#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_ENSG_ID	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_Ens_Gene	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	i_HGNC	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_Normal_Alt_Count	i_Normal_Ref_Count	i_Normal_VAF	i_ORegAnno_bin	i_PurityEst	i_RNA_Tum_Ref_count	i_RNA_Tum_VAF	i_RNA_Tum_Var_count	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Tier	i_Tumor_Alt_Count	i_Tumor_Ref_Count	i_Tumor_VAF	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_WGS_Norm_Ref_count	i_WGS_Norm_VAF	i_WGS_Norm_Var_count	i_WGS_Tum_Ref_count	i_WGS_Tum_VAF	i_WGS_Tum_Var_count	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_rs_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
C5orf15	56951	genome.wustl.edu	37	5	133295199	133295199	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr5:133295199G>C	ENST00000231512.3	-	2	854	c.652C>G	c.(652-654)Cac>Gac	p.H218D	C5orf15_ENST00000507191.1_5'Flank	NM_020199.2	NP_064584.1	Q8NC54	KCT2_HUMAN	chromosome 5 open reading frame 15	218						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			CTTTTGTTGTGATATGTAATG	0.279																																																	0								ENSG00000113583						37.0	40.0	39.0					5																	133295199		2203	4300	6503	C5orf15	SO:0001583	missense	0			-	HGNC	AF226055	CCDS4167.1	5q31.1	2012-02-22			ENSG00000113583	ENSG00000113583			20656	protein-coding gene	gene with protein product	"""keratinocytes associated transmembrane protein 2"""						Standard	NM_020199		Approved	KCT2, HTGN29	uc003kyo.3	Q8NC54	OTTHUMG00000129125	ENST00000231512.3:c.652C>G	5.37:g.133295199G>C	ENSP00000231512:p.His218Asp	Somatic	0	116	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	37	31.48	B2RD10|D3DQ92|Q9NRG2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.H218D	ENST00000231512.3	37	c.652	CCDS4167.1	5	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511640	0.85389	.	.	ENSG00000113583	ENST00000231512;ENST00000451255	.	.	.	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000001	D	0.83018	0.5163	M	0.78049	2.395	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.84173	0.0435	9	0.72032	D	0.01	-19.534	18.9319	0.92570	0.0:0.0:1.0:0.0	.	218	Q8NC54	KCT2_HUMAN	D	218;118	.	ENSP00000231512:H218D	H	-	1	0	C5orf15	133323098	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.959000	0.93110	2.727000	0.93392	0.655000	0.94253	CAC	-	NULL		0.279	C5orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf15	protein_coding	OTTHUMT00000251175.1	G	NM_020199	-		133295199	-1	no_errors	ENST00000231512	ensembl	human	known	74_37	missense	SNP	1.000	C
TTK	7272	genome.wustl.edu	37	6	80737669	80737669	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr6:80737669C>T	ENST00000369798.2	+	13	1573	c.1462C>T	c.(1462-1464)Cct>Tct	p.P488S	TTK_ENST00000230510.3_Missense_Mutation_p.P487S|TTK_ENST00000509894.1_Missense_Mutation_p.P487S	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	488					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TTATGGCCAACCTGCCTGTTT	0.343																																																	0								ENSG00000112742						86.0	79.0	81.0					6																	80737669		2203	4300	6503	TTK	SO:0001583	missense	0			-	HGNC		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.1462C>T	6.37:g.80737669C>T	ENSP00000358813:p.Pro488Ser	Somatic	0	79	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	35	12.50	A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P488S	ENST00000369798.2	37	c.1462	CCDS4993.1	6	.	.	.	.	.	.	.	.	.	.	C	0.369	-0.935199	0.02340	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.67865	-0.29;-0.29;-0.29	5.99	2.17	0.27698	.	1.596010	0.03078	N	0.158099	T	0.22898	0.0553	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.09509	-1.0671	10	0.08837	T	0.75	.	5.3844	0.16211	0.0:0.4997:0.2747:0.2256	.	488;487	P33981;A8K8U5	TTK_HUMAN;.	S	487;487;488	ENSP00000422936:P487S;ENSP00000230510:P487S;ENSP00000358813:P488S	ENSP00000230510:P487S	P	+	1	0	TTK	80794388	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.346000	0.19997	0.112000	0.17975	-0.140000	0.14226	CCT	-	NULL		0.343	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTK	protein_coding	OTTHUMT00000041316.2	C		-		80737669	+1	no_errors	ENST00000369798	ensembl	human	known	74_37	missense	SNP	0.000	T
SYT8	90019	genome.wustl.edu	37	11	1856592	1856592	+	Missense_Mutation	SNP	G	G	T	rs148442765		TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr11:1856592G>T	ENST00000381968.3	+	3	331	c.203G>T	c.(202-204)tGt>tTt	p.C68F	SYT8_ENST00000535046.1_Missense_Mutation_p.C206F|SYT8_ENST00000436964.2_Missense_Mutation_p.C54F|SYT8_ENST00000341958.3_Missense_Mutation_p.C54F	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	68	Cys-rich.				acrosome reaction (GO:0007340)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGCCTCCTCTGTGCTGCCTGC	0.701																																																	0								ENSG00000149043						16.0	19.0	18.0					11																	1856592		2189	4282	6471	SYT8	SO:0001583	missense	0			-	HGNC	AL137708	CCDS7726.2	11p15.5	2013-01-21			ENSG00000149043	ENSG00000149043		"""Synaptotagmins"""	19264	protein-coding gene	gene with protein product		607719				7791877	Standard	XM_005253216		Approved	DKFZp434K0322	uc001lue.1	Q8NBV8	OTTHUMG00000009026	ENST00000381968.3:c.203G>T	11.37:g.1856592G>T	ENSP00000371394:p.Cys68Phe	Somatic	0	81	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	A6NFJ4|Q9NSV9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin	p.C68F	ENST00000381968.3	37	c.203	CCDS7726.2	11	.	.	.	.	.	.	.	.	.	.	g	12.37	1.916668	0.33815	.	.	ENSG00000149043	ENST00000436964;ENST00000430303;ENST00000417052;ENST00000535046;ENST00000381968;ENST00000341958	T;T;T;T;T;T	0.59502	1.03;0.26;0.34;1.26;2.36;2.4	3.34	3.34	0.38264	.	.	.	.	.	T	0.70666	0.3250	M	0.84326	2.69	0.45139	D	0.998151	P;P;P;P	0.50943	0.94;0.94;0.901;0.901	P;P;B;B	0.59056	0.851;0.656;0.333;0.333	T	0.71576	-0.4551	9	0.41790	T	0.15	.	9.3844	0.38333	0.0:0.0:0.7865:0.2135	.	54;54;68;54	C9JSK3;B4DDZ3;Q8NBV8;A6NCR4	.;.;SYT8_HUMAN;.	F	54;54;54;206;68;54	ENSP00000414626:C54F;ENSP00000392469:C54F;ENSP00000387678:C54F;ENSP00000443325:C206F;ENSP00000371394:C68F;ENSP00000343691:C54F	ENSP00000343691:C54F	C	+	2	0	SYT8	1813168	0.955000	0.32602	0.269000	0.24586	0.125000	0.20455	1.481000	0.35476	1.900000	0.55004	0.305000	0.20034	TGT	-	NULL		0.701	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYT8	protein_coding	OTTHUMT00000025013.4	G		-		1856592	+1	no_errors	ENST00000381968	ensembl	human	known	74_37	missense	SNP	0.513	T
HSPG2	3339	genome.wustl.edu	37	1	22169884	22169885	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr1:22169884_22169885delAG	ENST00000374695.3	-	66	8742_8743	c.8663_8664delCT	c.(8662-8664)tctfs	p.S2888fs		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2888	Ig-like C2-type 14.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	AGTACTCGCCAGAGTCAGCCGG	0.644																																																	0								ENSG00000142798																																			HSPG2	SO:0001589	frameshift_variant	0				HGNC	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.8663_8664delCT	1.37:g.22169886_22169887delAG	ENSP00000363827:p.Ser2888fs	Somatic	0	145	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	31	16.22	Q16287|Q5SZI3|Q9H3V5	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	p.S2888fs	ENST00000374695.3	37	c.8664_8663	CCDS30625.1	1																																																																																			-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.644	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	protein_coding	OTTHUMT00000007598.1	AG	NM_005529			22169885	-1	no_errors	ENST00000374695	ensembl	human	known	74_37	frame_shift_del	DEL	0.999:1.000	-
KMT2A	4297	genome.wustl.edu	37	11	118343956	118343956	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr11:118343956delC	ENST00000389506.5	+	3	2082	c.2082delC	c.(2080-2082)agcfs	p.S694fs	KMT2A_ENST00000534358.1_Frame_Shift_Del_p.S694fs|KMT2A_ENST00000354520.4_Frame_Shift_Del_p.S694fs			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	694					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										ACAAAAGGAGCCCTCTTCTGA	0.453																																																	0								ENSG00000118058						58.0	58.0	58.0					11																	118343956		2200	4296	6496	KMT2A	SO:0001589	frameshift_variant	0				HGNC	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.2082delC	11.37:g.118343956delC	ENSP00000374157:p.Ser694fs	Somatic	0	66	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	16	11.11	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.P695fs	ENST00000389506.5	37	c.2082	CCDS31686.1	11																																																																																			-	pirsf_MeTrfase_trithorax		0.453	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2A	protein_coding	OTTHUMT00000399085.2	C	NM_005933			118343956	+1	no_errors	ENST00000389506	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-
AMY2B	280	genome.wustl.edu	37	1	104118398	104118399	+	Intron	INS	-	-	A	rs371844100		TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr1:104118398_104118399insA	ENST00000361355.4	+	9	1717				AMY2B_ENST00000491397.1_Intron	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)						carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TAGCCCACAGGAAAAAAAAAAA	0.327																																																	0								ENSG00000240038																																			AMY2B	SO:0001627	intron_variant	0				HGNC	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.1101+236->A	1.37:g.104118409_104118409dupA		Somatic	0	11	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	11	26.67	B3KTI1|B3KXB7|D3DT76|Q9UBH3	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000361355.4	37	NULL	CCDS782.1	1																																																																																			-	-		0.327	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2B	protein_coding	OTTHUMT00000030318.1	-	NM_020978			104118399	+1	no_errors	ENST00000462971	ensembl	human	known	74_37	rna	INS	0.002:0.005	A
WASH6P	653440	genome.wustl.edu	37	X	155253591	155253591	+	RNA	SNP	G	G	A			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chrX:155253591G>A	ENST00000461007.1	+	0	2507				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										CAGGATGCCCGCGCTCAGGTG	0.637																																																	0								ENSG00000182484																																			WASH6P			0			-	HGNC	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155253591G>A		Somatic	0	245	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	62	13.89	A6NGF1|Q8N305	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000461007.1	37	NULL		X																																																																																			-	-		0.637	WASH6P-016	KNOWN	basic	processed_transcript	WASH6P	pseudogene	OTTHUMT00000058840.1	G	NG_008380	-		155253591	+1	no_errors	ENST00000461007	ensembl	human	known	74_37	rna	SNP	0.004	A
MS4A2	2206	genome.wustl.edu	37	11	59860903	59860903	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr11:59860903A>G	ENST00000278888.3	+	5	511	c.409A>G	c.(409-411)Agc>Ggc	p.S137G		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	137					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	AAACACTGCCAGCAGCATAGC	0.468																																																	0								ENSG00000149534						111.0	103.0	105.0					11																	59860903		2201	4295	6496	MS4A2	SO:0001583	missense	0			-	HGNC	M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"""Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"""	147138	"""IgE responsiveness (atopic)"", ""membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"""	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.409A>G	11.37:g.59860903A>G	ENSP00000278888:p.Ser137Gly	Somatic	0	106	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	20	37.50	Q54A81	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CD20-like	p.S137G	ENST00000278888.3	37	c.409	CCDS7980.1	11	.	.	.	.	.	.	.	.	.	.	A	22.4	4.282700	0.80692	.	.	ENSG00000149534	ENST00000278888	T	0.05447	3.44	4.33	3.16	0.36331	.	0.189494	0.52532	D	0.000063	T	0.26955	0.0660	M	0.92738	3.34	0.19945	N	0.999946	D;D	0.65815	0.995;0.99	D;D	0.69307	0.963;0.933	T	0.09400	-1.0676	10	0.66056	D	0.02	-21.7658	7.1361	0.25529	0.801:0.0:0.0:0.199	.	67;137	Q14298;Q01362	.;FCERB_HUMAN	G	137	ENSP00000278888:S137G	ENSP00000278888:S137G	S	+	1	0	MS4A2	59617479	0.946000	0.32159	0.201000	0.23476	0.893000	0.52053	2.116000	0.41930	0.946000	0.37632	0.528000	0.53228	AGC	-	pfam_CD20-like		0.468	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A2	protein_coding	OTTHUMT00000393844.1	A		-		59860903	+1	no_errors	ENST00000278888	ensembl	human	known	74_37	missense	SNP	0.231	G
OBFC1	79991	genome.wustl.edu	37	10	105658736	105658736	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr10:105658736C>A	ENST00000224950.3	-	6	647	c.480G>T	c.(478-480)tgG>tgT	p.W160C	OBFC1_ENST00000369764.1_Missense_Mutation_p.W160C|OBFC1_ENST00000466828.1_5'UTR	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	160					positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromosome, telomeric region (GO:0000784)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)|single-stranded telomeric DNA binding (GO:0043047)			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		TTTGAATGTTCCACACTGGGT	0.423																																																	0								ENSG00000107960						109.0	100.0	103.0					10																	105658736		2203	4300	6503	OBFC1	SO:0001583	missense	0			-	HGNC	BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960			26200	protein-coding gene	gene with protein product		613128				12477932	Standard	NM_024928		Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.480G>T	10.37:g.105658736C>A	ENSP00000224950:p.Trp160Cys	Somatic	0	79	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	D3DR99|Q5TCZ0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CST_STN1_C,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pirsf_CST_STN1	p.W160C	ENST00000224950.3	37	c.480	CCDS7552.1	10	.	.	.	.	.	.	.	.	.	.	C	5.609	0.297144	0.10622	.	.	ENSG00000107960	ENST00000224950;ENST00000369764	T;T	0.44881	0.91;0.91	5.89	4.06	0.47325	Nucleic acid-binding, OB-fold-like (1);Domain of unknown function DUF1879, CTS complex STN1 subunit (1);	0.244296	0.49305	N	0.000145	T	0.19485	0.0468	N	0.04746	-0.17	0.47183	D	0.999349	B	0.09022	0.002	B	0.12156	0.007	T	0.05273	-1.0895	10	0.17369	T	0.5	-1.1661	8.175	0.31276	0.1418:0.6259:0.2323:0.0	.	160	Q9H668	STN1_HUMAN	C	160	ENSP00000224950:W160C;ENSP00000358779:W160C	ENSP00000224950:W160C	W	-	3	0	OBFC1	105648726	1.000000	0.71417	0.968000	0.41197	0.994000	0.84299	0.655000	0.24933	0.842000	0.35045	0.555000	0.69702	TGG	-	pfam_CST_STN1_C,superfamily_NA-bd_OB-fold,pirsf_CST_STN1		0.423	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OBFC1	protein_coding	OTTHUMT00000050174.1	C	NM_024928	-		105658736	-1	no_errors	ENST00000224950	ensembl	human	known	74_37	missense	SNP	0.998	A
DSCAML1	57453	genome.wustl.edu	37	11	117308034	117308034	+	Silent	SNP	G	G	A			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr11:117308034G>A	ENST00000321322.6	-	26	4705	c.4704C>T	c.(4702-4704)tgC>tgT	p.C1568C	DSCAML1_ENST00000527706.1_Silent_p.C1298C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1508	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTGTGATAGGGCAGCCCCCAT	0.627																																																	0								ENSG00000177103						129.0	120.0	123.0					11																	117308034		2201	4296	6497	DSCAML1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4704C>T	11.37:g.117308034G>A		Somatic	0	58	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.C1568	ENST00000321322.6	37	c.4704	CCDS8384.1	11																																																																																			-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.627	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	protein_coding	OTTHUMT00000392907.2	G	NM_020693	-		117308034	-1	no_errors	ENST00000321322	ensembl	human	known	74_37	silent	SNP	1.000	A
FBP1	2203	genome.wustl.edu	37	9	97367745	97367746	+	Frame_Shift_Ins	INS	-	-	T	rs143965326		TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr9:97367745_97367746insT	ENST00000375326.4	-	6	1014_1015	c.818_819insA	c.(817-819)aatfs	p.N273fs	FBP1_ENST00000415431.1_Frame_Shift_Ins_p.N273fs	NM_000507.3	NP_000498.2	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	273					carbohydrate metabolic process (GO:0005975)|cellular response to drug (GO:0035690)|cellular response to magnesium ion (GO:0071286)|dephosphorylation (GO:0016311)|fructose 6-phosphate metabolic process (GO:0006002)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|negative regulation of cell growth (GO:0030308)|negative regulation of glycolytic process (GO:0045820)|negative regulation of Ras protein signal transduction (GO:0046580)|protein homotetramerization (GO:0051289)|regulation of gluconeogenesis (GO:0006111)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	AMP binding (GO:0016208)|fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|monosaccharide binding (GO:0048029)			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	TTACCTTTCCATTGGGGCTCTT	0.515																																					Ovarian(142;590 2466 25593 44496)												0								ENSG00000165140																																			FBP1	SO:0001589	frameshift_variant	0				HGNC	M19922	CCDS6712.1	9q22.3	2012-08-13			ENSG00000165140	ENSG00000165140	3.1.3.11		3606	protein-coding gene	gene with protein product		611570		FBP		8387495	Standard	NM_000507		Approved		uc004auw.4	P09467	OTTHUMG00000020268	ENST00000375326.4:c.819dupA	9.37:g.97367747_97367747dupT	ENSP00000364475:p.Asn273fs	Somatic	0	57	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	15	11.76	O75571|Q53F94|Q96E46	Frame_Shift_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_FBPase_class-1/SBPase,pfam_Inositol_monophosphatase,prints_FBPtase,prints_SBPase	p.N273fs	ENST00000375326.4	37	c.819_818	CCDS6712.1	9																																																																																			-	pfam_FBPase_class-1/SBPase		0.515	FBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBP1	protein_coding	OTTHUMT00000053187.1	-	NM_000507			97367746	-1	no_errors	ENST00000375326	ensembl	human	known	74_37	frame_shift_ins	INS	0.000:0.201	T
KIF5C	3800	genome.wustl.edu	37	2	149879946	149879946	+	3'UTR	DEL	A	A	-			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr2:149879946delA	ENST00000435030.1	+	0	3604				KIF5C_ENST00000397413.1_3'UTR|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_3'UTR			O60282	KIF5C_HUMAN	kinesin family member 5C						ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AGAGGGGAACAACCAAGTGCC	0.498																																																	0								ENSG00000168280																																			KIF5C	SO:0001624	3_prime_UTR_variant	0				HGNC	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.*362A>-	2.37:g.149879946delA		Somatic	0	48	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	14	12.50	O95079|Q2YDC5	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000435030.1	37	NULL		2																																																																																			-	-		0.498	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	KIF5C	protein_coding	OTTHUMT00000332562.3	A	NM_004522			149879946	+1	no_errors	ENST00000464066	ensembl	human	known	74_37	rna	DEL	0.847	-
DSPP	1834	genome.wustl.edu	37	4	88536614	88536614	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr4:88536614A>G	ENST00000282478.7	+	4	2833	c.2800A>G	c.(2800-2802)Aat>Gat	p.N934D	DSPP_ENST00000399271.1_Missense_Mutation_p.N934D|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	934	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		tgacaacagcaatagcagtga	0.478																																																	0								ENSG00000152591																																			DSPP	SO:0001583	missense	0			-	HGNC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2800A>G	4.37:g.88536614A>G	ENSP00000282478:p.Asn934Asp	Somatic	1	120	0.83		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	55	9.84	A8MUI0|O95815	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.N934D	ENST00000282478.7	37	c.2800	CCDS43248.1	4	.	.	.	.	.	.	.	.	.	.	a	0.025	-1.380186	0.01204	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.87334	-2.24;-2.24	1.73	0.826	0.18829	.	.	.	.	.	T	0.72374	0.3452	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.54091	-0.8345	9	0.09843	T	0.71	.	4.3182	0.11003	0.2182:0.0:0.7818:0.0	.	934	Q9NZW4	DSPP_HUMAN	D	934	ENSP00000382213:N934D;ENSP00000282478:N934D	ENSP00000282478:N934D	N	+	1	0	DSPP	88755638	0.001000	0.12720	0.381000	0.26106	0.004000	0.04260	0.109000	0.15417	0.304000	0.22809	-1.256000	0.01477	AAT	-	NULL		0.478	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	protein_coding	OTTHUMT00000363616.3	A	NM_014208	-		88536614	+1	no_errors	ENST00000282478	ensembl	human	known	74_37	missense	SNP	0.354	G
SLC6A9	6536	genome.wustl.edu	37	1	44466534	44466534	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr1:44466534G>A	ENST00000360584.2	-	12	1851	c.1660C>T	c.(1660-1662)Cgg>Tgg	p.R554W	SLC6A9_ENST00000537678.1_3'UTR|SLC6A9_ENST00000357730.2_Missense_Mutation_p.R500W|SLC6A9_ENST00000372307.3_Missense_Mutation_p.R416W|SLC6A9_ENST00000372310.3_Missense_Mutation_p.R481W|SLC6A9_ENST00000475075.2_Missense_Mutation_p.R370W|SLC6A9_ENST00000372306.3_Missense_Mutation_p.P510L	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	554					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	AAGTAGTTCCGGTGCCCTGGA	0.632																																																	0								ENSG00000196517						58.0	63.0	61.0					1																	44466534		2203	4300	6503	SLC6A9	SO:0001583	missense	0			-	HGNC	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.1660C>T	1.37:g.44466534G>A	ENSP00000353791:p.Arg554Trp	Somatic	0	122	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	47	29.85	A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1	p.R554W	ENST00000360584.2	37	c.1660	CCDS41317.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.73|15.73	2.919998|2.919998	0.52653|0.52653	.|.	.|.	ENSG00000196517|ENSG00000196517	ENST00000372306|ENST00000372307;ENST00000372310;ENST00000475075;ENST00000360584;ENST00000357730	T|T;T;T;T;T	0.72942|0.75154	-0.7|-0.91;-0.91;-0.91;-0.91;-0.91	5.62|5.62	3.69|3.69	0.42338|0.42338	.|.	.|0.326887	.|0.34507	.|N	.|0.003901	T|T	0.81489|0.81489	0.4833|0.4833	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	B|D;B;B;B;D	0.29766|0.76494	0.256|0.996;0.305;0.138;0.034;0.999	B|P;B;B;B;P	0.18871|0.60173	0.023|0.803;0.142;0.021;0.013;0.87	T|T	0.81595|0.81595	-0.0861|-0.0861	9|10	0.33141|0.72032	T|D	0.24|0.01	.|.	10.3898|10.3898	0.44162|0.44162	0.0:0.1317:0.595:0.2733|0.0:0.1317:0.595:0.2733	.|.	510|485;416;481;500;554	B7Z8W5|B7Z3W8;B7Z3A9;P48067-2;P48067-3;P48067	.|.;.;.;.;SC6A9_HUMAN	L|W	510|416;481;370;554;500	ENSP00000361380:P510L|ENSP00000361381:R416W;ENSP00000361384:R481W;ENSP00000434460:R370W;ENSP00000353791:R554W;ENSP00000350362:R500W	ENSP00000361380:P510L|ENSP00000350362:R500W	P|R	-|-	2|1	0|2	SLC6A9|SLC6A9	44239121|44239121	0.895000|0.895000	0.30542|0.30542	0.689000|0.689000	0.30133|0.30133	0.997000|0.997000	0.91878|0.91878	1.334000|1.334000	0.33827|0.33827	0.682000|0.682000	0.31407|0.31407	0.655000|0.655000	0.94253|0.94253	CCG|CGG	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.632	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	SLC6A9	protein_coding	OTTHUMT00000022825.2	G	NM_201649	-		44466534	-1	no_errors	ENST00000360584	ensembl	human	known	74_37	missense	SNP	0.995	A
EMC7	56851	genome.wustl.edu	37	15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	AGC	AGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	EMC7_ENST00000532113.1_5'UTR|PGBD4_ENST00000397766.2_5'Flank	NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	16						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										ATCCCCCGATAGCAGCAGCAGCA	0.665																																																	0								ENSG00000134153																																			EMC7	SO:0001651	inframe_deletion	0				HGNC	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 24"""	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.48_50delGCT	15.37:g.34394000_34394002delAGC	ENSP00000256545:p.Leu17del	Somatic	0	39	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	B2RC00|Q96ED5	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_DUF2012,superfamily_Carb-bd-like_fold	p.L17in_frame_del	ENST00000256545.4	37	c.50_48	CCDS10032.1	15																																																																																			-	NULL		0.665	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	EMC7	protein_coding	OTTHUMT00000251519.1	AGC	NM_020154			34393993	-1	no_errors	ENST00000256545	ensembl	human	known	74_37	in_frame_del	DEL	0.275:0.430:0.449	-
COMP	1311	genome.wustl.edu	37	19	18895027	18895027	+	Silent	SNP	C	C	T			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr19:18895027C>T	ENST00000222271.2	-	17	2105	c.2061G>A	c.(2059-2061)caG>caA	p.Q687Q	COMP_ENST00000425807.1_Silent_p.Q634Q|COMP_ENST00000542601.2_Silent_p.Q654Q	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	687	Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GGGGCCGGTGCTGCAGGAACC	0.637																																																	0								ENSG00000105664						95.0	82.0	86.0					19																	18895027		2203	4300	6503	COMP	SO:0001819	synonymous_variant	0			-	HGNC	L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"""thrombospondin-5"""	600310	"""cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"""	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.2061G>A	19.37:g.18895027C>T		Somatic	0	106	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd_dom,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.Q687	ENST00000222271.2	37	c.2061	CCDS12385.1	19																																																																																			-	pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf		0.637	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMP	protein_coding	OTTHUMT00000403457.1	C	NM_000095	-		18895027	-1	no_errors	ENST00000222271	ensembl	human	known	74_37	silent	SNP	1.000	T
IRX1	79192	genome.wustl.edu	37	5	3599481	3599481	+	Missense_Mutation	SNP	G	G	A	rs376527513		TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr5:3599481G>A	ENST00000302006.3	+	2	471	c.419G>A	c.(418-420)aGc>aAc	p.S140N	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	140					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GAGAGCACCAGCACGCTCAAG	0.642																																																	0								ENSG00000170549						114.0	94.0	101.0					5																	3599481		2203	4300	6503	IRX1	SO:0001583	missense	0			-	HGNC	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.419G>A	5.37:g.3599481G>A	ENSP00000305244:p.Ser140Asn	Somatic	0	108	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	50	9.09	Q7Z2F8|Q8N312	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.S140N	ENST00000302006.3	37	c.419	CCDS34132.1	5	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745206	0.69418	.	.	ENSG00000170549	ENST00000302006	D	0.83755	-1.76	4.51	3.63	0.41609	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.123081	0.85682	D	0.000000	D	0.84933	0.5582	M	0.66939	2.045	0.54753	D	0.999981	P	0.49783	0.928	P	0.48982	0.597	D	0.85797	0.1371	10	0.56958	D	0.05	-24.0892	14.4312	0.67251	0.0:0.1488:0.8512:0.0	.	140	P78414	IRX1_HUMAN	N	140	ENSP00000305244:S140N	ENSP00000305244:S140N	S	+	2	0	IRX1	3652481	1.000000	0.71417	0.997000	0.53966	0.755000	0.42902	5.276000	0.65580	0.967000	0.38186	0.655000	0.94253	AGC	-	superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.642	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX1	protein_coding	OTTHUMT00000365546.1	G	NM_024337	-		3599481	+1	no_errors	ENST00000302006	ensembl	human	known	74_37	missense	SNP	1.000	A
CALB1	793	genome.wustl.edu	37	8	91094268	91094268	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr8:91094268T>C	ENST00000265431.3	-	2	323	c.142A>G	c.(142-144)Aag>Gag	p.K48E	CALB1_ENST00000518457.1_5'Flank	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	48					cellular response to organic substance (GO:0071310)|cytosolic calcium ion homeostasis (GO:0051480)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|metanephric collecting duct development (GO:0072205)|metanephric connecting tubule development (GO:0072286)|metanephric distal convoluted tubule development (GO:0072221)|metanephric part of ureteric bud development (GO:0035502)|regulation of synaptic plasticity (GO:0048167)|retina layer formation (GO:0010842)|short-term memory (GO:0007614)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|vitamin D binding (GO:0005499)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CCAGCCTTCTTTCGCGCCTGC	0.448																																					Melanoma(46;573 1182 27367 39727 48386)												0								ENSG00000104327						114.0	122.0	119.0					8																	91094268		2203	4300	6503	CALB1	SO:0001583	missense	0			-	HGNC		CCDS6251.1	8q21.3	2013-01-10	2002-08-29		ENSG00000104327	ENSG00000104327		"""EF-hand domain containing"""	1434	protein-coding gene	gene with protein product		114050		CALB			Standard	NM_004929		Approved		uc003yel.1	P05937	OTTHUMG00000134314	ENST00000265431.3:c.142A>G	8.37:g.91094268T>C	ENSP00000265431:p.Lys48Glu	Somatic	0	76	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	11	31.25	B2R696|B7Z9J4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.K48E	ENST00000265431.3	37	c.142	CCDS6251.1	8	.	.	.	.	.	.	.	.	.	.	T	19.34	3.808786	0.70797	.	.	ENSG00000104327	ENST00000265431	D	0.90563	-2.69	5.48	5.48	0.80851	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.90683	0.7077	M	0.75447	2.3	0.80722	D	1	B	0.25235	0.121	B	0.34824	0.19	D	0.87468	0.2412	10	0.27082	T	0.32	-22.9155	13.3838	0.60785	0.0:0.0:0.0:1.0	.	48	P05937	CALB1_HUMAN	E	48	ENSP00000265431:K48E	ENSP00000265431:K48E	K	-	1	0	CALB1	91163444	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	5.192000	0.65115	2.215000	0.71742	0.460000	0.39030	AAG	-	NULL		0.448	CALB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALB1	protein_coding	OTTHUMT00000259338.2	T	NM_004929	-		91094268	-1	no_errors	ENST00000265431	ensembl	human	known	74_37	missense	SNP	0.999	C
EHMT1	79813	genome.wustl.edu	37	9	140611422	140611422	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr9:140611422G>T	ENST00000460843.1	+	3	457	c.430G>T	c.(430-432)Gcc>Tcc	p.A144S	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.A144S|EHMT1_ENST00000334856.6_Missense_Mutation_p.A113S	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	144					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CAGCACTCTGGCCTCTTCGCT	0.597																																																	0								ENSG00000181090						59.0	62.0	61.0					9																	140611422		2202	4300	6502	EHMT1	SO:0001583	missense	0			-	HGNC	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.430G>T	9.37:g.140611422G>T	ENSP00000417980:p.Ala144Ser	Somatic	1	120	0.82		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	57	8.06	B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.A144S	ENST00000460843.1	37	c.430	CCDS7050.2	9	.	.	.	.	.	.	.	.	.	.	g	16.59	3.165542	0.57476	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.71103	1.55;0.77;-0.54	6.0	4.16	0.48862	.	0.302356	0.28712	N	0.014391	T	0.63920	0.2552	L	0.57536	1.79	0.24110	N	0.995848	B;B;B	0.32188	0.055;0.204;0.359	B;B;B	0.33620	0.036;0.124;0.167	T	0.50558	-0.8814	10	0.17369	T	0.5	.	10.6544	0.45667	0.1491:0.0:0.8509:0.0	.	144;113;144	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	S	113;113;144;144	ENSP00000334476:A113S;ENSP00000417328:A144S;ENSP00000417980:A144S	ENSP00000334476:A113S	A	+	1	0	EHMT1	139731243	1.000000	0.71417	0.069000	0.20011	0.968000	0.65278	2.939000	0.48995	0.872000	0.35775	0.639000	0.83563	GCC	-	NULL		0.597	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	protein_coding	OTTHUMT00000055371.2	G	NM_024757	-		140611422	+1	no_errors	ENST00000460843	ensembl	human	known	74_37	missense	SNP	0.935	T
CEMIP	57214	genome.wustl.edu	37	15	81234301	81234301	+	Silent	SNP	C	C	T	rs145572198		TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr15:81234301C>T	ENST00000394685.3	+	26	3938	c.3519C>T	c.(3517-3519)ggC>ggT	p.G1173G	KIAA1199_ENST00000220244.3_Silent_p.G1173G|KIAA1199_ENST00000356249.5_Silent_p.G1173G|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	CEMIP_HUMAN		1173					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						AGAACGCAGGCGTCAGTGACT	0.507																																																	0								ENSG00000103888	C		1,4405	4.2+/-10.8	0,1,2202	60.0	58.0	59.0		3519	0.4	0.0	15	dbSNP_134	59	0,8600		0,0,4300	no	coding-synonymous	KIAA1199	NM_018689.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1173/1362	81234301	1,13005	2203	4300	6503	KIAA1199	SO:0001819	synonymous_variant	0			-	HGNC																												ENST00000394685.3:c.3519C>T	15.37:g.81234301C>T		Somatic	0	43	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	11	21.43	Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence	p.G1173	ENST00000394685.3	37	c.3519	CCDS10315.1	15																																																																																			-	NULL		0.507	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1199	protein_coding	OTTHUMT00000291389.1	C		rs145572198		81234301	+1	no_errors	ENST00000220244	ensembl	human	known	74_37	silent	SNP	0.000	T
WDR26	80232	genome.wustl.edu	37	1	224581559	224581559	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr1:224581559G>T	ENST00000414423.2	-	13	2124	c.1931C>A	c.(1930-1932)gCa>gAa	p.A644E	WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000295024.6_Missense_Mutation_p.A497E	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	644						cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		TATAAAAGGTGCTGGTCCCCA	0.423																																																	0								ENSG00000162923						125.0	117.0	120.0					1																	224581559		2203	4300	6503	WDR26	SO:0001583	missense	0			-	HGNC	AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"""WD repeat domain containing"""	21208	protein-coding gene	gene with protein product	"""GID complex subunit 7 homolog (S. cerevisiae)"""						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.1931C>A	1.37:g.224581559G>T	ENSP00000408108:p.Ala644Glu	Somatic	0	69	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A644E	ENST00000414423.2	37	c.1931	CCDS31037.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.1|25.1	4.606316|4.606316	0.87157|0.87157	.|.	.|.	ENSG00000162923|ENSG00000162923	ENST00000414423;ENST00000295024|ENST00000480676	T;T|.	0.68331|.	-0.32;-0.04|.	5.99|5.99	5.99|5.99	0.97316|0.97316	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59046|0.59046	0.2165|0.2165	L|L	0.27975|0.27975	0.815|0.815	0.80722|0.80722	D|D	1|1	P|.	0.39737|.	0.685|.	B|.	0.39152|.	0.292|.	T|T	0.50268|0.50268	-0.8848|-0.8848	10|5	0.02654|.	T|.	1|.	.|.	20.4777|20.4777	0.99188|0.99188	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	628|.	Q9H7D7-2|.	.|.	E|R	644;497|277	ENSP00000408108:A644E;ENSP00000295024:A497E|.	ENSP00000295024:A497E|.	A|S	-|-	2|3	0|2	WDR26|WDR26	222648182|222648182	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.832000|9.832000	0.99423|0.99423	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GCA|AGC	-	NULL		0.423	WDR26-001	KNOWN	basic|CCDS	protein_coding	WDR26	protein_coding	OTTHUMT00000091760.2	G	NM_025160	-		224581559	-1	no_errors	ENST00000414423	ensembl	human	known	74_37	missense	SNP	1.000	T
GANAB	23193	genome.wustl.edu	37	11	62400998	62400998	+	Intron	SNP	G	G	T			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr11:62400998G>T	ENST00000356638.3	-	6	577				GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000540933.1_Intron|GANAB_ENST00000346178.4_Intron|GANAB_ENST00000534779.1_Intron	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB						cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	TGGAAGGTAGGAGAGCTGTCT	0.607																																					Melanoma(23;1005 1074 15747 18937)												0								ENSG00000089597						70.0	66.0	68.0					11																	62400998		2202	4299	6501	GANAB	SO:0001627	intron_variant	0			-	HGNC	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.561-12C>A	11.37:g.62400998G>T		Somatic	0	58	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	16	20.00	A6NC20|Q8WTS9|Q9P0X0	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000356638.3	37	NULL	CCDS8026.1	11																																																																																			-	-		0.607	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GANAB	protein_coding	OTTHUMT00000395689.1	G	NM_198334	-		62400998	-1	no_errors	ENST00000534422	ensembl	human	known	74_37	rna	SNP	1.000	T
C4orf50	389197	genome.wustl.edu	37	4	5961217	5961217	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr4:5961217G>T	ENST00000324058.5	-	7	805	c.716C>A	c.(715-717)cCa>cAa	p.P239Q	C4orf50_ENST00000531445.1_Missense_Mutation_p.P713Q			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	239										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						AGAGGGTGCTGGGACGTTATC	0.562																																																	0								ENSG00000181215						118.0	110.0	113.0					4																	5961217		2203	4300	6503	C4orf50	SO:0001583	missense	0			-	HGNC	BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.716C>A	4.37:g.5961217G>T	ENSP00000317287:p.Pro239Gln	Somatic	0	118	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.P713Q	ENST00000324058.5	37	c.2138		4	.	.	.	.	.	.	.	.	.	.	G	6.200	0.405036	0.11754	.	.	ENSG00000181215	ENST00000531445;ENST00000324058	T;T	0.23754	1.89;1.89	3.31	1.49	0.22878	.	0.384283	0.19057	N	0.123871	T	0.25269	0.0614	L	0.33485	1.01	0.09310	N	1	D	0.61697	0.99	P	0.58266	0.836	T	0.13629	-1.0502	10	0.15499	T	0.54	-4.9036	5.0234	0.14372	0.3025:0.0:0.6975:0.0	.	239	Q6ZRC1	CD050_HUMAN	Q	713;239	ENSP00000437121:P713Q;ENSP00000317287:P239Q	ENSP00000317287:P239Q	P	-	2	0	C4orf50	6012118	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.475000	0.06599	0.121000	0.18284	0.655000	0.94253	CCA	-	NULL		0.562	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	C4orf50	protein_coding		G	NM_207405	-		5961217	-1	no_errors	ENST00000531445	ensembl	human	known	74_37	missense	SNP	0.001	T
HIST1H2BI	8346	genome.wustl.edu	37	6	26273228	26273228	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr6:26273228C>A	ENST00000377733.2	+	1	85	c.25C>A	c.(25-27)Ccc>Acc	p.P9T	HIST1H3G_ENST00000305910.3_5'Flank	NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	9					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						TAAGTCAGCTCCCGCCCCGAA	0.552																																																	0								ENSG00000168242						110.0	110.0	110.0					6																	26273228		2203	4300	6503	HIST1H2BI	SO:0001583	missense	0			-	HGNC	Z80782	CCDS4603.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000168242	ENSG00000278588		"""Histones / Replication-dependent"""	4756	protein-coding gene	gene with protein product		602807	"""H2B histone family, member K"", ""histone 1, H2bi"""	H2BFK		9119399, 12408966	Standard	NM_003525		Approved	H2B/k	uc003nhk.3	P62807	OTTHUMG00000014448	ENST00000377733.2:c.25C>A	6.37:g.26273228C>A	ENSP00000366962:p.Pro9Thr	Somatic	0	84	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.P9T	ENST00000377733.2	37	c.25	CCDS4603.1	6	.	.	.	.	.	.	.	.	.	.	.	10.55	1.380613	0.24944	.	.	ENSG00000168242	ENST00000377733	T	0.22539	1.95	4.89	4.02	0.46733	.	.	.	.	.	T	0.21022	0.0506	M	0.66939	2.045	0.32600	N	0.526063	.	.	.	.	.	.	T	0.03325	-1.1048	7	0.51188	T	0.08	.	12.1813	0.54214	0.0:0.9156:0.0:0.0843	.	.	.	.	T	9	ENSP00000366962:P9T	ENSP00000366962:P9T	P	+	1	0	HIST1H2BI	26381207	0.778000	0.28640	0.020000	0.16555	0.004000	0.04260	1.473000	0.35387	1.060000	0.40578	0.563000	0.77884	CCC	-	superfamily_Histone-fold		0.552	HIST1H2BI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BI	protein_coding	OTTHUMT00000040111.1	C	NM_003525	-		26273228	+1	no_errors	ENST00000377733	ensembl	human	known	74_37	missense	SNP	0.964	A
DNAH8	1769	genome.wustl.edu	37	6	38831733	38831733	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr6:38831733delT	ENST00000359357.3	+	43	5998	c.5744delT	c.(5743-5745)attfs	p.I1915fs	DNAH8_ENST00000441566.1_Frame_Shift_Del_p.I1915fs|DNAH8_ENST00000449981.2_Frame_Shift_Del_p.I2132fs			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1915	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCACAACAAATTTATATTGTT	0.363																																																	0								ENSG00000124721						81.0	81.0	81.0					6																	38831733		2203	4300	6503	DNAH8	SO:0001589	frameshift_variant	0				HGNC	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.5744delT	6.37:g.38831733delT	ENSP00000352312:p.Ile1915fs	Somatic	0	86	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	14	12.50	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.Y1916fs	ENST00000359357.3	37	c.5744		6																																																																																			-	superfamily_P-loop_NTPase,smart_AAA+_ATPase		0.363	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	protein_coding	OTTHUMT00000043574.1	T	NM_001206927			38831733	+1	no_errors	ENST00000359357	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-
FAM69B	138311	genome.wustl.edu	37	9	139617549	139617551	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	CTG	CTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr9:139617549_139617551delCTG	ENST00000371692.4	+	5	715_717	c.619_621delCTG	c.(619-621)ctgdel	p.L210del	SNHG7_ENST00000414282.1_RNA|FAM69B_ENST00000371691.1_In_Frame_Del_p.L123del|SNHG7_ENST00000416970.1_RNA|SNHG7_ENST00000447221.1_RNA|SNHG7_ENST00000436596.1_RNA	NM_152421.3	NP_689634.2	Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	210						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		TAACGAGTTCCTGCTGCTGCTGT	0.65																																																	0								ENSG00000165716																																			FAM69B	SO:0001651	inframe_deletion	0				HGNC		CCDS7004.1	9q34.3	2012-08-03			ENSG00000165716	ENSG00000165716			28290	protein-coding gene	gene with protein product		614543				21334309	Standard	NM_152421		Approved	MGC20262, C9orf136	uc004cik.3	Q5VUD6	OTTHUMG00000020940	ENST00000371692.4:c.619_621delCTG	9.37:g.139617558_139617560delCTG	ENSP00000360757:p.Leu210del	Somatic	0	35	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	11	15.38	Q5VUD7|Q8N5N0|Q8WYU5	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_FAM69_kinase_dom	p.L210in_frame_del	ENST00000371692.4	37	c.619_621	CCDS7004.1	9																																																																																			-	pfam_FAM69_kinase_dom		0.650	FAM69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM69B	protein_coding	OTTHUMT00000055102.1	CTG	NM_152421			139617551	+1	no_errors	ENST00000371692	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:0.947	-
UTS2	10911	genome.wustl.edu	37	1	7910965	7910965	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr1:7910965G>T	ENST00000361696.5	-	2	152	c.121C>A	c.(121-123)Cgc>Agc	p.R41S	UTS2_ENST00000054668.5_Missense_Mutation_p.R56S|UTS2_ENST00000377516.2_Missense_Mutation_p.R41S	NM_006786.3	NP_006777.1	O95399	UTS2_HUMAN	urotensin 2	41					muscle contraction (GO:0006936)|negative regulation of blood pressure (GO:0045776)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell differentiation (GO:0045597)|positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of heart rate (GO:0010460)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to testosterone (GO:0033574)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			kidney(1)|lung(4)|urinary_tract(1)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)		GGAGTTAAGCGCGCGTCTTCA	0.458																																																	0								ENSG00000049247						93.0	92.0	92.0					1																	7910965		2203	4300	6503	UTS2	SO:0001583	missense	0			-	HGNC	AF104118	CCDS90.1, CCDS91.1	1p36	2013-02-28			ENSG00000049247	ENSG00000049247		"""Endogenous ligands"""	12636	protein-coding gene	gene with protein product	"""prepro U-II"""	604097				9861051, 10499587	Standard	NM_021995		Approved	UII, U-II, UCN2, PRO1068	uc001aos.3	O95399	OTTHUMG00000001218	ENST00000361696.5:c.121C>A	1.37:g.7910965G>T	ENSP00000355163:p.Arg41Ser	Somatic	0	74	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	27	10.00	Q5H8X7|Q6UXF6|Q9UKP7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Urotensin_II	p.R56S	ENST00000361696.5	37	c.166	CCDS91.1	1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.731153	0.30684	.	.	ENSG00000049247	ENST00000377516;ENST00000400910;ENST00000361696;ENST00000054668	T;T;T	0.37058	1.22;1.32;1.29	5.5	-3.66	0.04489	.	0.776441	0.12281	N	0.482892	T	0.24044	0.0582	L	0.47716	1.5	0.09310	N	1	P;B;P	0.35272	0.493;0.135;0.493	B;B;B	0.31290	0.127;0.06;0.127	T	0.08638	-1.0712	10	0.42905	T	0.14	-0.369	7.0805	0.25229	0.0:0.2115:0.4513:0.3372	.	56;41;41	O95399-2;O95399;Q5H8X8	.;UTS2_HUMAN;.	S	41;41;41;56	ENSP00000366738:R41S;ENSP00000355163:R41S;ENSP00000054668:R56S	ENSP00000054668:R56S	R	-	1	0	UTS2	7833552	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.029000	0.12329	-0.849000	0.04158	-0.271000	0.10264	CGC	-	NULL		0.458	UTS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UTS2	protein_coding	OTTHUMT00000003612.1	G	NM_006786	-		7910965	-1	no_errors	ENST00000054668	ensembl	human	known	74_37	missense	SNP	0.000	T
SETMAR	6419	genome.wustl.edu	37	3	4345737	4345737	+	Intron	DEL	T	T	-			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr3:4345737delT	ENST00000358065.4	+	1	223				SETMAR_ENST00000425863.1_Intron|SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000462115.1_3'UTR|SETMAR_ENST00000430981.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene						DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		tccggagtgctttgaaaatgg	0.458								Chromatin Structure																																									0								ENSG00000170364																																			SETMAR	SO:0001627	intron_variant	0				HGNC	U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.156+527T>-	3.37:g.4345737delT		Somatic	0	48	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	10	16.67	B4DY74|E7EN68|Q13579|Q1G668|Q96F41	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000358065.4	37	NULL	CCDS2563.2	3																																																																																			-	-		0.458	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETMAR	protein_coding	OTTHUMT00000206587.4	T	NM_006515			4345737	+1	no_errors	ENST00000462115	ensembl	human	putative	74_37	rna	DEL	0.061	-
HPN	3249	genome.wustl.edu	37	19	35551321	35551321	+	Silent	SNP	G	G	A	rs35890010	byFrequency	TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr19:35551321G>A	ENST00000262626.2	+	8	1350	c.525G>A	c.(523-525)ccG>ccA	p.P175P	HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000392226.1_Silent_p.P175P|HPN_ENST00000597419.1_Intron	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	175	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GCCGGTGGCCGTGGCAAGTCA	0.687																																																	0								ENSG00000105707	G	,	3,4403	6.2+/-15.9	0,3,2200	62.0	71.0	68.0		525,525	-9.5	0.1	19	dbSNP_126	68	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	HPN	NM_002151.2,NM_182983.2	,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,	175/418,175/418	35551321	3,13003	2203	4300	6503	HPN	SO:0001819	synonymous_variant	0			-	HGNC		CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"""Serine peptidases / Transmembrane"""	5155	protein-coding gene	gene with protein product	"""transmembrane protease, serine 1"""	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.525G>A	19.37:g.35551321G>A		Somatic	0	93	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	23	37.84	B2RDS4	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_S1,pfam_Hepsin-SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.P175	ENST00000262626.2	37	c.525	CCDS32993.1	19																																																																																			-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.687	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HPN	protein_coding	OTTHUMT00000461573.1	G	NM_002151	rs35890010		35551321	+1	no_errors	ENST00000262626	ensembl	human	known	74_37	silent	SNP	0.003	A
SYT3	84258	genome.wustl.edu	37	19	51140536	51140536	+	Silent	SNP	G	G	T			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr19:51140536G>T	ENST00000338916.4	-	1	766	c.133C>A	c.(133-135)Cgg>Agg	p.R45R	SYT3_ENST00000600079.1_Silent_p.R45R|SYT3_ENST00000544769.1_Silent_p.R45R|SYT3_ENST00000593901.1_Silent_p.R45R	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	45					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TCTGGACCCCGGGGATAGCCT	0.622																																																	0								ENSG00000213023						73.0	71.0	72.0					19																	51140536		2203	4300	6503	SYT3	SO:0001819	synonymous_variant	0			-	HGNC	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.133C>A	19.37:g.51140536G>T		Somatic	0	128	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	20	23.08	Q8N5Z1|Q8N640	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom	p.R45	ENST00000338916.4	37	c.133	CCDS12798.1	19																																																																																			-	NULL		0.622	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SYT3	protein_coding	OTTHUMT00000464910.1	G	NM_032298	-		51140536	-1	no_errors	ENST00000338916	ensembl	human	known	74_37	silent	SNP	1.000	T
C2orf61	285051	genome.wustl.edu	37	2	47357396	47357397	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	GT	GT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr2:47357396_47357397delGT	ENST00000445927.2	-	4	528_529	c.402_403delAC	c.(400-405)tcacttfs	p.L135fs	RP11-761B3.1_ENST00000422269.1_3'UTR|C2orf61_ENST00000294947.2_Frame_Shift_Del_p.L135fs	NM_001163561.1	NP_001157033.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	135										endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GAAAGCTGAAGTGACTGCACAG	0.376																																																	0								ENSG00000239605																																			C2orf61	SO:0001589	frameshift_variant	0				HGNC	AK097491	CCDS1831.1, CCDS54356.1	2p21	2008-02-05			ENSG00000239605	ENSG00000239605			26850	protein-coding gene	gene with protein product							Standard	NM_173649		Approved	FLJ40172	uc010yog.2	Q8N801	OTTHUMG00000128851	ENST00000445927.2:c.402_403delAC	2.37:g.47357396_47357397delGT	ENSP00000408527:p.Leu135fs	Somatic	0	62	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	19	9.52	H7C2Z2	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	NULL	p.L135fs	ENST00000445927.2	37	c.403_402	CCDS54356.1	2																																																																																			-	NULL		0.376	C2orf61-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf61	protein_coding		GT	NM_173649			47357397	-1	no_errors	ENST00000445927	ensembl	human	known	74_37	frame_shift_del	DEL	0.001:0.001	-
LOC101060385	101060385	genome.wustl.edu	37	2	895978	895979	+	lincRNA	INS	-	-	TGTACA	rs11282408|rs33974898|rs5828792		TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr2:895978_895979insTGTACA	ENST00000445279.1	-	0	616_617																											aaatttgctagtacaccccaga	0.411																																																	0								ENSG00000228799																																			AC113607.2			0				Clone_based_vega_gene																													2.37:g.895978_895979insTGTACA		Somatic	NA	NA	NA		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000445279.1	37	NULL		2																																																																																			-	-		0.411	AC113607.2-001	KNOWN	basic	lincRNA	LOC101060385	lincRNA	OTTHUMT00000322405.1	-				895979	-1	no_errors	ENST00000445279	ensembl	human	known	74_37	rna	INS	0.020:0.017	TGTACA
TP53	7157	genome.wustl.edu	37	17	7578290	7578290	+	Splice_Site	SNP	C	C	G			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr17:7578290C>G	ENST00000269305.4	-	6	749		c.e6-1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|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)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(40)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGGGCCAGACCTAAGAGCAAT	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	54	Unknown(40)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	upper_aerodigestive_tract(11)|lung(9)|large_intestine(6)|central_nervous_system(5)|ovary(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|liver(3)|oesophagus(2)|breast(2)|stomach(1)|genital_tract(1)|eye(1)	GRCh37	CD043957|CS011574|CS083991	TP53	D|S		ENSG00000141510						82.0	74.0	76.0					17																	7578290		2203	4300	6503	TP53	SO:0001630	splice_region_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	-	HGNC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.560-1G>C	17.37:g.7578290C>G		Somatic	0	84	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	11	66.67	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e5-1	ENST00000269305.4	37	c.560-1	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	8.588	0.883886	0.17467	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.89	0.79291	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519015	1.000000	0.71417	0.995000	0.50966	0.031000	0.12232	3.449000	0.52950	2.539000	0.85634	0.655000	0.94253	.	-	-		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	-	Intron	7578290	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site	SNP	1.000	G
SIK2	23235	genome.wustl.edu	37	11	111591379	111591379	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr11:111591379delC	ENST00000304987.3	+	11	1846	c.1673delC	c.(1672-1674)accfs	p.T558fs	SIK2_ENST00000533868.1_3'UTR	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	558					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						CTGAGACCTACCAACCCAGCC	0.542																																																	0								ENSG00000170145						115.0	112.0	113.0					11																	111591379		2201	4297	6498	SIK2	SO:0001589	frameshift_variant	0				HGNC	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.1673delC	11.37:g.111591379delC	ENSP00000305976:p.Thr558fs	Somatic	0	93	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	18	10.00	A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.N559fs	ENST00000304987.3	37	c.1673	CCDS8347.1	11																																																																																			-	pirsf_Ser/Thr_kinase_SIK1/2		0.542	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK2	protein_coding	OTTHUMT00000319352.3	C	NM_015191			111591379	+1	no_errors	ENST00000304987	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-
UTP14A	10813	genome.wustl.edu	37	X	129055621	129055622	+	Intron	INS	-	-	A	rs3841681|rs397841716		TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chrX:129055621_129055622insA	ENST00000394422.3	+	11	1376				UTP14A_ENST00000371042.3_Intron|UTP14A_ENST00000498179.1_3'UTR|UTP14A_ENST00000371051.5_Intron|UTP14A_ENST00000425117.2_Intron|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)						rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						GACTATGGGAGAAAAAAAAAAT	0.465																																																	0								ENSG00000156697																																			UTP14A	SO:0001627	intron_variant	0				HGNC	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.1348+58->A	X.37:g.129055631_129055631dupA		Somatic	0	38	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000394422.3	37	NULL	CCDS14615.1	X																																																																																			-	-		0.465	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UTP14A	protein_coding	OTTHUMT00000058221.1	-	NM_006649			129055622	+1	no_errors	ENST00000498179	ensembl	human	known	74_37	rna	INS	0.001:0.001	A
TRPM6	140803	genome.wustl.edu	37	9	77436669	77436669	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr9:77436669T>A	ENST00000360774.1	-	8	1163	c.926A>T	c.(925-927)gAc>gTc	p.D309V	TRPM6_ENST00000361255.3_Missense_Mutation_p.D304V|TRPM6_ENST00000451710.3_Missense_Mutation_p.D309V|TRPM6_ENST00000376871.3_Missense_Mutation_p.D309V|TRPM6_ENST00000376864.4_Missense_Mutation_p.D309V|TRPM6_ENST00000376872.3_Missense_Mutation_p.D309V|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000449912.2_Missense_Mutation_p.D304V	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	309					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGGGTCCTTGTCCTTGACAGT	0.592																																																	0								ENSG00000119121						154.0	109.0	124.0					9																	77436669		2203	4300	6503	TRPM6	SO:0001583	missense	0			-	HGNC	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.926A>T	9.37:g.77436669T>A	ENSP00000354006:p.Asp309Val	Somatic	0	110	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	44	12.00	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.D309V	ENST00000360774.1	37	c.926	CCDS6647.1	9	.	.	.	.	.	.	.	.	.	.	T	15.68	2.905653	0.52333	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376864	T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26	5.47	5.47	0.80525	.	0.344486	0.36200	N	0.002735	T	0.32704	0.0838	L	0.60845	1.875	0.39819	D	0.972806	B;P;B;B	0.34724	0.279;0.465;0.167;0.145	B;B;B;B	0.33521	0.124;0.165;0.104;0.043	T	0.35325	-0.9793	10	0.66056	D	0.02	.	7.0396	0.25013	0.0:0.0779:0.162:0.76	.	309;309;309;304	Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3	.;.;TRPM6_HUMAN;.	V	309;309;309;309;304;304;309	ENSP00000354006:D309V;ENSP00000407341:D309V;ENSP00000366068:D309V;ENSP00000366067:D309V;ENSP00000396672:D304V;ENSP00000354962:D304V;ENSP00000366060:D309V	ENSP00000354006:D309V	D	-	2	0	TRPM6	76626489	0.023000	0.18921	0.771000	0.31576	0.949000	0.60115	1.827000	0.39102	2.075000	0.62263	0.459000	0.35465	GAC	-	NULL		0.592	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	protein_coding	OTTHUMT00000052693.1	T	NM_017662	-		77436669	-1	no_errors	ENST00000451710	ensembl	human	known	74_37	missense	SNP	0.883	A
PFKP	5214	genome.wustl.edu	37	10	3146003	3146003	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr10:3146003G>A	ENST00000381125.4	+	5	563	c.487G>A	c.(487-489)Gcc>Acc	p.A163T	PFKP_ENST00000421751.1_3'UTR|PFKP_ENST00000381075.2_Missense_Mutation_p.A155T	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	163	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GCAGAAGTACGCCTACCTCAA	0.622																																																	0								ENSG00000067057						110.0	83.0	92.0					10																	3146003		2203	4300	6503	PFKP	SO:0001583	missense	0			-	HGNC	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.487G>A	10.37:g.3146003G>A	ENSP00000370517:p.Ala163Thr	Somatic	0	68	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.A163T	ENST00000381125.4	37	c.487	CCDS7059.1	10	.	.	.	.	.	.	.	.	.	.	G	13.92	2.379974	0.42207	.	.	ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000421751;ENST00000407806	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	4.32	-5.82	0.02333	Phosphofructokinase domain (2);	0.586313	0.18854	N	0.129313	T	0.65647	0.2711	L	0.50333	1.59	0.09310	N	1	B;P	0.39696	0.249;0.683	B;B	0.36567	0.046;0.228	T	0.60647	-0.7222	10	0.24483	T	0.36	.	7.7948	0.29141	0.1266:0.0:0.3491:0.5243	.	155;163	Q5VSR7;Q01813	.;K6PP_HUMAN	T	163;152;155;125;125	ENSP00000370517:A163T;ENSP00000370465:A155T;ENSP00000410590:A125T;ENSP00000385880:A125T	ENSP00000370465:A155T	A	+	1	0	PFKP	3136003	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.535000	0.23114	-0.959000	0.03618	-0.806000	0.03193	GCC	-	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk		0.622	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKP	protein_coding	OTTHUMT00000046454.1	G	NM_002627	-		3146003	+1	no_errors	ENST00000381125	ensembl	human	known	74_37	missense	SNP	0.000	A
DUOX2	50506	genome.wustl.edu	37	15	45400250	45400250	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr15:45400250C>G	ENST00000603300.1	-	13	1771	c.1569G>C	c.(1567-1569)agG>agC	p.R523S	DUOX2_ENST00000389039.6_Missense_Mutation_p.R523S	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	523	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTTACCCATTCCTGGTGTTCT	0.597																																																	0								ENSG00000140279						75.0	78.0	77.0					15																	45400250		2198	4298	6496	DUOX2	SO:0001583	missense	0			-	HGNC	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.1569G>C	15.37:g.45400250C>G	ENSP00000475084:p.Arg523Ser	Somatic	0	216	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	105	8.70	A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin	p.R523S	ENST00000603300.1	37	c.1569	CCDS10117.1	15	.	.	.	.	.	.	.	.	.	.	C	13.20	2.166685	0.38217	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.46	-0.274	0.12910	.	0.314447	0.38548	N	0.001642	T	0.41926	0.1180	M	0.62723	1.935	0.24048	N	0.996057	B;B	0.33345	0.048;0.409	B;B	0.36030	0.158;0.216	T	0.34304	-0.9834	9	0.25751	T	0.34	-11.6541	11.1514	0.48462	0.0:0.5097:0.0:0.4903	.	523;85	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	S	523	.	ENSP00000373691:R523S	R	-	3	2	DUOX2	43187542	0.001000	0.12720	0.940000	0.37924	0.859000	0.49053	-0.513000	0.06305	0.044000	0.15775	-0.128000	0.14901	AGG	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.597	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DUOX2	protein_coding		C	NM_014080	-		45400250	-1	no_errors	ENST00000389039	ensembl	human	known	74_37	missense	SNP	0.011	G
SETD1B	23067	genome.wustl.edu	37	12	122257459	122257461	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	GAG	GAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr12:122257459_122257461delGAG	ENST00000604567.1	+	11	3636_3638	c.3568_3570delGAG	c.(3568-3570)gagdel	p.E1194del	SETD1B_ENST00000542440.1_In_Frame_Del_p.E1151del|SETD1B_ENST00000267197.5_In_Frame_Del_p.E1151del			Q9UPS6	SET1B_HUMAN	SET domain containing 1B	1194	Glu-rich.|Pro-rich.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|endometrium(6)|kidney(2)|prostate(2)	11						ggaggaagaagaggaggaggagg	0.616																																																	0								ENSG00000139718																																			SETD1B	SO:0001651	inframe_deletion	0				HGNC	AB028999	CCDS53838.1	12q24.31	2013-02-12			ENSG00000139718	ENSG00000139718		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29187	protein-coding gene	gene with protein product		611055				10470851, 17355966	Standard	NM_015048		Approved	KIAA1076, Set1B, KMT2G	uc001ubi.3	Q9UPS6	OTTHUMG00000169080	ENST00000604567.1:c.3568_3570delGAG	12.37:g.122257468_122257470delGAG	ENSP00000474253:p.Glu1194del	Somatic	0	111	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	19	9.52	F6MFW1	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom	p.E1150in_frame_del	ENST00000604567.1	37	c.3439_3441		12																																																																																			-	NULL		0.616	SETD1B-002	PUTATIVE	non_canonical_U12|basic|appris_candidate_longest	protein_coding	SETD1B	protein_coding	OTTHUMT00000468264.1	GAG	XM_037523			122257461	+1	no_errors	ENST00000267197	ensembl	human	known	74_37	in_frame_del	DEL	0.698:0.600:0.192	-
AMY2B	280	genome.wustl.edu	37	1	104118399	104118399	+	Intron	DEL	A	A	-			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr1:104118399delA	ENST00000361355.4	+	9	1717				AMY2B_ENST00000491397.1_Intron	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)						carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		AGCCCACAGGAAAAAAAAAAA	0.323																																																	0								ENSG00000240038																																			AMY2B	SO:0001627	intron_variant	0				HGNC	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.1101+237A>-	1.37:g.104118399delA		Somatic	0	12	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	B3KTI1|B3KXB7|D3DT76|Q9UBH3	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000361355.4	37	NULL	CCDS782.1	1																																																																																			-	-		0.323	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2B	protein_coding	OTTHUMT00000030318.1	A	NM_020978			104118399	+1	no_errors	ENST00000462971	ensembl	human	known	74_37	rna	DEL	0.005	-
SCN2A	6326	genome.wustl.edu	37	2	166246020	166246020	+	Missense_Mutation	SNP	C	C	T	rs367833365		TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr2:166246020C>T	ENST00000375437.2	+	27	5994	c.5704C>T	c.(5704-5706)Cgc>Tgc	p.R1902C	SCN2A_ENST00000357398.3_Missense_Mutation_p.R1902C|SCN2A_ENST00000283256.6_Missense_Mutation_p.R1902C|SCN2A_ENST00000375427.2_Missense_Mutation_p.R1902C	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1902			R -> T (associated with autism). {ECO:0000269|PubMed:12610651}.		intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CACGTTGAAACGCAAACAAGA	0.433																																																	0			GRCh37	CM034570	SCN2A	M		ENSG00000136531	C	CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	87.0	81.0	83.0		5704,5704,5704	5.9	1.0	2		83	0,8600		0,0,4300	no	missense,missense,missense	SCN2A	NM_001040142.1,NM_001040143.1,NM_021007.2	180,180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	1902/2006,1902/2006,1902/2006	166246020	1,13005	2203	4300	6503	SCN2A	SO:0001583	missense	0			-	HGNC	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.5704C>T	2.37:g.166246020C>T	ENSP00000364586:p.Arg1902Cys	Somatic	0	55	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	21	25.00	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.R1902C	ENST00000375437.2	37	c.5704	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814541	0.50527	2.27E-4	0.0	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.96745	-4.11;-4.11;-4.11;-4.11	5.87	5.87	0.94306	.	0.113909	0.37261	N	0.002173	D	0.98362	0.9456	M	0.90922	3.16	0.58432	D	0.999999	D;D	0.89917	0.994;1.0	P;D	0.87578	0.865;0.998	D	0.98727	1.0711	10	0.66056	D	0.02	.	13.6126	0.62088	0.2709:0.7291:0.0:0.0	.	1902;1902	Q99250-2;Q99250	.;SCN2A_HUMAN	C	1902	ENSP00000364586:R1902C;ENSP00000349973:R1902C;ENSP00000283256:R1902C;ENSP00000364576:R1902C	ENSP00000283256:R1902C	R	+	1	0	SCN2A	165954266	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	2.510000	0.45468	2.785000	0.95823	0.585000	0.79938	CGC	-	NULL		0.433	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	protein_coding	OTTHUMT00000102659.2	C	NM_021007	-		166246020	+1	no_errors	ENST00000283256	ensembl	human	known	74_37	missense	SNP	1.000	T
DUOX2	50506	genome.wustl.edu	37	15	45394058	45394058	+	Silent	SNP	C	C	A			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr15:45394058C>A	ENST00000603300.1	-	21	2986	c.2784G>T	c.(2782-2784)ctG>ctT	p.L928L	DUOX2_ENST00000389039.6_Silent_p.L928L	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	928	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CATGGTCCCGCAGCATGAAGT	0.582																																																	0								ENSG00000140279						139.0	115.0	123.0					15																	45394058		2198	4298	6496	DUOX2	SO:0001819	synonymous_variant	0			-	HGNC	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.2784G>T	15.37:g.45394058C>A		Somatic	0	86	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	28	22.22	A8MQ13|D2XI64|Q9NR02|Q9UHF9	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin	p.L928	ENST00000603300.1	37	c.2784	CCDS10117.1	15																																																																																			-	NULL		0.582	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DUOX2	protein_coding		C	NM_014080	-		45394058	-1	no_errors	ENST00000389039	ensembl	human	known	74_37	silent	SNP	1.000	A
DDX17	10521	genome.wustl.edu	37	22	38894492	38894492	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr22:38894492G>A	ENST00000396821.3	-	4	724	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	DDX17_ENST00000381633.3_Missense_Mutation_p.R130W|DDX17_ENST00000432525.1_5'UTR	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	209	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					ACCATATCCCGGCCACTAAGA	0.438																																					Ovarian(55;1085 1454 6392 21425)												0								ENSG00000100201						123.0	105.0	111.0					22																	38894492		2203	4300	6503	DDX17	SO:0001583	missense	0			-	HGNC	U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"""DEAD-boxes"""	2740	protein-coding gene	gene with protein product		608469	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"""			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.625C>T	22.37:g.38894492G>A	ENSP00000380033:p.Arg209Trp	Somatic	0	80	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	13	23.53	B1AHM0|Q69YT1|Q6ICD6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.R209W	ENST00000396821.3	37	c.625	CCDS46706.1	22	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460804	0.84317	.	.	ENSG00000100201	ENST00000396821;ENST00000381633;ENST00000403230;ENST00000404499	T;T;T	0.16743	2.32;2.32;2.32	5.39	4.35	0.52113	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.096756	0.64402	D	0.000002	T	0.58395	0.2119	H	0.98089	4.145	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75484	0.959;0.986;0.976	T	0.76634	-0.2887	10	0.87932	D	0	-15.1574	15.286	0.73828	0.0:0.0:0.8546:0.1454	.	130;211;209	Q92841;Q59F66;Q92841-4	DDX17_HUMAN;.;.	W	209;130;209;211	ENSP00000380033:R209W;ENSP00000371046:R130W;ENSP00000385536:R209W	ENSP00000371046:R130W	R	-	1	2	DDX17	37224438	0.856000	0.29760	0.997000	0.53966	0.997000	0.91878	2.770000	0.47662	1.339000	0.45563	0.591000	0.81541	CGG	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.438	DDX17-001	KNOWN	basic|CCDS	protein_coding	DDX17	protein_coding	OTTHUMT00000321476.2	G	NM_030881	-		38894492	-1	no_errors	ENST00000396821	ensembl	human	known	74_37	missense	SNP	0.998	A
TMEM108	66000	genome.wustl.edu	37	3	133109090	133109090	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr3:133109090G>A	ENST00000321871.6	+	5	1727	c.1517G>A	c.(1516-1518)aGc>aAc	p.S506N	TMEM108_ENST00000508711.1_Missense_Mutation_p.S36N|TMEM108_ENST00000393130.3_Missense_Mutation_p.S506N	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	506						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AACAACCTGAGCTACTGGAAC	0.537																																																	0								ENSG00000144868						371.0	341.0	351.0					3																	133109090		2203	4300	6503	TMEM108	SO:0001583	missense	0			-	HGNC	AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.1517G>A	3.37:g.133109090G>A	ENSP00000324651:p.Ser506Asn	Somatic	0	63	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.S506N	ENST00000321871.6	37	c.1517	CCDS33858.1	3	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031718	0.75504	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000508711	T;T	0.65916	-0.18;-0.18	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000001	T	0.79155	0.4398	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	0.981;1.0	D;D	0.87578	0.916;0.998	T	0.82028	-0.0660	10	0.87932	D	0	-14.7924	18.219	0.89895	0.0:0.0:1.0:0.0	.	36;506	B3KT64;Q6UXF1	.;TM108_HUMAN	N	506;506;36	ENSP00000324651:S506N;ENSP00000376838:S506N	ENSP00000324651:S506N	S	+	2	0	TMEM108	134591780	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.404000	0.97306	2.288000	0.76882	0.655000	0.94253	AGC	-	NULL		0.537	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM108	protein_coding	OTTHUMT00000356907.2	G	NM_023943	-		133109090	+1	no_errors	ENST00000321871	ensembl	human	known	74_37	missense	SNP	1.000	A
MPDZ	8777	genome.wustl.edu	37	9	13205963	13205963	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr9:13205963C>T	ENST00000319217.7	-	11	1673	c.1426G>A	c.(1426-1428)Gtc>Atc	p.V476I	MPDZ_ENST00000536827.1_Missense_Mutation_p.V476I|MPDZ_ENST00000447879.1_Missense_Mutation_p.V476I|MPDZ_ENST00000381022.2_Missense_Mutation_p.V476I|MPDZ_ENST00000541718.1_Missense_Mutation_p.V476I|MPDZ_ENST00000381015.4_Missense_Mutation_p.V476I|MPDZ_ENST00000546205.1_Missense_Mutation_p.V476I	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	476					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)	p.V476I(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TCTTTTGTGACGTCTTCCCTT	0.418																																																	2	Substitution - Missense(2)	lung(2)						ENSG00000107186						204.0	190.0	195.0					9																	13205963		1924	4142	6066	MPDZ	SO:0001583	missense	0			-	HGNC	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.1426G>A	9.37:g.13205963C>T	ENSP00000320006:p.Val476Ile	Somatic	0	65	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	27	28.95	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.V476I	ENST00000319217.7	37	c.1426		9	.	.	.	.	.	.	.	.	.	.	C	10.95	1.496931	0.26861	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.10960	2.88;2.84;2.84;2.82;2.87;2.88;2.89	6.17	-3.11	0.05299	.	0.783752	0.10770	N	0.636105	T	0.05914	0.0154	N	0.24115	0.695	0.09310	N	1	B;B;B	0.11235	0.002;0.004;0.004	B;B;B	0.08055	0.001;0.002;0.003	T	0.43475	-0.9389	10	0.18710	T	0.47	.	7.6992	0.28613	0.0:0.4327:0.1051:0.4622	.	476;476;476	B7ZMI4;O75970-3;O75970-2	.;.;.	I	476	ENSP00000320006:V476I;ENSP00000439807:V476I;ENSP00000370410:V476I;ENSP00000444151:V476I;ENSP00000415208:V476I;ENSP00000370403:V476I;ENSP00000446358:V476I	ENSP00000320006:V476I	V	-	1	0	MPDZ	13195963	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.095000	0.01350	-1.007000	0.03408	-0.812000	0.03155	GTC	-	superfamily_PDZ		0.418	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	protein_coding	OTTHUMT00000055485.2	C	NM_003829	-		13205963	-1	no_errors	ENST00000319217	ensembl	human	known	74_37	missense	SNP	0.000	T
HSD17B12	51144	genome.wustl.edu	37	11	43876788	43876788	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr11:43876788A>T	ENST00000278353.4	+	11	1048	c.929A>T	c.(928-930)aAg>aTg	p.K310M	RP11-613D13.5_ENST00000530450.1_RNA	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	310					cellular lipid metabolic process (GO:0044255)|estrogen biosynthetic process (GO:0006703)|extracellular matrix organization (GO:0030198)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cell-substrate adhesion (GO:0010811)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|heparin binding (GO:0008201)			endometrium(2)|large_intestine(4)|lung(4)	10						AAGAAAACCAAGAAGAACTAA	0.413																																					Ovarian(58;548 1143 13948 16572 34258)												0								ENSG00000149084						107.0	105.0	106.0					11																	43876788		2203	4300	6503	HSD17B12	SO:0001583	missense	0			-	HGNC	AF078850	CCDS7905.1	11q11	2011-09-20				ENSG00000149084	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	18646	protein-coding gene	gene with protein product	"""3-ketoacyl-CoA reductase"", ""short chain dehydrogenase/reductase family 12C, member 1"""	609574				12482854, 19027726	Standard	NM_016142		Approved	KAR, SDR12C1	uc001mxq.4	Q53GQ0		ENST00000278353.4:c.929A>T	11.37:g.43876788A>T	ENSP00000278353:p.Lys310Met	Somatic	0	37	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	A8K9B0|D3DR23|Q96EA9|Q96JU2|Q9Y6G8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.K310M	ENST00000278353.4	37	c.929	CCDS7905.1	11	.	.	.	.	.	.	.	.	.	.	A	15.71	2.912855	0.52439	.	.	ENSG00000149084	ENST00000278353	T	0.79141	-1.24	5.63	5.63	0.86233	.	0.083871	0.85682	D	0.000000	T	0.77363	0.4119	M	0.81942	2.565	0.80722	D	1	P	0.44260	0.83	B	0.36244	0.22	T	0.81525	-0.0893	10	0.59425	D	0.04	-9.5006	14.6733	0.68961	1.0:0.0:0.0:0.0	.	310	Q53GQ0	DHB12_HUMAN	M	310	ENSP00000278353:K310M	ENSP00000278353:K310M	K	+	2	0	HSD17B12	43833364	1.000000	0.71417	0.994000	0.49952	0.578000	0.36192	6.746000	0.74866	2.137000	0.66172	0.482000	0.46254	AAG	-	NULL		0.413	HSD17B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B12	protein_coding	OTTHUMT00000389594.1	A		-		43876788	+1	no_errors	ENST00000278353	ensembl	human	known	74_37	missense	SNP	1.000	T
LINC00470	56651	genome.wustl.edu	37	18	1276028	1276028	+	lincRNA	SNP	T	T	C			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr18:1276028T>C	ENST00000412816.3	-	0	357							Q9BZP3	CR002_HUMAN	long intergenic non-protein coding RNA 470											pancreas(1)	1						tagaattgtctctTGCGTCAT	0.368																																																	0								ENSG00000132204																																			LINC00470			0			-	HGNC	AF295730		18p11.32	2012-10-12	2011-08-31	2011-08-31	ENSG00000132204	ENSG00000132204		"""Long non-coding RNAs"""	1225	non-coding RNA	RNA, long non-coding			"""chromosome 18 open reading frame 2"""	C18orf2		11173868	Standard	NR_023925		Approved		uc002klg.2	Q9BZP3			18.37:g.1276028T>C		Somatic	0	148	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	41	10.87	Q9BZP2|Q9BZP4	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000412816.3	37	NULL		18																																																																																			-	-		0.368	LINC00470-001	KNOWN	basic	lincRNA	LINC00470	lincRNA	OTTHUMT00000441551.1	T	NR_023925	-		1276028	-1	no_errors	ENST00000269201	ensembl	human	known	74_37	rna	SNP	0.057	C
KRT82	3888	genome.wustl.edu	37	12	52797693	52797693	+	Splice_Site	SNP	C	C	A			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr12:52797693C>A	ENST00000257974.2	-	2	489	c.412G>T	c.(412-414)Gtc>Ttc	p.V138F	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	138	Coil 1A.|Rod.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		AGGAAACGGACCTGCAGCCAA	0.542																																																	0								ENSG00000161850						30.0	27.0	28.0					12																	52797693		2203	4300	6503	KRT82	SO:0001630	splice_region_variant	0			-	HGNC	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.412-1G>T	12.37:g.52797693C>A		Somatic	0	43	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_IF,prints_Keratin_II,prints_Keratin_I	p.V138F	ENST00000257974.2	37	c.412	CCDS8826.1	12	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903610	0.72754	.	.	ENSG00000161850	ENST00000257974	D	0.95885	-3.84	5.14	5.14	0.70334	Filament (1);	0.000000	0.45361	D	0.000379	D	0.98701	0.9564	H	0.97732	4.065	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99624	1.0984	10	0.87932	D	0	.	18.9829	0.92761	0.0:1.0:0.0:0.0	.	138	Q9NSB4	KRT82_HUMAN	F	138	ENSP00000257974:V138F	ENSP00000257974:V138F	V	-	1	0	KRT82	51083960	1.000000	0.71417	0.996000	0.52242	0.342000	0.28953	7.557000	0.82243	2.569000	0.86673	0.462000	0.41574	GTC	-	pfam_IF		0.542	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT82	protein_coding	OTTHUMT00000405189.1	C	NM_033033	-	Missense_Mutation	52797693	-1	no_errors	ENST00000257974	ensembl	human	known	74_37	missense	SNP	1.000	A
NLRP1	22861	genome.wustl.edu	37	17	5436697	5436697	+	Silent	SNP	C	C	T			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr17:5436697C>T	ENST00000572272.1	-	10	3059	c.3060G>A	c.(3058-3060)gcG>gcA	p.A1020A	NLRP1_ENST00000354411.3_Silent_p.A990A|NLRP1_ENST00000262467.5_Silent_p.A1020A|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Silent_p.A1020A|NLRP1_ENST00000345221.3_Silent_p.A1020A|NLRP1_ENST00000577119.1_Silent_p.A990A			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1020					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				catgggaagccgccctctcta	0.527																																																	0								ENSG00000091592						61.0	55.0	57.0					17																	5436697		1327	2309	3636	NLRP1	SO:0001819	synonymous_variant	0			-	HGNC	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.3060G>A	17.37:g.5436697C>T		Somatic	0	16	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	4	60.00	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R	p.A1020	ENST00000572272.1	37	c.3060	CCDS42246.1	17																																																																																			-	NULL		0.527	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP1	protein_coding	OTTHUMT00000439517.1	C	NM_033004	-		5436697	-1	no_errors	ENST00000572272	ensembl	human	known	74_37	silent	SNP	0.001	T
RIMBP2	23504	genome.wustl.edu	37	12	130921759	130921759	+	Silent	SNP	G	G	A			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr12:130921759G>A	ENST00000261655.4	-	10	1846	c.1683C>T	c.(1681-1683)ggC>ggT	p.G561G	RIMBP2_ENST00000535703.1_Silent_p.G469G|RIMBP2_ENST00000536002.1_Silent_p.G469G	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	561	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCACGGTCACGCCCTTGGCCT	0.687																																																	0								ENSG00000060709						17.0	16.0	16.0					12																	130921759		2190	4288	6478	RIMBP2	SO:0001819	synonymous_variant	0			-	HGNC	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1683C>T	12.37:g.130921759G>A		Somatic	0	56	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	Q96ID2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.G561	ENST00000261655.4	37	c.1683	CCDS31925.1	12																																																																																			-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.687	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	protein_coding	OTTHUMT00000399520.1	G	NM_015347	-		130921759	-1	no_errors	ENST00000261655	ensembl	human	known	74_37	silent	SNP	0.038	A
DNM1P34	729809	genome.wustl.edu	37	15	75593138	75593138	+	RNA	DEL	A	A	-			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr15:75593138delA	ENST00000567292.1	-	0	1431							Q6PK57	DMP34_HUMAN	DNM1 pseudogene 34							microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										ATAGACTTATAAGTCTAAGGG	0.607																																																	0								ENSG00000260357																																			DNM1P34			0				HGNC	AJ576251		15q24.2	2013-04-25			ENSG00000260357	ENSG00000260357			35181	pseudogene	pseudogene				DNM1DN8@			Standard	NG_009143		Approved	DNM1DN8-1, DNM1DN8-5	uc002azx.1	Q6PK57	OTTHUMG00000172673		15.37:g.75593138delA		Somatic	0	37	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	6	25.00		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000567292.1	37	NULL		15																																																																																			-	-		0.607	DNM1P34-001	KNOWN	basic	processed_transcript	DNM1P34	pseudogene	OTTHUMT00000419799.1	A	NG_009143			75593138	-1	no_errors	ENST00000567292	ensembl	human	known	74_37	rna	DEL	1.000	-
SPTB	6710	genome.wustl.edu	37	14	65234023	65234023	+	Silent	SNP	A	A	T			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr14:65234023A>T	ENST00000389721.5	-	30	6299	c.6267T>A	c.(6265-6267)acT>acA	p.T2089T	SPTB_ENST00000556626.1_Silent_p.T2089T|SPTB_ENST00000389720.3_Intron|SPTB_ENST00000542895.1_Silent_p.T2089T|SPTB_ENST00000389722.3_Silent_p.T2089T	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	2089					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCACTCACCCAGTCTCCTCTG	0.567																																																	0								ENSG00000070182						178.0	176.0	177.0					14																	65234023		2203	4300	6503	SPTB	SO:0001819	synonymous_variant	0			-	HGNC		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.6267T>A	14.37:g.65234023A>T		Somatic	0	81	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	Q15510|Q15519	Silent	SNP	NA	NA	NA	NA	NA	NA	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.T2089	ENST00000389721.5	37	c.6267	CCDS32100.1	14																																																																																			-	pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin		0.567	SPTB-004	KNOWN	basic|CCDS	protein_coding	SPTB	protein_coding	OTTHUMT00000414080.1	A		-		65234023	-1	no_errors	ENST00000389722	ensembl	human	known	74_37	silent	SNP	0.838	T
NUP210L	91181	genome.wustl.edu	37	1	153995735	153995735	+	Silent	SNP	G	G	T			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr1:153995735G>T	ENST00000368559.3	-	31	4232	c.4161C>A	c.(4159-4161)ccC>ccA	p.P1387P	NUP210L_ENST00000271854.3_Silent_p.P1387P|NUP210L_ENST00000368553.1_Silent_p.P320P	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1387					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGTATAGCTTGGGTTGGCTGC	0.483																																																	0								ENSG00000143552						107.0	109.0	109.0					1																	153995735		1975	4158	6133	NUP210L	SO:0001819	synonymous_variant	0			-	HGNC	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.4161C>A	1.37:g.153995735G>T		Somatic	0	92	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2	p.P1387	ENST00000368559.3	37	c.4161	CCDS41399.1	1																																																																																			-	NULL		0.483	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP210L	protein_coding	OTTHUMT00000087270.3	G	NM_207308	-		153995735	-1	no_errors	ENST00000368559	ensembl	human	known	74_37	silent	SNP	0.991	T
NOL4	8715	genome.wustl.edu	37	18	31537461	31537461	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr18:31537461delT	ENST00000261592.5	-	8	1554	c.1257delA	c.(1255-1257)gtafs	p.V419fs	NOL4_ENST00000535384.1_Frame_Shift_Del_p.V134fs|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000535475.1_Intron|NOL4_ENST00000538587.1_Frame_Shift_Del_p.V345fs|NOL4_ENST00000589544.1_Intron	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	419						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						AGTTTTCATCTACAAACAGCC	0.478																																																	0								ENSG00000101746						73.0	61.0	65.0					18																	31537461		2203	4300	6503	NOL4	SO:0001589	frameshift_variant	0				HGNC	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1257delA	18.37:g.31537461delT	ENSP00000261592:p.Val419fs	Somatic	0	61	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	14	12.50	B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	NULL	p.D420fs	ENST00000261592.5	37	c.1257	CCDS11907.2	18																																																																																			-	NULL		0.478	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL4	protein_coding	OTTHUMT00000255386.1	T	NM_003787			31537461	-1	no_errors	ENST00000261592	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-
KIAA1429	25962	genome.wustl.edu	37	8	95556150	95556150	+	Silent	SNP	C	C	A			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr8:95556150C>A	ENST00000297591.5	-	2	159	c.84G>T	c.(82-84)gtG>gtT	p.V28V	KIAA1429_ENST00000421249.2_Silent_p.V28V|AC023632.1_ENST00000391679.1_5'Flank|KIAA1429_ENST00000437199.1_Silent_p.V28V	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	28					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GAAAACGAACCACATCTATAT	0.408																																																	0								ENSG00000164944						122.0	137.0	132.0					8																	95556150		2203	4300	6503	KIAA1429	SO:0001819	synonymous_variant	0			-	HGNC	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.84G>T	8.37:g.95556150C>A		Somatic	0	94	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	36	14.29	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Silent	SNP	NA	NA	NA	NA	NA	NA	superfamily_ARM-type_fold	p.V28	ENST00000297591.5	37	c.84	CCDS34923.1	8																																																																																			-	NULL		0.408	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1429	protein_coding	OTTHUMT00000378720.2	C	NM_015496	-		95556150	-1	no_errors	ENST00000297591	ensembl	human	known	74_37	silent	SNP	1.000	A
DOCK7	85440	genome.wustl.edu	37	1	63097073	63097073	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr1:63097073T>C	ENST00000340370.5	-	11	1137	c.1120A>G	c.(1120-1122)Aaa>Gaa	p.K374E	DOCK7_ENST00000251157.5_Missense_Mutation_p.K374E|DOCK7_ENST00000404627.2_Missense_Mutation_p.K374E	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	374					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AGTTTTTCTTTATTCTGCAAA	0.333																																																	0								ENSG00000116641						45.0	43.0	43.0					1																	63097073		2202	4300	6502	DOCK7	SO:0001583	missense	0			-	HGNC		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.1120A>G	1.37:g.63097073T>C	ENSP00000340742:p.Lys374Glu	Somatic	0	48	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	23	23.33	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.K374E	ENST00000340370.5	37	c.1120	CCDS30734.1	1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.548591	0.86127	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.40225	1.04;1.04;1.04	4.87	4.87	0.63330	.	0.047644	0.85682	D	0.000000	T	0.43233	0.1238	L	0.45698	1.435	0.80722	D	1	D;P;D;D;D	0.71674	0.985;0.875;0.997;0.998;0.991	P;P;D;D;D	0.85130	0.867;0.729;0.984;0.997;0.954	T	0.26608	-1.0098	10	0.15066	T	0.55	.	14.6312	0.68657	0.0:0.0:0.0:1.0	.	374;374;374;374;374	Q96NI0;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.;.	E	374	ENSP00000251157:K374E;ENSP00000340742:K374E;ENSP00000384446:K374E	ENSP00000251157:K374E	K	-	1	0	DOCK7	62869661	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.864000	0.87037	2.033000	0.60031	0.528000	0.53228	AAA	-	NULL		0.333	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	protein_coding	OTTHUMT00000036806.1	T	NM_033407	-		63097073	-1	no_errors	ENST00000251157	ensembl	human	known	74_37	missense	SNP	1.000	C
B4GALNT1	2583	genome.wustl.edu	37	12	58020582	58020582	+	Missense_Mutation	SNP	G	G	T	rs17454674	byFrequency	TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr12:58020582G>T	ENST00000341156.4	-	11	2131	c.1547C>A	c.(1546-1548)gCc>gAc	p.A516D	B4GALNT1_ENST00000418555.2_Missense_Mutation_p.A461D	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	516			A -> V (in dbSNP:rs17454674).		carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CCGGTGTTTGGCCATCTGGCT	0.587																																																	0								ENSG00000135454						181.0	148.0	159.0					12																	58020582		2203	4300	6503	B4GALNT1	SO:0001583	missense	0			-	HGNC	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.1547C>A	12.37:g.58020582G>T	ENSP00000341562:p.Ala516Asp	Somatic	0	83	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	B4DE26|Q8N636	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Glyco_trans_2,pirsf_GM2_synthase	p.A516D	ENST00000341156.4	37	c.1547	CCDS8950.1	12	.	.	.	.	.	.	.	.	.	.	.	13.68	2.308487	0.40895	.	.	ENSG00000135454	ENST00000341156;ENST00000418555	T;T	0.18502	2.21;2.22	4.6	4.6	0.57074	.	0.427984	0.23427	N	0.048297	T	0.20007	0.0481	L	0.29908	0.895	0.80722	D	1	D;P	0.65815	0.995;0.751	P;B	0.57911	0.829;0.128	T	0.00904	-1.1520	10	0.30078	T	0.28	-23.2201	7.0934	0.25297	0.1845:0.0:0.8154:0.0	.	461;516	B4DE26;Q00973	.;B4GN1_HUMAN	D	516;461	ENSP00000341562:A516D;ENSP00000401601:A461D	ENSP00000341562:A516D	A	-	2	0	B4GALNT1	56306849	0.994000	0.37717	1.000000	0.80357	0.986000	0.74619	1.774000	0.38573	2.577000	0.86979	0.467000	0.42956	GCC	-	pirsf_GM2_synthase		0.587	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT1	protein_coding	OTTHUMT00000407853.1	G	NM_001478	-		58020582	-1	no_errors	ENST00000341156	ensembl	human	known	74_37	missense	SNP	1.000	T
MPPED2	744	genome.wustl.edu	37	11	30557692	30557692	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr11:30557692delT	ENST00000358117.5	-	2	281	c.159delA	c.(157-159)aaafs	p.K53fs	MPPED2_ENST00000448418.2_Frame_Shift_Del_p.K53fs	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	53					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						GGCCCGCTGGTTTTGGAGTGT	0.478																																																	0								ENSG00000066382						86.0	86.0	86.0					11																	30557692		2202	4299	6501	MPPED2	SO:0001589	frameshift_variant	0				HGNC	U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"""chromosome 11 open reading frame 8"""	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.159delA	11.37:g.30557692delT	ENSP00000350833:p.Lys53fs	Somatic	0	106	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	14	12.50	D3DQZ5|E9PB10|Q59GE6	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_PEstase_dom	p.K53fs	ENST00000358117.5	37	c.159	CCDS7870.1	11																																																																																			-	NULL		0.478	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MPPED2	protein_coding	OTTHUMT00000388155.2	T	NM_001584			30557692	-1	no_errors	ENST00000358117	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-
LRRK2	120892	genome.wustl.edu	37	12	40689357	40689357	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr12:40689357delA	ENST00000298910.7	+	23	3065	c.3007delA	c.(3007-3009)aaafs	p.K1003fs	LRRK2_ENST00000343742.2_Frame_Shift_Del_p.K1003fs	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1003					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CCTAAGCCAGAAATGCTGTAT	0.393																																																	0								ENSG00000188906						78.0	73.0	75.0					12																	40689357		2203	4300	6503	LRRK2	SO:0001589	frameshift_variant	0				HGNC	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3007delA	12.37:g.40689357delA	ENSP00000298910:p.Lys1003fs	Somatic	0	48	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	13	13.33	A6NJU2|Q6ZS50|Q8NCX9	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.K1003fs	ENST00000298910.7	37	c.3007	CCDS31774.1	12																																																																																			-	NULL		0.393	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	protein_coding	OTTHUMT00000277179.1	A	XM_058513			40689357	+1	no_errors	ENST00000298910	ensembl	human	known	74_37	frame_shift_del	DEL	0.937	-
ATP13A2	23400	genome.wustl.edu	37	1	17322893	17322893	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr1:17322893G>A	ENST00000326735.8	-	13	1327	c.1294C>T	c.(1294-1296)Ctc>Ttc	p.L432F	ATP13A2_ENST00000452699.1_Missense_Mutation_p.L427F|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000502860.1_Intron|ATP13A2_ENST00000341676.5_Missense_Mutation_p.L427F			Q9NQ11	AT132_HUMAN	ATPase type 13A2	432					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		AGGACAGAGAGGGCAGCCACA	0.607																																																	0								ENSG00000159363						75.0	83.0	80.0					1																	17322893		2203	4300	6503	ATP13A2	SO:0001583	missense	0			-	HGNC	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.1294C>T	1.37:g.17322893G>A	ENSP00000327214:p.Leu432Phe	Somatic	0	215	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	63	26.74	O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.L432F	ENST00000326735.8	37	c.1294	CCDS175.1	1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458567	0.84317	.	.	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699;ENST00000506174	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	4.69	4.69	0.59074	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.97031	0.9030	M	0.93720	3.45	0.80722	D	1	D;D;D;D	0.89917	0.988;0.991;1.0;1.0	P;D;D;D	0.97110	0.893;0.961;1.0;0.999	D	0.98247	1.0491	10	0.87932	D	0	-25.9236	16.1502	0.81611	0.0:0.0:1.0:0.0	.	145;427;427;432	Q6ZP48;Q5JXY1;Q6S9Z9;Q9NQ11	.;.;.;AT132_HUMAN	F	432;427;427;146	ENSP00000327214:L432F;ENSP00000341115:L427F;ENSP00000413307:L427F;ENSP00000424393:L146F	ENSP00000327214:L432F	L	-	1	0	ATP13A2	17195480	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.733000	0.55029	2.141000	0.66446	0.561000	0.74099	CTC	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase		0.607	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP13A2	protein_coding	OTTHUMT00000006617.1	G	NM_022089	-		17322893	-1	no_errors	ENST00000326735	ensembl	human	known	74_37	missense	SNP	1.000	A
ATXN7L2	127002	genome.wustl.edu	37	1	110033610	110033610	+	Silent	SNP	C	C	T			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr1:110033610C>T	ENST00000369870.3	+	10	1440	c.1425C>T	c.(1423-1425)agC>agT	p.S475S		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	475										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTCCCCTGAGCCCATCCTCTA	0.617											OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000162650						80.0	86.0	84.0					1																	110033610		2203	4300	6503	ATXN7L2	SO:0001819	synonymous_variant	0			-	HGNC	BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.1425C>T	1.37:g.110033610C>T		Somatic	0	134	0.00	1424	0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_SCA7_dom	p.S475	ENST00000369870.3	37	c.1425	CCDS30794.1	1																																																																																			-	NULL		0.617	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L2	protein_coding	OTTHUMT00000030331.1	C	NM_153340	-		110033610	+1	no_errors	ENST00000369870	ensembl	human	known	74_37	silent	SNP	1.000	T
TOPAZ1	375337	genome.wustl.edu	37	3	44285989	44285989	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr3:44285989G>T	ENST00000309765.4	+	2	2159	c.1991G>T	c.(1990-1992)tGc>tTc	p.C664F		NM_001145030.1	NP_001138502.1	Q8N9V7	TOPZ1_HUMAN	testis and ovary specific PAZ domain containing 1	664						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)										CGAAAAGCATGCATTGCTCAA	0.338																																																	0								ENSG00000173769						38.0	33.0	34.0					3																	44285989		692	1591	2283	TOPAZ1	SO:0001583	missense	0			-	HGNC	AK093476	CCDS46809.1	3p21.33	2012-10-08	2012-10-08	2012-10-08	ENSG00000173769	ENSG00000173769			24746	protein-coding gene	gene with protein product		614412	"""chromosome 3 open reading frame 77"""	C3orf77		22069478	Standard	NM_001145030		Approved	FLJ36157	uc003cna.4	Q8N9V7	OTTHUMG00000156172	ENST00000309765.4:c.1991G>T	3.37:g.44285989G>T	ENSP00000310303:p.Cys664Phe	Somatic	0	34	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.C664F	ENST00000309765.4	37	c.1991	CCDS46809.1	3	.	.	.	.	.	.	.	.	.	.	G	3.296	-0.143865	0.06627	.	.	ENSG00000173769	ENST00000309765	T	0.10005	2.92	5.43	0.174	0.15040	.	0.411955	0.23629	N	0.046149	T	0.06690	0.0171	L	0.32530	0.975	0.09310	N	1	B	0.17667	0.023	B	0.16289	0.015	T	0.27191	-1.0081	10	0.66056	D	0.02	-0.3315	2.9103	0.05734	0.1704:0.3901:0.3222:0.1173	.	664	Q8N9V7	CC077_HUMAN	F	664	ENSP00000310303:C664F	ENSP00000310303:C664F	C	+	2	0	C3orf77	44260993	0.010000	0.17322	0.001000	0.08648	0.005000	0.04900	1.672000	0.37523	0.111000	0.17947	-0.302000	0.09304	TGC	-	NULL		0.338	TOPAZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPAZ1	protein_coding	OTTHUMT00000343247.1	G	NM_001145030	-		44285989	+1	no_errors	ENST00000309765	ensembl	human	known	74_37	missense	SNP	0.001	T
NOP2	4839	genome.wustl.edu	37	12	6671112	6671112	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr12:6671112A>T	ENST00000322166.5	-	10	1125	c.1004T>A	c.(1003-1005)cTg>cAg	p.L335Q	NOP2_ENST00000382421.3_Missense_Mutation_p.L368Q|NOP2_ENST00000537442.1_Missense_Mutation_p.L335Q|NOP2_ENST00000399466.2_Missense_Mutation_p.L331Q|NOP2_ENST00000545200.1_Missense_Mutation_p.L331Q|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000541778.1_Missense_Mutation_p.L331Q	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	335					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CAGGGGATCCAGGTTAACCCC	0.473																																																	0								ENSG00000111641						79.0	80.0	80.0					12																	6671112		1904	4122	6026	NOP2	SO:0001583	missense	0			-	HGNC		CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.1004T>A	12.37:g.6671112A>T	ENSP00000313272:p.Leu335Gln	Somatic	0	120	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	34	20.93	A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Fmu/NOL1/Nop2p,pfam_P120R,pfam_rRNA_MeTrfase_FtsJ_dom,prints_RCMT,prints_RCMT_NOP2,tigrfam_Nop2p	p.L335Q	ENST00000322166.5	37	c.1004	CCDS58203.1	12	.	.	.	.	.	.	.	.	.	.	A	25.2	4.618051	0.87359	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778;ENST00000542944	T;T;T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67;1.67;1.67	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.68531	0.3011	H	0.96518	3.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.80120	-0.1515	10	0.87932	D	0	-3.1253	15.2651	0.73654	1.0:0.0:0.0:0.0	.	331;331	Q05BA7;P46087-2	.;.	Q	335;368;331;331;335;331;211	ENSP00000444437:L335Q;ENSP00000371858:L368Q;ENSP00000439422:L331Q;ENSP00000382392:L331Q;ENSP00000313272:L335Q;ENSP00000443150:L331Q;ENSP00000440754:L211Q	ENSP00000313272:L335Q	L	-	2	0	NOP2	6541373	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.441000	0.80485	1.998000	0.58463	0.533000	0.62120	CTG	-	pfam_Fmu/NOL1/Nop2p,tigrfam_Nop2p		0.473	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP2	protein_coding	OTTHUMT00000402614.1	A	NM_006170	-		6671112	-1	no_errors	ENST00000322166	ensembl	human	known	74_37	missense	SNP	1.000	T
C7orf25	79020	genome.wustl.edu	37	7	42949654	42949654	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr7:42949654T>A	ENST00000350427.4	-	2	1121	c.846A>T	c.(844-846)caA>caT	p.Q282H	C7orf25_ENST00000447342.1_Missense_Mutation_p.Q282H|C7orf25_ENST00000438029.1_Missense_Mutation_p.Q282H|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000431882.2_Missense_Mutation_p.Q340H			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	282										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						CTTTCCTCTCTTGCTCTGCTT	0.428																																																	0								ENSG00000136197						125.0	121.0	122.0					7																	42949654		2203	4300	6503	C7orf25	SO:0001583	missense	0			-	HGNC	BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197			21703	protein-coding gene	gene with protein product							Standard	NM_024054		Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.846A>T	7.37:g.42949654T>A	ENSP00000343364:p.Gln282His	Somatic	0	66	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	A4D1V2|J3KR36|Q9H779	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF1308	p.Q340H	ENST00000350427.4	37	c.1020	CCDS5466.1	7	.	.	.	.	.	.	.	.	.	.	T	15.89	2.966134	0.53507	.	.	ENSG00000136197	ENST00000350427;ENST00000447342;ENST00000431882;ENST00000438029	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.79	-6.4	0.01944	.	0.053511	0.85682	N	0.000000	T	0.49440	0.1557	M	0.65975	2.015	0.58432	D	0.999997	D;D	0.71674	0.998;0.998	D;D	0.68943	0.961;0.957	T	0.64296	-0.6441	10	0.14656	T	0.56	-2.7016	12.7043	0.57051	0.0:0.5741:0.0959:0.3301	.	340;282	B4DQM3;Q9BPX7	.;CG025_HUMAN	H	282;282;340;282	ENSP00000343364:Q282H;ENSP00000413029:Q282H;ENSP00000416290:Q340H;ENSP00000396597:Q282H	ENSP00000343364:Q282H	Q	-	3	2	C7orf25	42916179	0.950000	0.32346	0.846000	0.33378	0.995000	0.86356	0.098000	0.15189	-1.115000	0.02973	0.459000	0.35465	CAA	-	pfam_DUF1308		0.428	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf25	protein_coding	OTTHUMT00000250814.2	T	NM_024054	-		42949654	-1	no_errors	ENST00000431882	ensembl	human	known	74_37	missense	SNP	0.755	A
TRAPPC11	60684	genome.wustl.edu	37	4	184603969	184603969	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr4:184603969G>T	ENST00000334690.6	+	11	1400	c.1198G>T	c.(1198-1200)Gga>Tga	p.G400*	TRAPPC11_ENST00000357207.4_Nonsense_Mutation_p.G400*|TRAPPC11_ENST00000512476.1_5'Flank	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	400					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											ATGGCGACAAGGAATACTAAG	0.373																																																	0								ENSG00000168538						87.0	86.0	86.0					4																	184603969		2203	4300	6503	TRAPPC11	SO:0001587	stop_gained	0			-	HGNC		CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.1198G>T	4.37:g.184603969G>T	ENSP00000335371:p.Gly400*	Somatic	0	70	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Foie-gras_1,pfam_DUF1683_C	p.G400*	ENST00000334690.6	37	c.1198	CCDS34112.1	4	.	.	.	.	.	.	.	.	.	.	G	40	8.441633	0.98813	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000360109	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	18.5737	0.91147	0.0:0.0:1.0:0.0	.	.	.	.	X	400	.	ENSP00000335371:G400X	G	+	1	0	C4orf41	184840963	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.176000	0.94839	2.472000	0.83506	0.467000	0.42956	GGA	-	pfam_Foie-gras_1		0.373	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC11	protein_coding	OTTHUMT00000361654.2	G	NM_021942	-		184603969	+1	no_errors	ENST00000334690	ensembl	human	known	74_37	nonsense	SNP	1.000	T
MATN3	4148	genome.wustl.edu	37	2	20196955	20196955	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr2:20196955delA	ENST00000407540.3	-	6	1296	c.1234delT	c.(1234-1236)tccfs	p.S412fs	MATN3_ENST00000421259.2_Frame_Shift_Del_p.S370fs|AC079145.4_ENST00000416575.1_RNA	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	412	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTGGTAGGATGCGGCCCCA	0.488																																																	0								ENSG00000132031						73.0	70.0	71.0					2																	20196955		2000	4163	6163	MATN3	SO:0001589	frameshift_variant	0				HGNC	AJ001047	CCDS46226.1	2p24-p23	2008-06-03			ENSG00000132031	ENSG00000132031			6909	protein-coding gene	gene with protein product		602109				9287130, 9350998	Standard	NM_002381		Approved	EDM5, HOA	uc002rdl.3	O15232	OTTHUMG00000151788	ENST00000407540.3:c.1234delT	2.37:g.20196955delA	ENSP00000383894:p.Ser412fs	Somatic	0	37	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	12	14.29	B2CPU0|Q4ZG02	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd_dom,smart_VWF_A,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_A	p.S412fs	ENST00000407540.3	37	c.1234	CCDS46226.1	2																																																																																			-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.488	MATN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MATN3	protein_coding	OTTHUMT00000323925.1	A	NM_002381			20196955	-1	no_errors	ENST00000407540	ensembl	human	known	74_37	frame_shift_del	DEL	0.255	-
PPARG	5468	genome.wustl.edu	37	3	12458565	12458565	+	Silent	SNP	C	C	G			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr3:12458565C>G	ENST00000287820.6	+	6	1303	c.1182C>G	c.(1180-1182)ccC>ccG	p.P394P	PPARG_ENST00000539812.1_Intron|PPARG_ENST00000397026.2_Silent_p.P372P|PPARG_ENST00000397012.2_Silent_p.P366P|PPARG_ENST00000397010.2_Silent_p.P366P|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000309576.6_Silent_p.P366P|PPARG_ENST00000397015.2_Silent_p.P366P	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	394	Ligand-binding.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	TTATGGAGCCCAAGTTTGAGT	0.428			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""																																	Dom	yes		3	3p25	5468	"""peroxisome proliferative activated receptor, gamma"""	yes	E	0								ENSG00000132170						44.0	43.0	43.0					3																	12458565		2203	4300	6503	PPARG	SO:0001819	synonymous_variant	0			-	HGNC	X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"""Nuclear hormone receptors"""	9236	protein-coding gene	gene with protein product		601487	"""peroxisome proliferative activated receptor, gamma"""			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.1182C>G	3.37:g.12458565C>G		Somatic	0	95	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_PPARgamma_N,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt,prints_1Cnucl_rcpt_G,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.P394	ENST00000287820.6	37	c.1182	CCDS2609.1	3																																																																																			-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_1Cnucl_rcpt		0.428	PPARG-002	KNOWN	basic|CCDS	protein_coding	PPARG	protein_coding	OTTHUMT00000251979.2	C	NM_005037	-		12458565	+1	no_errors	ENST00000287820	ensembl	human	known	74_37	silent	SNP	1.000	G
EXD3	54932	genome.wustl.edu	37	9	140243836	140243836	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr9:140243836delG	ENST00000340951.4	-	15	1837	c.1642delC	c.(1642-1644)cagfs	p.Q548fs	EXD3_ENST00000342129.4_Frame_Shift_Del_p.Q228fs	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						TAGATGACCTGCTCCTCGCAG	0.701																																																	0								ENSG00000187609						20.0	26.0	24.0					9																	140243836		2086	4208	6294	EXD3	SO:0001589	frameshift_variant	0				HGNC		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.1642delC	9.37:g.140243836delG	ENSP00000340474:p.Gln548fs	Somatic	0	59	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	21	8.70	Q6P1M1|Q8IXT8	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Mut7-C_RNAse_dom,pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	p.Q548fs	ENST00000340951.4	37	c.1642	CCDS48066.1	9																																																																																			-	pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom		0.701	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXD3	protein_coding	OTTHUMT00000343182.1	G	NM_017820			140243836	-1	no_errors	ENST00000340951	ensembl	human	known	74_37	frame_shift_del	DEL	0.993	-
CDC40	51362	genome.wustl.edu	37	6	110522833	110522833	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr6:110522833delC	ENST00000368932.1	+	4	450	c.349delC	c.(349-351)ccafs	p.P117fs	CDC40_ENST00000307731.1_Frame_Shift_Del_p.P117fs|CDC40_ENST00000368930.1_Frame_Shift_Del_p.P117fs			O60508	PRP17_HUMAN	cell division cycle 40	117					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		ATATGCCGAACCAGCTCATAT	0.363																																																	0								ENSG00000168438						126.0	123.0	124.0					6																	110522833		2203	4300	6503	CDC40	SO:0001589	frameshift_variant	0				HGNC	AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"""WD repeat domain containing"""	17350	protein-coding gene	gene with protein product		605585	"""cell division cycle 40 homolog (yeast)"", ""cell division cycle 40 homolog (S. cerevisiae)"""			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.349delC	6.37:g.110522833delC	ENSP00000357928:p.Pro117fs	Somatic	0	68	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	17	10.53	B2RBC5|O75471|Q5SRN0|Q9UPG1	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P117fs	ENST00000368932.1	37	c.349	CCDS5081.1	6																																																																																			-	NULL		0.363	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC40	protein_coding	OTTHUMT00000041791.1	C	NM_015891			110522833	+1	no_errors	ENST00000307731	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-
IRX4	50805	genome.wustl.edu	37	5	1879802	1879802	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr5:1879802C>T	ENST00000505790.1	-	5	1008	c.552G>A	c.(550-552)atG>atA	p.M184I	IRX4_ENST00000231357.2_Missense_Mutation_p.M184I|IRX4_ENST00000513692.1_Missense_Mutation_p.M184I|IRX4_ENST00000505938.1_5'UTR	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	184					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GTGTGAGGGTCATCTTGGTGA	0.627																																																	0								ENSG00000113430						182.0	136.0	151.0					5																	1879802		2203	4300	6503	IRX4	SO:0001583	missense	0			-	HGNC	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"""Homeoboxes / TALE class"""	6129	protein-coding gene	gene with protein product		606199	"""iroquois homeobox protein 4"""			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.552G>A	5.37:g.1879802C>T	ENSP00000423161:p.Met184Ile	Somatic	0	135	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	78	21.21	B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.M184I	ENST00000505790.1	37	c.552	CCDS3867.1	5	.	.	.	.	.	.	.	.	.	.	C	25.4	4.637410	0.87760	.	.	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692;ENST00000511126	D;D;D;D	0.91068	-1.72;-1.72;-1.72;-2.78	4.55	4.55	0.56014	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.92580	0.7643	L	0.35644	1.08	0.80722	D	1	D	0.53885	0.963	D	0.69824	0.966	D	0.93746	0.7054	10	0.87932	D	0	-23.5184	16.0968	0.81132	0.0:1.0:0.0:0.0	.	184	P78413	IRX4_HUMAN	I	184;184;184;210	ENSP00000231357:M184I;ENSP00000423161:M184I;ENSP00000424235:M184I;ENSP00000421772:M210I	ENSP00000231357:M184I	M	-	3	0	IRX4	1932802	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.358000	0.79466	2.067000	0.61834	0.462000	0.41574	ATG	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.627	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	IRX4	protein_coding	OTTHUMT00000365500.1	C	NM_016358	-		1879802	-1	no_errors	ENST00000231357	ensembl	human	known	74_37	missense	SNP	1.000	T
NPAS2	4862	genome.wustl.edu	37	2	101541705	101541705	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr2:101541705G>T	ENST00000335681.5	+	3	415	c.130G>T	c.(130-132)Gac>Tac	p.D44Y	NPAS2_ENST00000486017.1_3'UTR|NPAS2_ENST00000542504.1_Missense_Mutation_p.D109Y	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	44	Sufficient for heterodimer formation with ARNTL/BMAL1, E-box binding and for the effect of NADPH. {ECO:0000250|UniProtKB:P97460}.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCGGAAAATGGACAAAACCAC	0.483																																																	0								ENSG00000170485						110.0	103.0	106.0					2																	101541705		2203	4300	6503	NPAS2	SO:0001583	missense	0			-	HGNC	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.130G>T	2.37:g.101541705G>T	ENSP00000338283:p.Asp44Tyr	Somatic	0	116	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS	p.D109Y	ENST00000335681.5	37	c.325	CCDS2048.1	2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	24.1|24.1|24.1	4.493637|4.493637|4.493637	0.84962|0.84962|0.84962	.|.|.	.|.|.	ENSG00000170485|ENSG00000170485|ENSG00000170485	ENST00000335681;ENST00000542504;ENST00000451740|ENST00000448812|ENST00000427413	D;D;D|.|.	0.98060|.|.	-4.69;-4.69;-4.69|.|.	5.65|5.65|5.65	5.65|5.65|5.65	0.86999|0.86999|0.86999	Helix-loop-helix DNA-binding (5);|.|.	0.050953|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.80025|0.80025|0.80025	0.4548|0.4548|0.4548	M|M|M	0.87682|0.87682|0.87682	2.9|2.9|2.9	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D|.|.	0.89917|.|.	1.0;1.0|.|.	D;D|.|.	0.79784|.|.	0.991;0.993|.|.	T|T|T	0.82472|0.82472|0.82472	-0.0440|-0.0440|-0.0440	10|5|5	0.87932|.|.	D|.|.	0|.|.	.|.|.	15.2356|15.2356|15.2356	0.73427|0.73427|0.73427	0.0:0.14:0.86:0.0|0.0:0.14:0.86:0.0|0.0:0.14:0.86:0.0	.|.|.	109;44|.|.	F5H027;Q99743|.|.	.;NPAS2_HUMAN|.|.	Y|V|C	44;109;28|33|109	ENSP00000338283:D44Y;ENSP00000438428:D109Y;ENSP00000395265:D28Y|.|.	ENSP00000338283:D44Y|.|.	D|G|W	+|+|+	1|2|3	0|0|0	NPAS2|NPAS2|NPAS2	100908137|100908137|100908137	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.995000|0.995000|0.995000	0.86356|0.86356|0.86356	7.319000|7.319000|7.319000	0.79040|0.79040|0.79040	2.646000|2.646000|2.646000	0.89796|0.89796|0.89796	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAC|GGA|TGG	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom		0.483	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NPAS2	protein_coding	OTTHUMT00000253168.3	G		-		101541705	+1	no_errors	ENST00000542504	ensembl	human	known	74_37	missense	SNP	1.000	T
SPAG11B	10407	genome.wustl.edu	37	8	7315547	7315547	+	Intron	SNP	A	A	G			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr8:7315547A>G	ENST00000297498.2	-	2	381				SPAG11B_ENST00000398462.2_Intron|AC130360.1_ENST00000401375.1_RNA|SPAG11B_ENST00000359758.5_Intron|SPAG11B_ENST00000361111.2_Intron	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B						spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		aaaaaccacaattacttttgt	0.353																																																	0								ENSG00000216194																																			AC130360.1	SO:0001627	intron_variant	0			-	Clone_based_ensembl_gene	AF168616	CCDS5964.1, CCDS5965.1, CCDS5966.1, CCDS5967.1, CCDS47774.1	8p23.1	2014-02-21	2007-03-15	2007-03-15	ENSG00000164871	ENSG00000164871			14534	protein-coding gene	gene with protein product	"""epididymal protein 2B"""	606560				8167223, 1693137	Standard	NM_058200		Approved	HE2, EP2, EP2C, EP2D, EDDM2B	uc003wrl.3	Q08648	OTTHUMG00000129219	ENST00000297498.2:c.214+4681T>C	8.37:g.7315547A>G		Somatic	0	174	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	52	11.86	E9PFH0|Q546A0|Q6ZYB2|Q9H4P8|Q9H4P9|Q9H4Q0|Q9H4Q1|Q9H4Q2|Q9NRT3|Q9NRV4|Q9NRV5|Q9NRV6|Q9NRV7|Q9NRV8	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000297498.2	37	NULL	CCDS5966.1	8																																																																																			-	-		0.353	SPAG11B-003	KNOWN	basic|CCDS	protein_coding	ENSG00000216194	protein_coding	OTTHUMT00000251390.2	A	NM_058202, NM_058200, NM_058201, NM_016512, NM_058203, NM_058206, NM_058207	-		7315547	+1	no_errors	ENST00000401375	ensembl	human	novel	74_37	rna	SNP	0.007	G
ATP11A	23250	genome.wustl.edu	37	13	113473690	113473690	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr13:113473690G>A	ENST00000487903.1	+	7	731	c.643G>A	c.(643-645)Gag>Aag	p.E215K	ATP11A_ENST00000375645.3_Missense_Mutation_p.E215K|ATP11A_ENST00000375630.2_Missense_Mutation_p.E215K|ATP11A_ENST00000283558.8_Missense_Mutation_p.E215K			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	215					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CGCCACCATCGAGTGTGAGCA	0.517																																																	0								ENSG00000068650						89.0	80.0	83.0					13																	113473690		2203	4300	6503	ATP11A	SO:0001583	missense	0			-	HGNC	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.643G>A	13.37:g.113473690G>A	ENSP00000420387:p.Glu215Lys	Somatic	0	95	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	33	23.26	Q5VXT2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.E215K	ENST00000487903.1	37	c.643	CCDS32011.1	13	.	.	.	.	.	.	.	.	.	.	G	34	5.371586	0.95923	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	T;T;T;T	0.46063	0.89;0.88;0.89;0.89	5.34	5.34	0.76211	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	T	0.61899	0.2384	L	0.58925	1.835	0.80722	D	1	D;D;P	0.89917	1.0;0.995;0.884	D;D;P	0.97110	1.0;0.934;0.832	T	0.56353	-0.7993	10	0.30078	T	0.28	.	19.0413	0.93000	0.0:0.0:1.0:0.0	.	215;215;215	E9PCW5;E9PEJ6;P98196	.;.;AT11A_HUMAN	K	215	ENSP00000420387:E215K;ENSP00000364781:E215K;ENSP00000364796:E215K;ENSP00000283558:E215K	ENSP00000283558:E215K	E	+	1	0	ATP11A	112521691	1.000000	0.71417	0.939000	0.37840	0.597000	0.36814	9.315000	0.96313	2.489000	0.83994	0.655000	0.94253	GAG	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp		0.517	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP11A	protein_coding	OTTHUMT00000045834.3	G	NM_015205	-		113473690	+1	no_errors	ENST00000375630	ensembl	human	known	74_37	missense	SNP	1.000	A
ACHE	43	genome.wustl.edu	37	7	100491105	100491105	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr7:100491105C>T	ENST00000412389.1	-	1	904	c.749G>A	c.(748-750)cGg>cAg	p.R250Q	ACHE_ENST00000411582.1_Missense_Mutation_p.R250Q|ACHE_ENST00000497647.1_5'Flank|ACHE_ENST00000419336.2_Missense_Mutation_p.R250Q|ACHE_ENST00000302913.4_Missense_Mutation_p.R250Q|ACHE_ENST00000428317.1_Missense_Mutation_p.R250Q|ACHE_ENST00000241069.5_Missense_Mutation_p.R250Q			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	250					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	GAACAGGCCCCGGCTGGGCGG	0.721																																																	0								ENSG00000087085						22.0	26.0	24.0					7																	100491105		2198	4288	6486	ACHE	SO:0001583	missense	0			-	HGNC		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"""Blood group antigens"""	108	protein-coding gene	gene with protein product	"""Yt blood group"""	100740	"""acetylcholinesterase (YT blood group)"", ""acetylcholinesterase (Yt blood group)"", ""acetylcholinesterase"""	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.749G>A	7.37:g.100491105C>T	ENSP00000394976:p.Arg250Gln	Somatic	0	44	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	12	25.00	A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase	p.R250Q	ENST00000412389.1	37	c.749	CCDS5709.1	7	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629417	0.28978	.	.	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000426415;ENST00000430554;ENST00000411582;ENST00000422451	T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	4.95	4.95	0.65309	Carboxylesterase, type B (1);	0.057533	0.64402	D	0.000002	T	0.58977	0.2160	L	0.56280	1.765	0.48830	D	0.999719	D;P;P;D	0.59357	0.985;0.882;0.945;0.97	B;B;B;B	0.42282	0.382;0.064;0.149;0.249	T	0.60342	-0.7282	10	0.36615	T	0.2	.	9.3398	0.38074	0.0:0.9007:0.0:0.0993	.	250;250;250;250	B7WPI6;P22303-3;P22303-2;P22303	.;.;.;ACES_HUMAN	Q	250	ENSP00000403474:R250Q;ENSP00000241069:R250Q;ENSP00000414858:R250Q;ENSP00000303211:R250Q;ENSP00000394976:R250Q;ENSP00000397143:R250Q;ENSP00000399725:R250Q;ENSP00000404865:R250Q	ENSP00000241069:R250Q	R	-	2	0	ACHE	100329041	0.288000	0.24324	1.000000	0.80357	0.075000	0.17131	0.905000	0.28504	2.281000	0.76405	0.484000	0.47621	CGG	-	pfam_CarbesteraseB		0.721	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACHE	protein_coding	OTTHUMT00000347201.1	C	NM_015831	-		100491105	-1	no_errors	ENST00000302913	ensembl	human	known	74_37	missense	SNP	1.000	T
MAPK8IP3	23162	genome.wustl.edu	37	16	1812437	1812437	+	Missense_Mutation	SNP	G	G	A	rs62040026		TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr16:1812437G>A	ENST00000250894.4	+	14	1779	c.1622G>A	c.(1621-1623)cGg>cAg	p.R541Q	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R535Q	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	541					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TACAAGGAGCGGCTGATGGAG	0.667																																																	0								ENSG00000138834						50.0	63.0	58.0					16																	1812437		2159	4274	6433	MAPK8IP3	SO:0001583	missense	0			-	HGNC	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.1622G>A	16.37:g.1812437G>A	ENSP00000250894:p.Arg541Gln	Somatic	0	146	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	78	8.24	A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.R541Q	ENST00000250894.4	37	c.1622	CCDS10442.2	16	.	.	.	.	.	.	.	.	.	.	G	37	6.545660	0.97654	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.43294	0.95;0.95	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.64583	0.2611	M	0.61703	1.905	0.80722	D	1	D;D;D	0.71674	0.996;0.977;0.998	P;P;D	0.77557	0.895;0.65;0.99	T	0.65496	-0.6154	10	0.87932	D	0	-33.0926	19.4876	0.95035	0.0:0.0:1.0:0.0	.	542;535;541	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	Q	541;535	ENSP00000250894:R541Q;ENSP00000348290:R535Q	ENSP00000250894:R541Q	R	+	2	0	MAPK8IP3	1752438	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.394000	0.97261	2.700000	0.92200	0.655000	0.94253	CGG	-	NULL		0.667	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK8IP3	protein_coding	OTTHUMT00000250508.2	G	NM_001040439	-		1812437	+1	no_errors	ENST00000250894	ensembl	human	known	74_37	missense	SNP	1.000	A
OR5M1	390168	genome.wustl.edu	37	11	56380055	56380055	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr11:56380055delT	ENST00000526538.1	-	1	923	c.924delA	c.(922-924)aaafs	p.K308fs		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	308						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TATGAAAGGATTTTCCCCTAA	0.378																																																	0								ENSG00000255012						138.0	137.0	137.0					11																	56380055		1849	4098	5947	OR5M1	SO:0001589	frameshift_variant	0				HGNC	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.924delA	11.37:g.56380055delT	ENSP00000435416:p.Lys308fs	Somatic	0	92	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	33	8.33	Q6IF60|Q96RB6	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K308fs	ENST00000526538.1	37	c.924	CCDS53631.1	11																																																																																			-	NULL		0.378	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M1	protein_coding	OTTHUMT00000391610.1	T	NM_001004740			56380055	-1	no_errors	ENST00000526538	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-
ABCA12	26154	genome.wustl.edu	37	2	215852473	215852473	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr2:215852473delA	ENST00000272895.7	-	27	4093	c.3874delT	c.(3874-3876)tccfs	p.S1292fs	ABCA12_ENST00000389661.4_Frame_Shift_Del_p.S974fs	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1292					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTCCAATAGGAAGGAAGAATT	0.428																																					Ovarian(66;664 1488 5121 34295)												0								ENSG00000144452						68.0	60.0	63.0					2																	215852473		2203	4300	6503	ABCA12	SO:0001589	frameshift_variant	0				HGNC	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.3874delT	2.37:g.215852473delA	ENSP00000272895:p.Ser1292fs	Somatic	0	55	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	10	16.67	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S1292fs	ENST00000272895.7	37	c.3874	CCDS33372.1	2																																																																																			-	NULL		0.428	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	protein_coding	OTTHUMT00000337111.1	A	NM_173076			215852473	-1	no_errors	ENST00000272895	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-
MAP3K6	9064	genome.wustl.edu	37	1	27691161	27691161	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr1:27691161C>A	ENST00000493901.1	-	4	734	c.495G>T	c.(493-495)caG>caT	p.Q165H	MAP3K6_ENST00000374040.3_Intron|MAP3K6_ENST00000357582.2_Missense_Mutation_p.Q165H	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	165					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCGAGTTCTTCTGGAAAACAT	0.572																																																	0								ENSG00000142733						126.0	119.0	122.0					1																	27691161		2203	4300	6503	MAP3K6	SO:0001583	missense	0			-	HGNC	AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.495G>T	1.37:g.27691161C>A	ENSP00000419591:p.Gln165His	Somatic	0	62	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q165H	ENST00000493901.1	37	c.495	CCDS299.1	1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757629	0.69648	.	.	ENSG00000142733	ENST00000493901;ENST00000357582	T;T	0.69040	-0.37;-0.37	5.26	5.26	0.73747	.	.	.	.	.	T	0.75110	0.3805	L	0.49778	1.585	0.80722	D	1	D	0.69078	0.997	D	0.85130	0.997	T	0.76008	-0.3116	9	0.72032	D	0.01	.	9.7408	0.40418	0.0:0.9087:0.0:0.0913	.	165	O95382	M3K6_HUMAN	H	165	ENSP00000419591:Q165H;ENSP00000350195:Q165H	ENSP00000350195:Q165H	Q	-	3	2	MAP3K6	27563748	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.178000	0.50879	2.750000	0.94351	0.561000	0.74099	CAG	-	NULL		0.572	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MAP3K6	protein_coding	OTTHUMT00000013469.2	C	NM_004672	-		27691161	-1	no_errors	ENST00000357582	ensembl	human	known	74_37	missense	SNP	1.000	A
SEMA4B	10509	genome.wustl.edu	37	15	90744945	90744945	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr15:90744945delC	ENST00000411539.2	+	1	395	c.135delC	c.(133-135)agcfs	p.S45fs	SEMA4B_ENST00000332496.6_Frame_Shift_Del_p.S45fs|SEMA4B_ENST00000379122.3_Frame_Shift_Del_p.S40fs	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	40	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)	receptor activity (GO:0004872)			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			GGGCGCTCAGCCCCCGGATCA	0.771																																																	0								ENSG00000185033						2.0	2.0	2.0					15																	90744945		1286	2912	4198	SEMA4B	SO:0001589	frameshift_variant	0				HGNC	AB051532	CCDS45347.1	15q25	2008-07-18						"""Semaphorins"""	10730	protein-coding gene	gene with protein product				SEMAC		7748561	Standard	NM_020210		Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.135delC	15.37:g.90744945delC	ENSP00000394720:p.Ser45fs	Somatic	0	17	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	11	15.38	Q6UXE3|Q8WVP9|Q96FK5|Q9C0B8|Q9H691|Q9NPM8|Q9NPN0	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.R47fs	ENST00000411539.2	37	c.135	CCDS45347.1	15																																																																																			-	superfamily_Semap_dom,pfscan_Semap_dom		0.771	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4B	protein_coding	OTTHUMT00000416810.1	C	NM_198925			90744945	+1	no_errors	ENST00000332496	ensembl	human	known	74_37	frame_shift_del	DEL	0.781	-
MLLT1	4298	genome.wustl.edu	37	19	6222272	6222274	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	AGG	AGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr19:6222272_6222274delAGG	ENST00000252674.7	-	6	1131_1133	c.968_970delCCT	c.(967-972)tccttc>ttc	p.S323del		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	323	Poly-Ser.				negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						TTGTCCGAGAAGGAGGAGGAGGA	0.65			T	MLL	AL																																			Dom	yes		19	19p13.3	4298	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""		L	0								ENSG00000130382			15,4239		1,13,2113						2.5	0.9			35	38,8216		0,38,4089	no	coding	MLLT1	NM_005934.3		1,51,6202	A1A1,A1R,RR		0.4604,0.3526,0.4237				53,12455				MLLT1	SO:0001651	inframe_deletion	0				HGNC		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.968_970delCCT	19.37:g.6222281_6222283delAGG	ENSP00000252674:p.Ser323del	Somatic	0	106	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	13	13.33	Q14768	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_YEATS,pfscan_YEATS	p.S323in_frame_del	ENST00000252674.7	37	c.970_968	CCDS12160.1	19																																																																																			-	NULL		0.650	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLLT1	protein_coding	OTTHUMT00000452909.1	AGG	NM_005934			6222274	-1	no_errors	ENST00000252674	ensembl	human	known	74_37	in_frame_del	DEL	0.643:0.503:0.456	-
C18orf61	497259	genome.wustl.edu	37	18	12211904	12211904	+	RNA	SNP	C	C	T			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr18:12211904C>T	ENST00000586882.1	+	0	125					NR_049896.1																						GGCGGGCTTCCTAGGATGATT	0.363																																																	0								ENSG00000267733																																			RP11-64C12.3			0			-	Clone_based_vega_gene																													18.37:g.12211904C>T		Somatic	0	103	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	34	19.05		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000586882.1	37	NULL		18																																																																																			-	-		0.363	RP11-64C12.3-002	KNOWN	basic	processed_transcript	C18orf61	pseudogene	OTTHUMT00000452742.1	C		-		12211904	+1	no_errors	ENST00000586642	ensembl	human	known	74_37	rna	SNP	1.000	T
ZZZ3	26009	genome.wustl.edu	37	1	78031789	78031789	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr1:78031789A>T	ENST00000370801.3	-	14	3019	c.2544T>A	c.(2542-2544)gaT>gaA	p.D848E	ZZZ3_ENST00000370798.1_Missense_Mutation_p.D354E|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	848					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						AATCACAGAAATCCAAAGACA	0.403																																																	0								ENSG00000036549						64.0	60.0	61.0					1																	78031789		2203	4300	6503	ZZZ3	SO:0001583	missense	0			-	HGNC	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.2544T>A	1.37:g.78031789A>T	ENSP00000359837:p.Asp848Glu	Somatic	0	87	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	62	31.87	B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.D848E	ENST00000370801.3	37	c.2544	CCDS677.1	1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.235229	0.58886	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	D;D	0.96685	-4.09;-4.09	5.23	0.0825	0.14429	Zinc finger, ZZ-type (4);	0.000000	0.85682	D	0.000000	D	0.97216	0.9090	M	0.92026	3.265	0.53688	D	0.999975	B;D;B	0.89917	0.008;1.0;0.069	B;D;B	0.91635	0.011;0.999;0.043	D	0.95409	0.8496	10	0.87932	D	0	.	5.7543	0.18164	0.6808:0.0:0.2033:0.1159	.	354;848;847	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	E	848;354	ENSP00000359837:D848E;ENSP00000359834:D354E	ENSP00000359834:D354E	D	-	3	2	ZZZ3	77804377	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.369000	0.44231	0.056000	0.16144	0.533000	0.62120	GAT	-	pfam_Znf_ZZ,pfscan_Znf_ZZ		0.403	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZZ3	protein_coding	OTTHUMT00000026615.1	A	NM_015534	-		78031789	-1	no_errors	ENST00000370801	ensembl	human	known	74_37	missense	SNP	1.000	T
TBC1D1	23216	genome.wustl.edu	37	4	38104690	38104691	+	Frame_Shift_Ins	INS	-	-	C	rs142187678		TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr4:38104690_38104691insC	ENST00000261439.4	+	15	2824_2825	c.2469_2470insC	c.(2470-2472)cccfs	p.P824fs	TBC1D1_ENST00000508802.1_Frame_Shift_Ins_p.P918fs	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	824	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						AACACCAGTTTCCCAGCAAACA	0.45																																																	0								ENSG00000065882																																			TBC1D1	SO:0001589	frameshift_variant	0				HGNC	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.2472dupC	4.37:g.38104693_38104693dupC	ENSP00000261439:p.Pro824fs	Somatic	0	69	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	18	10.00	B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Frame_Shift_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.S824fs	ENST00000261439.4	37	c.2469_2470	CCDS33972.1	4																																																																																			-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.450	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D1	protein_coding	OTTHUMT00000317443.2	-	NM_015173			38104691	+1	no_errors	ENST00000261439	ensembl	human	known	74_37	frame_shift_ins	INS	0.998:0.997	C
CFAP44	55779	genome.wustl.edu	37	3	113098247	113098249	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	TCC	TCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr3:113098247_113098249delTCC	ENST00000295868.2	-	17	2364_2366	c.2202_2204delGGA	c.(2200-2205)gaggaa>gaa	p.734_735EE>E	WDR52_ENST00000475568.1_5'Flank|WDR52_ENST00000393845.2_In_Frame_Del_p.734_735EE>E	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TGGctcttcttcctcctcctcct	0.458																																																	0								ENSG00000206530																																			WDR52	SO:0001651	inframe_deletion	0				HGNC																												ENST00000295868.2:c.2202_2204delGGA	3.37:g.113098256_113098258delTCC	ENSP00000295868:p.Glu737del	Somatic	0	67	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00		In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E737in_frame_del	ENST00000295868.2	37	c.2204_2202	CCDS2972.1	3																																																																																			-	superfamily_WD40_repeat_dom		0.458	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR52	protein_coding	OTTHUMT00000354128.3	TCC				113098249	-1	no_errors	ENST00000393845	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-
LCP2	3937	genome.wustl.edu	37	5	169720342	169720342	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr5:169720342T>A	ENST00000046794.5	-	2	728	c.113A>T	c.(112-114)aAg>aTg	p.K38M		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	38	SAM.				blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		GATGTGGTACTTCTTCACTGC	0.517																																																	0								ENSG00000043462						134.0	136.0	135.0					5																	169720342		2022	4192	6214	LCP2	SO:0001583	missense	0			-	HGNC		CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"""SH2 domain containing"""	6529	protein-coding gene	gene with protein product	"""76 kDa tyrosine phosphoprotein"", ""SH2 domain-containing leukocyte protein of 76kD"""	601603	"""lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"""	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.113A>T	5.37:g.169720342T>A	ENSP00000046794:p.Lys38Met	Somatic	0	109	0.00		0.4993978748059094	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	22	31.25	A8KA25|Q53XV4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2	p.K38M	ENST00000046794.5	37	c.113	CCDS47339.1	5	.	.	.	.	.	.	.	.	.	.	T	19.64	3.865942	0.71949	.	.	ENSG00000043462	ENST00000046794	D	0.85258	-1.96	5.8	4.65	0.58169	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.125065	0.53938	D	0.000058	D	0.90448	0.7009	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89287	0.3616	9	.	.	.	-29.3543	8.5622	0.33518	0.0:0.0864:0.0:0.9136	.	38	Q13094	LCP2_HUMAN	M	38	ENSP00000046794:K38M	.	K	-	2	0	LCP2	169652920	0.981000	0.34729	0.854000	0.33618	0.825000	0.46686	2.124000	0.42006	1.030000	0.39839	0.533000	0.62120	AAG	-	pfam_SAM_2,superfamily_SAM/pointed,smart_SAM		0.517	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCP2	protein_coding	OTTHUMT00000371727.1	T	NM_005565	-		169720342	-1	no_errors	ENST00000046794	ensembl	human	known	74_37	missense	SNP	0.911	A
