1	13	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254614	0.80135	.	.	ENSG00000102804	ENST00000458659;ENST00000501704;ENST00000493016	T;T;T	0.23950	1.88;1.88;1.88	4.44	4.44	0.53790	.	0.000000	0.49305	D	0.000142	T	0.32556	0.0833	N	0.19112	0.55	0.51233	D	0.999915	P;D	0.58970	0.811;0.984	P;D	0.68192	0.83;0.956	T	0.04930	-1.0917	10	0.17369	T	0.5	.	15.7941	0.78394	0.0:0.0:1.0:0.0	.	104;104	B3KRL7;Q15714	.;T22D1_HUMAN	E	104	ENSP00000397435:Q104E;ENSP00000437414:Q104E;ENSP00000418739:Q104E	ENSP00000397435:Q104E	Q	-	1	0	TSC22D1	44047901	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.592000	0.98245	2.289000	0.77006	0.491000	0.48974	CAA	TSC22D1	-	NULL	ENSG00000102804		0.527	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	TSC22D1	HGNC	protein_coding	OTTHUMT00000044743.2	65	0.00	0	G	NM_006022		45149901	45149901	-1	no_errors	ENST00000458659	ensembl	human	known	69_37n	missense	63	16.00	12	SNP	1.000	C
TTLL5	23093	genome.wustl.edu	37	14	76249634	76249634	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0WZ-01A-11D-A10G-09	TCGA-B6-A0WZ-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f6b8b1a9-370c-4023-b8bd-934e2a3d913a	a477963b-b0e1-4394-bfa3-cfc26c651ac8	g.chr14:76249634C>T	ENST00000298832.9	+	26	2952	c.2747C>T	c.(2746-2748)tCt>tTt	p.S916F	TTLL5_ENST00000554510.1_Missense_Mutation_p.S425F|TTLL5_ENST00000557636.1_Missense_Mutation_p.S930F|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000556893.1_Missense_Mutation_p.S467F	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	916					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)	p.S916F(1)		NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TGCCACCATTCTTCTTTATCT	0.488																																						dbGAP											1	Substitution - Missense(1)	breast(1)											151.0	143.0	146.0					14																	76249634		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.2747C>T	14.37:g.76249634C>T	ENSP00000298832:p.Ser916Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.S916F	ENST00000298832.9	37	c.2747	CCDS32124.1	14	.	.	.	.	.	.	.	.	.	.	C	11.79	1.744435	0.30865	.	.	ENSG00000119685	ENST00000418433;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	T;T;T;T	0.25912	3.88;3.96;1.77;1.77	5.33	3.5	0.40072	.	1.480500	0.03886	N	0.277818	T	0.23611	0.0571	N	0.19112	0.55	0.09310	N	1	P;P;P	0.42337	0.776;0.776;0.668	P;P;B	0.46758	0.526;0.526;0.224	T	0.22591	-1.0212	10	0.09338	T	0.73	.	9.3615	0.38199	0.0:0.7794:0.1441:0.0765	.	930;467;916	G3V2J9;Q6EMB2-2;Q6EMB2	.;.;TTLL5_HUMAN	F	603;930;916;467;467;425	ENSP00000450713:S930F;ENSP00000298832:S916F;ENSP00000452524:S467F;ENSP00000451946:S425F	ENSP00000298832:S916F	S	+	2	0	TTLL5	75319387	0.004000	0.15560	0.042000	0.18584	0.251000	0.25915	1.523000	0.35932	0.618000	0.30179	0.557000	0.71058	TCT	TTLL5	-	NULL	ENSG00000119685		0.488	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL5	HGNC	protein_coding	OTTHUMT00000414453.1	82	0.00	0	C	NM_015072		76249634	76249634	+1	no_errors	ENST00000298832	ensembl	human	known	69_37n	missense	94	17.39	20	SNP	0.051	T
UBC	7316	genome.wustl.edu	37	12	125397950	125397950	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0WZ-01A-11D-A10G-09	TCGA-B6-A0WZ-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f6b8b1a9-370c-4023-b8bd-934e2a3d913a	a477963b-b0e1-4394-bfa3-cfc26c651ac8	g.chr12:125397950C>G	ENST00000538617.1	-	3	684	c.368G>C	c.(367-369)gGa>gCa	p.G123A	UBC_ENST00000546120.1_Intron|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000339647.5_Missense_Mutation_p.G123A|UBC_ENST00000536769.1_Missense_Mutation_p.G123A|UBC_ENST00000536661.1_5'Flank			P0CG48	UBC_HUMAN	ubiquitin C	503	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)	p.G123A(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CAGCTGCTTTCCGGCAAAGAT	0.547																																						dbGAP											1	Substitution - Missense(1)	breast(1)											148.0	141.0	143.0					12																	125397950		2203	4298	6501	-	-	-	SO:0001583	missense	0				CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.368G>C	12.37:g.125397950C>G	ENSP00000443053:p.Gly123Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr	p.G123A	ENST00000538617.1	37	c.368		12	.	.	.	.	.	.	.	.	.	.	-	15.28	2.786418	0.49997	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000538617;ENST00000339647;ENST00000540351;ENST00000541645;ENST00000535131;ENST00000546271;ENST00000540700	D;D;D;D;D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36	4.12	4.12	0.48240	Ubiquitin supergroup (1);Ubiquitin conserved site (1);Ubiquitin (2);	0.000000	0.64402	U	0.000012	D	0.97300	0.9117	M	0.93197	3.39	0.80722	D	1	P;P;P	0.51449	0.853;0.823;0.945	D;P;D	0.65684	0.937;0.896;0.937	D	0.98525	1.0625	10	0.87932	D	0	.	15.327	0.74172	0.0:1.0:0.0:0.0	.	212;123;123	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	A	123	ENSP00000441543:G123A;ENSP00000443053:G123A;ENSP00000344818:G123A;ENSP00000442800:G123A;ENSP00000445337:G123A;ENSP00000439492:G123A;ENSP00000438289:G123A;ENSP00000441238:G123A	ENSP00000344818:G123A	G	-	2	0	UBC	123963903	1.000000	0.71417	0.329000	0.25429	0.815000	0.46073	6.510000	0.73729	2.011000	0.59026	0.650000	0.86243	GGA	UBC	-	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	ENSG00000150991		0.547	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	UBC	HGNC	protein_coding	OTTHUMT00000400179.1	112	0.00	0	C	NM_021009		125397950	125397950	-1	no_errors	ENST00000339647	ensembl	human	known	69_37n	missense	87	12.12	12	SNP	1.000	G
UNC5D	137970	genome.wustl.edu	37	8	35616880	35616880	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0WZ-01A-11D-A10G-09	TCGA-B6-A0WZ-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f6b8b1a9-370c-4023-b8bd-934e2a3d913a	a477963b-b0e1-4394-bfa3-cfc26c651ac8	g.chr8:35616880G>A	ENST00000404895.2	+	14	2534	c.2206G>A	c.(2206-2208)Gaa>Aaa	p.E736K	UNC5D_ENST00000449677.1_Missense_Mutation_p.E312K|UNC5D_ENST00000420357.1_Missense_Mutation_p.E669K|UNC5D_ENST00000416672.1_Missense_Mutation_p.E741K|UNC5D_ENST00000287272.2_Missense_Mutation_p.E667K|UNC5D_ENST00000453357.2_Missense_Mutation_p.E731K	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	736					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.E731K(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ACAGCTCCTGGAAGAACCAAA	0.378																																						dbGAP											1	Substitution - Missense(1)	breast(1)											165.0	158.0	160.0					8																	35616880		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2206G>A	8.37:g.35616880G>A	ENSP00000385143:p.Glu736Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WYP7	Missense_Mutation	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like	p.E736K	ENST00000404895.2	37	c.2206	CCDS6093.2	8	.	.	.	.	.	.	.	.	.	.	G	28.4	4.921163	0.92249	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.55234	0.56;0.98;0.98;0.56;0.53;2.45	5.24	5.24	0.73138	.	0.044914	0.85682	D	0.000000	T	0.59487	0.2197	M	0.68593	2.085	0.58432	D	0.999999	P;P;P	0.48503	0.856;0.911;0.856	B;P;B	0.45276	0.43;0.475;0.283	T	0.66148	-0.5996	10	0.72032	D	0.01	-20.3822	19.197	0.93693	0.0:0.0:1.0:0.0	.	312;731;736	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	K	736;669;667;741;731;312	ENSP00000385143:E736K;ENSP00000392739:E669K;ENSP00000287272:E667K;ENSP00000412652:E741K;ENSP00000394303:E731K;ENSP00000397211:E312K	ENSP00000287272:E667K	E	+	1	0	UNC5D	35736422	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.743000	0.98849	2.599000	0.87857	0.462000	0.41574	GAA	UNC5D	-	NULL	ENSG00000156687		0.378	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	185	0.00	0	G			35616880	35616880	+1	no_errors	ENST00000404895	ensembl	human	known	69_37n	missense	124	12.68	18	SNP	1.000	A
VANGL1	81839	genome.wustl.edu	37	1	116233968	116233968	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0WZ-01A-11D-A10G-09	TCGA-B6-A0WZ-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f6b8b1a9-370c-4023-b8bd-934e2a3d913a	a477963b-b0e1-4394-bfa3-cfc26c651ac8	g.chr1:116233968G>T	ENST00000355485.2	+	8	1814	c.1543G>T	c.(1543-1545)Gtc>Ttc	p.V515F	VANGL1_ENST00000310260.3_Missense_Mutation_p.V515F|VANGL1_ENST00000369509.1_Missense_Mutation_p.V515F|VANGL1_ENST00000369510.4_Missense_Mutation_p.V513F	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	515					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)		p.V515F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TCACAAATTTGTCCTTCGCTT	0.348																																						dbGAP											1	Substitution - Missense(1)	breast(1)											77.0	78.0	78.0					1																	116233968		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"""vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)"", ""vang-like 1 (van gogh, Drosophila)"""			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.1543G>T	1.37:g.116233968G>T	ENSP00000347672:p.Val515Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Missense_Mutation	SNP	pfam_Strabismus,pirsf_Strabismus	p.V515F	ENST00000355485.2	37	c.1543	CCDS883.1	1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383749	0.82792	.	.	ENSG00000173218	ENST00000355485;ENST00000369510;ENST00000310260;ENST00000369509	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.90459	0.7012	M	0.87456	2.885	0.80722	D	1	P;P	0.51147	0.928;0.942	P;P	0.53062	0.595;0.717	D	0.90994	0.4837	10	0.59425	D	0.04	-0.3447	19.3673	0.94469	0.0:0.0:1.0:0.0	.	513;515	Q8TAA9-2;Q8TAA9	.;VANG1_HUMAN	F	515;513;515;515	ENSP00000347672:V515F;ENSP00000358523:V513F;ENSP00000310800:V515F;ENSP00000358522:V515F	ENSP00000310800:V515F	V	+	1	0	VANGL1	116035491	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.943000	0.56621	2.805000	0.96524	0.655000	0.94253	GTC	VANGL1	-	pfam_Strabismus,pirsf_Strabismus	ENSG00000173218		0.348	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VANGL1	HGNC	protein_coding	OTTHUMT00000033096.1	70	0.00	0	G			116233968	116233968	+1	no_errors	ENST00000310260	ensembl	human	known	69_37n	missense	51	39.29	33	SNP	1.000	T
ZFYVE16	9765	genome.wustl.edu	37	5	79733498	79733498	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B6-A0WZ-01A-11D-A10G-09	TCGA-B6-A0WZ-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f6b8b1a9-370c-4023-b8bd-934e2a3d913a	a477963b-b0e1-4394-bfa3-cfc26c651ac8	g.chr5:79733498C>T	ENST00000338008.5	+	3	1174	c.994C>T	c.(994-996)Cag>Tag	p.Q332*	ZFYVE16_ENST00000510158.1_Nonsense_Mutation_p.Q332*|ZFYVE16_ENST00000505560.1_Nonsense_Mutation_p.Q332*	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	332					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)	p.Q332*(1)		breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		CTTTTCCTTTCAGGAAGATAA	0.333																																					Melanoma(150;1452 1854 16018 17851 37292)	dbGAP											1	Substitution - Nonsense(1)	breast(1)											63.0	64.0	64.0					5																	79733498		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0			AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.994C>T	5.37:g.79733498C>T	ENSP00000337159:p.Gln332*	Somatic		WXS	Illumina GAIIx	Phase_IV	O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Nonsense_Mutation	SNP	pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.Q332*	ENST00000338008.5	37	c.994	CCDS4050.1	5	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554683	0.65425	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	.	.	.	5.1	0.761	0.18448	.	0.663348	0.13376	N	0.392533	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	0.7896	8.9621	0.35854	0.2747:0.4587:0.2666:0.0	.	.	.	.	X	332	.	ENSP00000337159:Q332X	Q	+	1	0	ZFYVE16	79769254	0.370000	0.25047	0.713000	0.30519	0.576000	0.36127	0.294000	0.19047	0.206000	0.20587	0.563000	0.77884	CAG	ZFYVE16	-	pirsf_Znf_FYVE_SARA/endofin	ENSG00000039319		0.333	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE16	HGNC	protein_coding	OTTHUMT00000226982.2	114	0.00	0	C	NM_014733		79733498	79733498	+1	no_errors	ENST00000338008	ensembl	human	known	69_37n	nonsense	98	13.27	15	SNP	0.935	T
