#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	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_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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
HSD11B2	3291	broad.mit.edu	37	16	67469639	67469639	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr16:67469639G>A	ENST00000326152.5	+	2	506	c.374G>A	c.(373-375)cGt>cAt	p.R125H	ATP6V0D1_ENST00000567694.1_5'Flank|HSD11B2_ENST00000567684.2_3'UTR	NM_000196.3	NP_000187.3	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	125					female pregnancy (GO:0007565)|glucocorticoid biosynthetic process (GO:0006704)|regulation of blood volume by renal aldosterone (GO:0002017)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)	11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)|NAD binding (GO:0051287)|steroid binding (GO:0005496)			breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)		ATCGAGCTGCGTACCTGCTGC	0.597																																						ENST00000326152.5																			0				breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8						c.(373-375)cGt>cAt		hydroxysteroid (11-beta) dehydrogenase 2	NADH(DB00157)						64.0	47.0	53.0					16																	67469639		2198	4300	6498	SO:0001583	missense	3291				glucocorticoid biosynthetic process	endoplasmic reticulum|microsome		g.chr16:67469639G>A	U14631	CCDS10837.1	16q22	2011-09-14			ENSG00000176387	ENSG00000176387	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5209	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 3"""	614232				7859916, 8611140, 19027726	Standard	NM_000196		Approved	SDR9C3	uc002etd.3	P80365	OTTHUMG00000137507	ENST00000326152.5:c.374G>A	16.37:g.67469639G>A	ENSP00000316786:p.Arg125His					HSD11B2_ENST00000567684.2_3'UTR	p.R125H	NM_000196.3	NP_000187.3	P80365	DHI2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)	2	506	+		Ovarian(137;0.0563)	125					A7LB28|C5HTY7|Q13194|Q6P2G9|Q8N439|Q96QN8|Q9UC50|Q9UC51|Q9UCW5|Q9UCW6|Q9UCW7|Q9UCW8	Missense_Mutation	SNP	ENST00000326152.5	37	c.374G>A	CCDS10837.1	.	.	.	.	.	.	.	.	.	.	G	6.556	0.470825	0.12461	.	.	ENSG00000176387	ENST00000326152	D	0.93247	-3.19	5.37	4.4	0.53042	NAD(P)-binding domain (1);	0.171569	0.51477	D	0.000096	D	0.95903	0.8666	M	0.77313	2.365	0.46901	D	0.999245	D	0.89917	1.0	D	0.83275	0.996	D	0.95703	0.8751	10	0.87932	D	0	.	9.622	0.39727	0.0785:0.1452:0.7763:0.0	.	125	P80365	DHI2_HUMAN	H	125	ENSP00000316786:R125H	ENSP00000316786:R125H	R	+	2	0	HSD11B2	66027140	0.998000	0.40836	1.000000	0.80357	0.003000	0.03518	2.853000	0.48317	1.396000	0.46663	-0.175000	0.13238	CGT		0.597	HSD11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268826.3	NM_000196		13	28	0	0	0	1	0	13	28				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																54718							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		4	80	0	0	0	1	0	4	80				
NCAM2	4685	broad.mit.edu	37	21	22652929	22652929	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr21:22652929A>C	ENST00000400546.1	+	2	336	c.87A>C	c.(85-87)aaA>aaC	p.K29N	NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000535285.1_Missense_Mutation_p.K54N|NCAM2_ENST00000486367.1_3'UTR	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	29	Ig-like C2-type 1.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CACTTAGCAAAGTAGAGCTTA	0.303																																						ENST00000400546.1																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(85-87)aaA>aaC		neural cell adhesion molecule 2							67.0	63.0	64.0					21																	22652929		1798	4074	5872	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22652929A>C		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.87A>C	21.37:g.22652929A>C	ENSP00000383392:p.Lys29Asn					NCAM2_ENST00000535285.1_Missense_Mutation_p.K54N|NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000486367.1_3'UTR	p.K29N	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	2	336	+		Lung NSC(9;0.195)	29			Ig-like C2-type 1.		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.87A>C	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.700045	0.88924	.	.	ENSG00000154654	ENST00000400546;ENST00000535285	T;T	0.25414	1.8;1.8	5.73	5.73	0.89815	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.33235	0.0856	N	0.12443	0.215	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.27365	-1.0076	10	0.45353	T	0.12	-38.0146	14.8496	0.70286	1.0:0.0:0.0:0.0	.	54;29	B7Z841;O15394	.;NCAM2_HUMAN	N	29;54	ENSP00000383392:K29N;ENSP00000441887:K54N	ENSP00000383392:K29N	K	+	3	2	NCAM2	21574800	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.457000	0.45005	2.195000	0.70347	0.477000	0.44152	AAA		0.303	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		5	13	0	0	0	1	0	5	13				
LRRC4C	57689	broad.mit.edu	37	11	40137483	40137483	+	Silent	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr11:40137483G>A	ENST00000278198.2	-	2	2323	c.360C>T	c.(358-360)ttC>ttT	p.F120F	LRRC4C_ENST00000527150.1_Silent_p.F120F|LRRC4C_ENST00000528697.1_Silent_p.F120F|LRRC4C_ENST00000530763.1_Silent_p.F120F			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	120					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CCAGACCATTGAAAGCCCCAA	0.423																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(358-360)ttC>ttT		leucine rich repeat containing 4C							70.0	70.0	70.0					11																	40137483		2203	4300	6503	SO:0001819	synonymous_variant	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137483G>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.360C>T	11.37:g.40137483G>A						LRRC4C_ENST00000528697.1_Silent_p.F120F|LRRC4C_ENST00000527150.1_Silent_p.F120F|LRRC4C_ENST00000530763.1_Silent_p.F120F	p.F120F			Q9HCJ2	LRC4C_HUMAN			2	2323	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	120					A8K0T1|Q7L0N3	Silent	SNP	ENST00000278198.2	37	c.360C>T	CCDS31464.1																																																																																				0.423	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		14	41	0	0	0	1	0	14	41				
KANSL1	284058	broad.mit.edu	37	17	44144914	44144914	+	Splice_Site	SNP	C	C	T	rs281865470		TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr17:44144914C>T	ENST00000262419.6	-	5	2123		c.e5+1		KANSL1_ENST00000572904.1_Splice_Site|KANSL1_ENST00000432791.1_Splice_Site|KANSL1_ENST00000393476.3_Splice_Site|KANSL1_ENST00000574590.1_Splice_Site|KANSL1_ENST00000575318.1_Splice_Site	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1						chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.?(1)									CTAAAACTTACGTGTTAATAA	0.413																																						ENST00000262419.6																			1	Unknown(1)	p.?(1)	endometrium(1)								c.e5+1		KAT8 regulatory NSL complex subunit 1							116.0	103.0	107.0					17																	44144914		2203	4300	6503	SO:0001630	splice_region_variant	284058					MLL1 complex	protein binding	g.chr17:44144914C>T	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.1652+1G>A	17.37:g.44144914C>T						KANSL1_ENST00000393476.3_Splice_Site|KANSL1_ENST00000575318.1_Splice_Site|KANSL1_ENST00000574590.1_Splice_Site|KANSL1_ENST00000572904.1_Splice_Site|KANSL1_ENST00000432791.1_Splice_Site		NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN			5	2123	-								A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Splice_Site	SNP	ENST00000262419.6	37		CCDS11503.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.581379	0.65992	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5344	0.75990	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1267	41500736	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	5.286000	0.65639	2.432000	0.82394	0.655000	0.94253	.		0.413	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443	Intron	14	55	0	0	0	1	0	14	55				
NLRP8	126205	broad.mit.edu	37	19	56466411	56466411	+	Silent	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr19:56466411G>A	ENST00000291971.3	+	3	1058	c.987G>A	c.(985-987)acG>acA	p.T329T	NLRP8_ENST00000590542.1_Silent_p.T329T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	329	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.T329T(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CAGAGGCCACGCTACTGATCA	0.488																																						ENST00000291971.3																			1	Substitution - coding silent(1)	p.T329T(1)	haematopoietic_and_lymphoid_tissue(1)	breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(985-987)acG>acA		NLR family, pyrin domain containing 8							90.0	91.0	90.0					19																	56466411		2203	4300	6503	SO:0001819	synonymous_variant	126205					cytoplasm	ATP binding	g.chr19:56466411G>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.987G>A	19.37:g.56466411G>A						NLRP8_ENST00000590542.1_Silent_p.T329T	p.T329T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	1058	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	329			NACHT.		Q7RTR4	Silent	SNP	ENST00000291971.3	37	c.987G>A	CCDS12937.1																																																																																				0.488	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		18	84	0	0	0	1	0	18	84				
SLC22A11	55867	broad.mit.edu	37	11	64335222	64335222	+	Missense_Mutation	SNP	A	A	G	rs146493539		TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr11:64335222A>G	ENST00000301891.4	+	7	1584	c.1210A>G	c.(1210-1212)Atc>Gtc	p.I404V	SLC22A11_ENST00000377585.3_Intron|SLC22A11_ENST00000377581.3_Missense_Mutation_p.I404V	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	404					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	CCGCCGCACCATCCAGGCGGG	0.697													A|||	1	0.000199681	0.0008	0.0	5008	,	,		15875	0.0		0.0	False		,,,				2504	0.0					ENST00000301891.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(1210-1212)Atc>Gtc		solute carrier family 22 (organic anion/urate transporter), member 11	Probenecid(DB01032)	A	VAL/ILE	2,4400	4.2+/-10.8	0,2,2199	23.0	24.0	24.0		1210	2.0	0.0	11	dbSNP_134	24	0,8592		0,0,4296	no	missense	SLC22A11	NM_018484.2	29	0,2,6495	GG,GA,AA		0.0,0.0454,0.0154	benign	404/551	64335222	2,12992	2201	4296	6497	SO:0001583	missense	55867				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	g.chr11:64335222A>G	AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"""Solute carriers"""	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.1210A>G	11.37:g.64335222A>G	ENSP00000301891:p.Ile404Val					SLC22A11_ENST00000377581.3_Missense_Mutation_p.I404V|SLC22A11_ENST00000377585.3_Intron	p.I404V	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN			7	1584	+			404					A8K426|Q53GR2|Q6ZP72|Q8NBU4	Missense_Mutation	SNP	ENST00000301891.4	37	c.1210A>G	CCDS8074.1	.	.	.	.	.	.	.	.	.	.	A	8.681	0.905068	0.17760	4.54E-4	0.0	ENSG00000168065	ENST00000301891;ENST00000377581;ENST00000416590	T;T;T	0.73681	-0.77;-0.77;0.44	3.21	2.02	0.26589	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.481780	0.19793	U	0.105939	T	0.49830	0.1580	N	0.11106	0.095	0.09310	N	1	B;B	0.12013	0.002;0.005	B;B	0.15484	0.009;0.013	T	0.29181	-1.0020	10	0.19147	T	0.46	.	7.4522	0.27244	0.5553:0.4447:0.0:0.0	.	404;404	A6NCG2;Q9NSA0	.;S22AB_HUMAN	V	404;404;51	ENSP00000301891:I404V;ENSP00000366804:I404V;ENSP00000413508:I51V	ENSP00000301891:I404V	I	+	1	0	SLC22A11	64091798	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.319000	0.19522	0.415000	0.25817	0.414000	0.27820	ATC		0.697	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484		8	27	0	0	0	1	0	8	27				
STXBP5	134957	broad.mit.edu	37	6	147648386	147648386	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr6:147648386C>T	ENST00000321680.6	+	18	2054	c.2054C>T	c.(2053-2055)cCt>cTt	p.P685L	STXBP5_ENST00000367481.3_Missense_Mutation_p.P685L|STXBP5_ENST00000367480.3_Missense_Mutation_p.P685L|STXBP5_ENST00000179882.6_Missense_Mutation_p.P356L	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	685					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		CCCCGATCTCCTCGTAAATCT	0.398																																						ENST00000367481.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(2053-2055)cCt>cTt		syntaxin binding protein 5 (tomosyn)							91.0	87.0	88.0					6																	147648386		2203	4300	6503	SO:0001583	missense	134957				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147648386C>T	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.2054C>T	6.37:g.147648386C>T	ENSP00000321826:p.Pro685Leu					STXBP5_ENST00000321680.6_Missense_Mutation_p.P685L|STXBP5_ENST00000367480.3_Missense_Mutation_p.P685L|STXBP5_ENST00000179882.6_Missense_Mutation_p.P356L	p.P685L	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	18	2162	+		Ovarian(120;0.0164)	685					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.2054C>T	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	C	35	5.415269	0.96092	.	.	ENSG00000164506	ENST00000367479;ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882;ENST00000392291	T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.49304	0.1549	M	0.81112	2.525	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.998	T	0.30001	-0.9993	10	0.36615	T	0.2	.	20.6525	0.99598	0.0:1.0:0.0:0.0	.	685;26;685;356	Q5T5C0-2;Q5JRH1;Q5T5C0;B3KXX0	.;.;STXB5_HUMAN;.	L	32;685;685;685;356;17	ENSP00000356451:P685L;ENSP00000321826:P685L;ENSP00000356450:P685L;ENSP00000179882:P356L;ENSP00000376112:P17L	ENSP00000179882:P356L	P	+	2	0	STXBP5	147690079	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.890000	0.99128	0.585000	0.79938	CCT		0.398	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			10	34	0	0	0	1	0	10	34				
FAM24A	118670	broad.mit.edu	37	10	124672390	124672390	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr10:124672390C>T	ENST00000368894.1	+	3	359	c.238C>T	c.(238-240)Cag>Tag	p.Q80*		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	80						extracellular region (GO:0005576)				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		TCCATCTCTCCAGTGCTGTGA	0.522																																						ENST00000368894.1																			0				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(238-240)Cag>Tag		family with sequence similarity 24, member A							173.0	124.0	141.0					10																	124672390		2203	4300	6503	SO:0001587	stop_gained	118670					extracellular region		g.chr10:124672390C>T		CCDS31304.1	10q26.13	2008-08-27			ENSG00000203795	ENSG00000203795			23470	protein-coding gene	gene with protein product							Standard	NM_001029888		Approved	AC073585.4	uc001lgv.3	A6NFZ4	OTTHUMG00000019193	ENST00000368894.1:c.238C>T	10.37:g.124672390C>T	ENSP00000357889:p.Gln80*						p.Q80*	NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)	3	359	+		all_neural(114;0.169)|Glioma(114;0.222)	80						Nonsense_Mutation	SNP	ENST00000368894.1	37	c.238C>T	CCDS31304.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.952394	0.34471	.	.	ENSG00000203795	ENST00000368894	.	.	.	3.46	2.54	0.30619	.	0.895813	0.09223	N	0.831658	.	.	.	.	.	.	0.41362	D	0.987432	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	8.2166	0.31516	0.2375:0.7625:0.0:0.0	.	.	.	.	X	80	.	ENSP00000357889:Q80X	Q	+	1	0	FAM24A	124662380	0.001000	0.12720	0.004000	0.12327	0.029000	0.11900	0.422000	0.21296	1.006000	0.39211	0.561000	0.74099	CAG		0.522	FAM24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050824.1	XM_058332		23	57	0	0	0	1	0	23	57				
TBL1X	6907	broad.mit.edu	37	X	9679711	9679711	+	Silent	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chrX:9679711G>A	ENST00000217964.7	+	16	2140	c.1500G>A	c.(1498-1500)acG>acA	p.T500T	TBL1X_ENST00000407597.2_Silent_p.T500T|TBL1X_ENST00000424279.1_Silent_p.T449T|TBL1X_ENST00000380961.1_Silent_p.T449T|TBL1X_ENST00000536365.1_Silent_p.T449T	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	500					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				GCACCCACACGCTCACGAAGC	0.517																																						ENST00000217964.7																			0				breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20						c.(1498-1500)acG>acA		transducin (beta)-like 1X-linked							152.0	103.0	120.0					X																	9679711		2203	4300	6503	SO:0001819	synonymous_variant	6907				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:9679711G>A	Y12781	CCDS14133.1, CCDS48078.1	Xp22.3	2013-01-10	2002-05-22	2002-05-24	ENSG00000101849	ENSG00000101849		"""WD repeat domain containing"""	11585	protein-coding gene	gene with protein product		300196	"""transducin (beta)-like 1"""	TBL1		10330347	Standard	NM_005647		Approved	EBI	uc004csr.3	O60907	OTTHUMG00000021117	ENST00000217964.7:c.1500G>A	X.37:g.9679711G>A						TBL1X_ENST00000536365.1_Silent_p.T449T|TBL1X_ENST00000407597.2_Silent_p.T500T|TBL1X_ENST00000380961.1_Silent_p.T449T|TBL1X_ENST00000424279.1_Silent_p.T449T	p.T500T	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN			16	2140	+		Hepatocellular(5;0.000888)	500					A8K044|A8K4J7|Q86UY2	Silent	SNP	ENST00000217964.7	37	c.1500G>A	CCDS14133.1																																																																																				0.517	TBL1X-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055709.1	NM_005647		10	28	0	0	0	1	0	10	28				
PTCHD2	57540	broad.mit.edu	37	1	11561057	11561057	+	Missense_Mutation	SNP	C	C	A	rs201953977	byFrequency	TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr1:11561057C>A	ENST00000294484.6	+	2	146	c.8C>A	c.(7-9)aCg>aAg	p.T3K	PTCHD2_ENST00000389575.3_Missense_Mutation_p.T3K	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	3					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		ACTATGGACACGGAGGATGAC	0.607																																						ENST00000294484.6																			0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(7-9)aCg>aAg		patched domain containing 2							53.0	58.0	56.0					1																	11561057		2029	4173	6202	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11561057C>A	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.8C>A	1.37:g.11561057C>A	ENSP00000294484:p.Thr3Lys					PTCHD2_ENST00000389575.3_Missense_Mutation_p.T3K	p.T3K	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	2	146	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	3					Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.8C>A	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	C	4.827	0.153713	0.09185	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.22945	1.93;1.93	5.78	3.57	0.40892	.	1.785210	0.04216	U	0.332728	T	0.23133	0.0559	N	0.14661	0.345	0.09310	N	1	B	0.19073	0.033	B	0.19946	0.027	T	0.45687	-0.9244	10	0.72032	D	0.01	-0.9802	15.6576	0.77155	0.0:0.8561:0.0:0.1439	.	3	Q9P2K9	PTHD2_HUMAN	K	3	ENSP00000294484:T3K;ENSP00000374226:T3K	ENSP00000294484:T3K	T	+	2	0	PTCHD2	11483644	0.119000	0.22226	0.007000	0.13788	0.194000	0.23727	2.833000	0.48159	0.800000	0.34041	-1.119000	0.02030	ACG		0.607	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		8	37	1	0	0.307466	1	0.307466	8	37				
NEK11	79858	broad.mit.edu	37	3	130889682	130889682	+	Silent	SNP	C	C	T	rs369452144		TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr3:130889682C>T	ENST00000510769.1	+	10	1288	c.1035C>T	c.(1033-1035)caC>caT	p.H345H	NEK11_ENST00000429253.2_Silent_p.H450H|NEK11_ENST00000508196.1_Silent_p.H450H|NEK11_ENST00000383366.4_Silent_p.H450H|NEK11_ENST00000507910.1_Silent_p.H450H|NEK11_ENST00000511262.1_Silent_p.H450H|NEK11_ENST00000510688.1_Silent_p.H450H|NEK11_ENST00000412440.2_Silent_p.H266H|NEK11_ENST00000356918.4_Silent_p.H450H					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						TGGACCTCCACGAACTTGAAT	0.443																																						ENST00000383366.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						c.(1348-1350)caC>caT		NIMA-related kinase 11							189.0	169.0	176.0					3																	130889682		2203	4300	6503	SO:0001819	synonymous_variant	79858				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:130889682C>T	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.1035C>T	3.37:g.130889682C>T						NEK11_ENST00000510769.1_Silent_p.H345H|NEK11_ENST00000429253.2_Silent_p.H450H|NEK11_ENST00000511262.1_Silent_p.H450H|NEK11_ENST00000356918.4_Silent_p.H450H|NEK11_ENST00000508196.1_Silent_p.H450H|NEK11_ENST00000412440.2_Silent_p.H266H|NEK11_ENST00000507910.1_Silent_p.H450H|NEK11_ENST00000510688.1_Silent_p.H450H	p.H450H	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN			14	1643	+			450						Silent	SNP	ENST00000510769.1	37	c.1350C>T																																																																																					0.443	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356757.1	NM_024800		20	79	0	0	0	1	0	20	79				
DNAJC5G	285126	broad.mit.edu	37	2	27500827	27500827	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr2:27500827C>T	ENST00000296097.3	+	4	737	c.319C>T	c.(319-321)Cac>Tac	p.H107Y	DNAJC5G_ENST00000406962.1_Intron|DNAJC5G_ENST00000404433.1_Missense_Mutation_p.H91Y|DNAJC5G_ENST00000402462.1_Missense_Mutation_p.H107Y|SLC30A3_ENST00000447008.2_5'Flank	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	107						membrane (GO:0016020)				cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGTATGATCACTTTGGTGA	0.398																																						ENST00000296097.3																			0				cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10						c.(319-321)Cac>Tac		DnaJ (Hsp40) homolog, subfamily C, member 5 gamma							84.0	81.0	82.0					2																	27500827		2203	4300	6503	SO:0001583	missense	285126				protein folding	membrane	heat shock protein binding|unfolded protein binding	g.chr2:27500827C>T	AF368277	CCDS1744.1	2p23	2011-09-02			ENSG00000163793	ENSG00000163793		"""Heat shock proteins / DNAJ (HSP40)"""	24844	protein-coding gene	gene with protein product		613946					Standard	NM_173650		Approved	FLJ40417, CSP-gamma	uc002rjl.1	Q8N7S2	OTTHUMG00000097079	ENST00000296097.3:c.319C>T	2.37:g.27500827C>T	ENSP00000296097:p.His107Tyr					DNAJC5G_ENST00000406962.1_Intron|DNAJC5G_ENST00000404433.1_Missense_Mutation_p.H91Y|DNAJC5G_ENST00000402462.1_Missense_Mutation_p.H107Y	p.H107Y	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN			4	737	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		107					B4DY29|Q53SY5|Q8IYQ4|Q96RJ8	Missense_Mutation	SNP	ENST00000296097.3	37	c.319C>T	CCDS1744.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.453269	0.84209	.	.	ENSG00000163793	ENST00000296097;ENST00000402462;ENST00000404433	T;T;T	0.58940	1.2;1.2;0.3	5.1	5.1	0.69264	.	0.232106	0.29995	N	0.010678	T	0.51363	0.1670	L	0.50333	1.59	0.80722	D	1	P	0.49185	0.92	B	0.37650	0.255	T	0.60520	-0.7247	10	0.62326	D	0.03	.	16.019	0.80468	0.0:1.0:0.0:0.0	.	107	Q8N7S2	DNJ5G_HUMAN	Y	107;107;91	ENSP00000296097:H107Y;ENSP00000384305:H107Y;ENSP00000385829:H91Y	ENSP00000296097:H107Y	H	+	1	0	DNAJC5G	27354331	1.000000	0.71417	0.836000	0.33094	0.905000	0.53344	7.617000	0.83032	2.372000	0.80975	0.563000	0.77884	CAC		0.398	DNAJC5G-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214200.1	NM_173650		5	76	0	0	0	1	0	5	76				
GLRA4	441509	broad.mit.edu	37	X	102979121	102979121	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chrX:102979121T>A	ENST00000372617.4	-	4	799	c.379A>T	c.(379-381)Atc>Ttc	p.I127F	GLRA4_ENST00000469567.1_5'Flank	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	127						cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GGCTTCCAGATAGAGTCCAGC	0.507																																						ENST00000372617.4																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(379-381)Atc>Ttc		glycine receptor, alpha 4							144.0	143.0	143.0					X																	102979121		2146	4277	6423	SO:0001583	missense	441509					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:102979121T>A	Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"""Ligand-gated ion channels / Glycine receptors"""	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.379A>T	X.37:g.102979121T>A	ENSP00000361700:p.Ile127Phe						p.I127F	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN			4	799	-			127						Missense_Mutation	SNP	ENST00000372617.4	37	c.379A>T	CCDS43980.2	.	.	.	.	.	.	.	.	.	.	T	20.4	3.984371	0.74474	.	.	ENSG00000188828	ENST00000372617	D	0.84730	-1.89	5.17	5.17	0.71159	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.88351	0.6413	M	0.77486	2.375	0.58432	D	0.999999	P;B	0.44260	0.83;0.295	P;B	0.49085	0.6;0.259	D	0.89478	0.3748	10	0.87932	D	0	.	11.8934	0.52644	0.0:0.0:0.0:1.0	.	127;86	Q5JXX5;B9WSA6	GLRA4_HUMAN;.	F	127	ENSP00000361700:I127F	ENSP00000361700:I127F	I	-	1	0	GLRA4	102865777	1.000000	0.71417	0.991000	0.47740	0.975000	0.68041	8.040000	0.89188	1.710000	0.51325	0.417000	0.27973	ATC		0.507	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057742.2	NM_001024452		39	117	0	0	0	1	0	39	117				
MND1	84057	broad.mit.edu	37	4	154271221	154271221	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr4:154271221G>C	ENST00000240488.3	+	2	98	c.9G>C	c.(7-9)aaG>aaC	p.K3N	MND1_ENST00000504860.1_5'UTR|MND1_ENST00000503967.1_3'UTR	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1			meiotic nuclear divisions 1 homolog (S. cerevisiae)											large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					TTTAGTCAAAGAAAAAAGGAC	0.279																																						ENST00000240488.3																			0				large_intestine(2)|lung(1)	3						c.(7-9)aaG>aaC		meiotic nuclear divisions 1 homolog (S. cerevisiae)							69.0	76.0	73.0					4																	154271221		2203	4300	6503	SO:0001583	missense	84057				DNA recombination|meiosis	nucleus	DNA binding	g.chr4:154271221G>C	AY028916	CCDS3782.1, CCDS75202.1	4q31.3	2008-02-05			ENSG00000121211	ENSG00000121211			24839	protein-coding gene	gene with protein product		611422				11940665	Standard	NM_032117		Approved	GAJ	uc003ink.2	Q9BWT6	OTTHUMG00000161523	ENST00000240488.3:c.9G>C	4.37:g.154271221G>C	ENSP00000240488:p.Lys3Asn					MND1_ENST00000504860.1_5'UTR|MND1_ENST00000503967.1_3'UTR	p.K3N	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1	Q9BWT6	MND1_HUMAN			2	98	+	all_hematologic(180;0.093)		3						Missense_Mutation	SNP	ENST00000240488.3	37	c.9G>C	CCDS3782.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692787	0.68271	.	.	ENSG00000121211	ENST00000240488	.	.	.	5.6	5.6	0.85130	.	0.086428	0.85682	D	0.000000	T	0.81113	0.4755	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.83865	0.0270	9	0.66056	D	0.02	-23.797	12.5594	0.56273	0.0765:0.0:0.9235:0.0	.	3	Q9BWT6	MND1_HUMAN	N	3	.	ENSP00000240488:K3N	K	+	3	2	MND1	154490671	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.063000	0.57499	2.627000	0.88993	0.655000	0.94253	AAG		0.279	MND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365194.2	NM_032117		34	31	0	0	0	1	0	34	31				
EPHA10	284656	broad.mit.edu	37	1	38227318	38227318	+	Silent	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr1:38227318C>T	ENST00000373048.4	-	3	608	c.609G>A	c.(607-609)tcG>tcA	p.S203S	EPHA10_ENST00000427468.2_Silent_p.S203S|EPHA10_ENST00000319637.6_Silent_p.S203S	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	203	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGACGCGCACCGAGACAAGCG	0.667																																						ENST00000373048.4																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(607-609)tcG>tcA		EPH receptor A10							26.0	32.0	30.0					1																	38227318		2202	4297	6499	SO:0001819	synonymous_variant	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38227318C>T	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.609G>A	1.37:g.38227318C>T						EPHA10_ENST00000319637.6_Silent_p.S203S|EPHA10_ENST00000427468.2_Silent_p.S203S	p.S203S	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN			3	608	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	203					A4FU89|J3KPB5|Q6NW42	Silent	SNP	ENST00000373048.4	37	c.609G>A	CCDS41305.1																																																																																				0.667	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		8	36	0	0	0	1	0	8	36				
SUCO	51430	broad.mit.edu	37	1	172558148	172558148	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr1:172558148G>T	ENST00000263688.3	+	18	2126	c.1907G>T	c.(1906-1908)tGg>tTg	p.W636L	SUCO_ENST00000608151.1_Missense_Mutation_p.W788L|SUCO_ENST00000367723.4_Missense_Mutation_p.W787L|SUCO_ENST00000610051.1_Intron	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	636					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											ATATATAAATGGTGTTCAGTT	0.383																																						ENST00000367723.3																			0											c.(2362-2364)tGg>tTg		SUN domain containing ossification factor							70.0	75.0	74.0					1																	172558148		2203	4299	6502	SO:0001583	missense	51430							g.chr1:172558148G>T	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.1907G>T	1.37:g.172558148G>T	ENSP00000263688:p.Trp636Leu					SUCO_ENST00000263688.3_Missense_Mutation_p.W636L	p.W788L	NM_016227.2	NP_057311.2					17	2487	+								B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	c.2363G>T	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249580	0.39797	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.45	5.45	0.79879	.	0.286352	0.42682	D	0.000680	T	0.49813	0.1579	M	0.69823	2.125	0.53005	D	0.999968	B;B;B	0.18461	0.009;0.005;0.028	B;B;B	0.15052	0.012;0.01;0.01	T	0.55823	-0.8080	9	0.07990	T	0.79	-1.4456	17.8492	0.88740	0.0:0.0:1.0:0.0	.	636;788;636	B4DZJ3;Q5H945;Q9UBS9	.;.;OSPT_HUMAN	L	788;636	.	ENSP00000263688:W636L	W	+	2	0	C1orf9	170824771	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.610000	0.67668	2.547000	0.85894	0.563000	0.77884	TGG		0.383	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		8	32	1	0	0.0381472	1	0.0386662	8	32				
ZNF562	54811	broad.mit.edu	37	19	9768731	9768731	+	Silent	SNP	G	G	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr19:9768731G>C	ENST00000448622.1	-	4	357	c.195C>G	c.(193-195)ctC>ctG	p.L65L	ZNF562_ENST00000590155.1_Silent_p.L65L|ZNF562_ENST00000541032.1_Silent_p.L28L|ZNF562_ENST00000587392.1_Silent_p.L65L|ZNF562_ENST00000453792.2_5'UTR|ZNF562_ENST00000537617.1_Intron|ZNF562_ENST00000453372.2_Silent_p.L65L|ZNF562_ENST00000293648.4_Intron	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	65	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						CATCTCTGTAGAGGTATTTCT	0.488																																						ENST00000448622.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(193-195)ctC>ctG		zinc finger protein 562							93.0	85.0	87.0					19																	9768731		692	1591	2283	SO:0001819	synonymous_variant	54811				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9768731G>C	AK000086	CCDS12217.1, CCDS45956.1, CCDS74280.1	19p13.2	2013-09-20			ENSG00000171466	ENSG00000171466		"""Zinc fingers, C2H2-type"", ""-"""	25950	protein-coding gene	gene with protein product							Standard	NM_001130031		Approved	FLJ20079	uc010xks.2	Q6V9R5	OTTHUMG00000180205	ENST00000448622.1:c.195C>G	19.37:g.9768731G>C						ZNF562_ENST00000541032.1_Silent_p.L28L|ZNF562_ENST00000587392.1_Silent_p.L65L|ZNF562_ENST00000590155.1_Silent_p.L65L|ZNF562_ENST00000453792.2_5'UTR|ZNF562_ENST00000537617.1_Intron|ZNF562_ENST00000453372.2_Silent_p.L65L|ZNF562_ENST00000293648.4_Intron	p.L65L	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN			4	357	-			65			KRAB.		Q32MN2|Q9NXS5	Silent	SNP	ENST00000448622.1	37	c.195C>G	CCDS45956.1																																																																																				0.488	ZNF562-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450239.1	NM_017656		6	23	0	0	0	1	0	6	23				
LRCH4	4034	broad.mit.edu	37	7	100173369	100173369	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr7:100173369C>T	ENST00000310300.6	-	17	1865	c.1813G>A	c.(1813-1815)Gag>Aag	p.E605K	LRCH4_ENST00000497245.1_Missense_Mutation_p.E153K|SAP25_ENST00000538735.1_5'Flank	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	605	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				nervous system development (GO:0007399)	PML body (GO:0016605)				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGAAAACTCTCCACATTCTTC	0.572																																						ENST00000310300.6																			0				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(1813-1815)Gag>Aag		leucine-rich repeats and calponin homology (CH) domain containing 4							164.0	170.0	168.0					7																	100173369		2203	4300	6503	SO:0001583	missense	4034				nervous system development	PML body	protein binding	g.chr7:100173369C>T	AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.1813G>A	7.37:g.100173369C>T	ENSP00000309689:p.Glu605Lys					LRCH4_ENST00000497245.1_Missense_Mutation_p.E153K	p.E605K	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN			17	1865	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		605			CH.		A4D2D5|Q8WV85|Q96ID0	Missense_Mutation	SNP	ENST00000310300.6	37	c.1813G>A	CCDS34706.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.067002|5.067002	0.93898|0.93898	.|.	.|.	ENSG00000077454|ENSG00000077454	ENST00000310300;ENST00000422462;ENST00000497245|ENST00000485554	D;D|.	0.95035|.	-3.59;-3.59|.	4.4|4.4	4.4|4.4	0.53042|0.53042	Calponin homology domain (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.62950|.	0.2470|.	L|L	0.49571|0.49571	1.57|1.57	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.998|.	D;D|.	0.67725|.	0.949;0.953|.	T|.	0.60591|.	-0.7233|.	10|.	0.87932|.	D|.	0|.	-24.9222|-24.9222	14.9144|14.9144	0.70785|0.70785	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	153;605|.	C9JYK0;O75427|.	.;LRCH4_HUMAN|.	K|X	605;64;153|129	ENSP00000309689:E605K;ENSP00000419870:E153K|.	ENSP00000309689:E605K|.	E|W	-|-	1|3	0|0	LRCH4|LRCH4	100011305|100011305	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.165000|5.165000	0.64959|0.64959	2.463000|2.463000	0.83235|0.83235	0.555000|0.555000	0.69702|0.69702	GAG|TGG		0.572	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356110.1	NM_002319		62	134	0	0	0	1	0	62	134				
CD44	960	broad.mit.edu	37	11	35219730	35219730	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr11:35219730G>A	ENST00000428726.2	+	7	982	c.859G>A	c.(859-861)Gac>Aac	p.D287N	CD44_ENST00000433354.2_Missense_Mutation_p.D287N|CD44_ENST00000263398.6_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.D287N|CD44_ENST00000526669.2_Intron|CD44_ENST00000360158.4_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000437706.2_Missense_Mutation_p.D287N|CD44_ENST00000528922.1_3'UTR|CD44_ENST00000352818.4_Intron|CD44_ENST00000433892.2_Intron|CD44_ENST00000415148.2_Missense_Mutation_p.D244N|CD44_ENST00000434472.2_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	287	Stem.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	AGATGAAAGAGACAGACACCT	0.423																																						ENST00000428726.2																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23						c.(859-861)Gac>Aac		CD44 molecule (Indian blood group)	Hyaluronidase(DB00070)						105.0	99.0	101.0					11																	35219730		2202	4298	6500	SO:0001583	missense	960				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity	g.chr11:35219730G>A	M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"""CD molecules"", ""Blood group antigens"", ""Proteoglycans / Cell surface : Other"""	1681	protein-coding gene	gene with protein product	"""hematopoietic cell E- and L-selectin ligand"", ""chondroitin sulfate proteoglycan 8"""	107269	"""CD44 antigen (homing function and Indian blood group system)"""	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.859G>A	11.37:g.35219730G>A	ENSP00000398632:p.Asp287Asn					CD44_ENST00000360158.4_Intron|CD44_ENST00000437706.2_Missense_Mutation_p.D287N|CD44_ENST00000434472.2_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.D287N|CD44_ENST00000433354.2_Missense_Mutation_p.D287N|CD44_ENST00000415148.2_Missense_Mutation_p.D244N|CD44_ENST00000352818.4_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000526669.2_Intron|CD44_ENST00000433892.2_Intron|CD44_ENST00000528922.1_3'UTR|CD44_ENST00000263398.6_Intron	p.D287N	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		7	982	+	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	287			Stem.		A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Missense_Mutation	SNP	ENST00000428726.2	37	c.859G>A	CCDS7897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.86|18.86	3.713247|3.713247	0.68730|0.68730	.|.	.|.	ENSG00000026508|ENSG00000026508	ENST00000415148;ENST00000433354;ENST00000449691;ENST00000437706;ENST00000428726;ENST00000525688;ENST00000533222|ENST00000524922	T;T;T;T;T;T;T|T	0.26957|0.28666	1.7;1.7;1.7;1.7;1.7;1.7;1.7|1.6	4.8|4.8	4.8|4.8	0.61643|0.61643	.|.	0.264049|.	0.32134|.	N|.	0.006534|.	T|T	0.38268|0.38268	0.1034|0.1034	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	D;P|.	0.57257|.	0.979;0.457|.	P;B|.	0.58820|.	0.846;0.227|.	T|T	0.02774|0.02774	-1.1112|-1.1112	10|7	0.12766|0.30854	T|T	0.61|0.27	-16.6422|-16.6422	13.5524|13.5524	0.61740|0.61740	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	244;287|.	P16070-4;P16070|.	.;CD44_HUMAN|.	N|K	244;287;287;287;287;83;77|31	ENSP00000389830:D244N;ENSP00000414567:D287N;ENSP00000391008:D287N;ENSP00000403990:D287N;ENSP00000398632:D287N;ENSP00000436980:D83N;ENSP00000435321:D77N|ENSP00000436451:R31K	ENSP00000389830:D244N|ENSP00000436451:R31K	D|R	+|+	1|2	0|0	CD44|CD44	35176306|35176306	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	2.697000|2.697000	0.47060|0.47060	2.658000|2.658000	0.90341|0.90341	0.561000|0.561000	0.74099|0.74099	GAC|AGA		0.423	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610		3	38	0	0	0	1	0	3	38				
IL18RAP	8807	broad.mit.edu	37	2	103063602	103063602	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr2:103063602A>G	ENST00000264260.2	+	10	1734	c.1145A>G	c.(1144-1146)tAc>tGc	p.Y382C	IL18RAP_ENST00000409369.1_Missense_Mutation_p.Y240C	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	382					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GCCCTCCTCTACAGGCACTGG	0.572																																						ENST00000264260.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(1144-1146)tAc>tGc		interleukin 18 receptor accessory protein							143.0	146.0	145.0					2																	103063602		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103063602A>G	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1145A>G	2.37:g.103063602A>G	ENSP00000264260:p.Tyr382Cys					IL18RAP_ENST00000409369.1_Missense_Mutation_p.Y240C	p.Y382C	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN			10	1734	+			382					B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.1145A>G	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	A	12.47	1.946488	0.34377	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.23147	1.92;1.92	6.05	2.42	0.29668	.	0.253091	0.28376	N	0.015574	T	0.21227	0.0511	L	0.58101	1.795	0.29644	N	0.844459	B	0.23185	0.081	B	0.20384	0.029	T	0.12167	-1.0558	10	0.38643	T	0.18	.	5.1803	0.15156	0.7276:0.0:0.14:0.1324	.	382	O95256	I18RA_HUMAN	C	382;240	ENSP00000264260:Y382C;ENSP00000387201:Y240C	ENSP00000264260:Y382C	Y	+	2	0	IL18RAP	102430034	0.989000	0.36119	0.729000	0.30791	0.028000	0.11728	2.934000	0.48956	0.511000	0.28236	0.528000	0.53228	TAC		0.572	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		38	116	0	0	0	1	0	38	116				
PCDHB6	56130	broad.mit.edu	37	5	140532066	140532066	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr5:140532066T>C	ENST00000231136.1	+	1	2228	c.2228T>C	c.(2227-2229)cTa>cCa	p.L743P	PCDHB6_ENST00000543635.1_Missense_Mutation_p.L607P	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	743					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCGGGACCCTATCCCAGAGC	0.612																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(2227-2229)cTa>cCa									124.0	134.0	131.0					5																	140532066		2202	4300	6502	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140532066T>C	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.2228T>C	5.37:g.140532066T>C	ENSP00000231136:p.Leu743Pro					PCDHB6_ENST00000543635.1_Missense_Mutation_p.L607P	p.L743P	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2228	+			743					B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.2228T>C	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	T	18.41	3.617217	0.66672	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.58060	0.36;0.41	4.45	4.45	0.53987	.	.	.	.	.	T	0.79167	0.4400	H	0.94847	3.59	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.85227	0.1030	9	0.72032	D	0.01	.	13.7159	0.62695	0.0:0.0:0.0:1.0	.	743	Q9Y5E3	PCDB6_HUMAN	P	607;743	ENSP00000438466:L607P;ENSP00000231136:L743P	ENSP00000231136:L743P	L	+	2	0	PCDHB6	140512250	0.097000	0.21791	0.999000	0.59377	0.706000	0.40770	2.898000	0.48672	1.775000	0.52247	0.454000	0.30748	CTA		0.612	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		68	95	0	0	0	1	0	68	95				
CYP1A1	1543	broad.mit.edu	37	15	75013358	75013358	+	Silent	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr15:75013358G>A	ENST00000379727.3	-	6	1401	c.1203C>T	c.(1201-1203)atC>atT	p.I401I	CYP1A1_ENST00000567032.1_Silent_p.I401I|CYP1A1_ENST00000395048.2_Silent_p.I401I|CYP1A1_ENST00000395049.4_Intron|CYP1A1_ENST00000564596.1_Silent_p.I140I			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	401					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	GCCCCTTGGGGATGTAAAAGC	0.507									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																													ENST00000379727.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1201-1203)atC>atT		cytochrome P450, family 1, subfamily A, polypeptide 1	Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)						138.0	137.0	137.0					15																	75013358		2197	4296	6493	SO:0001819	synonymous_variant	1543	Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	g.chr15:75013358G>A	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"""Cytochrome P450s"""	2595	protein-coding gene	gene with protein product		108330	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"""	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.1203C>T	15.37:g.75013358G>A						CYP1A1_ENST00000567032.1_Silent_p.I401I|CYP1A1_ENST00000395048.2_Silent_p.I401I|CYP1A1_ENST00000395049.4_Intron|CYP1A1_ENST00000564596.1_Silent_p.I140I	p.I401I			P04798	CP1A1_HUMAN			6	1401	-			401					A4F3V9|A4F3W0|Q53G18	Silent	SNP	ENST00000379727.3	37	c.1203C>T	CCDS10268.1																																																																																				0.507	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	NM_000499		22	78	0	0	0	1	0	22	78				
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		555	Substitution - Missense(555)	p.E542K(545)|p.E542Q(10)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1624-1626)Gaa>Aaa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							56.0	56.0	56.0					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936082G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E542K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1781	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		542		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1624G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			11	32	0	0	0	1	0	11	32				
ATF4P4	100127952	broad.mit.edu	37	11	113661018	113661018	+	RNA	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr11:113661018G>A	ENST00000393544.2	+	0	1066									activating transcription factor 4 pseudogene 4																		CACATTCCTCGATTCCAGCAA	0.572																																						ENST00000393544.2																			0																																																			100127952							g.chr11:113661018G>A			11q23.2	2011-09-02	2010-12-16	2010-12-16	ENSG00000256167	ENSG00000256167			787	pseudogene	pseudogene			"""activating transcription factor 4B"""	ATF4B		10610718	Standard	NG_021835		Approved				OTTHUMG00000168194		11.37:g.113661018G>A														0	1066	+									RNA	SNP	ENST00000393544.2	37																																																																																						0.572	ATF4P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000398707.1	NG_021835		11	41	0	0	0	1	0	11	41				
FLG	2312	broad.mit.edu	37	1	152276430	152276430	+	Silent	SNP	G	G	A	rs369652769		TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr1:152276430G>A	ENST00000368799.1	-	3	10967	c.10932C>T	c.(10930-10932)caC>caT	p.H3644H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3644	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGCTTGTCCGTGCCCAATGC	0.547									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(10930-10932)caC>caT		filaggrin		G		0,4248		0,0,2124	83.0	75.0	77.0		10932	-9.2	0.0	1		77	2,8390		0,2,4194	no	coding-synonymous	FLG	NM_002016.1		0,2,6318	AA,AG,GG		0.0238,0.0,0.0158		3644/4062	152276430	2,12638	2124	4196	6320	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152276430G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10932C>T	1.37:g.152276430G>A						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.H3644H	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10967	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3644			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.10932C>T	CCDS30860.1																																																																																				0.547	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		88	299	0	0	0	1	0	88	299				
MUC16	94025	broad.mit.edu	37	19	9020030	9020030	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr19:9020030C>T	ENST00000397910.4	-	21	37668	c.37465G>A	c.(37465-37467)Gag>Aag	p.E12489K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12491	SEA 3. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGCCCAGCTCTTTGATGCCA	0.517																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(37465-37467)Gag>Aag		mucin 16, cell surface associated							233.0	202.0	212.0					19																	9020030		1963	4148	6111	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9020030C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.37465G>A	19.37:g.9020030C>T	ENSP00000381008:p.Glu12489Lys						p.E12489K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			21	37668	-			12491			SEA 3.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.37465G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	10.10	1.256606	0.22965	.	.	ENSG00000181143	ENST00000397910	T	0.28454	1.61	3.32	-4.27	0.03744	.	.	.	.	.	T	0.27134	0.0665	M	0.72479	2.2	.	.	.	B	0.20988	0.05	B	0.15870	0.014	T	0.42949	-0.9421	8	0.87932	D	0	.	5.6909	0.17829	0.0:0.1804:0.2647:0.5549	.	12489	B5ME49	.	K	12489	ENSP00000381008:E12489K	ENSP00000381008:E12489K	E	-	1	0	MUC16	8881030	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.981000	0.03766	-0.377000	0.07930	-0.266000	0.10368	GAG		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		37	132	0	0	0	1	0	37	132				
RAPGEF4	11069	broad.mit.edu	37	2	173853508	173853508	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr2:173853508C>G	ENST00000397081.3	+	14	1458	c.1315C>G	c.(1315-1317)Cga>Gga	p.R439G	RAPGEF4_ENST00000538974.1_Missense_Mutation_p.R268G|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.R286G|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.R286G|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.R438G|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.R295G|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.R439G|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.R219G	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	439					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TATCGTCTTACGAGAAGATAA	0.488																																						ENST00000264111.6																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1312-1314)Cga>Gga		Rap guanine nucleotide exchange factor (GEF) 4							77.0	79.0	78.0					2																	173853508		1994	4172	6166	SO:0001583	missense	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173853508C>G	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.1315C>G	2.37:g.173853508C>G	ENSP00000380271:p.Arg439Gly					RAPGEF4_ENST00000538974.1_Missense_Mutation_p.R268G|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.R286G|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.R219G|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.R439G|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.R295G|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.R439G|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.R286G	p.R438G			Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		14	1499	+			439					B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	ENST00000397081.3	37	c.1312C>G	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889630	0.72524	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000539767;ENST00000535187	D;D;D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.56	3.73	0.42828	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.90577	0.7046	M	0.64997	1.995	0.80722	D	1	D;D;P;B	0.89917	0.99;1.0;0.728;0.217	D;D;P;P	0.97110	0.956;1.0;0.481;0.615	D	0.90657	0.4587	10	0.62326	D	0.03	.	14.4581	0.67431	0.3846:0.6154:0.0:0.0	.	266;268;295;439	B7Z805;B7Z2R0;Q8WZA2-3;Q8WZA2	.;.;.;RPGF4_HUMAN	G	438;439;439;295;268;286;286;266;219	ENSP00000264111:R438G;ENSP00000380271:R439G;ENSP00000387104:R439G;ENSP00000380276:R295G;ENSP00000440135:R268G;ENSP00000440250:R286G;ENSP00000437384:R286G;ENSP00000438011:R219G	ENSP00000264111:R438G	R	+	1	2	RAPGEF4	173561754	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.893000	0.28336	0.789000	0.33779	0.655000	0.94253	CGA		0.488	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023		12	48	0	0	0	1	0	12	48				
CLU	1191	broad.mit.edu	37	8	27463875	27463875	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr8:27463875C>T	ENST00000316403.10	-	4	818	c.413G>A	c.(412-414)cGc>cAc	p.R138H	CLU_ENST00000546343.1_Missense_Mutation_p.R149H|CLU_ENST00000405140.3_Missense_Mutation_p.R138H|CLU_ENST00000560366.1_Missense_Mutation_p.R190H|CLU_ENST00000523500.1_Missense_Mutation_p.R138H			P10909	CLUS_HUMAN	clusterin	138					blood coagulation (GO:0007596)|cell morphogenesis (GO:0000902)|central nervous system myelin maintenance (GO:0032286)|chaperone-mediated protein complex assembly (GO:0051131)|chaperone-mediated protein folding (GO:0061077)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lipid metabolic process (GO:0006629)|microglial cell activation (GO:0001774)|microglial cell proliferation (GO:0061518)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of protein homooligomerization (GO:0032463)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of tau-protein kinase activity (GO:1902949)|positive regulation of tumor necrosis factor production (GO:0032760)|protein import (GO:0017038)|protein stabilization (GO:0050821)|regulation of beta-amyloid clearance (GO:1900221)|regulation of neuron death (GO:1901214)|regulation of neuronal signal transduction (GO:1902847)|release of cytochrome c from mitochondria (GO:0001836)|response to misfolded protein (GO:0051788)|response to virus (GO:0009615)|reverse cholesterol transport (GO:0043691)	apical dendrite (GO:0097440)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|spherical high-density lipoprotein particle (GO:0034366)	misfolded protein binding (GO:0051787)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		TTTCACCTGGCGGCCAACCAG	0.552																																						ENST00000316403.10																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21						c.(412-414)cGc>cAc		clusterin							81.0	75.0	77.0					8																	27463875		2203	4300	6503	SO:0001583	missense	1191				chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding	g.chr8:27463875C>T	M64722	CCDS47832.1	8p21-p12	2012-11-30	2006-02-10		ENSG00000120885	ENSG00000120885			2095	protein-coding gene	gene with protein product	"""complement lysis inhibitor"", ""sulfated glycoprotein 2"", ""testosterone-repressed prostate message 2"", ""apolipoprotein J"""	185430	"""clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J)"""	CLI, APOJ		1585460	Standard	NR_038335		Approved	SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU2	uc003xfz.2	P10909	OTTHUMG00000102114	ENST00000316403.10:c.413G>A	8.37:g.27463875C>T	ENSP00000315130:p.Arg138His					CLU_ENST00000546343.1_Missense_Mutation_p.R149H|CLU_ENST00000405140.3_Missense_Mutation_p.R138H|CLU_ENST00000523500.1_Missense_Mutation_p.R138H|CLU_ENST00000560366.1_Missense_Mutation_p.R190H	p.R138H			P10909	CLUS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)	4	818	-		Ovarian(32;2.61e-05)	138					B2R9Q1|B3KSE6|P11380|P11381|Q2TU75|Q5HYC1|Q7Z5B9	Missense_Mutation	SNP	ENST00000316403.10	37	c.413G>A	CCDS47832.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.540373	0.65085	.	.	ENSG00000120885	ENST00000316403;ENST00000546343;ENST00000405140;ENST00000523500;ENST00000523589;ENST00000520796;ENST00000519742	T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76	5.52	-6.94	0.01633	Clusterin, N-terminal (1);	0.414873	0.28927	N	0.013699	T	0.10423	0.0255	N	0.11427	0.14	0.26031	N	0.981732	B;B;B	0.18610	0.023;0.023;0.029	B;B;B	0.17098	0.01;0.01;0.017	T	0.09100	-1.0690	10	0.44086	T	0.13	-7.8341	11.3501	0.49583	0.0:0.7452:0.0987:0.1561	.	190;149;138	P10909-2;P10909-5;P10909	.;.;CLUS_HUMAN	H	190;149;138;138;138;138;138	ENSP00000446413:R149H;ENSP00000385419:R138H;ENSP00000429620:R138H;ENSP00000431070:R138H;ENSP00000429336:R138H;ENSP00000431026:R138H	ENSP00000315130:R190H	R	-	2	0	CLU	27519792	0.074000	0.21230	0.017000	0.16124	0.706000	0.40770	0.312000	0.19397	-1.298000	0.02348	-0.150000	0.13652	CGC		0.552	CLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219953.3	NM_001831		14	49	0	0	0	1	0	14	49				
DLAT	1737	broad.mit.edu	37	11	111914221	111914221	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr11:111914221G>C	ENST00000280346.6	+	8	1820	c.1161G>C	c.(1159-1161)aaG>aaC	p.K387N	DLAT_ENST00000537636.1_Missense_Mutation_p.K158N|DLAT_ENST00000393051.1_Missense_Mutation_p.K282N	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	387	E3-binding site. {ECO:0000250}.				cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		TCACCAAGAAGGATATCGACT	0.413																																						ENST00000280346.6																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22						c.(1159-1161)aaG>aaC		dihydrolipoamide S-acetyltransferase	NADH(DB00157)						395.0	334.0	355.0					11																	111914221		2201	4297	6498	SO:0001583	missense	1737				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding	g.chr11:111914221G>C	Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"""E2 component of pyruvate dehydrogenase complex"""	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.1161G>C	11.37:g.111914221G>C	ENSP00000280346:p.Lys387Asn					DLAT_ENST00000537636.1_Missense_Mutation_p.K158N|DLAT_ENST00000393051.1_Missense_Mutation_p.K282N	p.K387N	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	8	1820	+		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)	387			E3-binding site (By similarity).		Q16783|Q53EP3	Missense_Mutation	SNP	ENST00000280346.6	37	c.1161G>C	CCDS8354.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.982990	0.34942	.	.	ENSG00000150768	ENST00000280346;ENST00000393051;ENST00000531306;ENST00000537636	T;T;T;T	0.23147	2.36;2.49;2.38;1.92	5.91	0.883	0.19177	E3 binding (3);	0.000000	0.85682	D	0.000000	T	0.42988	0.1227	M	0.69823	2.125	0.80722	D	1	P;D;P	0.89917	0.947;1.0;0.947	P;D;P	0.87578	0.856;0.998;0.856	T	0.16482	-1.0401	10	0.37606	T	0.19	-14.4586	8.3399	0.32237	0.5298:0.0:0.4702:0.0	.	387;282;387	Q86YI5;E9PEJ4;P10515	.;.;ODP2_HUMAN	N	387;282;219;158	ENSP00000280346:K387N;ENSP00000376771:K282N;ENSP00000433432:K219N;ENSP00000442427:K158N	ENSP00000280346:K387N	K	+	3	2	DLAT	111419431	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.683000	0.37638	0.263000	0.21812	0.655000	0.94253	AAG		0.413	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931		37	102	0	0	0	1	0	37	102				
XIRP1	165904	broad.mit.edu	37	3	39229311	39229311	+	Silent	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr3:39229311C>T	ENST00000340369.3	-	2	1854	c.1626G>A	c.(1624-1626)gtG>gtA	p.V542V	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.V542V	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	542	Interaction with CTNNB1. {ECO:0000250}.				cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCCCAGCCACCACTTCCTGCC	0.612																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(1624-1626)gtG>gtA		xin actin-binding repeat containing 1							54.0	53.0	54.0					3																	39229311		2203	4300	6503	SO:0001819	synonymous_variant	165904						actin binding	g.chr3:39229311C>T	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.1626G>A	3.37:g.39229311C>T						XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.V542V	p.V542V	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	1854	-			542			Interaction with CTNNB1 (By similarity).		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	ENST00000340369.3	37	c.1626G>A	CCDS2683.1																																																																																				0.612	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		13	76	0	0	0	1	0	13	76				
TARDBP	23435	broad.mit.edu	37	1	11082205	11082205	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr1:11082205G>A	ENST00000240185.3	+	6	853	c.739G>A	c.(739-741)Gac>Aac	p.D247N	TARDBP_ENST00000315091.3_Missense_Mutation_p.D247N|TARDBP_ENST00000439080.2_Missense_Mutation_p.D131N	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	247	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell death (GO:0008219)|mRNA processing (GO:0006397)|negative regulation by host of viral transcription (GO:0043922)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		TTGTGGAGAGGACTTGATCAT	0.353																																						ENST00000240185.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11						c.(739-741)Gac>Aac		TAR DNA binding protein							91.0	89.0	89.0					1																	11082205		2203	4300	6503	SO:0001583	missense	23435				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:11082205G>A	U23731	CCDS122.1	1p36.22	2014-09-17			ENSG00000120948	ENSG00000120948		"""RNA binding motif (RRM) containing"""	11571	protein-coding gene	gene with protein product		605078				7745706	Standard	NM_007375		Approved	TDP-43, ALS10	uc001art.3	Q13148	OTTHUMG00000002120	ENST00000240185.3:c.739G>A	1.37:g.11082205G>A	ENSP00000240185:p.Asp247Asn					TARDBP_ENST00000315091.3_Missense_Mutation_p.D247N|TARDBP_ENST00000439080.2_Missense_Mutation_p.D131N	p.D247N	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)	6	853	+	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	247			RRM 2.		A4GUK4|A4GUK5|A4GUK6|B2R629|B4DJ45|E2PU12|Q53H27|Q6FI92|Q96DJ0	Missense_Mutation	SNP	ENST00000240185.3	37	c.739G>A	CCDS122.1	.	.	.	.	.	.	.	.	.	.	G	36	5.614447	0.96649	.	.	ENSG00000120948	ENST00000240185;ENST00000439080;ENST00000315091	D;D;T	0.85484	-1.99;-1.99;1.29	5.81	5.81	0.92471	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	D	0.86916	0.6048	L	0.43646	1.37	0.80722	D	1	P;D	0.56035	0.931;0.974	P;P	0.55011	0.766;0.677	T	0.82131	-0.0609	10	0.14252	T	0.57	-38.791	20.0825	0.97783	0.0:0.0:1.0:0.0	.	131;247	B4DJ45;Q13148	.;TADBP_HUMAN	N	247;131;247	ENSP00000240185:D247N;ENSP00000404666:D131N;ENSP00000313129:D247N	ENSP00000240185:D247N	D	+	1	0	TARDBP	11004792	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.631000	0.98424	2.746000	0.94184	0.655000	0.94253	GAC		0.353	TARDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006063.1	NM_007375		8	49	0	0	0	1	0	8	49				
SLC6A17	388662	broad.mit.edu	37	1	110740903	110740903	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr1:110740903G>A	ENST00000331565.4	+	12	2506	c.2021G>A	c.(2020-2022)cGc>cAc	p.R674H		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	674					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GATGAGACCCGCTTCATCCTC	0.602																																						ENST00000331565.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(2020-2022)cGc>cAc		solute carrier family 6 (neutral amino acid transporter), member 17							128.0	101.0	111.0					1																	110740903		2203	4300	6503	SO:0001583	missense	388662				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	g.chr1:110740903G>A		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.2021G>A	1.37:g.110740903G>A	ENSP00000330199:p.Arg674His						p.R674H	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	12	2506	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	674					A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	ENST00000331565.4	37	c.2021G>A	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.981644	0.93044	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.74002	-0.8	4.42	4.42	0.53409	.	0.264809	0.36740	N	0.002432	T	0.69287	0.3094	L	0.47716	1.5	0.54753	D	0.999981	D	0.61080	0.989	P	0.50970	0.655	T	0.72137	-0.4381	10	0.46703	T	0.11	.	16.9869	0.86342	0.0:0.0:1.0:0.0	.	674	Q9H1V8	S6A17_HUMAN	H	674	ENSP00000330199:R674H	ENSP00000330199:R674H	R	+	2	0	SLC6A17	110542426	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.375000	0.97178	2.003000	0.58678	0.305000	0.20034	CGC		0.602	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		15	55	0	0	0	1	0	15	55				
PSCA	8000	broad.mit.edu	37	8	143763518	143763518	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr8:143763518G>T	ENST00000301258.4	+	3	396	c.313G>T	c.(313-315)Ggc>Tgc	p.G105C		NM_005672.4	NP_005663.2	O43653	PSCA_HUMAN	prostate stem cell antigen	114						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)	2	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CCCTGCACTCGGCCTGCTGCT	0.682																																						ENST00000301258.4																			0				endometrium(1)|large_intestine(1)	2						c.(313-315)Ggc>Tgc		prostate stem cell antigen							23.0	26.0	25.0					8																	143763518		2131	4241	6372	SO:0001583	missense	8000							g.chr8:143763518G>T	AF043498	CCDS47925.1, CCDS47925.2	8q24.2	2004-02-03				ENSG00000167653			9500	protein-coding gene	gene with protein product		602470				9465086	Standard	NM_005672		Approved		uc022bcd.1	O43653		ENST00000301258.4:c.313G>T	8.37:g.143763518G>T	ENSP00000301258:p.Gly105Cys						p.G105C	NM_005672.4	NP_005663.2	D3DWI6	D3DWI6_HUMAN			3	396	+	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		105					Q6UW92	Missense_Mutation	SNP	ENST00000301258.4	37	c.313G>T	CCDS47925.2	.	.	.	.	.	.	.	.	.	.	G	8.637	0.895155	0.17613	.	.	ENSG00000167653	ENST00000301258	.	.	.	3.21	-6.43	0.01926	.	0.663432	0.14134	N	0.339151	T	0.27278	0.0669	N	0.19112	0.55	0.09310	N	0.999998	D	0.63880	0.993	P	0.51866	0.682	T	0.45056	-0.9287	9	0.46703	T	0.11	.	11.0731	0.48014	0.1617:0.1245:0.7138:0.0	.	114	O43653	PSCA_HUMAN	C	114	.	ENSP00000301258:G114C	G	+	1	0	PSCA	143760520	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.816000	0.01720	-2.488000	0.00518	-1.305000	0.01319	GGC		0.682	PSCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367112.2	NM_005672		9	15	1	0	3.09899e-07	1	3.25175e-07	9	15				
PTCHD2	57540	broad.mit.edu	37	1	11561058	11561058	+	Silent	SNP	G	G	T	rs367601578		TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr1:11561058G>T	ENST00000294484.6	+	2	147	c.9G>T	c.(7-9)acG>acT	p.T3T	PTCHD2_ENST00000389575.3_Silent_p.T3T	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	3					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CTATGGACACGGAGGATGACC	0.607																																						ENST00000294484.6																			0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(7-9)acG>acT		patched domain containing 2							54.0	58.0	57.0					1																	11561058		2030	4171	6201	SO:0001819	synonymous_variant	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11561058G>T	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.9G>T	1.37:g.11561058G>T						PTCHD2_ENST00000389575.3_Silent_p.T3T	p.T3T	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	2	147	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	3					Q5VTU9|Q9UJD6	Silent	SNP	ENST00000294484.6	37	c.9G>T	CCDS41247.1																																																																																				0.607	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		8	37	1	0	5.68852e-11	1	6.05422e-11	8	37				
COL22A1	169044	broad.mit.edu	37	8	139890116	139890116	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr8:139890116C>T	ENST00000303045.6	-	3	981	c.535G>A	c.(535-537)Gag>Aag	p.E179K	COL22A1_ENST00000435777.1_Missense_Mutation_p.E179K	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	179	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTGAGTGCCTCGCCCACGCCC	0.677										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(535-537)Gag>Aag		collagen, type XXII, alpha 1							25.0	26.0	26.0					8																	139890116		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139890116C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.535G>A	8.37:g.139890116C>T	ENSP00000303153:p.Glu179Lys	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.E179K	p.E179K	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		3	981	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		179			VWFA.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.535G>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.556475	0.65425	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.83163	-1.69;-1.69	5.3	4.43	0.53597	von Willebrand factor, type A (3);	0.266501	0.25735	N	0.028653	T	0.70684	0.3252	N	0.17922	0.545	0.43531	D	0.995811	B	0.13594	0.008	B	0.12156	0.007	T	0.63225	-0.6685	9	.	.	.	.	13.3029	0.60336	0.0:0.9236:0.0:0.0764	.	179	Q8NFW1	COMA1_HUMAN	K	179	ENSP00000303153:E179K;ENSP00000387655:E179K	.	E	-	1	0	COL22A1	139959298	0.871000	0.30034	0.838000	0.33150	0.643000	0.38383	2.994000	0.49433	1.222000	0.43521	-0.122000	0.15005	GAG		0.677	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		7	16	0	0	0	1	0	7	16				
BCL6	604	broad.mit.edu	37	3	187449600	187449600	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr3:187449600G>A	ENST00000406870.2	-	4	646	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.R94W|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.R94W	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	94	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		AAATTGAGCCGAGATGTGTAC	0.488			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																	ENST00000406870.2				Dom	yes		3	3q27	604	"""T, Mis"""	B-cell CLL/lymphoma 6			L	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""		"""NHL, CLL"""		0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40						c.(280-282)Cgg>Tgg		B-cell CLL/lymphoma 6							110.0	91.0	97.0					3																	187449600		2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187449600G>A		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.280C>T	3.37:g.187449600G>A	ENSP00000384371:p.Arg94Trp					RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.R94W|BCL6_ENST00000450123.2_Missense_Mutation_p.R94W|RP11-211G3.3_ENST00000449623.1_Intron	p.R94W	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	4	646	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		94			BTB.		A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.280C>T	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677787	0.88445	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123;ENST00000430339;ENST00000438077	T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36	5.65	4.75	0.60458	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.80644	0.4662	M	0.71920	2.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.83074	-0.0141	10	0.72032	D	0.01	.	14.9583	0.71135	0.0:0.0:0.8518:0.1482	.	94;94	B8PSA7;P41182	.;BCL6_HUMAN	W	94	ENSP00000384371:R94W;ENSP00000232014:R94W;ENSP00000413122:R94W;ENSP00000415574:R94W;ENSP00000414455:R94W	ENSP00000232014:R94W	R	-	1	2	BCL6	188932294	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.244000	0.72391	1.474000	0.48178	0.591000	0.81541	CGG		0.488	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		16	42	0	0	0	1	0	16	42				
FAM135A	57579	broad.mit.edu	37	6	71186939	71186939	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr6:71186939A>C	ENST00000418814.2	+	8	1060	c.446A>C	c.(445-447)cAt>cCt	p.H149P	FAM135A_ENST00000370479.3_Missense_Mutation_p.H106P|FAM135A_ENST00000361499.3_Missense_Mutation_p.H149P|FAM135A_ENST00000457062.2_Missense_Mutation_p.H106P|FAM135A_ENST00000505769.1_Missense_Mutation_p.H149P|FAM135A_ENST00000505868.1_Missense_Mutation_p.H149P	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	149										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AGAGGCCTTCATCATCATGTT	0.408																																						ENST00000418814.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(445-447)cAt>cCt		family with sequence similarity 135, member A							185.0	162.0	170.0					6																	71186939		2203	4300	6503	SO:0001583	missense	57579							g.chr6:71186939A>C	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.446A>C	6.37:g.71186939A>C	ENSP00000410768:p.His149Pro					FAM135A_ENST00000370479.3_Missense_Mutation_p.H106P|FAM135A_ENST00000361499.3_Missense_Mutation_p.H149P|FAM135A_ENST00000505868.1_Missense_Mutation_p.H149P|FAM135A_ENST00000505769.1_Missense_Mutation_p.H149P|FAM135A_ENST00000457062.2_Missense_Mutation_p.H106P	p.H149P	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN			8	1060	+			149					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	c.446A>C	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.496694	0.85069	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000515323;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T	0.36878	1.39;1.26;1.23;1.26;1.6;1.35	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.55878	0.1948	M	0.81802	2.56	0.51482	D	0.999929	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.998;0.998	T	0.63726	-0.6572	10	0.87932	D	0	.	15.7056	0.77577	1.0:0.0:0.0:0.0	.	149;149;149;106	D6RC17;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;F135A_HUMAN;.;.	P	149;106;149;149;106;149;149	ENSP00000410768:H149P;ENSP00000359510:H106P;ENSP00000423785:H149P;ENSP00000409201:H106P;ENSP00000354913:H149P;ENSP00000423307:H149P	ENSP00000354913:H149P	H	+	2	0	FAM135A	71243660	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.310000	0.96267	2.120000	0.65058	0.377000	0.23210	CAT		0.408	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		12	42	0	0	0	1	0	12	42				
KIF15	56992	broad.mit.edu	37	3	44893329	44893329	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr3:44893329G>A	ENST00000326047.4	+	33	4006	c.3857G>A	c.(3856-3858)aGa>aAa	p.R1286K	KIF15_ENST00000425755.1_Missense_Mutation_p.R921K	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1286					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GAATGCCTTAGAATGACTGAT	0.363																																						ENST00000326047.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36						c.(3856-3858)aGa>aAa		kinesin family member 15							150.0	156.0	154.0					3																	44893329		2203	4300	6503	SO:0001583	missense	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44893329G>A	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.3857G>A	3.37:g.44893329G>A	ENSP00000324020:p.Arg1286Lys					KIF15_ENST00000425755.1_Missense_Mutation_p.R921K	p.R1286K	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	33	4006	+			1286					Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	ENST00000326047.4	37	c.3857G>A	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	G	6.710	0.499653	0.12762	.	.	ENSG00000163808	ENST00000326047;ENST00000425755	T;T	0.23147	1.92;1.92	5.68	1.4	0.22301	.	0.358527	0.23904	N	0.043408	T	0.10337	0.0253	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.30238	-0.9985	10	0.07644	T	0.81	.	3.9613	0.09412	0.3028:0.4204:0.2768:0.0	.	1286	Q9NS87	KIF15_HUMAN	K	1286;921	ENSP00000324020:R1286K;ENSP00000389982:R921K	ENSP00000324020:R1286K	R	+	2	0	KIF15	44868333	0.653000	0.27358	0.012000	0.15200	0.298000	0.27526	1.021000	0.30040	0.772000	0.33382	0.556000	0.70494	AGA		0.363	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2			23	69	0	0	0	1	0	23	69				
MAGEC3	139081	broad.mit.edu	37	X	140983074	140983074	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chrX:140983074G>A	ENST00000298296.1	+	5	929	c.929G>A	c.(928-930)gGg>gAg	p.G310E	MAGEC3_ENST00000544766.1_5'UTR|MAGEC3_ENST00000448920.1_Missense_Mutation_p.G62E|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000409007.1_5'Flank|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000483584.1_3'UTR	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	310	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTTGGCAGGGTTCGCGGAT	0.597																																						ENST00000298296.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69						c.(928-930)gGg>gAg		melanoma antigen family C, 3							97.0	93.0	95.0					X																	140983074		2203	4300	6503	SO:0001583	missense	139081							g.chrX:140983074G>A	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.929G>A	X.37:g.140983074G>A	ENSP00000298296:p.Gly310Glu					MAGEC3_ENST00000544766.1_5'UTR|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Missense_Mutation_p.G62E|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000483584.1_3'UTR	p.G310E	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN			5	929	+	Acute lymphoblastic leukemia(192;6.56e-05)		310			MAGE 1.		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.929G>A	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	N	4.254	0.046170	0.08243	.	.	ENSG00000165509	ENST00000298296;ENST00000448920	T;T	0.52526	4.24;0.66	1.02	-1.37	0.09056	.	.	.	.	.	T	0.26666	0.0652	N	0.22421	0.69	0.09310	N	1	D	0.55385	0.971	B	0.42188	0.379	T	0.18241	-1.0343	9	0.22706	T	0.39	.	4.2752	0.10806	0.457:0.0:0.543:0.0	.	310	Q8TD91	MAGC3_HUMAN	E	310;62	ENSP00000298296:G310E;ENSP00000395092:G62E	ENSP00000298296:G310E	G	+	2	0	MAGEC3	140810740	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.419000	0.07071	-0.643000	0.05473	-0.579000	0.04138	GGG		0.597	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		39	82	0	0	0	1	0	39	82				
FBXW7	55294	broad.mit.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	rs149680468		TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line). {ECO:0000269|PubMed:11565033, ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		139	Substitution - Missense(138)|Unknown(1)	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)	haematopoietic_and_lymphoid_tissue(44)|large_intestine(26)|endometrium(20)|urinary_tract(15)|lung(15)|upper_aerodigestive_tract(8)|skin(8)|ovary(2)|biliary_tract(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1513-1515)Cgc>Ggc		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							167.0	156.0	160.0					4																	153247289		2203	4300	6503	SO:0001583	missense	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153247289G>C	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1513C>G	4.37:g.153247289G>C	ENSP00000281708:p.Arg505Gly					FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G	p.R505G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			10	2742	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	505		R -> L (in an ovarian cancer cell line).			B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1513C>G	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513685	0.64522	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.72	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101576	0.64402	D	0.000001	T	0.78679	0.4321	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.81858	-0.0739	10	0.87932	D	0	-12.0024	15.0746	0.72066	0.0681:0.0:0.9319:0.0	.	329;505;387;425	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	G	505;387;425;329	ENSP00000281708:R505G;ENSP00000296555:R387G;ENSP00000263981:R425G;ENSP00000377528:R329G	ENSP00000263981:R425G	R	-	1	0	FBXW7	153466739	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	9.772000	0.98984	1.559000	0.49555	-0.145000	0.13849	CGC		0.468	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			14	84	0	0	0	1	0	14	84				
ITPR2	3709	broad.mit.edu	37	12	26750065	26750065	+	Silent	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr12:26750065C>T	ENST00000381340.3	-	31	4421	c.4005G>A	c.(4003-4005)ttG>ttA	p.L1335L		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1335					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CCCCATTTATCAACTGAAATG	0.393																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(4003-4005)ttG>ttA		inositol 1,4,5-trisphosphate receptor, type 2							147.0	137.0	140.0					12																	26750065		1905	4130	6035	SO:0001819	synonymous_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26750065C>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.4005G>A	12.37:g.26750065C>T							p.L1335L	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			31	4421	-	Colorectal(261;0.0847)		1335					O94773	Silent	SNP	ENST00000381340.3	37	c.4005G>A	CCDS41764.1																																																																																				0.393	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		26	89	0	0	0	1	0	26	89				
USP3	9960	broad.mit.edu	37	15	63824819	63824819	+	Intron	SNP	T	T	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr15:63824819T>C	ENST00000380324.3	+	2	220				USP3_ENST00000536001.1_Intron|USP3_ENST00000558285.1_Missense_Mutation_p.V5A|USP3_ENST00000539772.1_Intron|USP3_ENST00000540797.1_Intron|USP3_ENST00000268049.7_Intron	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3						DNA repair (GO:0006281)|histone deubiquitination (GO:0016578)|mitotic cell cycle (GO:0000278)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear chromatin (GO:0000790)	histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		ATGCAATTGGTATATTGTGTA	0.393																																						ENST00000558285.1																			0				endometrium(3)|large_intestine(7)|lung(4)	14						c.(13-15)gTa>gCa		ubiquitin specific peptidase 3							156.0	144.0	148.0					15																	63824819		2203	4300	6503	SO:0001627	intron_variant	9960				DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr15:63824819T>C	AF073344	CCDS32265.1, CCDS58370.1	15q22.3	2008-04-11	2005-08-08			ENSG00000140455		"""Ubiquitin-specific peptidases"""	12626	protein-coding gene	gene with protein product		604728	"""ubiquitin specific protease 3"""			12838346	Standard	NM_006537		Approved		uc002amf.4	Q9Y6I4		ENST00000380324.3:c.92-27T>C	15.37:g.63824819T>C						USP3_ENST00000540797.1_Intron|USP3_ENST00000380324.3_Intron|USP3_ENST00000268049.7_Intron|USP3_ENST00000536001.1_Intron|USP3_ENST00000539772.1_Intron	p.V5A			Q9Y6I4	UBP3_HUMAN		GBM - Glioblastoma multiforme(80;0.0187)	1	115	+			0					B4DVU5|F5H1A6|Q8WVD0	Missense_Mutation	SNP	ENST00000380324.3	37	c.14T>C	CCDS32265.1																																																																																				0.393	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417773.1			9	35	0	0	0	1	0	9	35				
NCAPD3	23310	broad.mit.edu	37	11	134072773	134072773	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr11:134072773T>C	ENST00000534548.2	-	13	1617	c.1553A>G	c.(1552-1554)aAc>aGc	p.N518S		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	518					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TTCGGAACGGTTAGATGTCTG	0.373																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1552-1554)aAc>aGc		non-SMC condensin II complex, subunit D3							153.0	142.0	146.0					11																	134072773		2201	4297	6498	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134072773T>C	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.1553A>G	11.37:g.134072773T>C	ENSP00000433681:p.Asn518Ser						p.N518S	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	13	1617	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	518					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.1553A>G	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	T	0.327	-0.958544	0.02267	.	.	ENSG00000151503	ENST00000534548	T	0.21932	1.98	5.66	1.58	0.23477	Armadillo-type fold (1);	1.114980	0.06461	N	0.729467	T	0.11665	0.0284	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33085	-0.9882	10	0.05721	T	0.95	-3.6604	4.0845	0.09940	0.157:0.1883:0.0:0.6546	.	518	P42695	CNDD3_HUMAN	S	518	ENSP00000433681:N518S	ENSP00000431612:N518S	N	-	2	0	NCAPD3	133577983	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.152000	0.16302	0.405000	0.25532	-0.344000	0.07964	AAC		0.373	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		7	50	0	0	0	1	0	7	50				
LRFN2	57497	broad.mit.edu	37	6	40400811	40400811	+	Silent	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr6:40400811C>T	ENST00000338305.6	-	2	584	c.42G>A	c.(40-42)gcG>gcA	p.A14A		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	14						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCACGGCAAACGCCATGCCAA	0.597																																						ENST00000338305.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(40-42)gcG>gcA		leucine rich repeat and fibronectin type III domain containing 2							39.0	41.0	40.0					6																	40400811		2203	4300	6503	SO:0001819	synonymous_variant	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40400811C>T	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.42G>A	6.37:g.40400811C>T							p.A14A	NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN			2	584	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		14					A5PKU3|Q5SYP9	Silent	SNP	ENST00000338305.6	37	c.42G>A	CCDS34443.1																																																																																				0.597	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		9	46	0	0	0	1	0	9	46				
DDN	23109	broad.mit.edu	37	12	49391306	49391306	+	Silent	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr12:49391306G>A	ENST00000421952.2	-	2	1374	c.1353C>T	c.(1351-1353)ggC>ggT	p.G451G	RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	451	Interaction with CD2AP and NPHS1. {ECO:0000250}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						TGACAAAGACGCCTTCCCCAC	0.642																																						ENST00000421952.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						c.(1351-1353)ggC>ggT		dendrin							62.0	62.0	62.0					12																	49391306		2203	4300	6503	SO:0001819	synonymous_variant	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49391306G>A	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.1353C>T	12.37:g.49391306G>A							p.G451G	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN			2	1374	-			451			Interaction with CD2AP and NPHS1 (By similarity).			Silent	SNP	ENST00000421952.2	37	c.1353C>T	CCDS31791.2																																																																																				0.642	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			22	54	0	0	0	1	0	22	54				
MBTPS1	8720	broad.mit.edu	37	16	84132699	84132699	+	Missense_Mutation	SNP	G	G	A	rs142980972		TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr16:84132699G>A	ENST00000343411.3	-	3	875	c.380C>T	c.(379-381)aCg>aTg	p.T127M		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	127					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCGTTGGGGCGTGACCCGTTT	0.413																																						ENST00000343411.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(379-381)aCg>aTg		membrane-bound transcription factor peptidase, site 1		G	MET/THR	1,4399	2.1+/-5.4	0,1,2199	195.0	181.0	186.0		380	5.6	0.5	16	dbSNP_134	186	0,8600		0,0,4300	no	missense	MBTPS1	NM_003791.2	81	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	127/1053	84132699	1,12999	2200	4300	6500	SO:0001583	missense	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84132699G>A	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.380C>T	16.37:g.84132699G>A	ENSP00000344223:p.Thr127Met						p.T127M	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN			3	875	-			127					A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	c.380C>T	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399080	0.83120	2.27E-4	0.0	ENSG00000140943	ENST00000343411	T	0.42513	0.97	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.63745	0.2537	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.64595	0.927	T	0.65001	-0.6274	10	0.66056	D	0.02	-17.0026	19.6277	0.95684	0.0:0.0:1.0:0.0	.	127	Q14703	MBTP1_HUMAN	M	127	ENSP00000344223:T127M	ENSP00000344223:T127M	T	-	2	0	MBTPS1	82690200	1.000000	0.71417	0.459000	0.27081	0.952000	0.60782	9.312000	0.96287	2.648000	0.89879	0.650000	0.86243	ACG		0.413	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		17	72	0	0	0	1	0	17	72				
ITM2C	81618	broad.mit.edu	37	2	231740463	231740463	+	Silent	SNP	C	C	T	rs560313566		TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr2:231740463C>T	ENST00000326427.6	+	3	516	c.390C>T	c.(388-390)aaC>aaT	p.N130N	ITM2C_ENST00000326407.6_Silent_p.N130N|ITM2C_ENST00000409704.2_Silent_p.N68N|ITM2C_ENST00000335005.6_Silent_p.N83N|ITM2C_ENST00000492029.1_3'UTR	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	130					negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		AGCGCATCAACGTGCCTGTGC	0.617													T|||	1	0.000199681	0.0	0.0	5008	,	,		15537	0.0		0.0	False		,,,				2504	0.001					ENST00000326427.6																			0				cervix(2)|lung(1)|ovary(1)|skin(1)	5						c.(388-390)aaC>aaT		integral membrane protein 2C							134.0	123.0	127.0					2																	231740463		2203	4300	6503	SO:0001819	synonymous_variant	81618				negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding	g.chr2:231740463C>T	AF038953	CCDS2479.1, CCDS33395.1, CCDS33396.1, CCDS74665.1	2q37	2012-10-10			ENSG00000135916	ENSG00000135916		"""BRICHOS domain containing"""	6175	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2C"""	609554				9653160	Standard	NM_030926		Approved	BRI3, E25, hRPC.1050_D_4, ITM3, BRICD2C	uc002vqz.3	Q9NQX7	OTTHUMG00000133219	ENST00000326427.6:c.390C>T	2.37:g.231740463C>T						ITM2C_ENST00000335005.6_Silent_p.N83N|ITM2C_ENST00000409704.2_Silent_p.N68N|ITM2C_ENST00000492029.1_3'UTR|ITM2C_ENST00000326407.6_Silent_p.N130N	p.N130N	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	3	516	+		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)	130					B3KPG4|Q4G0A8|Q53H84|Q6IAE7|Q86VK5|Q8N288|Q8TAW0|Q9BUP8	Silent	SNP	ENST00000326427.6	37	c.390C>T	CCDS2479.1																																																																																				0.617	ITM2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256954.2	NM_030926		23	93	0	0	0	1	0	23	93				
DST	667	broad.mit.edu	37	6	56495047	56495047	+	Nonsense_Mutation	SNP	A	A	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr6:56495047A>C	ENST00000361203.3	-	27	3651	c.3644T>G	c.(3643-3645)tTa>tGa	p.L1215*	DST_ENST00000518935.1_Nonsense_Mutation_p.L889*|DST_ENST00000370769.4_Nonsense_Mutation_p.L1215*|DST_ENST00000446842.2_Nonsense_Mutation_p.L889*|DST_ENST00000244364.6_Nonsense_Mutation_p.L889*|DST_ENST00000312431.6_Nonsense_Mutation_p.L1215*|DST_ENST00000370754.5_Nonsense_Mutation_p.L1393*|DST_ENST00000370788.2_Nonsense_Mutation_p.L1215*|DST_ENST00000370765.6_Nonsense_Mutation_p.L889*|DST_ENST00000421834.2_Nonsense_Mutation_p.L1215*			Q03001	DYST_HUMAN	dystonin	1215					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCATACCTTTAAAGTACTTAT	0.318																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(4177-4179)tTa>tGa		dystonin							73.0	76.0	75.0					6																	56495047		2202	4294	6496	SO:0001587	stop_gained	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56495047A>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3644T>G	6.37:g.56495047A>C	ENSP00000354508:p.Leu1215*					DST_ENST00000446842.2_Nonsense_Mutation_p.L889*|DST_ENST00000361203.3_Nonsense_Mutation_p.L1215*|DST_ENST00000244364.6_Nonsense_Mutation_p.L889*|DST_ENST00000312431.6_Nonsense_Mutation_p.L1215*|DST_ENST00000370788.2_Nonsense_Mutation_p.L1215*|DST_ENST00000518935.1_Nonsense_Mutation_p.L889*|DST_ENST00000370765.6_Nonsense_Mutation_p.L889*|DST_ENST00000370769.4_Nonsense_Mutation_p.L1215*|DST_ENST00000421834.2_Nonsense_Mutation_p.L1215*	p.L1393*			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		30	4177	-	Lung NSC(77;0.103)		1215					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	ENST00000361203.3	37	c.4178T>G		.	.	.	.	.	.	.	.	.	.	A	39	7.848072	0.98522	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	.	.	.	5.9	5.9	0.94986	.	0.000000	0.41294	D	0.000903	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3317	0.83023	1.0:0.0:0.0:0.0	.	.	.	.	X	889;1393;1215;1215;889;1215;1215;1215;889;1255;889;889	.	ENSP00000244364:L889X	L	-	2	0	DST	56603006	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.176000	0.94839	2.264000	0.75181	0.533000	0.62120	TTA		0.318	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		16	61	0	0	0	1	0	16	61				
MYO7B	4648	broad.mit.edu	37	2	128354096	128354096	+	Silent	SNP	C	C	G			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr2:128354096C>G	ENST00000409816.2	+	18	2336	c.2304C>G	c.(2302-2304)ctC>ctG	p.L768L	MYO7B_ENST00000389524.4_Silent_p.L768L|MYO7B_ENST00000428314.1_Silent_p.L768L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	768	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GAGCGGCGCTCAGCATCCAGA	0.627																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(2302-2304)ctC>ctG		myosin VIIB							50.0	56.0	54.0					2																	128354096		1946	4162	6108	SO:0001819	synonymous_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128354096C>G		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2304C>G	2.37:g.128354096C>G						MYO7B_ENST00000409816.2_Silent_p.L768L|MYO7B_ENST00000428314.1_Silent_p.L768L	p.L768L			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	19	2357	+	Colorectal(110;0.1)		768			IQ 2.		Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	c.2304C>G	CCDS46405.1																																																																																				0.627	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		3	19	0	0	0	1	0	3	19				
OR10H2	26538	broad.mit.edu	37	19	15839711	15839711	+	Silent	SNP	C	C	G			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr19:15839711C>G	ENST00000305899.3	+	1	878	c.858C>G	c.(856-858)ctC>ctG	p.L286L		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CGCCCTTCCTCAGCCCCATCA	0.557																																						ENST00000305899.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27						c.(856-858)ctC>ctG		olfactory receptor, family 10, subfamily H, member 2							104.0	90.0	94.0					19																	15839711		2203	4300	6503	SO:0001819	synonymous_variant	26538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15839711C>G	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"""GPCR / Class A : Olfactory receptors"""	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.858C>G	19.37:g.15839711C>G							p.L286L	NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN			1	878	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		286					Q6IFQ1|Q96R58	Silent	SNP	ENST00000305899.3	37	c.858C>G	CCDS12333.1																																																																																				0.557	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			18	61	0	0	0	1	0	18	61				
CASP8	841	broad.mit.edu	37	2	202149646	202149646	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr2:202149646C>G	ENST00000432109.2	+	9	1099	c.910C>G	c.(910-912)Cac>Gac	p.H304D	CASP8_ENST00000264274.9_Missense_Mutation_p.H220D|CASP8_ENST00000264275.5_Missense_Mutation_p.H321D|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000323492.7_Missense_Mutation_p.H289D|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000358485.4_Missense_Mutation_p.H363D	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	304					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ACTCATGGACCACAGTAACAT	0.478										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(1087-1089)Cac>Gac		caspase 8, apoptosis-related cysteine peptidase							168.0	145.0	153.0					2																	202149646		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202149646C>G	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.910C>G	2.37:g.202149646C>G	ENSP00000412523:p.His304Asp	HNSCC(4;0.00038)				CASP8_ENST00000264274.9_Missense_Mutation_p.H220D|CASP8_ENST00000264275.5_Missense_Mutation_p.H321D|CASP8_ENST00000323492.7_Missense_Mutation_p.H289D|CASP8_ENST00000432109.2_Missense_Mutation_p.H304D|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR	p.H363D	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			8	1283	+			304					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.1087C>G	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825029	0.90955	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	T;T;T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15;0.15;0.15	5.68	5.68	0.88126	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.106337	0.64402	D	0.000005	T	0.81564	0.4849	M	0.93420	3.415	0.80722	D	1	D;D;P;D;P	0.89917	1.0;0.999;0.939;0.999;0.89	D;D;D;D;P	0.87578	0.998;0.987;0.92;0.993;0.729	D	0.85736	0.1334	10	0.87932	D	0	.	13.9977	0.64411	0.0:0.9277:0.0:0.0723	.	220;363;304;289;321	Q14790-3;Q14790-9;Q14790;Q14790-2;Q14790-4	.;.;CASP8_HUMAN;.;.	D	289;220;304;321;363;289;83	ENSP00000376091:H289D;ENSP00000264274:H220D;ENSP00000412523:H304D;ENSP00000264275:H321D;ENSP00000351273:H363D;ENSP00000325722:H289D;ENSP00000394434:H83D	ENSP00000264274:H220D	H	+	1	0	CASP8	201857891	1.000000	0.71417	0.980000	0.43619	0.516000	0.34256	3.088000	0.50175	2.687000	0.91594	0.561000	0.74099	CAC		0.478	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		21	96	0	0	0	1	0	21	96				
PSPC1	55269	broad.mit.edu	37	13	20279947	20279947	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr13:20279947C>T	ENST00000338910.4	-	8	1400	c.1241G>A	c.(1240-1242)gGt>gAt	p.G414D		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	414	Gly-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		ACCTTGGTTACCAGCAGGGGC	0.428																																						ENST00000338910.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(1240-1242)gGt>gAt		paraspeckle component 1							99.0	106.0	104.0					13																	20279947		1873	4114	5987	SO:0001583	missense	55269				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding	g.chr13:20279947C>T	AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"""RNA binding motif (RRM) containing"""	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.1241G>A	13.37:g.20279947C>T	ENSP00000343966:p.Gly414Asp						p.G414D	NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)	8	1400	-		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	414			Gly-rich.		Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Missense_Mutation	SNP	ENST00000338910.4	37	c.1241G>A	CCDS41870.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493313	0.64186	.	.	ENSG00000121390	ENST00000338910;ENST00000422828	T	0.23950	1.88	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.48502	0.1503	L	0.55990	1.75	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	T	0.41627	-0.9498	10	0.52906	T	0.07	-11.407	18.9252	0.92541	0.0:1.0:0.0:0.0	.	414	Q8WXF1	PSPC1_HUMAN	D	414;354	ENSP00000343966:G414D	ENSP00000343966:G414D	G	-	2	0	PSPC1	19177947	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.884000	0.75600	2.473000	0.83533	0.491000	0.48974	GGT		0.428	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044037.2			6	80	0	0	0	1	0	6	80				
ENGASE	64772	broad.mit.edu	37	17	77082217	77082217	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr17:77082217C>T	ENST00000579016.1	+	14	2018	c.2018C>T	c.(2017-2019)tCt>tTt	p.S673F		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	673						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						AGTGATGACTCTCCGGGCAGG	0.627																																						ENST00000579016.1																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						c.(2017-2019)tCt>tTt		endo-beta-N-acetylglucosaminidase							51.0	61.0	57.0					17																	77082217		2102	4220	6322	SO:0001583	missense	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77082217C>T	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"""Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase"", ""Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"""	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.2018C>T	17.37:g.77082217C>T	ENSP00000462333:p.Ser673Phe						p.S673F	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN			14	2018	+			673					Q659F0|Q8TB86|Q9H6U4	Missense_Mutation	SNP	ENST00000579016.1	37	c.2018C>T	CCDS42394.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.991109	0.35131	.	.	ENSG00000167280	ENST00000545583	.	.	.	3.85	2.88	0.33553	.	0.758616	0.12039	N	0.505232	T	0.46776	0.1410	L	0.60455	1.87	0.39849	D	0.973214	P	0.39964	0.697	B	0.41691	0.364	T	0.31138	-0.9954	9	0.15499	T	0.54	-11.2151	7.1576	0.25647	0.0:0.8754:0.0:0.1246	.	673	Q8NFI3	ENASE_HUMAN	F	673	.	ENSP00000438577:S673F	S	+	2	0	ENGASE	74593812	0.018000	0.18449	0.002000	0.10522	0.017000	0.09413	3.626000	0.54245	0.822000	0.34565	-0.373000	0.07131	TCT		0.627	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759		9	47	0	0	0	1	0	9	47				
TMTC1	83857	broad.mit.edu	37	12	29908713	29908713	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr12:29908713C>G	ENST00000539277.1	-	4	718	c.660G>C	c.(658-660)gaG>gaC	p.E220D	TMTC1_ENST00000551659.1_Missense_Mutation_p.E220D|TMTC1_ENST00000381224.2_Missense_Mutation_p.E112D|TMTC1_ENST00000256062.5_Missense_Mutation_p.E112D|TMTC1_ENST00000552618.1_Missense_Mutation_p.E220D	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	220						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TGATGCCTGTCTCTTTCACCA	0.473																																						ENST00000256062.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(334-336)gaG>gaC		transmembrane and tetratricopeptide repeat containing 1							119.0	107.0	111.0					12																	29908713		2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29908713C>G		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.660G>C	12.37:g.29908713C>G	ENSP00000442046:p.Glu220Asp					TMTC1_ENST00000539277.1_Missense_Mutation_p.E220D|TMTC1_ENST00000381224.2_Missense_Mutation_p.E112D|TMTC1_ENST00000552618.1_Missense_Mutation_p.E220D|TMTC1_ENST00000551659.1_Missense_Mutation_p.E220D	p.E112D	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN			4	809	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		220					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.336G>C	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199832	0.79015	.	.	ENSG00000133687	ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	D;D;D;D;T	0.84298	-1.83;-1.51;-1.79;-1.7;0.12	5.45	4.56	0.56223	.	0.108217	0.64402	D	0.000007	D	0.92277	0.7550	M	0.89214	3.015	0.39013	D	0.959587	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.93154	0.6552	9	.	.	.	-25.8557	9.6443	0.39857	0.0:0.8521:0.0:0.1479	.	112;220	Q8IUR5-3;Q8IUR5	.;TMTC1_HUMAN	D	112;220;220;220;112	ENSP00000256062:E112D;ENSP00000448112:E220D;ENSP00000449043:E220D;ENSP00000442046:E220D;ENSP00000370622:E112D	.	E	-	3	2	TMTC1	29799980	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.979000	0.40608	2.555000	0.86185	0.563000	0.77884	GAG		0.473	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		14	40	0	0	0	1	0	14	40				
FAM19A2	338811	broad.mit.edu	37	12	62104199	62104199	+	Splice_Site	SNP	C	C	A	rs371167984		TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr12:62104199C>A	ENST00000416284.3	-	5	1969		c.e5-1		FAM19A2_ENST00000551619.1_Splice_Site|FAM19A2_ENST00000551449.1_Splice_Site|FAM19A2_ENST00000550003.1_Splice_Site	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2							cytoplasm (GO:0005737)				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		AATGGGTTACCTACAAAGGAA	0.343																																						ENST00000416284.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15						c.e5-1		family with sequence similarity 19 (chemokine (C-C motif)-like), member A2		C		0,4406		0,0,2203	181.0	176.0	177.0			5.6	1.0	12		177	1,8599	1.2+/-3.3	0,1,4299	no	splice-3	FAM19A2	NM_178539.3		0,1,6502	AA,AC,CC		0.0116,0.0,0.0077			62104199	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	338811					cytoplasm		g.chr12:62104199C>A	AY325115	CCDS8962.1	12q14.1	2012-10-03			ENSG00000198673	ENSG00000198673			21589	protein-coding gene	gene with protein product						15028294	Standard	NM_178539		Approved	TAFA-2	uc001sqw.3	Q8N3H0	OTTHUMG00000170207	ENST00000416284.3:c.385-1G>T	12.37:g.62104199C>A						FAM19A2_ENST00000550003.1_Splice_Site|FAM19A2_ENST00000551449.1_Splice_Site|FAM19A2_ENST00000551619.1_Splice_Site		NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)	5	1969	-								B3KVV4|Q4G0R9|Q68DK0|Q6GTX6	Splice_Site	SNP	ENST00000416284.3	37		CCDS8962.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727104	0.48833	0.0	1.16E-4	ENSG00000198673	ENST00000416284;ENST00000551619;ENST00000550003;ENST00000551449	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1887	0.89800	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM19A2	60390466	1.000000	0.71417	0.999000	0.59377	0.394000	0.30568	5.021000	0.64072	2.808000	0.96608	0.655000	0.94253	.		0.343	FAM19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407967.2	NM_178539	Intron	25	78	1	0	3.65163e-15	1	3.91434e-15	25	78				
AGTPBP1	23287	broad.mit.edu	37	9	88162179	88162179	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr9:88162179C>T	ENST00000357081.3	-	26	3670	c.3526G>A	c.(3526-3528)Gaa>Aaa	p.E1176K	AGTPBP1_ENST00000376109.3_Missense_Mutation_p.E1188K|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.M624I|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.E1136K			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1176					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GGTTCATCTTCATCCAAGACA	0.383																																						ENST00000357081.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						c.(3526-3528)Gaa>Aaa		ATP/GTP binding protein 1							108.0	97.0	101.0					9																	88162179		2203	4300	6503	SO:0001583	missense	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88162179C>T	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.3526G>A	9.37:g.88162179C>T	ENSP00000349592:p.Glu1176Lys					AGTPBP1_ENST00000432218.1_Missense_Mutation_p.M624I|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.E1188K|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.E1136K|AGTPBP1_ENST00000337006.4_3'UTR	p.E1176K			Q9UPW5	CBPC1_HUMAN			26	3670	-			1176					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37	c.3526G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.63|19.63	3.863064|3.863064	0.71949|0.71949	.|.	.|.	ENSG00000135049|ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109|ENST00000432218	T;T;T|T	0.21932|0.12147	2.02;2.02;1.98|2.71	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	0.093742|.	0.64402|.	D|.	0.000001|.	T|T	0.14614|0.14614	0.0353|0.0353	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	P;P;P|B	0.46395|0.06786	0.804;0.877;0.589|0.001	P;B;B|B	0.44860|0.04013	0.462;0.339;0.114|0.001	T|T	0.04229|0.04229	-1.0967|-1.0967	10|9	0.52906|0.72032	T|D	0.07|0.01	-30.5354|-30.5354	20.2566|20.2566	0.98424|0.98424	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1188;1176;1136|624	Q9UPW5-3;Q9UPW5;Q9UPW5-2|B4DHX2	.;CBPC1_HUMAN;.|.	K|I	1176;1136;1188|624	ENSP00000349592:E1176K;ENSP00000365251:E1136K;ENSP00000365277:E1188K|ENSP00000402804:M624I	ENSP00000349592:E1176K|ENSP00000402804:M624I	E|M	-|-	1|3	0|0	AGTPBP1|AGTPBP1	87351999|87351999	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	5.985000|5.985000	0.70556|0.70556	2.793000|2.793000	0.96121|0.96121	0.561000|0.561000	0.74099|0.74099	GAA|ATG		0.383	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		7	50	0	0	0	1	0	7	50				
DDX31	64794	broad.mit.edu	37	9	135501125	135501125	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr9:135501125C>T	ENST00000372159.3	-	17	2105	c.1954G>A	c.(1954-1956)Gag>Aag	p.E652K	DDX31_ENST00000372153.1_Intron|DDX31_ENST00000438527.3_Missense_Mutation_p.E523K	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	652	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		ATCTTAATCTCAGAAACGCTG	0.398																																						ENST00000372159.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(1954-1956)Gag>Aag		DEAD (Asp-Glu-Ala-Asp) box polypeptide 31							92.0	88.0	89.0					9																	135501125		2203	4300	6503	SO:0001583	missense	64794					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr9:135501125C>T	AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"""DEAD-boxes"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16715	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 25"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"""				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.1954G>A	9.37:g.135501125C>T	ENSP00000361232:p.Glu652Lys					DDX31_ENST00000438527.3_Missense_Mutation_p.E523K|DDX31_ENST00000372153.1_Intron	p.E652K	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)	17	2105	-			652			Helicase C-terminal.		Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Missense_Mutation	SNP	ENST00000372159.3	37	c.1954G>A	CCDS6951.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159577	0.94686	.	.	ENSG00000125485	ENST00000372159;ENST00000372155;ENST00000438527	T;T	0.02763	4.19;4.17	5.87	5.87	0.94306	Helicase, C-terminal (1);	0.110931	0.64402	D	0.000004	T	0.11707	0.0285	L	0.45137	1.4	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.00349	-1.1798	10	0.72032	D	0.01	-33.6124	19.267	0.93990	0.0:1.0:0.0:0.0	.	652	Q9H8H2	DDX31_HUMAN	K	652;652;523	ENSP00000361232:E652K;ENSP00000387730:E523K	ENSP00000361228:E652K	E	-	1	0	DDX31	134490946	1.000000	0.71417	0.987000	0.45799	0.944000	0.59088	6.227000	0.72282	2.788000	0.95919	0.650000	0.86243	GAG		0.398	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620		4	27	0	0	0	1	0	4	27				
SPANXN3	139067	broad.mit.edu	37	X	142596802	142596802	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chrX:142596802C>A	ENST00000370503.2	-	2	351	c.268G>T	c.(268-270)Gac>Tac	p.D90Y	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	90										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGATAAGTCTACGCCTTCG	0.438																																						ENST00000370503.2																			0				endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14						c.(268-270)Gac>Tac		SPANX family, member N3							219.0	181.0	194.0					X																	142596802		2203	4300	6503	SO:0001583	missense	139067							g.chrX:142596802C>A		CCDS35418.1	Xq27.3	2012-06-12			ENSG00000189252	ENSG00000189252			33176	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 8"""	300666				14973187, 17012309	Standard	NM_001009609		Approved	SPANX-N3, CT11.8	uc004fbw.3	Q5MJ09	OTTHUMG00000022582	ENST00000370503.2:c.268G>T	X.37:g.142596802C>A	ENSP00000359534:p.Asp90Tyr					GS1-256O22.5_ENST00000431432.1_RNA	p.D90Y	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN			2	351	-	Acute lymphoblastic leukemia(192;6.56e-05)		90					Q0ZNK4	Missense_Mutation	SNP	ENST00000370503.2	37	c.268G>T	CCDS35418.1	.	.	.	.	.	.	.	.	.	.	c	9.441	1.087982	0.20390	.	.	ENSG00000189252	ENST00000370503	T	0.08370	3.1	0.73	-0.238	0.13055	.	.	.	.	.	T	0.11452	0.0279	L	0.40543	1.245	0.09310	N	1	P	0.47484	0.896	P	0.52514	0.701	T	0.20840	-1.0263	8	0.72032	D	0.01	.	.	.	.	.	90	Q5MJ09	SPXN3_HUMAN	Y	90	ENSP00000359534:D90Y	ENSP00000359534:D90Y	D	-	1	0	SPANXN3	142424468	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.089000	0.11180	-0.152000	0.11156	0.274000	0.19336	GAC		0.438	SPANXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058620.2	NM_001009609		29	135	1	0	2.65835e-16	1	2.89119e-16	29	135				
FSTL5	56884	broad.mit.edu	37	4	162680600	162680600	+	Silent	SNP	G	G	A	rs374948632		TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr4:162680600G>A	ENST00000306100.5	-	6	1126	c.690C>T	c.(688-690)gaC>gaT	p.D230D	FSTL5_ENST00000427802.2_Silent_p.D229D|FSTL5_ENST00000536695.1_Silent_p.D229D|FSTL5_ENST00000379164.4_Silent_p.D229D	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	230	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CCAGGTGCTTGTCAGCATTAA	0.333																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(688-690)gaC>gaT		follistatin-like 5							93.0	101.0	98.0					4																	162680600		2203	4299	6502	SO:0001819	synonymous_variant	56884					extracellular region	calcium ion binding	g.chr4:162680600G>A	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.690C>T	4.37:g.162680600G>A						FSTL5_ENST00000427802.2_Silent_p.D229D|FSTL5_ENST00000379164.4_Silent_p.D229D|FSTL5_ENST00000536695.1_Silent_p.D229D	p.D230D	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	6	1126	-	all_hematologic(180;0.24)		230			EF-hand 2.		E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	ENST00000306100.5	37	c.690C>T	CCDS3802.1																																																																																				0.333	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		24	24	0	0	0	1	0	24	24				
MYC	4609	broad.mit.edu	37	8	128750945	128750945	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr8:128750945C>T	ENST00000259523.6	+	2	1642	c.437C>T	c.(436-438)tCa>tTa	p.S146L	MYC_ENST00000524013.1_Missense_Mutation_p.S160L|MYC_ENST00000377970.2_Missense_Mutation_p.S161L			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	146					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	AAGCTCGTCTCAGAGAAGCTG	0.622		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377970.2		3		Dom	yes		8	8q24.12-q24.13	4609	"""A, T"""	v-myc myelocytomatosis viral oncogene homolog (avian)			"""L, E"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""		"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16						c.(481-483)tCa>tTa		v-myc avian myelocytomatosis viral oncogene homolog							33.0	37.0	36.0					8																	128750945		2203	4300	6503	SO:0001583	missense	4609				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:128750945C>T		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"""Basic helix-loop-helix proteins"""	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000259523.6:c.437C>T	8.37:g.128750945C>T	ENSP00000259523:p.Ser146Leu		OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1567	MYC_ENST00000259523.6_Missense_Mutation_p.S146L|MYC_ENST00000524013.1_Missense_Mutation_p.S160L	p.S161L	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	2	992	+	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	146					A8WFE7|P01107|Q14026	Missense_Mutation	SNP	ENST00000259523.6	37	c.482C>T		.	.	.	.	.	.	.	.	.	.	C	32	5.135438	0.94517	.	.	ENSG00000136997	ENST00000259523;ENST00000517291;ENST00000377970;ENST00000524013;ENST00000454617	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	4.66	4.66	0.58398	Transcription regulator Myc, N-terminal (1);	0.123354	0.52532	D	0.000076	T	0.54175	0.1842	M	0.79475	2.455	0.80722	D	1	D	0.58970	0.984	P	0.60173	0.87	T	0.60702	-0.7211	10	0.87932	D	0	-10.0086	17.0763	0.86587	0.0:1.0:0.0:0.0	.	146	P01106	MYC_HUMAN	L	146;160;161;160;127	ENSP00000259523:S146L;ENSP00000429441:S160L;ENSP00000367207:S161L;ENSP00000430235:S160L	ENSP00000259523:S146L	S	+	2	0	MYC	128820127	1.000000	0.71417	0.898000	0.35279	0.767000	0.43475	4.555000	0.60767	2.583000	0.87209	0.561000	0.74099	TCA		0.622	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000250278.1			17	20	0	0	0	1	0	17	20				
NLRP1	22861	broad.mit.edu	37	17	5463006	5463006	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr17:5463006C>G	ENST00000572272.1	-	4	1009	c.1010G>C	c.(1009-1011)gGa>gCa	p.G337A	NLRP1_ENST00000354411.3_Missense_Mutation_p.G337A|NLRP1_ENST00000262467.5_Missense_Mutation_p.G337A|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000345221.3_Missense_Mutation_p.G337A|NLRP1_ENST00000269280.4_Missense_Mutation_p.G337A|NLRP1_ENST00000577119.1_Missense_Mutation_p.G337A			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	337	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				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)				CTTCCCAATTCCAGCAGCCCC	0.542																																						ENST00000345221.3																			0				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						c.(1009-1011)gGa>gCa		NLR family, pyrin domain containing 1							138.0	142.0	141.0					17																	5463006		2203	4300	6503	SO:0001583	missense	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5463006C>G	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.1010G>C	17.37:g.5463006C>G	ENSP00000460475:p.Gly337Ala					NLRP1_ENST00000572272.1_Missense_Mutation_p.G337A|NLRP1_ENST00000577119.1_Missense_Mutation_p.G337A|NLRP1_ENST00000354411.3_Missense_Mutation_p.G337A|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.G337A|NLRP1_ENST00000269280.4_Missense_Mutation_p.G337A	p.G337A	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN			4	1564	-		Colorectal(1115;3.48e-05)	337			NACHT.		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.1010G>C	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981183	0.53827	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	D;D;D;D;D	0.99105	-5.43;-5.43;-5.43;-5.43;-5.43	4.14	3.13	0.36017	NACHT nucleoside triphosphatase (1);	0.196190	0.25487	N	0.030321	D	0.99272	0.9746	M	0.90870	3.155	0.39448	D	0.967353	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.99851	1.1072	10	0.87932	D	0	.	9.7432	0.40431	0.0:0.7885:0.2115:0.0	.	337;337;337;337;337	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	A	337	ENSP00000442029:G337A;ENSP00000262467:G337A;ENSP00000269280:G337A;ENSP00000346390:G337A;ENSP00000324366:G337A	ENSP00000262467:G337A	G	-	2	0	NLRP1	5403730	0.961000	0.32948	0.306000	0.25113	0.525000	0.34531	5.345000	0.65987	1.039000	0.40074	0.650000	0.86243	GGA		0.542	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		35	137	0	0	0	1	0	35	137				
KIAA1522	57648	broad.mit.edu	37	1	33233462	33233462	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr1:33233462C>T	ENST00000373480.1	+	2	236	c.133C>T	c.(133-135)Cac>Tac	p.H45Y	KIAA1522_ENST00000294521.3_Missense_Mutation_p.H45Y|KIAA1522_ENST00000401073.2_Missense_Mutation_p.H104Y|KIAA1522_ENST00000373481.3_Missense_Mutation_p.H56Y	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	45										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AGTGGATGAGCACCAGGACAA	0.597																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(310-312)Cac>Tac		KIAA1522							84.0	89.0	87.0					1																	33233462		1957	4134	6091	SO:0001583	missense	57648							g.chr1:33233462C>T	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.133C>T	1.37:g.33233462C>T	ENSP00000362579:p.His45Tyr					KIAA1522_ENST00000373481.3_Missense_Mutation_p.H56Y|KIAA1522_ENST00000373480.1_Missense_Mutation_p.H45Y|KIAA1522_ENST00000294521.3_Missense_Mutation_p.H45Y	p.H104Y	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN			2	380	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	45					B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	c.310C>T	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	C	8.230	0.804458	0.16467	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000294521;ENST00000373480	T;T;T;T	0.30182	2.78;2.78;1.54;2.79	5.03	5.03	0.67393	.	0.560897	0.16989	N	0.191378	T	0.30947	0.0781	L	0.40543	1.245	0.23708	N	0.997055	B;D;B;D	0.54772	0.053;0.968;0.012;0.968	B;P;B;P	0.46758	0.015;0.526;0.015;0.526	T	0.12041	-1.0563	10	0.30854	T	0.27	-4.491	13.1491	0.59480	0.0:0.9199:0.0:0.0801	.	45;56;45;104	B4DQU8;Q9P206-3;Q9P206;Q9P206-2	.;.;K1522_HUMAN;.	Y	104;56;45;45	ENSP00000383851:H104Y;ENSP00000362580:H56Y;ENSP00000294521:H45Y;ENSP00000362579:H45Y	ENSP00000294521:H45Y	H	+	1	0	KIAA1522	33006049	0.822000	0.29219	1.000000	0.80357	0.980000	0.70556	2.159000	0.42339	2.515000	0.84797	0.462000	0.41574	CAC		0.597	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			16	76	0	0	0	1	0	16	76				
DNAJB8	165721	broad.mit.edu	37	3	128181846	128181846	+	Silent	SNP	C	C	T	rs200983717		TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr3:128181846C>T	ENST00000469083.1	-	2	2800	c.243G>A	c.(241-243)acG>acA	p.T81T	DNAJB8_ENST00000319153.3_Silent_p.T81T|DNAJB8-AS1_ENST00000471626.1_RNA			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	81					chaperone-mediated protein folding (GO:0061077)|negative regulation of inclusion body assembly (GO:0090084)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|protein binding involved in protein folding (GO:0044183)|unfolded protein binding (GO:0051082)			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		TGTGGTAGGGCGTGCTGGCCC	0.592																																						ENST00000469083.1																			0				kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11						c.(241-243)acG>acA		DnaJ (Hsp40) homolog, subfamily B, member 8							70.0	75.0	74.0					3																	128181846		2203	4300	6503	SO:0001819	synonymous_variant	165721				protein folding		heat shock protein binding|unfolded protein binding	g.chr3:128181846C>T		CCDS3048.1	3q21.3	2014-01-21			ENSG00000179407	ENSG00000179407		"""Heat shock proteins / DNAJ (HSP40)"""	23699	protein-coding gene	gene with protein product		611337					Standard	NM_153330		Approved	MGC33884, CT156	uc003ekk.2	Q8NHS0	OTTHUMG00000159690	ENST00000469083.1:c.243G>A	3.37:g.128181846C>T						DNAJB8_ENST00000319153.3_Silent_p.T81T	p.T81T			Q8NHS0	DNJB8_HUMAN		GBM - Glioblastoma multiforme(114;0.177)	2	2800	-			81					B3KWV7	Silent	SNP	ENST00000469083.1	37	c.243G>A	CCDS3048.1																																																																																				0.592	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356933.1	NM_153330		28	77	0	0	0	1	0	28	77				
OR11H1	81061	broad.mit.edu	37	22	16449114	16449114	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr22:16449114C>A	ENST00000252835.4	-	1	691	c.691G>T	c.(691-693)Gga>Tga	p.G231*		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	231						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(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		GTATAGGATCCAATAATAAAG	0.428																																						ENST00000252835.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11						c.(691-693)Gga>Tga		olfactory receptor, family 11, subfamily H, member 1							98.0	97.0	98.0					22																	16449114		2201	4295	6496	SO:0001587	stop_gained	81061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr22:16449114C>A	AP000535, AF399611	CCDS74807.1	22q11.1	2012-08-09			ENSG00000130538	ENSG00000130538		"""GPCR / Class A : Olfactory receptors"""	15404	protein-coding gene	gene with protein product						12213199	Standard	NM_001005239		Approved	OR22-1	uc011agd.2	Q8NG94	OTTHUMG00000030069	ENST00000252835.4:c.691G>T	22.37:g.16449114C>A	ENSP00000252835:p.Gly231*						p.G231*	NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)	1	691	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)	231					Q6IEX0|Q96R32	Nonsense_Mutation	SNP	ENST00000252835.4	37	c.691G>T	CCDS33594.1	.	.	.	.	.	.	.	.	.	.	c	8.811	0.935251	0.18206	.	.	ENSG00000130538	ENST00000252835	.	.	.	1.88	1.88	0.25563	.	1.024520	0.07865	N	0.966947	.	.	.	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	9.9058	0.41375	0.0:1.0:0.0:0.0	.	.	.	.	X	231	.	ENSP00000252835:G231X	G	-	1	0	OR11H1	14829114	0.000000	0.05858	0.829000	0.32907	0.167000	0.22549	0.197000	0.17197	0.999000	0.39023	0.368000	0.22195	GGA		0.428	OR11H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074923.2	NM_001005239		28	98	1	0	5.45727e-16	1	5.89227e-16	28	98				
SIGLEC11	114132	broad.mit.edu	37	19	50453366	50453366	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr19:50453366C>T	ENST00000447370.2	-	11	2048	c.1958G>A	c.(1957-1959)aGg>aAg	p.R653K	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.R557K|CTC-326K19.6_ENST00000451973.1_Intron|U3_ENST00000408198.1_RNA	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	653					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CTCCCAGAGCCTCAGGCCCTG	0.667																																						ENST00000447370.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32						c.(1957-1959)aGg>aAg		sialic acid binding Ig-like lectin 11							35.0	36.0	36.0					19																	50453366		2202	4300	6502	SO:0001583	missense	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50453366C>T	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1958G>A	19.37:g.50453366C>T	ENSP00000412361:p.Arg653Lys					CTC-326K19.6_ENST00000451973.1_Intron|SIGLEC11_ENST00000426971.2_Missense_Mutation_p.R557K	p.R653K	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	11	2048	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	653						Missense_Mutation	SNP	ENST00000447370.2	37	c.1958G>A	CCDS12790.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.359|1.359	-0.589330|-0.589330	0.03799|0.03799	.|.	.|.	ENSG00000161640|ENSG00000161640	ENST00000426971|ENST00000447370;ENST00000458019	.|T	.|0.05258	.|3.47	3.97|3.97	0.668|0.668	0.17912|0.17912	.|.	.|.	.|.	.|.	.|.	T|T	0.03095|0.03095	0.0091|0.0091	N|N	0.20357|0.20357	0.565|0.565	0.09310|0.09310	N|N	1|1	.|P;B	.|0.38250	.|0.624;0.009	.|B;B	.|0.33960	.|0.173;0.01	T|T	0.40213|0.40213	-0.9575|-0.9575	5|9	.|0.10377	.|T	.|0.69	.|.	5.3693|5.3693	0.16131|0.16131	0.0:0.6274:0.0:0.3726|0.0:0.6274:0.0:0.3726	.|.	.|557;653	.|Q96RL6-2;Q96RL6	.|.;SIG11_HUMAN	S|K	547|653;557	.|ENSP00000412361:R653K	.|ENSP00000412361:R653K	G|R	-|-	1|2	0|0	SIGLEC11|SIGLEC11	55145178|55145178	0.007000|0.007000	0.16637|0.16637	0.007000|0.007000	0.13788|0.13788	0.004000|0.004000	0.04260|0.04260	0.179000|0.179000	0.16840|0.16840	0.413000|0.413000	0.25759|0.25759	0.655000|0.655000	0.94253|0.94253	GGC|AGG		0.667	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		9	27	0	0	0	1	0	9	27				
HEMGN	55363	broad.mit.edu	37	9	100692729	100692729	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr9:100692729T>G	ENST00000259456.3	-	4	1091	c.948A>C	c.(946-948)caA>caC	p.Q316H		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	316					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				CAGCTGATTCTTGGTGTGTTT	0.368																																						ENST00000259456.3																			0				NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27						c.(946-948)caA>caC		hemogen							305.0	293.0	297.0					9																	100692729		2203	4300	6503	SO:0001583	missense	55363				cell differentiation|multicellular organismal development			g.chr9:100692729T>G	AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.948A>C	9.37:g.100692729T>G	ENSP00000259456:p.Gln316His						p.Q316H	NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN			4	1091	-		Acute lymphoblastic leukemia(62;0.0559)	316					Q6XAR3|Q86XY5|Q9NPC0	Missense_Mutation	SNP	ENST00000259456.3	37	c.948A>C	CCDS6731.1	.	.	.	.	.	.	.	.	.	.	T	10.68	1.417446	0.25552	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	5.61	1.81	0.25067	.	0.647643	0.14958	N	0.288539	T	0.28896	0.0717	L	0.51422	1.61	0.28893	N	0.893746	P	0.43287	0.802	B	0.40677	0.337	T	0.18681	-1.0329	9	0.51188	T	0.08	-0.0136	4.1768	0.10356	0.1553:0.1359:0.0:0.7088	.	316	Q9BXL5	HEMGN_HUMAN	H	316	.	ENSP00000259456:Q316H	Q	-	3	2	HEMGN	99732550	0.465000	0.25815	0.844000	0.33320	0.233000	0.25261	0.044000	0.13992	0.521000	0.28445	0.533000	0.62120	CAA		0.368	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	NM_197978		31	128	0	0	0	1	0	31	128				
EPHA5	2044	broad.mit.edu	37	4	66356240	66356240	+	Silent	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr4:66356240G>A	ENST00000273854.3	-	5	1857	c.1257C>T	c.(1255-1257)agC>agT	p.S419S	EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000511294.1_Silent_p.S419S|EPHA5_ENST00000354839.4_Silent_p.S419S	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	419	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TTTTCAGGCCGCTTTGCCGGG	0.502										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(1255-1257)agC>agT		EPH receptor A5							126.0	101.0	110.0					4																	66356240		2203	4300	6503	SO:0001819	synonymous_variant	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66356240G>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1257C>T	4.37:g.66356240G>A		TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Silent_p.S419S|EPHA5_ENST00000354839.4_Silent_p.S419S|EPHA5_ENST00000432638.2_Intron	p.S419S	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			5	1857	-			419			Fibronectin type-III 1.		Q7Z3F2	Silent	SNP	ENST00000273854.3	37	c.1257C>T	CCDS3513.1																																																																																				0.502	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		7	50	0	0	0	1	0	7	50				
ZEB1	6935	broad.mit.edu	37	10	31809262	31809262	+	Silent	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr10:31809262G>A	ENST00000320985.10	+	7	1109	c.999G>A	c.(997-999)gaG>gaA	p.E333E	ZEB1_ENST00000361642.5_Silent_p.E334E|ZEB1_ENST00000560721.2_Silent_p.E313E|ZEB1_ENST00000446923.2_Silent_p.E317E|ZEB1_ENST00000542815.3_Silent_p.E266E|ZEB1_ENST00000559858.1_3'UTR			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	333					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAAGATAGAGAATAAACCCC	0.433																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(949-951)gaG>gaA		zinc finger E-box binding homeobox 1							107.0	110.0	109.0					10																	31809262		2203	4300	6503	SO:0001819	synonymous_variant	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31809262G>A	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.999G>A	10.37:g.31809262G>A						ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Silent_p.E266E|ZEB1_ENST00000320985.10_Silent_p.E333E|ZEB1_ENST00000361642.5_Silent_p.E334E|ZEB1_ENST00000560721.2_Silent_p.E313E	p.E317E	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			7	1342	+		Prostate(175;0.0156)	333					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Silent	SNP	ENST00000320985.10	37	c.951G>A	CCDS7169.1																																																																																				0.433	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		13	36	0	0	0	1	0	13	36				
ATRNL1	26033	broad.mit.edu	37	10	116975496	116975496	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr10:116975496G>T	ENST00000355044.3	+	9	1516	c.1390G>T	c.(1390-1392)Gta>Tta	p.V464L		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	464					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AGGAGCTATTGTACAAGGTGG	0.313																																						ENST00000355044.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(1390-1392)Gta>Tta		attractin-like 1							102.0	89.0	93.0					10																	116975496		2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:116975496G>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.1390G>T	10.37:g.116975496G>T	ENSP00000347152:p.Val464Leu						p.V464L	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	9	1516	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	464					O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.1390G>T	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.251330	0.80135	.	.	ENSG00000107518	ENST00000355044	T	0.65549	-0.16	5.42	5.42	0.78866	Kelch-type beta propeller (1);	0.118865	0.56097	D	0.000028	T	0.60196	0.2250	L	0.54323	1.7	0.80722	D	1	B	0.29037	0.231	B	0.25140	0.058	T	0.58601	-0.7608	10	0.42905	T	0.14	-5.3803	19.2245	0.93812	0.0:0.0:1.0:0.0	.	464	Q5VV63	ATRN1_HUMAN	L	464	ENSP00000347152:V464L	ENSP00000347152:V464L	V	+	1	0	ATRNL1	116965486	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	5.594000	0.67557	2.558000	0.86282	0.603000	0.83216	GTA		0.313	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		6	30	1	0	0.0293803	1	0.029984	6	30				
ABTB1	80325	broad.mit.edu	37	3	127399121	127399121	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr3:127399121C>T	ENST00000232744.8	+	12	1326	c.1240C>T	c.(1240-1242)Cgg>Tgg	p.R414W	ABTB1_ENST00000468137.1_Missense_Mutation_p.R272W|ABTB1_ENST00000453791.2_Missense_Mutation_p.R272W|ABTB1_ENST00000393363.3_Missense_Mutation_p.R272W					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						GCTGGTGGAGCGGGAGGACTT	0.662																																						ENST00000468137.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						c.(814-816)Cgg>Tgg		ankyrin repeat and BTB (POZ) domain containing 1							43.0	40.0	41.0					3																	127399121		2203	4298	6501	SO:0001583	missense	80325					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity	g.chr3:127399121C>T	AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.1240C>T	3.37:g.127399121C>T	ENSP00000232744:p.Arg414Trp					ABTB1_ENST00000232744.8_Missense_Mutation_p.R414W|ABTB1_ENST00000393363.3_Missense_Mutation_p.R272W|ABTB1_ENST00000453791.2_Missense_Mutation_p.R272W	p.R272W			Q969K4	ABTB1_HUMAN			11	1430	+			414			BTB 2.			Missense_Mutation	SNP	ENST00000232744.8	37	c.814C>T	CCDS3045.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.555612	0.27739	.	.	ENSG00000114626	ENST00000361019;ENST00000393363;ENST00000232744;ENST00000453791;ENST00000468137	T;T;T;T	0.62639	0.01;0.27;0.01;0.01	4.37	4.37	0.52481	.	0.707076	0.14027	N	0.346440	T	0.68888	0.3050	L	0.50333	1.59	0.40954	D	0.984569	D;D;D	0.76494	0.999;0.991;0.993	P;B;P	0.61477	0.889;0.328;0.613	T	0.70051	-0.4978	10	0.72032	D	0.01	-3.3436	7.9728	0.30138	0.0:0.8043:0.0:0.1957	.	250;414;389	C9JBQ0;Q969K4;Q969K4-3	.;ABTB1_HUMAN;.	W	250;272;414;272;272	ENSP00000377030:R272W;ENSP00000232744:R414W;ENSP00000412684:R272W;ENSP00000417366:R272W	ENSP00000232744:R414W	R	+	1	2	ABTB1	128881811	0.764000	0.28473	0.997000	0.53966	0.044000	0.14063	1.041000	0.30291	1.975000	0.57531	0.467000	0.42956	CGG		0.662	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356595.1	NM_172027		13	32	0	0	0	1	0	13	32				
KIAA1683	80726	broad.mit.edu	37	19	18376100	18376100	+	Silent	SNP	T	T	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr19:18376100T>C	ENST00000600328.3	-	3	2443	c.2250A>G	c.(2248-2250)acA>acG	p.T750T	KIAA1683_ENST00000392413.4_Silent_p.T750T|KIAA1683_ENST00000600359.3_Silent_p.T704T			Q9H0B3	K1683_HUMAN	KIAA1683	750						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TGGTTATGTCTGTGATCGGCT	0.612																																						ENST00000392413.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2248-2250)acA>acG		KIAA1683							105.0	99.0	101.0					19																	18376100		2203	4300	6503	SO:0001819	synonymous_variant	80726					mitochondrion		g.chr19:18376100T>C	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.2250A>G	19.37:g.18376100T>C						KIAA1683_ENST00000600359.2_Silent_p.T704T|KIAA1683_ENST00000600328.2_Silent_p.T750T	p.T750T	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN			3	2465	-			750					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Silent	SNP	ENST00000600328.3	37	c.2250A>G	CCDS32958.1																																																																																				0.612	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			31	80	0	0	0	1	0	31	80				
MARK4	57787	broad.mit.edu	37	19	45805657	45805657	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr19:45805657G>A	ENST00000262891.4	+	17	2279	c.1948G>A	c.(1948-1950)Gaa>Aaa	p.E650K	MARK4_ENST00000300843.4_Silent_p.R676R	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	650					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGATCAAACGGAAACCGCCCC	0.617																																						ENST00000262891.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1948-1950)Gaa>Aaa		MAP/microtubule affinity-regulating kinase 4							228.0	233.0	231.0					19																	45805657		2203	4300	6503	SO:0001583	missense	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45805657G>A	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1948G>A	19.37:g.45805657G>A	ENSP00000262891:p.Glu650Lys					MARK4_ENST00000300843.4_Silent_p.R676R	p.E650K	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	17	2279	+		all_neural(266;0.224)|Ovarian(192;0.231)	650					Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP	ENST00000262891.4	37	c.1948G>A	CCDS56097.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.091341	0.55968	.	.	ENSG00000007047	ENST00000262891	T	0.47177	0.85	5.4	5.4	0.78164	Kinase-associated KA1 (1);	0.069761	0.56097	D	0.000027	T	0.38081	0.1027	.	.	.	0.80722	D	1	B	0.29037	0.231	B	0.24541	0.054	T	0.25984	-1.0116	9	0.49607	T	0.09	.	11.7242	0.51700	0.0:0.0:0.8237:0.1763	.	650	Q96L34	MARK4_HUMAN	K	650	ENSP00000262891:E650K	ENSP00000262891:E650K	E	+	1	0	MARK4	50497497	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.570000	0.73996	2.539000	0.85634	0.563000	0.77884	GAA		0.617	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		28	181	0	0	0	1	0	28	181				
MED1	5469	broad.mit.edu	37	17	37566595	37566595	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr17:37566595G>C	ENST00000300651.6	-	17	2102	c.1879C>G	c.(1879-1881)Cac>Gac	p.H627D	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GGCGGCGTGTGATGAGGAGGG	0.532										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(1879-1881)Cac>Gac		mediator complex subunit 1							81.0	75.0	77.0					17																	37566595		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37566595G>C	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.1879C>G	17.37:g.37566595G>C	ENSP00000300651:p.His627Asp	HNSCC(31;0.082)				MED1_ENST00000394287.3_Intron	p.H627D	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	2102	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	627			Interaction with PPARGC1A and THRA.|Interaction with THRA.|Interaction with VDR.|Interaction with the Mediator complex and THRA.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.1879C>G	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.456136	0.43634	.	.	ENSG00000125686	ENST00000300651	T	0.45276	0.9	5.46	5.46	0.80206	.	.	.	.	.	T	0.30166	0.0756	N	0.14661	0.345	0.80722	D	1	B	0.30326	0.276	B	0.30855	0.121	T	0.07028	-1.0794	9	0.22706	T	0.39	-6.5739	19.3101	0.94184	0.0:0.0:1.0:0.0	.	627	Q15648	MED1_HUMAN	D	627	ENSP00000300651:H627D	ENSP00000300651:H627D	H	-	1	0	MED1	34820121	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.637000	0.83313	2.560000	0.86352	0.561000	0.74099	CAC		0.532	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		12	73	0	0	0	1	0	12	73				
MED13L	23389	broad.mit.edu	37	12	116446288	116446288	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr12:116446288C>A	ENST00000281928.3	-	10	2136	c.1930G>T	c.(1930-1932)Gct>Tct	p.A644S		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	644						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CTGAACTCAGCATCATCACTG	0.512																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(1930-1932)Gct>Tct		mediator complex subunit 13-like							78.0	64.0	69.0					12																	116446288		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116446288C>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.1930G>T	12.37:g.116446288C>A	ENSP00000281928:p.Ala644Ser						p.A644S	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	10	2136	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		644					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.1930G>T	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	C	9.443	1.088484	0.20390	.	.	ENSG00000123066	ENST00000281928	T	0.73897	-0.79	5.7	1.76	0.24704	.	0.521097	0.23017	N	0.052895	T	0.50120	0.1597	N	0.14661	0.345	0.28187	N	0.927917	B	0.09022	0.002	B	0.14023	0.01	T	0.30357	-0.9981	10	0.11182	T	0.66	.	6.9903	0.24751	0.0:0.5082:0.1693:0.3226	.	644	Q71F56	MD13L_HUMAN	S	644	ENSP00000281928:A644S	ENSP00000281928:A644S	A	-	1	0	MED13L	114930671	0.575000	0.26692	0.999000	0.59377	0.993000	0.82548	-0.132000	0.10467	0.369000	0.24510	-0.137000	0.14449	GCT		0.512	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			6	30	1	0	0.00198382	1	0.00203854	6	30				
RPL27	6155	broad.mit.edu	37	17	41154796	41154796	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr17:41154796G>C	ENST00000589913.1	+	3	632	c.358G>C	c.(358-360)Gag>Cag	p.E120Q	RPL27_ENST00000253788.5_Missense_Mutation_p.E120Q|RPL27_ENST00000589037.1_Missense_Mutation_p.E120Q|RPL27_ENST00000590864.1_Missense_Mutation_p.E64Q			P61353	RL27_HUMAN	ribosomal protein L27	120					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(1)	3		Breast(137;0.000717)|Ovarian(249;0.0776)		BRCA - Breast invasive adenocarcinoma(366;0.157)		CAAGTTTGAAGAGAGGTAAGT	0.448																																						ENST00000589913.1																			0				cervix(1)|endometrium(1)|kidney(1)	3						c.(358-360)Gag>Cag		ribosomal protein L27							106.0	109.0	108.0					17																	41154796		2203	4300	6503	SO:0001583	missense	6155				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	structural constituent of ribosome	g.chr17:41154796G>C		CCDS11449.1	17q21	2011-04-06				ENSG00000131469		"""L ribosomal proteins"""	10328	protein-coding gene	gene with protein product	"""60S ribosomal protein L27"""	607526				1302024	Standard	NM_000988		Approved	L27	uc002icj.3	P61353		ENST00000589913.1:c.358G>C	17.37:g.41154796G>C	ENSP00000464813:p.Glu120Gln					RPL27_ENST00000253788.5_Missense_Mutation_p.E120Q|RPL27_ENST00000590864.1_Missense_Mutation_p.E64Q|RPL27_ENST00000589037.1_Missense_Mutation_p.E120Q	p.E120Q			P61353	RL27_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.157)	3	632	+		Breast(137;0.000717)|Ovarian(249;0.0776)	120					P08526|Q4G0A9	Missense_Mutation	SNP	ENST00000589913.1	37	c.358G>C	CCDS11449.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152265	0.78001	.	.	ENSG00000131469	ENST00000253788	.	.	.	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.69895	0.3162	M	0.88640	2.97	0.80722	D	1	P	0.40360	0.714	B	0.37480	0.251	T	0.78178	-0.2305	9	0.62326	D	0.03	-19.2438	18.6113	0.91286	0.0:0.0:1.0:0.0	.	120	P61353	RL27_HUMAN	Q	120	.	ENSP00000253788:E120Q	E	+	1	0	RPL27	38408322	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.657000	0.98554	2.695000	0.91970	0.650000	0.86243	GAG		0.448	RPL27-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452472.1	NM_000988		15	76	0	0	0	1	0	15	76				
UGT1A6	54578	broad.mit.edu	37	2	234681074	234681074	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr2:234681074G>A	ENST00000305139.6	+	5	1607	c.1468G>A	c.(1468-1470)Gtg>Atg	p.V490M	UGT1A3_ENST00000482026.1_Missense_Mutation_p.V492M|UGT1A7_ENST00000373426.3_Missense_Mutation_p.V488M|UGT1A1_ENST00000608383.1_Missense_Mutation_p.V491M|UGT1A5_ENST00000373414.3_Missense_Mutation_p.V492M|UGT1A1_ENST00000609767.1_Missense_Mutation_p.V492M|UGT1A1_ENST00000373450.4_Missense_Mutation_p.V488M|UGT1A10_ENST00000344644.5_Missense_Mutation_p.V488M|UGT1A9_ENST00000354728.4_Missense_Mutation_p.V488M|UGT1A6_ENST00000373424.1_Missense_Mutation_p.V223M|UGT1A1_ENST00000609637.1_Missense_Mutation_p.V488M|UGT1A4_ENST00000373409.3_Missense_Mutation_p.V492M|UGT1A1_ENST00000608381.1_Missense_Mutation_p.V492M|UGT1A8_ENST00000305208.5_Missense_Mutation_p.V491M	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	490					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	TTCCTTGGACGTGATTGGTTT	0.567																																						ENST00000305139.6																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1468-1470)Gtg>Atg									180.0	146.0	157.0					2																	234681074		2203	4300	6503	SO:0001583	missense	54578							g.chr2:234681074G>A	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.1468G>A	2.37:g.234681074G>A	ENSP00000303174:p.Val490Met					UGT1A5_ENST00000373414.3_Missense_Mutation_p.V492M|UGT1A6_ENST00000373424.1_Missense_Mutation_p.V223M|UGT1A7_ENST00000373426.3_Missense_Mutation_p.V488M|UGT1A8_ENST00000373450.4_Missense_Mutation_p.V488M|UGT1A9_ENST00000354728.4_Missense_Mutation_p.V488M|UGT1A1_ENST00000305208.5_Missense_Mutation_p.V491M|UGT1A10_ENST00000344644.5_Missense_Mutation_p.V488M|UGT1A3_ENST00000482026.1_Missense_Mutation_p.V492M|UGT1A4_ENST00000373409.3_Missense_Mutation_p.V492M	p.V490M	NM_001072.3	NP_001063.2				Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	5	1607	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)						A6NKK6|B8K289|Q96TE7	Missense_Mutation	SNP	ENST00000305139.6	37	c.1468G>A	CCDS2507.1	.	.	.	.	.	.	.	.	.	.	G	33	5.232589	0.95207	.	.	ENSG00000242366;ENSG00000242515;ENSG00000241119;ENSG00000244122;ENSG00000167165;ENSG00000167165;ENSG00000240224;ENSG00000244474;ENSG00000243135;ENSG00000241635	ENST00000373450;ENST00000344644;ENST00000354728;ENST00000373426;ENST00000373424;ENST00000305139;ENST00000373414;ENST00000373409;ENST00000482026;ENST00000305208	T;T;T;T;T;T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.89729	0.6799	H	0.95574	3.69	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;0.999;1.0;1.0;1.0;0.999;0.999;1.0	D	0.91931	0.5555	10	0.87932	D	0	.	20.1338	0.98010	0.0:0.0:1.0:0.0	.	491;492;492;492;490;488;488;488;488	P22309;P35503;P22310;P35504;P19224;Q9HAW7;O60656;Q9HAW8;Q9HAW9	UD11_HUMAN;UD13_HUMAN;UD14_HUMAN;UD15_HUMAN;UD16_HUMAN;UD17_HUMAN;UD19_HUMAN;UD110_HUMAN;UD18_HUMAN	M	488;488;488;488;223;490;492;492;492;491	ENSP00000362549:V488M;ENSP00000343838:V488M;ENSP00000346768:V488M;ENSP00000362525:V488M;ENSP00000362523:V223M;ENSP00000303174:V490M;ENSP00000362513:V492M;ENSP00000362508:V492M;ENSP00000418532:V492M;ENSP00000304845:V491M	ENSP00000343838:V488M	V	+	1	0	UGT1A7;UGT1A6;UGT1A10;UGT1A9;UGT1A8;UGT1A3;UGT1A5;UGT1A4;UGT1A1	234345813	1.000000	0.71417	0.968000	0.41197	0.913000	0.54294	9.602000	0.98312	2.770000	0.95276	0.655000	0.94253	GTG		0.567	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862		29	78	0	0	0	1	0	29	78				
GPRASP2	114928	broad.mit.edu	37	X	101971737	101971737	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chrX:101971737T>A	ENST00000535209.1	+	4	2771	c.1940T>A	c.(1939-1941)cTt>cAt	p.L647H	GPRASP2_ENST00000543253.1_Missense_Mutation_p.L647H|GPRASP2_ENST00000332262.5_Missense_Mutation_p.L647H			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	647						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						GAAACCTTGCTTAATTATCCA	0.348																																						ENST00000543253.1																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(1939-1941)cTt>cAt		G protein-coupled receptor associated sorting protein 2							90.0	80.0	83.0					X																	101971737		2203	4300	6503	SO:0001583	missense	114928							g.chrX:101971737T>A	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.1940T>A	X.37:g.101971737T>A	ENSP00000437394:p.Leu647His					GPRASP2_ENST00000332262.5_Missense_Mutation_p.L647H|GPRASP2_ENST00000535209.1_Missense_Mutation_p.L647H	p.L647H	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1					5	2859	+								D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	c.1940T>A	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.621614	0.46736	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.41065	1.01;1.01;1.01	4.12	4.12	0.48240	Armadillo-like helical (1);Armadillo-type fold (1);	0.189117	0.26187	N	0.025839	T	0.57946	0.2088	M	0.66939	2.045	0.40910	D	0.984221	D	0.89917	1.0	D	0.74348	0.983	T	0.62291	-0.6885	10	0.87932	D	0	.	8.5956	0.33714	0.0:0.0:0.0:1.0	.	647	Q96D09	GASP2_HUMAN	H	647	ENSP00000437872:L647H;ENSP00000437394:L647H;ENSP00000339057:L647H	ENSP00000339057:L647H	L	+	2	0	GPRASP2	101858393	1.000000	0.71417	0.981000	0.43875	0.957000	0.61999	2.995000	0.49441	1.849000	0.53698	0.417000	0.27973	CTT		0.348	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		14	47	0	0	0	1	0	14	47				
TAS2R16	50833	broad.mit.edu	37	7	122635251	122635251	+	Silent	SNP	A	A	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr7:122635251A>T	ENST00000249284.2	-	1	503	c.438T>A	c.(436-438)atT>atA	p.I146I		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	146					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGTAATTCCCAATAGCTGAAG	0.393																																						ENST00000249284.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(436-438)atT>atA		taste receptor, type 2, member 16							145.0	139.0	141.0					7																	122635251		2203	4300	6503	SO:0001819	synonymous_variant	50833				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	g.chr7:122635251A>T	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.438T>A	7.37:g.122635251A>T							p.I146I	NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN			1	503	-			146					A4D0X2|Q502V3|Q549U8|Q645W1	Silent	SNP	ENST00000249284.2	37	c.438T>A	CCDS5785.1																																																																																				0.393	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		11	69	0	0	0	1	0	11	69				
OR2B6	26212	broad.mit.edu	37	6	27925589	27925589	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr6:27925589G>C	ENST00000244623.1	+	1	571	c.571G>C	c.(571-573)Gag>Cag	p.E191Q		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCTTGTGTTGAGACAACAGC	0.458																																						ENST00000244623.1																			0				endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(571-573)Gag>Cag		olfactory receptor, family 2, subfamily B, member 6							181.0	177.0	178.0					6																	27925589		2203	4300	6503	SO:0001583	missense	26212				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27925589G>C	U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"""GPCR / Class A : Olfactory receptors"""	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.571G>C	6.37:g.27925589G>C	ENSP00000244623:p.Glu191Gln						p.E191Q	NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN			1	571	+			191					O43883|Q6IF89|Q9H5B0	Missense_Mutation	SNP	ENST00000244623.1	37	c.571G>C	CCDS4642.1	.	.	.	.	.	.	.	.	.	.	g	8.245	0.807791	0.16467	.	.	ENSG00000124657	ENST00000244623	T	0.00130	8.69	3.55	2.66	0.31614	GPCR, rhodopsin-like superfamily (1);	0.481200	0.14549	U	0.312791	T	0.00039	0.0001	L	0.27053	0.805	0.09310	N	1	B	0.26602	0.154	B	0.34346	0.18	T	0.31558	-0.9939	10	0.87932	D	0	.	4.7308	0.12964	0.261:0.0:0.739:0.0	.	191	P58173	OR2B6_HUMAN	Q	191	ENSP00000244623:E191Q	ENSP00000244623:E191Q	E	+	1	0	OR2B6	28033568	0.814000	0.29104	0.570000	0.28473	0.344000	0.29017	1.335000	0.33839	1.898000	0.54952	0.467000	0.42956	GAG		0.458	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040165.1			38	117	0	0	0	1	0	38	117				
RNF217	154214	broad.mit.edu	37	6	125283974	125283974	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr6:125283974C>G	ENST00000521654.2	+	1	284	c.284C>G	c.(283-285)cCt>cGt	p.P95R	RNF217_ENST00000560949.1_5'UTR|RP11-510H23.1_ENST00000439075.1_RNA			Q8TC41	RN217_HUMAN	ring finger protein 217	95					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		CTCACCGGGCCTCTCAATCCC	0.687																																						ENST00000521654.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11						c.(283-285)cCt>cGt		ring finger protein 217							37.0	39.0	38.0					6																	125283974		876	1991	2867	SO:0001583	missense	154214				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr6:125283974C>G	BC026087	CCDS5129.1, CCDS69191.1	6q22.33	2014-07-15	2007-08-20	2007-08-20	ENSG00000146373	ENSG00000146373		"""RING-type (C3HC4) zinc fingers"""	21487	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 172"", ""IBR domain containing 1"""	C6orf172, IBRDC1			Standard	NM_001286398		Approved	MGC26996, dJ84N20.1	uc003pzs.3	Q8TC41	OTTHUMG00000015504	ENST00000521654.2:c.284C>G	6.37:g.125283974C>G	ENSP00000428698:p.Pro95Arg					RNF217_ENST00000560949.1_5'UTR|RP11-510H23.1_ENST00000439075.1_RNA	p.P95R			Q8TC41	RN217_HUMAN	LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)	1	284	+			0					H7C5V4|Q5TCA4|Q9BX48	Missense_Mutation	SNP	ENST00000521654.2	37	c.284C>G																																																																																					0.687	RNF217-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000042063.3	NM_152553		3	21	0	0	0	1	0	3	21				
VAMP7	6845	broad.mit.edu	37	X	155171682	155171682	+	3'UTR	SNP	C	C	G			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chrX:155171682C>G	ENST00000286448.6	+	0	895				VAMP7_ENST00000262640.6_Nonsense_Mutation_p.S221*	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7						calcium ion-dependent exocytosis (GO:0017156)|endosome to lysosome transport (GO:0008333)|eosinophil degranulation (GO:0043308)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane protein transport (GO:0043001)|membrane organization (GO:0061024)|neutrophil degranulation (GO:0043312)|phagocytosis, engulfment (GO:0006911)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of protein targeting to vacuolar membrane (GO:1900483)|SNARE complex assembly (GO:0035493)|triglyceride transport (GO:0034197)|vesicle fusion (GO:0006906)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle-mediated transport (GO:0016192)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)				large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCATGTGACTCAAGCCTTTCA	0.393																																						ENST00000262640.6																			0				large_intestine(1)|lung(8)	9						c.(661-663)tCa>tGa		vesicle-associated membrane protein 7							330.0	262.0	283.0					X																	155171682		692	1591	2283	SO:0001624	3_prime_UTR_variant	6845				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding	g.chrX:155171682C>G	AJ295938	CCDS14770.4, CCDS48199.1, CCDS55548.1	Xq28 and Yq12	2013-02-13	2007-12-05	2007-12-05	ENSG00000124333	ENSG00000124333		"""Pseudoautosomal regions / PAR2"", ""Vesicle-associated membrane proteins"""	11486	protein-coding gene	gene with protein product		300053	"""synaptobrevin-like 1"""	SYBL1		8640232, 11440841	Standard	NM_001145149		Approved	VAMP-7, TI-VAMP	uc004fns.3	P51809	OTTHUMG00000022679	ENST00000286448.6:c.*67C>G	X.37:g.155171682C>G						VAMP7_ENST00000286448.6_3'UTR	p.S221*	NM_001185183.1	NP_001172112.1	P51809	VAMP7_HUMAN			7	745	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		0					Q53GY7|Q7Z409|Q9H4A7	Nonsense_Mutation	SNP	ENST00000286448.6	37	c.662C>G	CCDS14770.4	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537502	0.27475	.	.	ENSG00000124333	ENST00000262640	.	.	.	3.36	0.265	0.15612	.	1799.740000	0.00166	N	0.000000	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.7087	0.08411	0.4236:0.4445:0.0:0.1318	.	.	.	.	X	221	.	ENSP00000262640:S221X	S	+	2	0	VAMP7	154824876	0.170000	0.23016	0.000000	0.03702	0.796000	0.44982	0.149000	0.16243	-0.184000	0.10567	0.279000	0.19357	TCA		0.393	VAMP7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058843.1	NM_005638		9	21	0	0	0	1	0	9	21				
C8orf86	389649	broad.mit.edu	37	8	38385908	38385908	+	Missense_Mutation	SNP	C	C	T	rs182509871		TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr8:38385908C>T	ENST00000358138.1	-	1	272	c.248G>A	c.(247-249)cGa>cAa	p.R83Q	C8orf86_ENST00000437935.2_Missense_Mutation_p.R83Q	NM_207412.1	NP_997295.1	Q6ZUL3	CH086_HUMAN	chromosome 8 open reading frame 86	83										breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						TGGAGGCTCTCGCCAGCGGCG	0.577																																						ENST00000358138.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						c.(247-249)cGa>cAa		chromosome 8 open reading frame 86		C	GLN/ARG	5,4401	9.9+/-24.2	0,5,2198	152.0	125.0	134.0		248	2.0	0.0	8		134	0,8600		0,0,4300	no	missense	C8orf86	NM_207412.1	43	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	benign	83/224	38385908	5,13001	2203	4300	6503	SO:0001583	missense	389649							g.chr8:38385908C>T	BC137511	CCDS6108.1	8p12-p11.23	2009-03-03			ENSG00000196166	ENSG00000196166			33774	protein-coding gene	gene with protein product							Standard	NM_207412		Approved	FLJ43582	uc003xlx.1	Q6ZUL3	OTTHUMG00000163992	ENST00000358138.1:c.248G>A	8.37:g.38385908C>T	ENSP00000350856:p.Arg83Gln					C8orf86_ENST00000437935.2_Missense_Mutation_p.R83Q	p.R83Q	NM_207412.1	NP_997295.1	Q6ZUL3	CH086_HUMAN			1	272	-			83					A4QPB7	Missense_Mutation	SNP	ENST00000358138.1	37	c.248G>A	CCDS6108.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	9.869	1.198444	0.22037	0.001135	0.0	ENSG00000196166	ENST00000358138;ENST00000437935	T;T	0.56444	0.51;0.46	4.81	2.0	0.26442	.	.	.	.	.	T	0.28134	0.0694	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17930	-1.0353	9	0.27082	T	0.32	.	6.1628	0.20373	0.0:0.7102:0.1542:0.1356	.	83	Q6ZUL3	CH086_HUMAN	Q	83	ENSP00000350856:R83Q;ENSP00000389615:R83Q	ENSP00000350856:R83Q	R	-	2	0	C8orf86	38505065	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.608000	0.24223	0.327000	0.23409	-0.726000	0.03593	CGA		0.577	C8orf86-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376668.1	NM_207412		15	64	0	0	0	1	0	15	64				
SPIRE1	56907	broad.mit.edu	37	18	12454453	12454453	+	Silent	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr18:12454453G>A	ENST00000409402.4	-	13	1935	c.1668C>T	c.(1666-1668)ctC>ctT	p.L556L	SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000309836.5_Silent_p.L345L|SPIRE1_ENST00000410092.3_Silent_p.L542L|SPIRE1_ENST00000453447.2_Silent_p.L422L|SPIRE1_ENST00000383356.2_Silent_p.L383L	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1											breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						CAGTAAGAGCGAGGCATTCCA	0.448																																						ENST00000409402.4																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						c.(1666-1668)ctC>ctT		spire-type actin nucleation factor 1							155.0	142.0	146.0					18																	12454453		2203	4300	6503	SO:0001819	synonymous_variant	56907					cytoskeleton|perinuclear region of cytoplasm	actin binding	g.chr18:12454453G>A	AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"""spire homolog 1 (Drosophila)"", ""spire family actin nucleation factor 1"""			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.1668C>T	18.37:g.12454453G>A						SPIRE1_ENST00000309836.5_Silent_p.L345L|SPIRE1_ENST00000383356.2_Silent_p.L383L|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000410092.3_Silent_p.L542L|SPIRE1_ENST00000453447.2_Silent_p.L422L	p.L556L	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN			13	1935	-			556			Spir-box.			Silent	SNP	ENST00000409402.4	37	c.1668C>T	CCDS45829.1																																																																																				0.448	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333109.2	XM_290818		24	71	0	0	0	1	0	24	71				
ACTL8	81569	broad.mit.edu	37	1	18152775	18152775	+	Missense_Mutation	SNP	C	C	T	rs375817792		TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr1:18152775C>T	ENST00000375406.1	+	3	1078	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	288					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GATCTCCCTGCGCCCCCTGCT	0.642											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000375406.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(862-864)Cgc>Tgc		actin-like 8		C	CYS/ARG	0,4406		0,0,2203	38.0	42.0	40.0		862	4.0	0.0	1		40	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACTL8	NM_030812.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	288/367	18152775	1,13005	2203	4300	6503	SO:0001583	missense	81569					cytoplasm|cytoskeleton		g.chr1:18152775C>T	AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"""cancer/testis antigen 57"""						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.862C>T	1.37:g.18152775C>T	ENSP00000364555:p.Arg288Cys		OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	723		p.R288C	NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	3	1078	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	288					Q13104|Q96M75	Missense_Mutation	SNP	ENST00000375406.1	37	c.862C>T	CCDS183.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.638223	0.67130	0.0	1.16E-4	ENSG00000117148	ENST00000375406	D	0.96073	-3.9	4.94	3.97	0.46021	.	1.126640	0.06746	N	0.779096	D	0.97595	0.9212	M	0.89904	3.07	0.09310	N	1	D	0.69078	0.997	P	0.54965	0.765	D	0.91012	0.4850	10	0.87932	D	0	-11.3012	12.9757	0.58537	0.1619:0.8381:0.0:0.0	.	288	Q9H568	ACTL8_HUMAN	C	288	ENSP00000364555:R288C	ENSP00000364555:R288C	R	+	1	0	ACTL8	18025362	0.891000	0.30450	0.015000	0.15790	0.009000	0.06853	0.775000	0.26689	2.424000	0.82194	0.655000	0.94253	CGC		0.642	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1	NM_030812		12	53	0	0	0	1	0	12	53				
ITGA7	3679	broad.mit.edu	37	12	56089351	56089351	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr12:56089351C>T	ENST00000555728.1	-	15	2118	c.2090G>A	c.(2089-2091)cGc>cAc	p.R697H	ITGA7_ENST00000347027.6_Missense_Mutation_p.R647H|ITGA7_ENST00000553804.1_Missense_Mutation_p.R657H|ITGA7_ENST00000452168.2_Missense_Mutation_p.R560H|ITGA7_ENST00000394229.2_Missense_Mutation_p.R653H|ITGA7_ENST00000394230.2_Missense_Mutation_p.R657H|ITGA7_ENST00000257880.7_Missense_Mutation_p.R697H|ITGA7_ENST00000257879.6_Missense_Mutation_p.R653H			Q13683	ITA7_HUMAN	integrin, alpha 7	697					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGTACAGAAGCGGGCGCGGAC	0.587																																						ENST00000257880.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(2089-2091)cGc>cAc		integrin, alpha 7							73.0	70.0	71.0					12																	56089351		2203	4300	6503	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56089351C>T		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.2090G>A	12.37:g.56089351C>T	ENSP00000452387:p.Arg697His					ITGA7_ENST00000452168.2_Missense_Mutation_p.R560H|ITGA7_ENST00000553804.1_Missense_Mutation_p.R657H|ITGA7_ENST00000394230.2_Missense_Mutation_p.R657H|ITGA7_ENST00000347027.6_Missense_Mutation_p.R647H|ITGA7_ENST00000555728.1_Missense_Mutation_p.R697H|ITGA7_ENST00000394229.2_Missense_Mutation_p.R653H|ITGA7_ENST00000257879.6_Missense_Mutation_p.R653H	p.R697H			Q13683	ITA7_HUMAN			15	2309	-			697					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.2090G>A		.	.	.	.	.	.	.	.	.	.	C	14.25	2.480799	0.44044	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000555728	T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	4.84	2.98	0.34508	Integrin alpha-2 (1);	0.244148	0.36815	N	0.002390	T	0.35566	0.0936	M	0.62723	1.935	0.28520	N	0.913133	B;B;B;B	0.22604	0.003;0.004;0.005;0.072	B;B;B;B	0.19391	0.008;0.013;0.005;0.025	T	0.24119	-1.0169	10	0.28530	T	0.3	.	7.2656	0.26227	0.0:0.7884:0.0:0.2116	.	560;697;657;716	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	H	657;653;647;560;697;657;653;697	ENSP00000452120:R657H;ENSP00000257879:R653H;ENSP00000343009:R647H;ENSP00000393844:R560H;ENSP00000257880:R697H;ENSP00000377777:R657H;ENSP00000377776:R653H;ENSP00000452387:R697H	ENSP00000257879:R653H	R	-	2	0	ITGA7	54375618	0.009000	0.17119	0.956000	0.39512	0.938000	0.57974	0.130000	0.15850	0.563000	0.29222	-0.291000	0.09656	CGC		0.587	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		10	63	0	0	0	1	0	10	63				
SP140L	93349	broad.mit.edu	37	2	231264899	231264899	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr2:231264899G>A	ENST00000415673.2	+	15	1341	c.1255G>A	c.(1255-1257)Gac>Aac	p.D419N	SP140L_ENST00000444636.1_Missense_Mutation_p.D419N|SP140L_ENST00000243810.6_Missense_Mutation_p.D419N|SP140L_ENST00000396563.4_Missense_Mutation_p.D384N	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	419						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						GTTCTGTTGCGACACTTGTTC	0.498																																						ENST00000243810.6																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						c.(1255-1257)Gac>Aac		SP140 nuclear body protein-like							182.0	188.0	186.0					2																	231264899		2100	4245	6345	SO:0001583	missense	93349					nucleus	DNA binding|metal ion binding	g.chr2:231264899G>A	BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"""Zinc fingers, PHD-type"""	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.1255G>A	2.37:g.231264899G>A	ENSP00000397911:p.Asp419Asn					SP140L_ENST00000415673.2_Missense_Mutation_p.D419N|SP140L_ENST00000396563.4_Missense_Mutation_p.D384N|SP140L_ENST00000444636.1_Missense_Mutation_p.D419N	p.D419N			Q9H930	LY10L_HUMAN			15	1255	+			419					Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	ENST00000415673.2	37	c.1255G>A	CCDS46538.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921021	0.33908	.	.	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563	D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72	3.33	1.46	0.22682	.	.	.	.	.	D	0.95544	0.8552	H	0.95712	3.71	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.991;0.997	D	0.86479	0.1790	9	0.52906	T	0.07	.	3.9071	0.09186	0.1309:0.0:0.6329:0.2362	.	384;419	Q9H930-2;Q9H930-4	.;.	N	419;419;419;384	ENSP00000395195:D419N;ENSP00000397911:D419N;ENSP00000243810:D419N;ENSP00000379811:D384N	ENSP00000243810:D419N	D	+	1	0	SP140L	230973143	0.000000	0.05858	0.079000	0.20413	0.247000	0.25773	0.586000	0.23894	0.229000	0.21039	0.313000	0.20887	GAC		0.498	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402		17	49	0	0	0	1	0	17	49				
MTDH	92140	broad.mit.edu	37	8	98731338	98731338	+	Missense_Mutation	SNP	G	G	A	rs143317071	byFrequency	TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr8:98731338G>A	ENST00000336273.3	+	10	1770	c.1442G>A	c.(1441-1443)cGt>cAt	p.R481H	MTDH_ENST00000519934.1_Missense_Mutation_p.R425H	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	481					lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			TCTAAAACCCGTCCAAAACAG	0.333													G|||	2	0.000399361	0.0	0.0	5008	,	,		17778	0.0		0.001	False		,,,				2504	0.001					ENST00000336273.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1441-1443)cGt>cAt		metadherin		G	HIS/ARG	0,4406		0,0,2203	80.0	87.0	85.0		1442	4.0	1.0	8	dbSNP_134	85	2,8598	2.2+/-6.3	0,2,4298	yes	missense	MTDH	NM_178812.3	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	481/583	98731338	2,13004	2203	4300	6503	SO:0001583	missense	92140				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	g.chr8:98731338G>A	AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"""astrocyte elevated gene 1"""	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.1442G>A	8.37:g.98731338G>A	ENSP00000338235:p.Arg481His					MTDH_ENST00000519934.1_Missense_Mutation_p.R425H	p.R481H	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.178)		10	1770	+	Breast(36;2.56e-06)		481					Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Missense_Mutation	SNP	ENST00000336273.3	37	c.1442G>A	CCDS6274.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.05	2.719126	0.48622	0.0	2.33E-4	ENSG00000147649	ENST00000336273;ENST00000519934	T;T	0.46819	0.86;0.86	5.97	3.96	0.45880	.	0.410363	0.26096	N	0.026376	T	0.23249	0.0562	N	0.08118	0	0.32155	N	0.583702	B	0.18013	0.025	B	0.12156	0.007	T	0.10870	-1.0611	10	0.42905	T	0.14	-0.6312	4.3769	0.11275	0.3615:0.0:0.6385:0.0	.	481	Q86UE4	LYRIC_HUMAN	H	481;425	ENSP00000338235:R481H;ENSP00000428168:R425H	ENSP00000338235:R481H	R	+	2	0	MTDH	98800514	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.041000	0.41213	1.529000	0.49120	0.655000	0.94253	CGT		0.333	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2			19	57	0	0	0	1	0	19	57				
CFAP46	54777	broad.mit.edu	37	10	134659584	134659584	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr10:134659584G>T	ENST00000368586.5	-	44	6515	c.6415C>A	c.(6415-6417)Cag>Aag	p.Q2139K	TTC40_ENST00000263170.5_Missense_Mutation_p.Q300K	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GCCAGCCTCTGCTCCACACGG	0.677																																						ENST00000368586.5																			0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(6415-6417)Cag>Aag		tetratricopeptide repeat domain 40							16.0	19.0	18.0					10																	134659584		2187	4297	6484	SO:0001583	missense	54777							g.chr10:134659584G>T																												ENST00000368586.5:c.6415C>A	10.37:g.134659584G>T	ENSP00000357575:p.Gln2139Lys					TTC40_ENST00000263170.5_Missense_Mutation_p.Q300K	p.Q2139K	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN			44	6515	-			300						Missense_Mutation	SNP	ENST00000368586.5	37	c.6415C>A	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.953639	0.53293	.	.	ENSG00000171811	ENST00000368586;ENST00000263170	T;T	0.12569	2.87;2.67	4.38	4.38	0.52667	.	0.262171	0.25283	N	0.031788	T	0.27278	0.0669	L	0.46157	1.445	0.80722	D	1	D	0.67145	0.996	D	0.76071	0.987	T	0.00800	-1.1561	10	0.27785	T	0.31	.	12.3026	0.54882	0.0:0.0:1.0:0.0	.	300	Q8IYW2	CJ092_HUMAN	K	2139;300	ENSP00000357575:Q2139K;ENSP00000263170:Q300K	ENSP00000263170:Q300K	Q	-	1	0	C10orf93	134509574	1.000000	0.71417	1.000000	0.80357	0.491000	0.33493	2.136000	0.42121	2.258000	0.74832	0.563000	0.77884	CAG		0.677	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			5	23	1	0	0.248553	1	0.250232	5	23				
FAM188B	84182	broad.mit.edu	37	7	30831154	30831154	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr7:30831154C>T	ENST00000265299.6	+	5	1114	c.1037C>T	c.(1036-1038)gCg>gTg	p.A346V	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	346										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGGAAAGAGCGTTCAAACGG	0.557																																						ENST00000265299.6																			0				endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1036-1038)gCg>gTg		family with sequence similarity 188, member B							39.0	49.0	45.0					7																	30831154		2034	4201	6235	SO:0001583	missense	84182							g.chr7:30831154C>T	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1037C>T	7.37:g.30831154C>T	ENSP00000265299:p.Ala346Val					INMT-FAM188B_ENST00000458257.1_3'UTR	p.A346V	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN			5	1114	+			346					Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	c.1037C>T	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.003819	0.35320	.	.	ENSG00000106125	ENST00000265299	T	0.03212	4.01	4.59	2.77	0.32553	.	0.332987	0.30134	N	0.010336	T	0.03739	0.0106	L	0.59436	1.845	0.25947	N	0.982791	P	0.35793	0.521	B	0.18561	0.022	T	0.36456	-0.9747	10	0.87932	D	0	-35.3715	7.4852	0.27427	0.0:0.801:0.0:0.199	.	346	Q4G0A6	F188B_HUMAN	V	346	ENSP00000265299:A346V	ENSP00000265299:A346V	A	+	2	0	FAM188B	30797679	0.785000	0.28726	0.382000	0.26119	0.554000	0.35429	1.158000	0.31737	0.668000	0.31126	0.563000	0.77884	GCG		0.557	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		10	40	0	0	0	1	0	10	40				
MDGA2	161357	broad.mit.edu	37	14	47530496	47530496	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr14:47530496C>G	ENST00000399232.2	-	7	1638	c.1274G>C	c.(1273-1275)gGa>gCa	p.G425A	MDGA2_ENST00000439988.3_Missense_Mutation_p.G494A|MDGA2_ENST00000426342.1_Missense_Mutation_p.G196A|MDGA2_ENST00000357362.3_Missense_Mutation_p.G196A	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	425	Ig-like 4.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						ATCAGATATTCCTCCTCCCTT	0.373																																						ENST00000426342.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(586-588)gGa>gCa		MAM domain containing glycosylphosphatidylinositol anchor 2							148.0	136.0	140.0					14																	47530496		1911	4120	6031	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47530496C>G	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1274G>C	14.37:g.47530496C>G	ENSP00000382178:p.Gly425Ala					MDGA2_ENST00000439988.2_Missense_Mutation_p.G425A|MDGA2_ENST00000399232.2_Missense_Mutation_p.G494A|MDGA2_ENST00000357362.3_Missense_Mutation_p.G196A	p.G196A	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN			7	1333	-			425			Ig-like 2.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.587G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.40|17.40	3.379683|3.379683	0.61845|0.61845	.|.	.|.	ENSG00000139915|ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362|ENST00000554762	T;T;T;T|.	0.40225|.	1.04;1.04;1.04;1.04|.	5.64|5.64	5.64|5.64	0.86602|0.86602	Immunoglobulin-like (1);|.	0.000000|.	0.51477|.	U|.	0.000100|.	T|T	0.49133|0.49133	0.1539|0.1539	N|N	0.11927|0.11927	0.2|0.2	0.80722|0.80722	D|D	1|1	P|.	0.50819|.	0.939|.	P|.	0.54664|.	0.758|.	T|T	0.43294|0.43294	-0.9400|-0.9400	10|5	0.08381|.	T|.	0.77|.	.|.	18.2795|18.2795	0.90094|0.90094	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	425|.	Q7Z553|.	MDGA2_HUMAN|.	A|S	425;196;494;196|199	ENSP00000400011:G425A;ENSP00000405456:G196A;ENSP00000382178:G494A;ENSP00000349925:G196A|.	ENSP00000349925:G196A|.	G|R	-|-	2|3	0|2	MDGA2|MDGA2	46600246|46600246	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.977000|5.977000	0.70492|0.70492	2.658000|2.658000	0.90341|0.90341	0.655000|0.655000	0.94253|0.94253	GGA|AGG		0.373	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		23	114	0	0	0	1	0	23	114				
TNFSF10	8743	broad.mit.edu	37	3	172232786	172232786	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr3:172232786C>T	ENST00000241261.2	-	2	257	c.135G>A	c.(133-135)atG>atA	p.M45I	TNFSF10_ENST00000420541.2_Missense_Mutation_p.M45I	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	45					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|male gonad development (GO:0008584)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to insulin (GO:0032868)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			ACTTGTCCTGCATCTGGGTTG	0.383																																						ENST00000241261.2																			0				breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15						c.(133-135)atG>atA		tumor necrosis factor (ligand) superfamily, member 10							126.0	126.0	126.0					3																	172232786		2203	4300	6503	SO:0001583	missense	8743				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding	g.chr3:172232786C>T	U37518	CCDS3219.1, CCDS54680.1	3q26	2006-09-20			ENSG00000121858	ENSG00000121858		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11925	protein-coding gene	gene with protein product		603598				8777713, 8663110	Standard	NM_003810		Approved	TRAIL, Apo-2L, TL2, CD253	uc003fid.3	P50591	OTTHUMG00000156917	ENST00000241261.2:c.135G>A	3.37:g.172232786C>T	ENSP00000241261:p.Met45Ile					TNFSF10_ENST00000420541.2_Missense_Mutation_p.M45I	p.M45I	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		2	257	-	Ovarian(172;0.00197)|Breast(254;0.158)		45					A1Y9B3	Missense_Mutation	SNP	ENST00000241261.2	37	c.135G>A	CCDS3219.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882604	0.33255	.	.	ENSG00000121858	ENST00000241261;ENST00000420541	T;T	0.30182	1.54;1.54	5.61	1.17	0.20885	.	0.404808	0.31834	N	0.006985	T	0.24812	0.0602	M	0.61703	1.905	0.33959	D	0.645338	B;B	0.13594	0.008;0.001	B;B	0.12156	0.007;0.002	T	0.15752	-1.0426	10	0.59425	D	0.04	-11.7629	2.7815	0.05362	0.2031:0.4763:0.1097:0.2109	.	45;45	A1Y9B3;P50591	.;TNF10_HUMAN	I	45	ENSP00000241261:M45I;ENSP00000389931:M45I	ENSP00000241261:M45I	M	-	3	0	TNFSF10	173715480	0.985000	0.35326	1.000000	0.80357	0.651000	0.38670	0.097000	0.15168	0.294000	0.22547	0.655000	0.94253	ATG		0.383	TNFSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346601.1			20	84	0	0	0	1	0	20	84				
YIPF7	285525	broad.mit.edu	37	4	44638054	44638054	+	Silent	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr4:44638054C>T	ENST00000332990.5	-	3	253	c.237G>A	c.(235-237)gaG>gaA	p.E79E	YIPF7_ENST00000415895.4_Silent_p.E55E	NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	79						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						ACATGAGCATCTCTGATGGAA	0.398																																						ENST00000332990.5																			0				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						c.(235-237)gaG>gaA		Yip1 domain family, member 7							86.0	84.0	84.0					4																	44638054		1915	4144	6059	SO:0001819	synonymous_variant	285525					endoplasmic reticulum membrane|integral to membrane		g.chr4:44638054C>T	AK096895	CCDS54766.1	4p13	2008-08-07			ENSG00000177752	ENSG00000177752		"""Yip1 domain family"""	26825	protein-coding gene	gene with protein product							Standard	NM_182592		Approved	FLJ39576, FinGER9	uc021xnx.1	Q8N8F6	OTTHUMG00000160467	ENST00000332990.5:c.237G>A	4.37:g.44638054C>T							p.E79E	NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN			3	253	-			79					Q3SY21|Q3SY22	Silent	SNP	ENST00000332990.5	37	c.237G>A	CCDS54766.1	.	.	.	.	.	.	.	.	.	.	C	0.120	-1.127273	0.01770	.	.	ENSG00000177752	ENST00000415895	.	.	.	5.02	3.31	0.37934	.	.	.	.	.	T	0.47764	0.1463	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35674	-0.9779	4	.	.	.	-17.4034	4.3733	0.11258	0.0:0.5212:0.1572:0.3216	.	.	.	.	N	56	.	.	D	-	1	0	YIPF7	44332811	1.000000	0.71417	0.919000	0.36401	0.017000	0.09413	1.796000	0.38794	0.737000	0.32582	-0.806000	0.03193	GAT		0.398	YIPF7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_182592		8	32	0	0	0	1	0	8	32				
ESAM	90952	broad.mit.edu	37	11	124624128	124624128	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr11:124624128T>C	ENST00000278927.5	-	6	968	c.839A>G	c.(838-840)gAg>gGg	p.E280G	VSIG2_ENST00000326621.5_5'Flank|VSIG2_ENST00000403470.1_5'Flank|ESAM_ENST00000442070.2_Missense_Mutation_p.E101G	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	280					blood coagulation (GO:0007596)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)|single organismal cell-cell adhesion (GO:0016337)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		ATTGGCTGGCTCCTCCAGGGC	0.612																																						ENST00000278927.5																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(838-840)gAg>gGg		endothelial cell adhesion molecule							46.0	53.0	50.0					11																	124624128		2201	4299	6500	SO:0001583	missense	90952				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction		g.chr11:124624128T>C	AK075396	CCDS8453.1	11q24.2	2013-01-29			ENSG00000149564	ENSG00000149564		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17474	protein-coding gene	gene with protein product		614281				11279107, 11906820	Standard	NM_138961		Approved	W117m	uc001qav.4	Q96AP7	OTTHUMG00000151986	ENST00000278927.5:c.839A>G	11.37:g.124624128T>C	ENSP00000278927:p.Glu280Gly					ESAM_ENST00000442070.2_Missense_Mutation_p.E101G	p.E280G	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)	6	968	-	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	280					B4DVN8|Q96T50	Missense_Mutation	SNP	ENST00000278927.5	37	c.839A>G	CCDS8453.1	.	.	.	.	.	.	.	.	.	.	T	19.96	3.924182	0.73213	.	.	ENSG00000149564	ENST00000442070;ENST00000444566;ENST00000278927	T;T;T	0.42900	0.96;0.96;1.1	5.45	5.45	0.79879	.	0.231898	0.43747	D	0.000524	T	0.65554	0.2702	M	0.82517	2.595	0.58432	D	0.999999	D;D	0.71674	0.998;0.989	D;P	0.70487	0.969;0.799	T	0.70048	-0.4979	10	0.56958	D	0.05	.	13.0429	0.58910	0.0:0.0:0.0:1.0	.	101;280	B4DVN8;Q96AP7	.;ESAM_HUMAN	G	101;101;280	ENSP00000410351:E101G;ENSP00000406689:E101G;ENSP00000278927:E280G	ENSP00000278927:E280G	E	-	2	0	ESAM	124129338	1.000000	0.71417	0.989000	0.46669	0.622000	0.37654	5.169000	0.64984	2.068000	0.61886	0.533000	0.62120	GAG		0.612	ESAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324686.1	NM_138961		7	45	0	0	0	1	0	7	45				
ABCC9	10060	broad.mit.edu	37	12	22068752	22068752	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr12:22068752C>A	ENST00000261201.4	-	5	665	c.666G>T	c.(664-666)ttG>ttT	p.L222F	ABCC9_ENST00000261200.4_Missense_Mutation_p.L222F|ABCC9_ENST00000345162.2_Missense_Mutation_p.L222F	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	222					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CTTTTGACAGCAAATTCACAA	0.388																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(664-666)ttG>ttT		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						104.0	98.0	100.0					12																	22068752		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22068752C>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.666G>T	12.37:g.22068752C>A	ENSP00000261201:p.Leu222Phe					ABCC9_ENST00000345162.2_Missense_Mutation_p.L222F|ABCC9_ENST00000261201.4_Missense_Mutation_p.L222F	p.L222F	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			5	665	-			222					O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.666G>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465289	0.43839	.	.	ENSG00000069431	ENST00000261200;ENST00000261201;ENST00000345162	D;D;D	0.92048	-2.93;-2.94;-2.96	5.01	-0.136	0.13473	.	0.234654	0.35207	N	0.003368	D	0.90010	0.6881	M	0.74647	2.275	0.44995	D	0.99801	P;P	0.45474	0.849;0.859	P;B	0.45639	0.488;0.189	D	0.85073	0.0941	10	0.14252	T	0.57	-12.5412	9.8161	0.40853	0.0:0.5386:0.0:0.4614	.	222;222	O60706;O60706-2	ABCC9_HUMAN;.	F	222	ENSP00000261200:L222F;ENSP00000261201:L222F;ENSP00000261202:L222F	ENSP00000261200:L222F	L	-	3	2	ABCC9	21960019	0.996000	0.38824	0.973000	0.42090	0.976000	0.68499	0.411000	0.21115	0.058000	0.16222	-0.312000	0.09012	TTG		0.388	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		13	54	1	0	0.00185496	1	0.00191937	13	54				
AK5	26289	broad.mit.edu	37	1	78001608	78001608	+	Missense_Mutation	SNP	G	G	A	rs373612539		TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr1:78001608G>A	ENST00000354567.2	+	13	1768	c.1505G>A	c.(1504-1506)cGg>cAg	p.R502Q	AK5_ENST00000478255.1_Missense_Mutation_p.R17Q|AK5_ENST00000344720.5_Missense_Mutation_p.R476Q	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	502	Adenylate kinase 2.|LID 2. {ECO:0000250}.				ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						CAAAGGAGCCGGAGCAGCCTG	0.577																																						ENST00000344720.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						c.(1426-1428)cGg>cAg		adenylate kinase 5		G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	116.0	87.0	96.0		1505,1427	-1.6	1.0	1		96	0,8600		0,0,4300	no	missense,missense	AK5	NM_174858.2,NM_012093.3	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	502/563,476/537	78001608	1,13005	2203	4300	6503	SO:0001583	missense	26289				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	g.chr1:78001608G>A	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.1505G>A	1.37:g.78001608G>A	ENSP00000346577:p.Arg502Gln					AK5_ENST00000354567.2_Missense_Mutation_p.R502Q|AK5_ENST00000478255.1_Missense_Mutation_p.R17Q	p.R476Q	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN			13	2453	+			502					Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	c.1427G>A	CCDS675.1	.	.	.	.	.	.	.	.	.	.	G	4.094	0.015546	0.07959	2.27E-4	0.0	ENSG00000154027	ENST00000354567;ENST00000344720;ENST00000478255	T;T;T	0.74106	-0.81;-0.81;-0.81	5.02	-1.65	0.08291	.	0.454179	0.21925	N	0.067102	T	0.17534	0.0421	N	0.02721	-0.515	0.18873	N	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.39941	-0.9589	10	0.10377	T	0.69	-5.4743	6.0346	0.19699	0.5661:0.1269:0.3071:0.0	.	502	Q9Y6K8	KAD5_HUMAN	Q	502;476;17	ENSP00000346577:R502Q;ENSP00000341430:R476Q;ENSP00000433915:R17Q	ENSP00000341430:R476Q	R	+	2	0	AK5	77774196	0.001000	0.12720	0.951000	0.38953	0.312000	0.27988	0.026000	0.13599	-0.380000	0.07894	-0.417000	0.06048	CGG		0.577	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		12	24	0	0	0	1	0	12	24				
KRTAP4-11	653240	broad.mit.edu	37	17	39274214	39274214	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr17:39274214G>C	ENST00000391413.2	-	1	392	c.354C>G	c.(352-354)agC>agG	p.S118R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	118	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gtctgcagcagctggacacac	0.652																																						ENST00000391413.2																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(352-354)agC>agG		keratin associated protein 4-11							4.0	8.0	7.0					17																	39274214		642	1521	2163	SO:0001583	missense	653240					keratin filament		g.chr17:39274214G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.354C>G	17.37:g.39274214G>C	ENSP00000375232:p.Ser118Arg						p.S118R	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	392	-		Breast(137;0.000496)	118			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.354C>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	11.65	1.702454	0.30232	.	.	ENSG00000212721	ENST00000391413	T	0.01963	4.53	3.63	2.63	0.31362	.	.	.	.	.	T	0.05914	0.0154	M	0.92691	3.335	0.25757	N	0.984995	B	0.18166	0.026	B	0.19391	0.025	T	0.23013	-1.0200	9	0.37606	T	0.19	.	5.3088	0.15819	0.1185:0.2126:0.6689:0.0	.	118	Q9BYQ6	KR411_HUMAN	R	118	ENSP00000375232:S118R	ENSP00000375232:S118R	S	-	3	2	KRTAP4-11	36527740	0.000000	0.05858	0.722000	0.30670	0.015000	0.08874	0.147000	0.16202	0.630000	0.30394	-0.413000	0.06143	AGC		0.652	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			4	52	0	0	0	1	0	4	52				
CACNA2D1	781	broad.mit.edu	37	7	82072745	82072745	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr7:82072745G>C	ENST00000356253.5	-	1	286	c.31C>G	c.(31-33)Ctg>Gtg	p.L11V	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.L11V|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.L11V			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	11					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.L11V(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	AAAAGTGTCAGAGTCAAGGCC	0.672																																						ENST00000356860.3																			1	Substitution - Missense(1)	p.L11V(1)	urinary_tract(1)	breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(31-33)Ctg>Gtg		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						48.0	41.0	43.0					7																	82072745		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:82072745G>C	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.31C>G	7.37:g.82072745G>C	ENSP00000348589:p.Leu11Val					CACNA2D1_ENST00000423588.1_Missense_Mutation_p.L11V|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.L11V	p.L11V	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			1	369	-			11					Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.31C>G		.	.	.	.	.	.	.	.	.	.	G	22.1	4.249872	0.80024	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000423588	T;T;T	0.22945	3.25;3.25;1.93	3.86	3.86	0.44501	.	0.000000	0.28821	N	0.014031	T	0.43344	0.1243	L	0.50333	1.59	0.80722	D	1	P	0.49696	0.927	D	0.67725	0.953	T	0.27536	-1.0071	10	0.41790	T	0.15	-3.6329	14.7546	0.69554	0.0:0.0:1.0:0.0	.	11	P54289-2	.	V	11	ENSP00000349320:L11V;ENSP00000348589:L11V;ENSP00000405395:L11V	ENSP00000284088:L11V	L	-	1	2	CACNA2D1	81910681	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.350000	0.66016	1.684000	0.51022	0.313000	0.20887	CTG		0.672	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				5	20	0	0	0	1	0	5	20				
POLR3F	10621	broad.mit.edu	37	20	18464161	18464161	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr20:18464161C>T	ENST00000377603.4	+	9	1290	c.910C>T	c.(910-912)Cca>Tca	p.P304S	POLR3F_ENST00000462997.1_3'UTR	NM_006466.2	NP_006457.2	Q9H1D9	RPC6_HUMAN	polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa	304					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)	2						TGAGATTTCACCATCTAACTG	0.308																																					GBM(69;898 1468 19907 52011)	ENST00000377603.4																			0				breast(2)	2						c.(910-912)Cca>Tca		polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa							45.0	43.0	44.0					20																	18464161		2203	4299	6502	SO:0001583	missense	10621				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr20:18464161C>T	U93869	CCDS13135.1	20p11.23	2013-01-21	2002-08-29		ENSG00000132664	ENSG00000132664		"""RNA polymerase subunits"""	15763	protein-coding gene	gene with protein product	"""RNA polymerase III C39 subunit"""		"""polymerase (RNA) III (DNA directed) polypeptide F (39 kDa)"""			9171375	Standard	NM_006466		Approved	RPC39, RPC6	uc002wqv.3	Q9H1D9	OTTHUMG00000031971	ENST00000377603.4:c.910C>T	20.37:g.18464161C>T	ENSP00000366828:p.Pro304Ser					POLR3F_ENST00000462997.1_3'UTR	p.P304S	NM_006466.2	NP_006457.2	Q9H1D9	RPC6_HUMAN			9	1290	+			304					A8K4C7|O15319	Missense_Mutation	SNP	ENST00000377603.4	37	c.910C>T	CCDS13135.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514398	0.85389	.	.	ENSG00000132664	ENST00000377603	.	.	.	5.57	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.84247	0.5430	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.87615	0.2506	9	0.72032	D	0.01	-16.5839	14.4079	0.67096	0.0:0.9293:0.0:0.0707	.	304	Q9H1D9	RPC6_HUMAN	S	304	.	ENSP00000366828:P304S	P	+	1	0	POLR3F	18412161	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.456000	0.80751	1.376000	0.46267	0.655000	0.94253	CCA		0.308	POLR3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078170.2	NM_006466		6	21	0	0	0	1	0	6	21				
ARID4A	5926	broad.mit.edu	37	14	58838631	58838631	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr14:58838631C>T	ENST00000355431.3	+	24	4071	c.3698C>T	c.(3697-3699)tCt>tTt	p.S1233F	RP11-517O13.3_ENST00000556390.1_RNA|ARID4A_ENST00000348476.3_Missense_Mutation_p.S1164F|ARID4A_ENST00000395168.3_Missense_Mutation_p.S1179F|ARID4A_ENST00000431317.2_Missense_Mutation_p.S1164F	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1233					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TCCATGTCATCTGCTTCATCA	0.423																																						ENST00000355431.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3697-3699)tCt>tTt		AT rich interactive domain 4A (RBP1-like)							137.0	108.0	118.0					14																	58838631		2203	4300	6503	SO:0001583	missense	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58838631C>T	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.3698C>T	14.37:g.58838631C>T	ENSP00000347602:p.Ser1233Phe					RP11-517O13.3_ENST00000556390.1_RNA|ARID4A_ENST00000431317.2_Missense_Mutation_p.S1164F|ARID4A_ENST00000348476.3_Missense_Mutation_p.S1164F|ARID4A_ENST00000395168.3_Missense_Mutation_p.S1179F	p.S1233F	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN			24	4071	+			1233					Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.3698C>T	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310239	0.60414	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317	T;T;T;T	0.23552	1.9;2.02;2.02;2.02	5.18	5.18	0.71444	.	0.121364	0.64402	D	0.000018	T	0.41073	0.1143	L	0.27053	0.805	0.39600	D	0.969724	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.87578	0.998;0.991;0.998	T	0.40403	-0.9565	10	0.87932	D	0	-12.9289	18.871	0.92315	0.0:1.0:0.0:0.0	.	1164;1233;1179	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	F	1233;1164;1179;1164	ENSP00000347602:S1233F;ENSP00000344556:S1164F;ENSP00000378597:S1179F;ENSP00000397368:S1164F	ENSP00000344556:S1164F	S	+	2	0	ARID4A	57908384	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.896000	0.75665	2.690000	0.91761	0.563000	0.77884	TCT		0.423	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		6	20	0	0	0	1	0	6	20				
FLG	2312	broad.mit.edu	37	1	152286682	152286682	+	Nonsense_Mutation	SNP	C	C	T	rs201980178		TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr1:152286682C>T	ENST00000368799.1	-	3	715	c.680G>A	c.(679-681)tGg>tAg	p.W227*	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	227					establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGATTGTATCCATTTTTGAGT	0.348									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(679-681)tGg>tAg		filaggrin							124.0	131.0	129.0					1																	152286682		2203	4300	6503	SO:0001587	stop_gained	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152286682C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.680G>A	1.37:g.152286682C>T	ENSP00000357789:p.Trp227*					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.W227*	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	715	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		227					Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	ENST00000368799.1	37	c.680G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.235528	0.58886	.	.	ENSG00000143631	ENST00000368799	.	.	.	3.83	1.84	0.25277	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-10.7129	4.6832	0.12745	0.2141:0.6677:0.0:0.1182	.	.	.	.	X	227	.	ENSP00000357789:W227X	W	-	2	0	FLG	150553306	0.000000	0.05858	0.010000	0.14722	0.028000	0.11728	-0.841000	0.04359	0.791000	0.33826	0.306000	0.20318	TGG		0.348	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		19	87	0	0	0	1	0	19	87				
FAT1	2195	broad.mit.edu	37	4	187518286	187518286	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr4:187518286G>C	ENST00000441802.2	-	25	12617	c.12408C>G	c.(12406-12408)tgC>tgG	p.C4136W	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4136	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCCCGTGCAGGCAAGGGTTTC	0.582										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(12406-12408)tgC>tgG		FAT atypical cadherin 1							36.0	39.0	38.0					4																	187518286		2085	4209	6294	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187518286G>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.12408C>G	4.37:g.187518286G>C	ENSP00000406229:p.Cys4136Trp	HNSCC(5;0.00058)					p.C4136W	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			25	12617	-			4136			EGF-like 5; calcium-binding (Potential).			Missense_Mutation	SNP	ENST00000441802.2	37	c.12408C>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.804256	0.31869	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000507105	D	0.99445	-5.91	4.97	3.22	0.36961	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99651	0.9871	H	0.98901	4.365	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98260	1.0498	10	0.87932	D	0	.	5.7206	0.17985	0.4609:0.0:0.5391:0.0	.	4136	Q14517	FAT1_HUMAN	W	4136;4138;68	ENSP00000406229:C4136W	ENSP00000260147:C4138W	C	-	3	2	FAT1	187755280	1.000000	0.71417	0.988000	0.46212	0.057000	0.15508	1.385000	0.34408	0.676000	0.31285	0.561000	0.74099	TGC		0.582	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		11	9	0	0	0	1	0	11	9				
CARM1	10498	broad.mit.edu	37	19	11027111	11027111	+	Silent	SNP	C	C	T	rs148487813		TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr19:11027111C>T	ENST00000327064.4	+	7	1066	c.876C>T	c.(874-876)gtC>gtT	p.V292V	CARM1_ENST00000344150.4_Silent_p.V292V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	292	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TTGGTGACGTCCACCTTGCAC	0.602																																						ENST00000327064.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(874-876)gtC>gtT		coactivator-associated arginine methyltransferase 1		C		0,4406		0,0,2203	124.0	87.0	100.0		876	0.9	1.0	19	dbSNP_134	100	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	CARM1	NM_199141.1		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		292/609	11027111	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11027111C>T	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.876C>T	19.37:g.11027111C>T						CARM1_ENST00000344150.4_Silent_p.V292V	p.V292V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN			7	1066	+			292					A6NN38	Silent	SNP	ENST00000327064.4	37	c.876C>T	CCDS12250.1																																																																																				0.602	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719		6	34	0	0	0	1	0	6	34				
HDX	139324	broad.mit.edu	37	X	83616598	83616598	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chrX:83616598C>G	ENST00000297977.5	-	5	1439	c.1328G>C	c.(1327-1329)aGt>aCt	p.S443T	HDX_ENST00000506585.2_Missense_Mutation_p.S385T|HDX_ENST00000373177.2_Missense_Mutation_p.S443T	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	443						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GTCTCGGTCACTGAACTGAGT	0.368																																					Pancreas(53;231 1169 36156 43751 51139)	ENST00000297977.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(1327-1329)aGt>aCt		highly divergent homeobox							60.0	47.0	51.0					X																	83616598		2203	4300	6503	SO:0001583	missense	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83616598C>G	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.1328G>C	X.37:g.83616598C>G	ENSP00000297977:p.Ser443Thr					HDX_ENST00000506585.2_Missense_Mutation_p.S385T|HDX_ENST00000373177.2_Missense_Mutation_p.S443T	p.S443T	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN			5	1439	-			443					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	c.1328G>C	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846045	0.91277	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585	D;D;D	0.95307	-3.67;-3.67;-3.67	5.35	5.35	0.76521	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95166	0.8433	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.94649	0.7837	10	0.33940	T	0.23	-24.3487	18.1973	0.89826	0.0:1.0:0.0:0.0	.	443	Q7Z353	HDX_HUMAN	T	443;385;443	ENSP00000297977:S443T;ENSP00000362272:S385T;ENSP00000423670:S443T	ENSP00000297977:S443T	S	-	2	0	HDX	83503254	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.642000	0.83385	2.235000	0.73313	0.544000	0.68410	AGT		0.368	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		7	18	0	0	0	1	0	7	18				
REM1	28954	broad.mit.edu	37	20	30070268	30070268	+	Missense_Mutation	SNP	G	G	A	rs199660041		TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr20:30070268G>A	ENST00000201979.2	+	4	895	c.602G>A	c.(601-603)cGc>cAc	p.R201H		NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	201					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GACTTGGCCCGCTGCCGAGAA	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		18449	0.0		0.001	False		,,,				2504	0.0					ENST00000201979.2																			0				kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23						c.(601-603)cGc>cAc		RAS (RAD and GEM)-like GTP-binding 1							68.0	63.0	65.0					20																	30070268		2203	4300	6503	SO:0001583	missense	28954				small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	g.chr20:30070268G>A	AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"""GTPase GES"""	610388	"""RAS (RAD and GEM)-like GTP-binding"""	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.602G>A	20.37:g.30070268G>A	ENSP00000201979:p.Arg201His						p.R201H	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		4	895	+	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		201					E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Missense_Mutation	SNP	ENST00000201979.2	37	c.602G>A	CCDS13181.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	34	5.353122	0.95830	.	.	ENSG00000088320	ENST00000201979	T	0.79845	-1.31	5.01	5.01	0.66863	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85592	0.5732	L	0.38649	1.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87002	0.2117	10	0.72032	D	0.01	.	17.4882	0.87694	0.0:0.0:1.0:0.0	.	201	O75628	REM1_HUMAN	H	201	ENSP00000201979:R201H	ENSP00000201979:R201H	R	+	2	0	REM1	29533929	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.652000	0.98499	2.577000	0.86979	0.563000	0.77884	CGC		0.612	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	NM_014012		5	38	0	0	0	1	0	5	38				
LRCH4	4034	broad.mit.edu	37	7	100173357	100173357	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr7:100173357C>T	ENST00000310300.6	-	17	1877	c.1825G>A	c.(1825-1827)Gaa>Aaa	p.E609K	LRCH4_ENST00000497245.1_Missense_Mutation_p.E157K|SAP25_ENST00000538735.1_5'Flank	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	609	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				nervous system development (GO:0007399)	PML body (GO:0016605)				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGACAGGCTTCTAGAAAACTC	0.562																																						ENST00000310300.6																			0				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(1825-1827)Gaa>Aaa		leucine-rich repeats and calponin homology (CH) domain containing 4							175.0	181.0	179.0					7																	100173357		2203	4300	6503	SO:0001583	missense	4034				nervous system development	PML body	protein binding	g.chr7:100173357C>T	AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.1825G>A	7.37:g.100173357C>T	ENSP00000309689:p.Glu609Lys					LRCH4_ENST00000497245.1_Missense_Mutation_p.E157K	p.E609K	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN			17	1877	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		609			CH.		A4D2D5|Q8WV85|Q96ID0	Missense_Mutation	SNP	ENST00000310300.6	37	c.1825G>A	CCDS34706.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565370	0.86439	.	.	ENSG00000077454	ENST00000310300;ENST00000422462;ENST00000497245	D;D	0.95690	-3.78;-3.78	4.4	4.4	0.53042	Calponin homology domain (5);	0.197934	0.43416	D	0.000569	D	0.94282	0.8163	N	0.17312	0.475	0.43267	D	0.995218	D;D	0.61697	0.99;0.979	P;P	0.60173	0.87;0.675	D	0.95208	0.8323	10	0.87932	D	0	-13.6379	14.9144	0.70785	0.0:1.0:0.0:0.0	.	157;609	C9JYK0;O75427	.;LRCH4_HUMAN	K	609;68;157	ENSP00000309689:E609K;ENSP00000419870:E157K	ENSP00000309689:E609K	E	-	1	0	LRCH4	100011293	0.906000	0.30813	1.000000	0.80357	0.988000	0.76386	3.265000	0.51561	2.463000	0.83235	0.555000	0.69702	GAA		0.562	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356110.1	NM_002319		62	138	0	0	0	1	0	62	138				
VIPAS39	63894	broad.mit.edu	37	14	77914856	77914856	+	Missense_Mutation	SNP	C	C	T	rs144078420	byFrequency	TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr14:77914856C>T	ENST00000553888.1	-	7	995	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	VIPAS39_ENST00000343765.2_Missense_Mutation_p.R162Q|VIPAS39_ENST00000327028.4_Missense_Mutation_p.R149Q|VIPAS39_ENST00000448935.2_Missense_Mutation_p.R113Q|VIPAS39_ENST00000556412.1_Missense_Mutation_p.R188Q|VIPAS39_ENST00000557658.1_Missense_Mutation_p.R162Q	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	162					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)											CCGGAGACGTCGCACTGTATC	0.468																																						ENST00000553888.1																			0											c.(484-486)cGa>cAa		VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	124.0	116.0	119.0		485,485,338,485,485	3.4	1.0	14	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	C14orf133	NM_001193314.1,NM_001193315.1,NM_001193316.1,NM_001193317.1,NM_022067.3	43,43,43,43,43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	162/494,162/494,113/445,162/494,162/494	77914856	2,13004	2203	4300	6503	SO:0001583	missense	63894							g.chr14:77914856C>T	AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"""VPS33B interacting protein, apical-basolateral polarity regulator"""	613401	"""chromosome 14 open reading frame 133"""	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.485G>A	14.37:g.77914856C>T	ENSP00000452181:p.Arg162Gln					VIPAS39_ENST00000556412.1_Missense_Mutation_p.R188Q|VIPAS39_ENST00000448935.2_Missense_Mutation_p.R113Q|VIPAS39_ENST00000343765.2_Missense_Mutation_p.R162Q|VIPAS39_ENST00000557658.1_Missense_Mutation_p.R162Q|VIPAS39_ENST00000327028.4_Missense_Mutation_p.R149Q	p.R162Q	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2					7	995	-								B4DPI6|O95434|Q9H7E1|Q9H9I9	Missense_Mutation	SNP	ENST00000553888.1	37	c.485G>A	CCDS9862.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.040674	0.55003	2.27E-4	1.16E-4	ENSG00000151445	ENST00000343765;ENST00000553888;ENST00000327028;ENST00000557658;ENST00000448935;ENST00000556412	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99	5.23	3.39	0.38822	.	0.195305	0.43919	N	0.000501	T	0.30008	0.0751	L	0.33293	1	0.46478	D	0.999064	P;B	0.37573	0.6;0.366	B;B	0.33339	0.162;0.042	T	0.06899	-1.0801	10	0.56958	D	0.05	-0.494	11.3937	0.49830	0.0:0.8519:0.0:0.1481	.	113;162	B4DPI6;Q9H9C1	.;VIPAR_HUMAN	Q	162;162;149;162;113;188	ENSP00000339122:R162Q;ENSP00000452181:R162Q;ENSP00000313098:R149Q;ENSP00000452191:R162Q;ENSP00000404815:R113Q;ENSP00000451857:R188Q	ENSP00000313098:R149Q	R	-	2	0	VIPAR	76984609	0.884000	0.30299	1.000000	0.80357	0.995000	0.86356	1.525000	0.35953	0.580000	0.29522	0.563000	0.77884	CGA		0.468	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414008.1	NM_022067		12	50	0	0	0	1	0	12	50				
PDGFRL	5157	broad.mit.edu	37	8	17486062	17486062	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr8:17486062A>T	ENST00000541323.1	+	5	1017	c.572A>T	c.(571-573)cAg>cTg	p.Q191L	PDGFRL_ENST00000251630.6_Missense_Mutation_p.Q191L|PDGFRL_ENST00000398074.3_Missense_Mutation_p.Q191L	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	191					G-protein coupled receptor signaling pathway (GO:0007186)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)	extracellular region (GO:0005576)	platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		CCGGACAGACAGGCTGTGGTT	0.522																																						ENST00000541323.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9						c.(571-573)cAg>cTg		platelet-derived growth factor receptor-like							123.0	118.0	119.0					8																	17486062		2203	4300	6503	SO:0001583	missense	5157					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity	g.chr8:17486062A>T	D37965	CCDS6003.1	8p22-p21.3	2013-01-29			ENSG00000104213	ENSG00000104213		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8805	protein-coding gene	gene with protein product		604584					Standard	NM_006207		Approved	PRLTS	uc003wxr.3	Q15198	OTTHUMG00000130818	ENST00000541323.1:c.572A>T	8.37:g.17486062A>T	ENSP00000444211:p.Gln191Leu					PDGFRL_ENST00000251630.6_Missense_Mutation_p.Q191L|PDGFRL_ENST00000398074.3_Missense_Mutation_p.Q191L	p.Q191L	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN		Colorectal(111;0.0752)	5	1017	+			191					A8K085|Q6FH04	Missense_Mutation	SNP	ENST00000541323.1	37	c.572A>T	CCDS6003.1	.	.	.	.	.	.	.	.	.	.	A	17.89	3.500049	0.64298	.	.	ENSG00000104213	ENST00000251630;ENST00000541323;ENST00000398074	T;T;T	0.25085	1.82;1.82;1.82	5.44	2.84	0.33178	Immunoglobulin-like fold (1);	0.273345	0.41396	D	0.000885	T	0.17023	0.0409	L	0.34521	1.04	0.36098	D	0.843902	P	0.40000	0.698	B	0.32211	0.142	T	0.24083	-1.0170	10	0.52906	T	0.07	-7.5381	12.3832	0.55320	0.4829:0.5171:0.0:0.0	.	191	Q15198	PGFRL_HUMAN	L	191	ENSP00000251630:Q191L;ENSP00000444211:Q191L;ENSP00000381149:Q191L	ENSP00000251630:Q191L	Q	+	2	0	PDGFRL	17530342	1.000000	0.71417	0.998000	0.56505	0.937000	0.57800	5.081000	0.64444	0.993000	0.38866	0.533000	0.62120	CAG		0.522	PDGFRL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253366.3	NM_006207		14	48	0	0	0	1	0	14	48				
SIAH3	283514	broad.mit.edu	37	13	46357626	46357626	+	Silent	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr13:46357626G>A	ENST00000400405.2	-	2	808	c.702C>T	c.(700-702)tgC>tgT	p.C234C		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	234					multicellular organismal development (GO:0007275)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						TGAGGACGAGGCAGTCCCCGT	0.612																																						ENST00000400405.2																			0				large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						c.(700-702)tgC>tgT		siah E3 ubiquitin protein ligase family member 3							68.0	76.0	73.0					13																	46357626		2088	4190	6278	SO:0001819	synonymous_variant	283514				multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding	g.chr13:46357626G>A		CCDS41883.1	13q14.12	2012-02-23	2012-02-23		ENSG00000215475	ENSG00000215475			30553	protein-coding gene	gene with protein product		615609	"""seven in absentia homolog 3 (Drosophila)"""			12477932	Standard	NM_198849		Approved	FLJ39203	uc001vap.3	Q8IW03	OTTHUMG00000016862	ENST00000400405.2:c.702C>T	13.37:g.46357626G>A							p.C234C	NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN			2	808	-			234					B7ZBP0|Q8N8M6	Silent	SNP	ENST00000400405.2	37	c.702C>T	CCDS41883.1																																																																																				0.612	SIAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044788.2	NM_198849		17	56	0	0	0	1	0	17	56				
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427|rs369312237	byFrequency	TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000540980.1_Silent_p.Q56Q|TBP_ENST00000230354.6_Silent_p.Q76Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572																																						ENST00000392092.2																			4	Substitution - coding silent(4)	p.Q76Q(4)	lung(3)|prostate(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(226-228)caG>caA		TATA box binding protein							14.0	19.0	17.0					6																	170871052		1952	3842	5794	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871052G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.228G>A	6.37:g.170871052G>A						TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	p.Q76Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	507	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	76			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.228G>A	CCDS5315.1																																																																																				0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		4	48	0	0	0	1	0	4	48				
LGR4	55366	broad.mit.edu	37	11	27406950	27406950	+	Missense_Mutation	SNP	C	C	G	rs143913282	byFrequency	TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr11:27406950C>G	ENST00000379214.4	-	5	910	c.467G>C	c.(466-468)cGg>cCg	p.R156P	LGR4_ENST00000389858.4_Missense_Mutation_p.R132P|LGR4_ENST00000480977.2_Missense_Mutation_p.R108P	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	156					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CCACAGATGCCGTAACTGAAC	0.507																																						ENST00000379214.4																			0				NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						c.(466-468)cGg>cCg		leucine-rich repeat containing G protein-coupled receptor 4							99.0	90.0	93.0					11																	27406950		2202	4299	6501	SO:0001583	missense	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27406950C>G	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.467G>C	11.37:g.27406950C>G	ENSP00000368516:p.Arg156Pro					LGR4_ENST00000480977.2_Missense_Mutation_p.R108P|LGR4_ENST00000389858.4_Missense_Mutation_p.R132P	p.R156P	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN			5	910	-			156					A6NCH3|G5E9B3|Q8N537|Q9NYD1	Missense_Mutation	SNP	ENST00000379214.4	37	c.467G>C	CCDS31449.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.576658	0.86645	.	.	ENSG00000205213	ENST00000379214;ENST00000389858;ENST00000480977	T;T;T	0.61158	0.13;2.76;0.13	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.82600	0.5072	M	0.91090	3.175	0.58432	D	0.999991	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.999	D	0.85328	0.1088	10	0.87932	D	0	.	20.3552	0.98837	0.0:1.0:0.0:0.0	.	132;156	G5E9B3;Q9BXB1	.;LGR4_HUMAN	P	156;132;108	ENSP00000368516:R156P;ENSP00000374508:R132P;ENSP00000431650:R108P	ENSP00000368516:R156P	R	-	2	0	LGR4	27363526	1.000000	0.71417	0.873000	0.34254	0.976000	0.68499	7.818000	0.86416	2.812000	0.96745	0.557000	0.71058	CGG		0.507	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490		12	46	0	0	0	1	0	12	46				
EVI2B	2124	broad.mit.edu	37	17	29632280	29632280	+	Silent	SNP	G	G	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr17:29632280G>T	ENST00000330927.4	-	2	502	c.348C>A	c.(346-348)tcC>tcA	p.S116S	EVI2B_ENST00000577894.1_Silent_p.S116S|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|CTD-2370N5.3_ENST00000578584.1_3'UTR|EVI2B_ENST00000544462.1_Silent_p.S131S	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	116						integral component of plasma membrane (GO:0005887)		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		CTTGCTGGGAGGAGGTGTTGG	0.463																																						ENST00000330927.4																			11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(346-348)tcC>tcA		ecotropic viral integration site 2B							529.0	404.0	446.0					17																	29632280		2203	4300	6503	SO:0001819	synonymous_variant	2124					cytoplasm|integral to plasma membrane		g.chr17:29632280G>T		CCDS11266.1	17q11.2	2011-08-11			ENSG00000185862	ENSG00000185862		"""CD molecules"""	3500	protein-coding gene	gene with protein product		158381				1903357	Standard	NM_006495		Approved	D17S376, EVDB, CD361	uc002hgk.2	P34910	OTTHUMG00000132869	ENST00000330927.4:c.348C>A	17.37:g.29632280G>T						EVI2B_ENST00000544462.1_Silent_p.S131S|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|CTD-2370N5.3_ENST00000578584.1_3'UTR|EVI2B_ENST00000577894.1_Silent_p.S116S	p.S116S	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)	2	502	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	116					B7Z4A7	Silent	SNP	ENST00000330927.4	37	c.348C>A	CCDS11266.1																																																																																				0.463	EVI2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256349.2	NM_006495		50	182	1	0	1.47857e-17	1	1.61991e-17	50	182				
PDZRN3	23024	broad.mit.edu	37	3	73432536	73432536	+	Silent	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr3:73432536G>A	ENST00000263666.4	-	10	3295	c.3181C>T	c.(3181-3183)Cta>Tta	p.L1061L	PDZRN3_ENST00000535920.1_Silent_p.L783L|PDZRN3_ENST00000466780.1_Silent_p.L718L|PDZRN3_ENST00000479530.1_Silent_p.L778L|PDZRN3_ENST00000462146.2_Silent_p.L718L|PDZRN3_ENST00000466348.1_5'Flank	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	1061					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GTCACCGATAGGAAGGAATTG	0.433																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(3181-3183)Cta>Tta		PDZ domain containing ring finger 3							140.0	152.0	148.0					3																	73432536		2203	4300	6503	SO:0001819	synonymous_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73432536G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.3181C>T	3.37:g.73432536G>A						PDZRN3_ENST00000479530.1_Silent_p.L778L|PDZRN3_ENST00000535920.1_Silent_p.L783L|PDZRN3_ENST00000462146.2_Silent_p.L718L|PDZRN3_ENST00000466780.1_Silent_p.L718L	p.L1061L	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	3295	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	1061					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	c.3181C>T	CCDS33789.1																																																																																				0.433	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		23	83	0	0	0	1	0	23	83				
CNTNAP2	26047	broad.mit.edu	37	7	147600793	147600793	+	Silent	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr7:147600793C>T	ENST00000361727.3	+	14	2751	c.2235C>T	c.(2233-2235)tgC>tgT	p.C745C		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	745	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.C745C(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACTGTAACTGCGACGCGGACT	0.542										HNSCC(39;0.1)																												ENST00000361727.3																			2	Substitution - coding silent(2)	p.C745C(2)	large_intestine(1)|endometrium(1)	NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(2233-2235)tgC>tgT		contactin associated protein-like 2							63.0	52.0	56.0					7																	147600793		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147600793C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2235C>T	7.37:g.147600793C>T		HNSCC(39;0.1)					p.C745C	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		14	2751	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	745			Fibrinogen C-terminal.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.2235C>T	CCDS5889.1																																																																																				0.542	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			6	19	0	0	0	1	0	6	19				
HAL	3034	broad.mit.edu	37	12	96368042	96368042	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr12:96368042A>T	ENST00000261208.3	-	21	2310	c.1942T>A	c.(1942-1944)Tcc>Acc	p.S648T	HAL_ENST00000538703.1_3'UTR|HAL_ENST00000541929.1_Missense_Mutation_p.S440T	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	648					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	ATTTTGGTGGATTTCTTGTGC	0.433																																					NSCLC(169;943 2815 23563 30031)	ENST00000261208.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34						c.(1942-1944)Tcc>Acc		histidine ammonia-lyase	L-Histidine(DB00117)						157.0	155.0	156.0					12																	96368042		2203	4300	6503	SO:0001583	missense	3034				biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	g.chr12:96368042A>T		CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.1942T>A	12.37:g.96368042A>T	ENSP00000261208:p.Ser648Thr					HAL_ENST00000541929.1_Missense_Mutation_p.S440T|HAL_ENST00000538703.1_3'UTR	p.S648T	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN			21	2310	-			648					B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	ENST00000261208.3	37	c.1942T>A	CCDS9058.1	.	.	.	.	.	.	.	.	.	.	A	9.219	1.032978	0.19590	.	.	ENSG00000084110	ENST00000261208;ENST00000541929	T;T	0.76968	-1.06;-0.06	4.96	-2.49	0.06403	.	0.928117	0.09176	N	0.838162	T	0.49508	0.1561	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.39663	-0.9603	10	0.07030	T	0.85	-0.1619	6.0127	0.19584	0.3569:0.4384:0.2047:0.0	.	648	P42357	HUTH_HUMAN	T	648;440	ENSP00000261208:S648T;ENSP00000446364:S440T	ENSP00000261208:S648T	S	-	1	0	HAL	94892173	0.000000	0.05858	0.000000	0.03702	0.138000	0.21146	0.217000	0.17603	-0.255000	0.09486	-0.313000	0.08912	TCC		0.433	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1			27	90	0	0	0	1	0	27	90				
CTCF	10664	broad.mit.edu	37	16	67650732	67650732	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr16:67650732C>G	ENST00000264010.4	+	5	1481	c.1037C>G	c.(1036-1038)aCc>aGc	p.T346S	AC009095.4_ENST00000388909.4_RNA|CTCF_ENST00000401394.1_Missense_Mutation_p.T18S	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	346					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TACAAACACACCCACGAGAAG	0.478																																					Colon(175;1200 1966 6945 23069 27405)	ENST00000264010.4																			0				breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79						c.(1036-1038)aCc>aGc		CCCTC-binding factor (zinc finger protein)							335.0	273.0	294.0					16																	67650732		2198	4300	6498	SO:0001583	missense	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67650732C>G	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1037C>G	16.37:g.67650732C>G	ENSP00000264010:p.Thr346Ser					CTCF_ENST00000401394.1_Missense_Mutation_p.T18S	p.T346S	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	5	1481	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	346					B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	c.1037C>G	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020762	0.75275	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	T;T	0.24151	1.87;1.87	4.89	4.89	0.63831	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.178646	0.38605	N	0.001640	T	0.44973	0.1319	L	0.45051	1.395	0.80722	D	1	D	0.69078	0.997	D	0.74348	0.983	T	0.41215	-0.9521	10	0.87932	D	0	.	18.3148	0.90217	0.0:1.0:0.0:0.0	.	346	P49711	CTCF_HUMAN	S	346;18	ENSP00000264010:T346S;ENSP00000384707:T18S	ENSP00000264010:T346S	T	+	2	0	CTCF	66208233	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.448000	0.80631	2.553000	0.86117	0.558000	0.71614	ACC		0.478	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		43	153	0	0	0	1	0	43	153				
ABHD1	84696	broad.mit.edu	37	2	27352634	27352634	+	Silent	SNP	G	G	C	rs146000122	byFrequency	TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr2:27352634G>C	ENST00000316470.4	+	6	744	c.630G>C	c.(628-630)ctG>ctC	p.L210L		NM_032604.3	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	210						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACTGGTGCTGAATCACCTGG	0.547																																						ENST00000316470.4																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(628-630)ctG>ctC		abhydrolase domain containing 1							75.0	79.0	78.0					2																	27352634		2203	4300	6503	SO:0001819	synonymous_variant	84696					integral to membrane	carboxylesterase activity	g.chr2:27352634G>C	AK093447	CCDS1736.1	2p23.3	2011-01-21			ENSG00000143994	ENSG00000143994		"""Abhydrolase domain containing"""	17553	protein-coding gene	gene with protein product		612195				11922611	Standard	NM_032604		Approved	LABH1, FLJ36128	uc002rit.3	Q96SE0	OTTHUMG00000097072	ENST00000316470.4:c.630G>C	2.37:g.27352634G>C							p.L210L	NM_032604.3	NP_115993.3	Q96SE0	ABHD1_HUMAN			6	744	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		210					B3KSF6|E9PDR9|Q05BY3|Q53SZ1|Q8IXQ7	Silent	SNP	ENST00000316470.4	37	c.630G>C	CCDS1736.1																																																																																				0.547	ABHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214188.1	NM_032604		13	51	0	0	0	1	0	13	51				
MYH8	4626	broad.mit.edu	37	17	10318816	10318816	+	Silent	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr17:10318816C>T	ENST00000403437.2	-	7	715	c.621G>A	c.(619-621)aaG>aaA	p.K207K	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	207	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CATCCTTCTTCTTCTCTCCAG	0.468									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(619-621)aaG>aaA		myosin, heavy chain 8, skeletal muscle, perinatal							135.0	128.0	131.0					17																	10318816		2203	4300	6503	SO:0001819	synonymous_variant	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10318816C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.621G>A	17.37:g.10318816C>T						CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.K207K	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			7	715	-			207			Myosin head-like.		Q14910	Silent	SNP	ENST00000403437.2	37	c.621G>A	CCDS11153.1																																																																																				0.468	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		23	60	0	0	0	1	0	23	60				
TNNI2	7136	broad.mit.edu	37	11	1861837	1861837	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr11:1861837C>T	ENST00000381906.1	+	5	206	c.137C>T	c.(136-138)gCg>gTg	p.A46V	TNNI2_ENST00000252898.7_Missense_Mutation_p.A46V|TNNI2_ENST00000381905.3_Missense_Mutation_p.A46V|TNNI2_ENST00000381911.1_Missense_Mutation_p.A46V	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	46	Involved in binding TNC.				muscle filament sliding (GO:0030049)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|nucleus (GO:0005634)|troponin complex (GO:0005861)	troponin T binding (GO:0031014)			lung(8)|prostate(1)|urinary_tract(1)	10		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)		AACTACCTGGCGGAGCACTGC	0.682																																						ENST00000381906.1																			0				lung(8)|prostate(1)|urinary_tract(1)	10						c.(136-138)gCg>gTg		troponin I type 2 (skeletal, fast)							25.0	34.0	31.0					11																	1861837		2202	4295	6497	SO:0001583	missense	7136				muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding	g.chr11:1861837C>T	L21715	CCDS31333.1, CCDS53594.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130598	ENSG00000130598			11946	protein-coding gene	gene with protein product	"""troponin I, fast-twitch skeletal muscle isoform"", ""troponin I fast twitch 2"""	191043	"""troponin I, skeletal, fast"", ""arthrogryposis multiplex congenita, distal, type 2B"""	AMCD2B		9016781, 12592607	Standard	NM_001145829		Approved	FSSV, DA2B	uc010qxe.1	P48788	OTTHUMG00000012253	ENST00000381906.1:c.137C>T	11.37:g.1861837C>T	ENSP00000371331:p.Ala46Val					TNNI2_ENST00000381905.3_Missense_Mutation_p.A46V|TNNI2_ENST00000252898.7_Missense_Mutation_p.A46V|TNNI2_ENST00000381911.1_Missense_Mutation_p.A46V	p.A46V	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	5	206	+		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)	46			Involved in binding TNC.		A6NIV8|A6NJU5	Missense_Mutation	SNP	ENST00000381906.1	37	c.137C>T	CCDS31333.1	.	.	.	.	.	.	.	.	.	.	c	7.633	0.679200	0.14907	.	.	ENSG00000130598	ENST00000381911;ENST00000381906;ENST00000252898;ENST00000381905	D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09	2.78	1.82	0.25136	.	0.899723	0.09327	N	0.817398	D	0.90017	0.6883	M	0.84948	2.725	0.09310	N	1	B;P	0.40032	0.412;0.699	B;B	0.24541	0.013;0.054	T	0.81176	-0.1052	10	0.56958	D	0.05	4.5354	9.8845	0.41253	0.3864:0.6136:0.0:0.0	.	46;46	A6NIV8;P48788	.;TNNI2_HUMAN	V	46	ENSP00000371336:A46V;ENSP00000371331:A46V;ENSP00000252898:A46V;ENSP00000371330:A46V	ENSP00000252898:A46V	A	+	2	0	TNNI2	1818413	0.015000	0.18098	0.003000	0.11579	0.003000	0.03518	2.117000	0.41939	0.691000	0.31592	0.313000	0.20887	GCG		0.682	TNNI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034046.2	NM_003282		6	25	0	0	0	1	0	6	25				
RASGEF1C	255426	broad.mit.edu	37	5	179563430	179563430	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr5:179563430G>A	ENST00000393371.2	-	3	682	c.386C>T	c.(385-387)tCg>tTg	p.S129L	RASGEF1C_ENST00000522500.1_5'UTR|RASGEF1C_ENST00000519883.1_5'Flank|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.S129L			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	129	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCGATAGTCGACTCTTCCTG	0.677																																						ENST00000393371.2																			0				breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12						c.(385-387)tCg>tTg		RasGEF domain family, member 1C							54.0	44.0	47.0					5																	179563430		2157	4262	6419	SO:0001583	missense	255426				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity	g.chr5:179563430G>A	AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.386C>T	5.37:g.179563430G>A	ENSP00000377037:p.Ser129Leu					RASGEF1C_ENST00000361132.4_Missense_Mutation_p.S129L|RASGEF1C_ENST00000522500.1_5'UTR	p.S129L			Q8N431	RGF1C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	682	-	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	129			N-terminal Ras-GEF.		D3DWQ7|Q7Z4T0|Q8NA49	Missense_Mutation	SNP	ENST00000393371.2	37	c.386C>T	CCDS4452.1	.	.	.	.	.	.	.	.	.	.	G	8.874	0.949916	0.18431	.	.	ENSG00000146090	ENST00000361132;ENST00000393371	T;T	0.47177	0.85;0.85	4.66	2.44	0.29823	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	0.522095	0.18369	N	0.143339	T	0.19685	0.0473	N	0.02539	-0.55	0.80722	D	1	B	0.10296	0.003	B	0.15484	0.013	T	0.04005	-1.0985	10	0.26408	T	0.33	.	7.4985	0.27503	0.0:0.4115:0.3701:0.2184	.	129	Q8N431	RGF1C_HUMAN	L	129	ENSP00000354963:S129L;ENSP00000377037:S129L	ENSP00000354963:S129L	S	-	2	0	RASGEF1C	179496036	0.045000	0.20229	0.531000	0.27976	0.212000	0.24457	1.017000	0.29989	1.047000	0.40274	0.511000	0.50034	TCG		0.677	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253506.2	NM_175062		3	2	0	0	0	1	0	3	2				
EHD3	30845	broad.mit.edu	37	2	31484543	31484543	+	Silent	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr2:31484543C>T	ENST00000322054.5	+	5	1329	c.1044C>T	c.(1042-1044)atC>atT	p.I348I	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	348					blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					AGCACCAGATCTCACCTGGGG	0.587																																						ENST00000322054.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33						c.(1042-1044)atC>atT		EH-domain containing 3							107.0	104.0	105.0					2																	31484543		2203	4300	6503	SO:0001819	synonymous_variant	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31484543C>T	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.1044C>T	2.37:g.31484543C>T						EHD3_ENST00000541626.1_Intron	p.I348I	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN			5	1329	+	Acute lymphoblastic leukemia(172;0.155)		348					B4DFR5|D6W574|Q8N514|Q9NZB3	Silent	SNP	ENST00000322054.5	37	c.1044C>T	CCDS1774.1																																																																																				0.587	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		17	91	0	0	0	1	0	17	91				
NOTCH1	4851	broad.mit.edu	37	9	139404216	139404216	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr9:139404216A>C	ENST00000277541.6	-	18	3013	c.2938T>G	c.(2938-2940)Tgt>Ggt	p.C980G		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	980	EGF-like 25; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TTGTTCTCACAGTGGATCCCG	0.667			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(2938-2940)Tgt>Ggt		notch 1							61.0	69.0	66.0					9																	139404216		2121	4238	6359	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139404216A>C	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.2938T>G	9.37:g.139404216A>C	ENSP00000277541:p.Cys980Gly	HNSCC(8;0.001)					p.C980G	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	18	3013	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	980			EGF-like 25; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.2938T>G	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.647443	0.87958	.	.	ENSG00000148400	ENST00000277541	D	0.99914	-7.98	4.5	4.5	0.54988	EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99957	0.9982	H	0.99956	5.05	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96185	0.9133	10	0.72032	D	0.01	.	12.6381	0.56694	1.0:0.0:0.0:0.0	.	980	P46531	NOTC1_HUMAN	G	980	ENSP00000277541:C980G	ENSP00000277541:C980G	C	-	1	0	NOTCH1	138524037	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	6.974000	0.76122	1.657000	0.50732	0.533000	0.62120	TGT		0.667	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		9	71	0	0	0	1	0	9	71				
HLX	3142	broad.mit.edu	37	1	221054616	221054616	+	Missense_Mutation	SNP	G	G	A	rs370989205		TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr1:221054616G>A	ENST00000366903.6	+	2	2174	c.673G>A	c.(673-675)Gca>Aca	p.A225T	HLX_ENST00000549319.1_5'UTR|HLA-AS1_ENST00000552026.1_RNA	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	225					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.A225T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CCAGTTCTTCGCATCTCTAGA	0.567																																						ENST00000366903.6																			1	Substitution - Missense(1)	p.A225T(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(673-675)Gca>Aca		H2.0-like homeobox							101.0	104.0	103.0					1																	221054616		2203	4300	6503	SO:0001583	missense	3142				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:221054616G>A	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.673G>A	1.37:g.221054616G>A	ENSP00000355870:p.Ala225Thr					HLX_ENST00000549319.1_5'UTR	p.A225T	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN		GBM - Glioblastoma multiforme(131;0.00914)	2	2174	+			225					B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	c.673G>A	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474238	0.43942	.	.	ENSG00000136630	ENST00000366903	D	0.90620	-2.7	5.82	3.95	0.45737	.	0.096238	0.43260	N	0.000598	T	0.77377	0.4121	N	0.17082	0.46	0.80722	D	1	P	0.41475	0.751	B	0.22601	0.04	T	0.74275	-0.3718	10	0.25106	T	0.35	-6.8998	12.1408	0.53996	0.1401:0.0:0.8599:0.0	.	225	Q14774	HLX_HUMAN	T	225	ENSP00000355870:A225T	ENSP00000355870:A225T	A	+	1	0	HLX	219121239	1.000000	0.71417	0.972000	0.41901	0.230000	0.25150	4.983000	0.63832	0.807000	0.34208	-0.258000	0.10820	GCA		0.567	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958		23	73	0	0	0	1	0	23	73				
IL3RA	3563	broad.mit.edu	37	X	1471372	1471372	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chrX:1471372G>T	ENST00000331035.4	+	6	938	c.589G>T	c.(589-591)Gat>Tat	p.D197Y	IL3RA_ENST00000381469.2_Missense_Mutation_p.D119Y	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	197					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CCCCTGCACAGATAAGTTTGT	0.572																																						ENST00000331035.4																			0				lung(1)|skin(2)	3						c.(589-591)Gat>Tat		interleukin 3 receptor, alpha (low affinity)	Sargramostim(DB00020)						201.0	197.0	198.0					X																	1471372		2203	4296	6499	SO:0001583	missense	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1471372G>T	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.589G>T	X.37:g.1471372G>T	ENSP00000327890:p.Asp197Tyr					IL3RA_ENST00000381469.2_Missense_Mutation_p.D119Y	p.D197Y	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN			6	938	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	197					A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Missense_Mutation	SNP	ENST00000331035.4	37	c.589G>T	CCDS14113.1	.	.	.	.	.	.	.	.	.	.	.	10.62	1.400073	0.25291	.	.	ENSG00000185291	ENST00000331035;ENST00000432757;ENST00000381469	D;D;D	0.96554	-1.85;-1.85;-4.05	1.75	0.692	0.18050	Interleukin-6 receptor alpha chain, binding (1);	0.554798	0.16098	U	0.229721	D	0.95053	0.8398	L	0.49778	1.585	0.31067	N	0.713435	D;D	0.89917	1.0;0.975	D;P	0.71414	0.973;0.826	D	0.89291	0.3619	10	0.02654	T	1	-4.7541	4.7492	0.13052	0.0:0.0:0.6345:0.3655	.	118;197	P26951-2;P26951	.;IL3RA_HUMAN	Y	197;119;119	ENSP00000327890:D197Y;ENSP00000414867:D119Y;ENSP00000370878:D119Y	ENSP00000327890:D197Y	D	+	1	0	IL3RA	1431372	0.011000	0.17503	0.005000	0.12908	0.153000	0.21895	1.678000	0.37586	-0.023000	0.13963	0.182000	0.17080	GAT		0.572	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3			18	45	1	0	9.16793e-09	1	9.6881e-09	18	45				
THOP1	7064	broad.mit.edu	37	19	2811699	2811699	+	Silent	SNP	G	G	A	rs373236316		TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr19:2811699G>A	ENST00000307741.6	+	12	2078	c.1875G>A	c.(1873-1875)acG>acA	p.T625T	THOP1_ENST00000395212.4_Silent_p.T136T|THOP1_ENST00000586677.1_Silent_p.T504T	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	625					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTTCCACACGCGCTTCAAGC	0.622																																						ENST00000307741.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14						c.(1873-1875)acG>acA		thimet oligopeptidase 1		G		1,4403		0,1,2201	134.0	97.0	110.0		1875	-6.9	1.0	19		110	0,8600		0,0,4300	no	coding-synonymous	THOP1	NM_003249.3		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		625/690	2811699	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	7064				proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding	g.chr19:2811699G>A		CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.1875G>A	19.37:g.2811699G>A						THOP1_ENST00000586677.1_Silent_p.T504T|THOP1_ENST00000395212.4_Silent_p.T136T	p.T625T	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	2078	+			625					B3KSE2|Q9UCB3	Silent	SNP	ENST00000307741.6	37	c.1875G>A	CCDS12095.1																																																																																				0.622	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451587.2			12	49	0	0	0	1	0	12	49				
WBP1	23559	broad.mit.edu	37	2	74687542	74687543	+	Frame_Shift_Ins	INS	-	-	C	rs547055147	byFrequency	TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr2:74687542_74687543insC	ENST00000233615.2	+	4	818_819	c.544_545insC	c.(544-546)gccfs	p.A182fs	WBP1_ENST00000393972.3_Frame_Shift_Ins_p.A216fs|WBP1_ENST00000409737.1_Frame_Shift_Ins_p.A179fs|WBP1_ENST00000494741.1_3'UTR|MOGS_ENST00000462443.1_5'Flank	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1	182							WW domain binding (GO:0050699)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CCACCAGAGTGCCCCCCCTCAT	0.604													CCCCCCc|CCCCCCC|CCCCCCCC|insertion	4	0.000798722	0.0015	0.0	5008	,	,		17122	0.001		0.0	False		,,,				2504	0.001					ENST00000393972.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						c.(646-648)cccfs		WW domain binding protein 1																																				SO:0001589	frameshift_variant	23559						WW domain binding	g.chr2:74687542_74687543insC	U79457	CCDS1943.1	2p12	2012-04-20			ENSG00000239779	ENSG00000239779			12737	protein-coding gene	gene with protein product		606961				7644498	Standard	NM_012477		Approved	WBP-1	uc002slj.2	Q96G27	OTTHUMG00000129958	ENST00000233615.2:c.551dupC	2.37:g.74687549_74687549dupC	ENSP00000233615:p.Ala182fs					WBP1_ENST00000233615.2_Frame_Shift_Ins_p.P182fs|WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000409737.1_Frame_Shift_Ins_p.P179fs	p.P216fs			Q96G27	WBP1_HUMAN			5	849_850	+			182					B2RE02|O95637	Frame_Shift_Ins	INS	ENST00000233615.2	37	c.646_647insC	CCDS1943.1																																																																																				0.604	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252221.2	NM_012477		16	121						16	121	---	---	---	---
CASP8	841	broad.mit.edu	37	2	202149977	202149978	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr2:202149977_202149978delAC	ENST00000432109.2	+	9	1430_1431	c.1241_1242delAC	c.(1240-1242)aacfs	p.N414fs	CASP8_ENST00000264274.9_Frame_Shift_Del_p.N330fs|CASP8_ENST00000264275.5_Frame_Shift_Del_p.N431fs|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000323492.7_Frame_Shift_Del_p.N399fs|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000358485.4_Frame_Shift_Del_p.N473fs	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	414					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TCCTACCGAAACCCTGCAGAGG	0.49										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(1417-1419)afs		caspase 8, apoptosis-related cysteine peptidase																																				SO:0001589	frameshift_variant	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202149977_202149978delAC	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1241_1242delAC	2.37:g.202149977_202149978delAC	ENSP00000412523:p.Asn414fs	HNSCC(4;0.00038)				CASP8_ENST00000264274.9_Frame_Shift_Del_p.N330fs|CASP8_ENST00000264275.5_Frame_Shift_Del_p.N431fs|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000323492.7_Frame_Shift_Del_p.N399fs|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000432109.2_Frame_Shift_Del_p.N414fs	p.N473fs	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			8	1614_1615	+			414					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Frame_Shift_Del	DEL	ENST00000432109.2	37	c.1418_1419delAC	CCDS2342.1																																																																																				0.490	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		11	46						11	46	---	---	---	---
FGFR4	2264	broad.mit.edu	37	5	176516626	176516627	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr5:176516626_176516627insG	ENST00000292408.4	+	2	268_269	c.23_24insG	c.(22-27)ttggggfs	p.LG8fs	FGFR4_ENST00000502906.1_Frame_Shift_Ins_p.LG8fs|FGFR4_ENST00000393637.1_Frame_Shift_Ins_p.LG8fs|FGFR4_ENST00000393648.2_Frame_Shift_Ins_p.LG8fs|FGFR4_ENST00000507708.1_3'UTR|FGFR4_ENST00000292410.3_Frame_Shift_Ins_p.LG8fs	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	8					alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	CTGGCCCTGTTGGGGGTCCTGC	0.604										TSP Lung(9;0.080)																												ENST00000292408.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34						c.(22-24)tggfs		fibroblast growth factor receptor 4	Palifermin(DB00039)																																			SO:0001589	frameshift_variant	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176516626_176516627insG	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.28dupG	5.37:g.176516631_176516631dupG	ENSP00000292408:p.Leu8fs	TSP Lung(9;0.080)				FGFR4_ENST00000507708.1_3'UTR|FGFR4_ENST00000393648.2_Frame_Shift_Ins_p.W8fs|FGFR4_ENST00000292410.3_Frame_Shift_Ins_p.W8fs|FGFR4_ENST00000393637.1_Frame_Shift_Ins_p.W8fs|FGFR4_ENST00000502906.1_Frame_Shift_Ins_p.W8fs	p.W8fs	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	268_269	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	8					G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Frame_Shift_Ins	INS	ENST00000292408.4	37	c.23_24insG	CCDS4410.1																																																																																				0.604	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			9	18						9	18	---	---	---	---
RIMS1	22999	broad.mit.edu	37	6	73043310	73043311	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr6:73043310_73043311insC	ENST00000521978.1	+	29	4138_4139	c.4138_4139insC	c.(4138-4140)accfs	p.T1380fs	RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000401910.3_Frame_Shift_Ins_p.T700fs|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000264839.7_Frame_Shift_Ins_p.T1229fs|RIMS1_ENST00000538414.1_Frame_Shift_Ins_p.T186fs|RIMS1_ENST00000491071.2_Frame_Shift_Ins_p.T1203fs|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000348717.5_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1380	Ser-rich.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TAGTTCATTTACCCCCAAAATG	0.381																																						ENST00000264839.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(3685-3687)cccfs		regulating synaptic membrane exocytosis 1																																				SO:0001589	frameshift_variant	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:73043310_73043311insC	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.4143dupC	6.37:g.73043315_73043315dupC	ENSP00000428417:p.Thr1380fs					RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000538414.1_Frame_Shift_Ins_p.P186fs|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000521978.1_Frame_Shift_Ins_p.P1380fs|RIMS1_ENST00000491071.2_Frame_Shift_Ins_p.P1203fs|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000401910.3_Frame_Shift_Ins_p.P700fs|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000425662.2_Intron	p.P1229fs			Q86UR5	RIMS1_HUMAN			25	3685_3686	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	1380					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Frame_Shift_Ins	INS	ENST00000521978.1	37	c.3685_3686insC	CCDS47449.1																																																																																				0.381	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			4	8						4	8	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151848643	151848644	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr7:151848643_151848644insA	ENST00000262189.6	-	50	12767_12768	c.12549_12550insT	c.(12547-12552)tctagtfs	p.S4184fs	KMT2C_ENST00000355193.2_Frame_Shift_Ins_p.S4241fs|KMT2C_ENST00000485241.1_5'Flank	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4184					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ATACCATGACTAGAATCCTTAT	0.391																																						ENST00000355193.2																			0											c.(12718-12723)tcgtcafs		lysine (K)-specific methyltransferase 2C																																				SO:0001589	frameshift_variant	58508							g.chr7:151848643_151848644insA	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.12550dupT	7.37:g.151848644_151848644dupA	ENSP00000262189:p.Ser4184fs					KMT2C_ENST00000262189.6_Frame_Shift_Ins_p.S4184fs	p.S4241fs							51	12938_12939	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Ins	INS	ENST00000262189.6	37	c.12720_12721insT	CCDS5931.1																																																																																				0.391	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			19	36						19	36	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49434709	49434709	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr12:49434709delG	ENST00000301067.7	-	31	6843	c.6844delC	c.(6844-6846)cggfs	p.R2282fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2282	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AGGGCCTTCCGGGACTCCCCA	0.627																																						ENST00000301067.7																			0											c.(6844-6846)ggfs		lysine (K)-specific methyltransferase 2D							31.0	34.0	33.0					12																	49434709		1860	4094	5954	SO:0001589	frameshift_variant	8085							g.chr12:49434709delG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.6844delC	12.37:g.49434709delG	ENSP00000301067:p.Arg2282fs						p.R2282fs	NM_003482.3	NP_003473.3					31	6843	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.6844delC	CCDS44873.1																																																																																				0.627	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			7	34						7	34	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49443640	49443641	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr12:49443640_49443641insC	ENST00000301067.7	-	11	3729_3730	c.3730_3731insG	c.(3730-3732)gtcfs	p.V1244fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1244					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ATCCGTAGAGACCCCCAACTCC	0.604																																						ENST00000301067.7																			0											c.(3730-3732)ctcfs		lysine (K)-specific methyltransferase 2D																																				SO:0001589	frameshift_variant	8085							g.chr12:49443640_49443641insC	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.3731dupG	12.37:g.49443645_49443645dupC	ENSP00000301067:p.Val1244fs						p.L1244fs	NM_003482.3	NP_003473.3					11	3729_3730	-								O14687	Frame_Shift_Ins	INS	ENST00000301067.7	37	c.3730_3731insG	CCDS44873.1																																																																																				0.604	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			24	80						24	80	---	---	---	---
DHRS1	115817	broad.mit.edu	37	14	24761870	24761871	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr14:24761870_24761871delCA	ENST00000288111.7	-	5	770_771	c.494_495delTG	c.(493-495)gtgfs	p.V165fs	DHRS1_ENST00000559088.1_5'Flank|DHRS1_ENST00000396813.1_Frame_Shift_Del_p.V165fs	NM_001136050.2	NP_001129522.1	Q96LJ7	DHRS1_HUMAN	dehydrogenase/reductase (SDR family) member 1	165						endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)	oxidoreductase activity (GO:0016491)	p.V165V(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		CAGCTTTGCCCACACCATAGGG	0.55																																						ENST00000288111.7																			1	Substitution - coding silent(1)	p.V165V(1)	lung(1)	cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(493-495)gfs		dehydrogenase/reductase (SDR family) member 1																																				SO:0001589	frameshift_variant	115817					endoplasmic reticulum	binding|oxidoreductase activity	g.chr14:24761870_24761871delCA	AK058159	CCDS9623.1	14q11.2	2011-09-14			ENSG00000157379	ENSG00000157379	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	16445	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 19C, member 1"""	610410				12153138, 19027726	Standard	NM_138452		Approved	FLJ25430, MGC20204, SDR19C1	uc001wok.3	Q96LJ7	OTTHUMG00000029333	ENST00000288111.7:c.494_495delTG	14.37:g.24761872_24761873delCA	ENSP00000288111:p.Val165fs					DHRS1_ENST00000396813.1_Frame_Shift_Del_p.V165fs	p.V165fs	NM_001136050.2	NP_001129522.1	Q96LJ7	DHRS1_HUMAN		GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)	5	770_771	-			165					D3DS71|Q8NDG3|Q96B59|Q96CQ5	Frame_Shift_Del	DEL	ENST00000288111.7	37	c.494_495delTG	CCDS9623.1																																																																																				0.550	DHRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073168.4	NM_138452		14	63						14	63	---	---	---	---
PDF	64146	broad.mit.edu	37	16	69362955	69362956	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr16:69362955_69362956insG	ENST00000288022.1	-	2	725_726	c.701_702insC	c.(700-702)acafs	p.T234fs	RP11-343C2.12_ENST00000562949.1_Frame_Shift_Ins_p.Q160fs|COG8_ENST00000564419.1_5'Flank|COG8_ENST00000306875.4_3'UTR	NM_022341.1	NP_071736.1	Q9HBH1	DEFM_HUMAN	peptide deformylase (mitochondrial)	234					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|positive regulation of cell proliferation (GO:0008284)|translation (GO:0006412)	mitochondrion (GO:0005739)	iron ion binding (GO:0005506)|peptide deformylase activity (GO:0042586)			NS(1)|prostate(1)	2						AATAGACGTTTGTGAACGTCCT	0.53																																						ENST00000288022.1																			0				NS(1)|prostate(1)	2						c.(700-702)aaafs		peptide deformylase (mitochondrial)																																				SO:0001589	frameshift_variant	64146				N-terminal protein amino acid modification|peptidyl-methionine modification|positive regulation of cell proliferation|translation	mitochondrion	iron ion binding|peptide deformylase activity	g.chr16:69362955_69362956insG	AF239156	CCDS10875.1	16q22.1	2008-02-05				ENSG00000258429	3.5.1.88		30012	protein-coding gene	gene with protein product						11060042, 15489958	Standard	NM_022341		Approved		uc002ewx.1	Q9HBH1		ENST00000288022.1:c.702dupC	16.37:g.69362956_69362956dupG	ENSP00000288022:p.Thr234fs					COG8_ENST00000306875.4_3'UTR	p.K234fs	NM_022341.1	NP_071736.1	Q9HBH1	DEFM_HUMAN			2	725_726	-			234					Q8WUN6	Frame_Shift_Ins	INS	ENST00000288022.1	37	c.701_702insC	CCDS10875.1																																																																																				0.530	PDF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413022.1	NM_022341		31	125						31	125	---	---	---	---
LOC146880	146880	broad.mit.edu	37	17	62757842	62757843	+	RNA	INS	-	-	A	rs79383345|rs76968253		TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr17:62757842_62757843insA	ENST00000400873.3	-	0	1605					NR_026899.1																						gactccgtctcaaaaaaaaaaa	0.416																																						ENST00000400873.3																			0																																																			146880							g.chr17:62757842_62757843insA																													17.37:g.62757853_62757853dupA								NR_026899.1						0	1605	-									RNA	INS	ENST00000400873.3	37																																																																																						0.416	hsa-mir-6080.1-201	KNOWN	basic	processed_transcript	processed_transcript				3	6						3	6	---	---	---	---
GFRA4	64096	broad.mit.edu	37	20	3641469	3641469	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr20:3641469delG	ENST00000319242.3	-	2	513	c.514delC	c.(514-516)cagfs	p.Q172fs	GFRA4_ENST00000290417.2_Frame_Shift_Del_p.P145fs			Q9GZZ7	GFRA4_HUMAN	GDNF family receptor alpha 4	172					negative regulation of ossification (GO:0030279)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			large_intestine(1)|lung(2)	3						CGGGGGCGCTGGGCGCTGGGG	0.796																																						ENST00000290417.2																			0				large_intestine(1)|lung(2)	3						c.(433-435)ccfs		GDNF family receptor alpha 4							2.0	3.0	2.0					20																	3641469		1354	2933	4287	SO:0001589	frameshift_variant	64096					anchored to membrane|extracellular region|plasma membrane	receptor activity	g.chr20:3641469delG	AF253318	CCDS13055.1, CCDS13056.1	20p13-p12	2008-07-16			ENSG00000125861	ENSG00000125861			13821	protein-coding gene	gene with protein product	"""persephin receptor"""					10958791, 15225646	Standard	XM_005260793		Approved		uc002win.3	Q9GZZ7	OTTHUMG00000031748	ENST00000319242.3:c.514delC	20.37:g.3641469delG	ENSP00000313423:p.Gln172fs					GFRA4_ENST00000319242.3_Frame_Shift_Del_p.Q172fs	p.P145fs	NM_022139.3|NM_145762.2	NP_071422.1|NP_665705.1	Q9GZZ7	GFRA4_HUMAN			3	434	-			151					Q5JT74|Q9H191|Q9H192	Frame_Shift_Del	DEL	ENST00000319242.3	37	c.435delC	CCDS13056.1																																																																																				0.796	GFRA4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077744.1	NM_145762		2	4						2	4	---	---	---	---
