#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
OR6B2	389090	broad.mit.edu	37	2	240969740	240969740	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:240969740A>T	ENST00000402971.2	-	1	166	c.107T>A	c.(106-108)cTc>cAc	p.L36H		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	36						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(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CAGGACAAAGAGGTAGGTGAG	0.587																																						ENST00000402971.2																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15						c.(106-108)cTc>cAc		olfactory receptor, family 6, subfamily B, member 2							83.0	89.0	87.0					2																	240969740		2080	4222	6302	SO:0001583	missense	389090				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr2:240969740A>T		CCDS46559.1	2q37.3	2012-08-09	2004-10-07	2004-10-07	ENSG00000182083	ENSG00000182083		"""GPCR / Class A : Olfactory receptors"""	15041	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 2 pseudogene"""	OR6B2P			Standard	XM_005247004		Approved		uc010zoc.2	Q6IFH4	OTTHUMG00000152400	ENST00000402971.2:c.107T>A	2.37:g.240969740A>T	ENSP00000384563:p.Leu36His						p.L36H	NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)	1	166	-		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	36					B2RPR3|Q8NGW0	Missense_Mutation	SNP	ENST00000402971.2	37	c.107T>A	CCDS46559.1	.	.	.	.	.	.	.	.	.	.	N	14.39	2.521137	0.44866	.	.	ENSG00000182083	ENST00000402971	T	0.05786	3.39	4.35	4.35	0.52113	.	0.397982	0.18051	N	0.153265	T	0.28167	0.0695	M	0.93898	3.47	0.36245	D	0.853533	D	0.65815	0.995	P	0.58077	0.832	T	0.50474	-0.8824	10	0.87932	D	0	.	11.8057	0.52155	1.0:0.0:0.0:0.0	.	36	Q6IFH4	OR6B2_HUMAN	H	36	ENSP00000384563:L36H	ENSP00000384563:L36H	L	-	2	0	OR6B2	240618413	0.147000	0.22687	0.049000	0.19019	0.006000	0.05464	4.178000	0.58284	1.934000	0.56057	0.477000	0.44152	CTC		0.587	OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326079.1	NM_001005853		35	112	0	0	0	1	0	35	112				
LMO4	8543	broad.mit.edu	37	1	87797826	87797826	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:87797826G>C	ENST00000370544.5	+	2	908	c.128G>C	c.(127-129)tGg>tCg	p.W43S	LMO4_ENST00000370542.1_Missense_Mutation_p.W43S|LMO4_ENST00000489303.1_3'UTR	NM_006769.3	NP_006760.1	P61968	LMO4_HUMAN	LIM domain only 4	43	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of protein complex assembly (GO:0031333)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell activation (GO:0050865)|regulation of cell fate specification (GO:0042659)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron differentiation (GO:0021522)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)|ventral spinal cord interneuron differentiation (GO:0021514)|ventricular septum development (GO:0003281)	transcription factor complex (GO:0005667)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1)	9		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		GACAGCTATTGGCACAGCCGG	0.632																																						ENST00000370544.5																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1)	9						c.(127-129)tGg>tCg		LIM domain only 4							52.0	50.0	50.0					1																	87797826		2203	4300	6503	SO:0001583	missense	8543				neural tube closure|transcription from RNA polymerase II promoter	transcription factor complex	sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr1:87797826G>C	U24576	CCDS713.1	1p22.3	2008-02-05			ENSG00000143013	ENSG00000143013			6644	protein-coding gene	gene with protein product		603129					Standard	NM_006769		Approved		uc001dmi.3	P61968	OTTHUMG00000010248	ENST00000370544.5:c.128G>C	1.37:g.87797826G>C	ENSP00000359575:p.Trp43Ser					LMO4_ENST00000370542.1_Missense_Mutation_p.W43S|LMO4_ENST00000489303.1_3'UTR	p.W43S	NM_006769.3	NP_006760.1	P61968	LMO4_HUMAN		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)	2	908	+		Lung NSC(277;0.179)	43			LIM zinc-binding 1.		D3DT23|O00158|O88894	Missense_Mutation	SNP	ENST00000370544.5	37	c.128G>C	CCDS713.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051462	0.75960	.	.	ENSG00000143013	ENST00000370544;ENST00000370542	D;D	0.91180	-2.8;-2.8	5.57	4.66	0.58398	Zinc finger, LIM-type (5);	0.102883	0.64402	D	0.000001	D	0.97508	0.9184	H	0.99800	4.79	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98737	1.0715	10	0.87932	D	0	.	14.4096	0.67106	0.0709:0.0:0.9291:0.0	.	43	P61968	LMO4_HUMAN	S	43	ENSP00000359575:W43S;ENSP00000359573:W43S	ENSP00000359573:W43S	W	+	2	0	LMO4	87570414	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.668000	0.98619	1.360000	0.45960	0.650000	0.86243	TGG		0.632	LMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028264.2	NM_006769		22	47	0	0	0	1	0	22	47				
RYR3	6263	broad.mit.edu	37	15	33944969	33944969	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr15:33944969G>A	ENST00000389232.4	+	32	4263	c.4193G>A	c.(4192-4194)aGt>aAt	p.S1398N	RYR3_ENST00000415757.3_Missense_Mutation_p.S1398N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1398	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATTGTAGCCAGTTCCCAGAGA	0.532																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(4192-4194)aGt>aAt		ryanodine receptor 3							101.0	102.0	102.0					15																	33944969		2024	4191	6215	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33944969G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.4193G>A	15.37:g.33944969G>A	ENSP00000373884:p.Ser1398Asn					RYR3_ENST00000415757.3_Missense_Mutation_p.S1398N	p.S1398N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	32	4263	+		all_lung(180;7.18e-09)	1398			4 X approximate repeats.|B30.2/SPRY 3.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.4193G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.404039	0.25291	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.60797	0.16;0.16	5.52	2.4	0.29515	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.463790	0.23526	N	0.047240	T	0.33059	0.0850	N	0.16903	0.455	0.29927	N	0.822234	B;B	0.06786	0.001;0.0	B;B	0.10450	0.001;0.005	T	0.15925	-1.0420	10	0.17369	T	0.5	.	4.5537	0.12126	0.4286:0.2701:0.3013:0.0	.	1398;1398	Q15413-2;Q15413	.;RYR3_HUMAN	N	1398	ENSP00000373884:S1398N;ENSP00000399610:S1398N	ENSP00000354735:S1398N	S	+	2	0	RYR3	31732261	0.001000	0.12720	0.980000	0.43619	0.950000	0.60333	0.635000	0.24629	0.322000	0.23283	0.650000	0.86243	AGT		0.532	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			4	45	0	0	0	1	0	4	45				
DCAF4L1	285429	broad.mit.edu	37	4	41984280	41984280	+	Silent	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr4:41984280G>A	ENST00000333141.5	+	1	568	c.471G>A	c.(469-471)gtG>gtA	p.V157V		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	157										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GCTGTGCAGTGCTGCTCCCAG	0.572																																						ENST00000333141.5																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						c.(469-471)gtG>gtA		DDB1 and CUL4 associated factor 4-like 1							100.0	93.0	95.0					4																	41984280		2203	4300	6503	SO:0001819	synonymous_variant	285429							g.chr4:41984280G>A	BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"""WD repeat domain containing"""	27723	protein-coding gene	gene with protein product			"""WD repeat domain 21B"""	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.471G>A	4.37:g.41984280G>A							p.V157V	NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN			1	568	+			157					B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Silent	SNP	ENST00000333141.5	37	c.471G>A	CCDS33978.1																																																																																				0.572	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	NM_001029955		60	69	0	0	0	1	0	60	69				
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C	rs200733272|rs371950649	byFrequency	TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692													g|||	17	0.00339457	0.003	0.0043	5008	,	,		11369	0.004		0.002	False		,,,				2504	0.0041					ENST00000270631.1																			2	Substitution - Missense(2)	p.L22V(2)	endometrium(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6						c.(64-66)Ctg>Gtg		parathyroid hormone 2			VAL/LEU	12,4376		0,12,2182	12.0	16.0	14.0		64	3.3	0.0	19		14	11,8561		0,11,4275	no	missense	PTH2	NM_178449.3	32	0,23,6457	CC,CG,GG		0.1283,0.2735,0.1775	possibly-damaging	22/101	49926533	23,12937	2194	4286	6480	SO:0001583	missense	113091				neuropeptide signaling pathway	extracellular region		g.chr19:49926533G>C	AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.64C>G	19.37:g.49926533G>C	ENSP00000270631:p.Leu22Val						p.L22V	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)	1	165	-			22					Q96DJ4	Missense_Mutation	SNP	ENST00000270631.1	37	c.64C>G	CCDS12763.1	.	.	.	.	.	.	.	.	.	.	g	6.292	0.421904	0.11928	0.002735	0.001283	ENSG00000142538	ENST00000270631	.	.	.	4.3	3.26	0.37387	.	0.489236	0.15528	U	0.257640	T	0.26521	0.0648	L	0.27053	0.805	0.09310	N	1	P	0.46142	0.873	B	0.39419	0.299	T	0.08066	-1.0740	9	0.87932	D	0	-7.2733	12.3672	0.55234	0.0:0.1717:0.8283:0.0	.	22	Q96A98	TIP39_HUMAN	V	22	.	ENSP00000270631:L22V	L	-	1	2	PTH2	54618345	0.088000	0.21588	0.012000	0.15200	0.011000	0.07611	-0.504000	0.06375	0.947000	0.37659	-0.370000	0.07254	CTG		0.692	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	NM_178449		3	40	0	0	0	1	0	3	40				
SLC6A1	6529	broad.mit.edu	37	3	11064040	11064040	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:11064040G>A	ENST00000287766.4	+	7	1021	c.600G>A	c.(598-600)atG>atA	p.M200I	SLC6A1_ENST00000536032.1_Missense_Mutation_p.M22I	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	200					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	TGCATCAGATGACGGACGGGC	0.592																																						ENST00000287766.4																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26						c.(598-600)atG>atA		solute carrier family 6 (neurotransmitter transporter), member 1	Cocaine(DB00907)|Tiagabine(DB00906)						74.0	65.0	68.0					3																	11064040		2203	4300	6503	SO:0001583	missense	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11064040G>A		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.600G>A	3.37:g.11064040G>A	ENSP00000287766:p.Met200Ile					SLC6A1_ENST00000536032.1_Missense_Mutation_p.M22I	p.M200I	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	7	1021	+		Ovarian(110;0.0392)	200					Q8N4K8	Missense_Mutation	SNP	ENST00000287766.4	37	c.600G>A	CCDS2603.1	.	.	.	.	.	.	.	.	.	.	G	9.874	1.199758	0.22121	.	.	ENSG00000157103	ENST00000287766;ENST00000536032	T;T	0.71579	-0.58;-0.58	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.39358	0.1075	N	0.00811	-1.165	0.80722	D	1	B	0.09022	0.002	B	0.15052	0.012	T	0.51980	-0.8636	10	0.02654	T	1	.	18.5391	0.91020	0.0:0.0:1.0:0.0	.	200	P30531	SC6A1_HUMAN	I	200;22	ENSP00000287766:M200I;ENSP00000445171:M22I	ENSP00000287766:M200I	M	+	3	0	SLC6A1	11039040	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.425000	0.66470	2.607000	0.88179	0.561000	0.74099	ATG		0.592	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		9	14	0	0	0	1	0	9	14				
ZNF551	90233	broad.mit.edu	37	19	58197936	58197936	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr19:58197936C>A	ENST00000282296.5	+	3	478	c.293C>A	c.(292-294)aCc>aAc	p.T98N	AC003006.7_ENST00000594684.1_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000599402.1_3'UTR|ZNF551_ENST00000356715.4_Missense_Mutation_p.T82N			Q7Z340	ZN551_HUMAN	zinc finger protein 551	98	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)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AATACACCCACCCAGAAAACT	0.473																																						ENST00000282296.5																			0				endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15						c.(292-294)aCc>aAc		zinc finger protein 551							120.0	116.0	117.0					19																	58197936		2203	4300	6503	SO:0001583	missense	90233				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58197936C>A	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.293C>A	19.37:g.58197936C>A	ENSP00000282296:p.Thr98Asn					ZNF551_ENST00000599402.1_3'UTR|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.T82N	p.T98N	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	478	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	98			KRAB.		B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	c.293C>A	CCDS12959.2	.	.	.	.	.	.	.	.	.	.	C	6.911	0.537630	0.13188	.	.	ENSG00000204519	ENST00000356715;ENST00000282296	.	.	.	2.08	-1.44	0.08856	Krueppel-associated box (1);	.	.	.	.	T	0.17619	0.0423	N	0.14661	0.345	0.09310	N	1	P	0.49961	0.93	P	0.45881	0.496	T	0.20472	-1.0274	8	0.25106	T	0.35	.	6.3961	0.21613	0.0:0.5841:0.0:0.4159	.	98	Q7Z340	ZN551_HUMAN	N	98;82	.	ENSP00000282296:T82N	T	+	2	0	ZNF551	62889748	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.105000	0.10907	-0.271000	0.09272	0.555000	0.69702	ACC		0.473	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		6	204	1	0	0.00448238	1	0.00460151	6	204				
ZNF236	7776	broad.mit.edu	37	18	74624207	74624207	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr18:74624207G>T	ENST00000253159.8	+	17	3005	c.2807G>T	c.(2806-2808)cGc>cTc	p.R936L	ZNF236_ENST00000320610.9_Missense_Mutation_p.R938L	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	936					cellular response to glucose stimulus (GO:0071333)|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)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TAGACAACTCGCTTGATTCAG	0.423																																						ENST00000253159.8																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(2806-2808)cGc>cTc		zinc finger protein 236							58.0	57.0	57.0					18																	74624207		1881	4111	5992	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74624207G>T	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.2807G>T	18.37:g.74624207G>T	ENSP00000253159:p.Arg936Leu					ZNF236_ENST00000320610.9_Missense_Mutation_p.R938L	p.R936L	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	17	3005	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	936					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.2807G>T	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.780323	0.49891	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.11063	2.81;2.99	5.63	3.8	0.43715	.	0.120709	0.56097	D	0.000022	T	0.14141	0.0342	M	0.65975	2.015	0.33666	D	0.610312	P	0.37276	0.589	B	0.37550	0.253	T	0.12293	-1.0553	10	0.12766	T	0.61	.	16.0234	0.80516	0.0:0.2782:0.7218:0.0	.	936	Q9UL36	ZN236_HUMAN	L	936	ENSP00000253159:R936L;ENSP00000444524:R936L	ENSP00000253159:R936L	R	+	2	0	ZNF236	72753195	0.999000	0.42202	0.052000	0.19188	0.987000	0.75469	3.122000	0.50446	0.677000	0.31305	0.655000	0.94253	CGC		0.423	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			12	16	1	0	5.50884e-06	1	5.89007e-06	12	16				
KIF14	9928	broad.mit.edu	37	1	200555345	200555345	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:200555345T>C	ENST00000367350.4	-	19	3563	c.3125A>G	c.(3124-3126)gAc>gGc	p.D1042G		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1042	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GATGCTATGGTCTTCTAAAGC	0.348																																						ENST00000367350.4																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						c.(3124-3126)gAc>gGc		kinesin family member 14							113.0	116.0	115.0					1																	200555345		2203	4299	6502	SO:0001583	missense	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200555345T>C	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.3125A>G	1.37:g.200555345T>C	ENSP00000356319:p.Asp1042Gly						p.D1042G	NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN			19	3563	-			1042			Required for CIT-binding.		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	c.3125A>G	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.292678	0.80914	.	.	ENSG00000118193	ENST00000367350	T	0.16897	2.31	4.97	4.97	0.65823	.	0.058769	0.64402	D	0.000003	T	0.40145	0.1105	M	0.69823	2.125	0.42079	D	0.991242	D	0.89917	1.0	D	0.66847	0.947	T	0.34825	-0.9813	10	0.66056	D	0.02	.	14.9346	0.70944	0.0:0.0:0.0:1.0	.	1042	Q15058	KIF14_HUMAN	G	1042	ENSP00000356319:D1042G	ENSP00000356319:D1042G	D	-	2	0	KIF14	198821968	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.410000	0.73294	1.976000	0.57569	0.402000	0.26972	GAC		0.348	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		31	53	0	0	0	1	0	31	53				
ZFHX4	79776	broad.mit.edu	37	8	77768272	77768272	+	Missense_Mutation	SNP	G	G	T	rs548118445	byFrequency	TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:77768272G>T	ENST00000521891.2	+	10	9563	c.9115G>T	c.(9115-9117)Gtt>Ttt	p.V3039F	ZFHX4_ENST00000050961.6_Missense_Mutation_p.V2994F|ZFHX4_ENST00000518282.1_Missense_Mutation_p.V3013F|ZFHX4_ENST00000455469.2_Missense_Mutation_p.V2994F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2994					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAGGGAGACCGTTGGCAGTCA	0.502										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(9115-9117)Gtt>Ttt		zinc finger homeobox 4							80.0	79.0	79.0					8																	77768272		1984	4152	6136	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77768272G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9115G>T	8.37:g.77768272G>T	ENSP00000430497:p.Val3039Phe	HNSCC(33;0.089)				ZFHX4_ENST00000455469.2_Missense_Mutation_p.V2994F|ZFHX4_ENST00000050961.6_Missense_Mutation_p.V2994F|ZFHX4_ENST00000518282.1_Missense_Mutation_p.V3013F	p.V3039F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	9563	+			2994					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.9115G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880399	0.33255	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.53857	0.6;0.64;0.62;0.61	5.33	5.33	0.75918	.	0.000000	0.40064	U	0.001194	T	0.68357	0.2992	L	0.58101	1.795	0.45439	D	0.998419	D;D;D	0.71674	0.992;0.995;0.998	P;D;D	0.70016	0.86;0.934;0.967	T	0.69793	-0.5049	10	0.72032	D	0.01	.	15.5763	0.76392	0.0:0.1378:0.8622:0.0	.	2994;2994;3039	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	F	3039;3023;2994;2994;3013	ENSP00000430497:V3039F;ENSP00000399605:V2994F;ENSP00000050961:V2994F;ENSP00000430848:V3013F	ENSP00000050961:V2994F	V	+	1	0	ZFHX4	77930827	1.000000	0.71417	0.738000	0.30950	0.863000	0.49368	4.631000	0.61304	2.777000	0.95525	0.655000	0.94253	GTT		0.502	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		28	62	1	0	1.16021e-09	1	1.34776e-09	28	62				
DNAH7	56171	broad.mit.edu	37	2	196659120	196659120	+	Missense_Mutation	SNP	C	C	A	rs369926836		TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:196659120C>A	ENST00000312428.6	-	57	10758	c.10658G>T	c.(10657-10659)cGa>cTa	p.R3553L	DNAH7_ENST00000409063.1_Missense_Mutation_p.R36L	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3553	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAGGTATGATCGAATGATATT	0.448																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(10657-10659)cGa>cTa		dynein, axonemal, heavy chain 7							173.0	168.0	170.0					2																	196659120		1905	4122	6027	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196659120C>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.10658G>T	2.37:g.196659120C>A	ENSP00000311273:p.Arg3553Leu					DNAH7_ENST00000409063.1_Missense_Mutation_p.R36L	p.R3553L	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			57	10758	-			3553			AAA 6 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.10658G>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478789	0.44044	.	.	ENSG00000118997	ENST00000312428;ENST00000409063	T;T	0.10573	2.86;2.86	4.86	4.86	0.63082	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.47192	0.1432	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.63950	-0.6521	10	0.87932	D	0	.	18.1242	0.89581	0.0:1.0:0.0:0.0	.	3553	Q8WXX0	DYH7_HUMAN	L	3553;36	ENSP00000311273:R3553L;ENSP00000386912:R36L	ENSP00000311273:R3553L	R	-	2	0	DNAH7	196367365	0.994000	0.37717	0.998000	0.56505	0.128000	0.20619	2.991000	0.49409	2.666000	0.90696	0.585000	0.79938	CGA		0.448	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		36	93	1	0	6.05902e-23	1	8.14016e-23	36	93				
ERC1	23085	broad.mit.edu	37	12	1481118	1481118	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr12:1481118G>A	ENST00000397203.2	+	16	3306	c.2900G>A	c.(2899-2901)cGt>cAt	p.R967H	ERC1_ENST00000355446.5_Missense_Mutation_p.R967H|ERC1_ENST00000546231.2_Missense_Mutation_p.R971H|ERC1_ENST00000589028.1_Missense_Mutation_p.R967H|ERC1_ENST00000360905.4_Missense_Mutation_p.R967H|ERC1_ENST00000543086.3_Missense_Mutation_p.R939H			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	967					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GAGAAGGATCGTCTGGTACAG	0.507																																						ENST00000397203.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(2899-2901)cGt>cAt		ELKS/RAB6-interacting/CAST family member 1							49.0	51.0	50.0					12																	1481118		2203	4300	6503	SO:0001583	missense	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1481118G>A	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.2900G>A	12.37:g.1481118G>A	ENSP00000380386:p.Arg967His					ERC1_ENST00000543086.3_Missense_Mutation_p.R939H|ERC1_ENST00000546231.2_Missense_Mutation_p.R971H|ERC1_ENST00000360905.4_Missense_Mutation_p.R967H|ERC1_ENST00000589028.1_Missense_Mutation_p.R967H|ERC1_ENST00000355446.5_Missense_Mutation_p.R967H	p.R967H			Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		16	3306	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		967					A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	c.2900G>A	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583469	0.86748	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971	T;T;T;T;T;T;T;T	0.51817	0.73;0.73;0.73;0.73;0.69;0.73;0.73;0.73	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.67211	0.2869	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.76494	0.997;0.994;0.994;0.999	P;P;P;D	0.67725	0.897;0.669;0.669;0.953	T	0.67577	-0.5635	10	0.59425	D	0.04	-12.1414	19.6853	0.95977	0.0:0.0:1.0:0.0	.	675;943;939;967	F5H327;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;RB6I2_HUMAN	H	899;967;943;899;671;939;943;671;967;967;967;943;675	ENSP00000340054:R899H;ENSP00000380386:R967H;ENSP00000438546:R939H;ENSP00000442976:R671H;ENSP00000442739:R967H;ENSP00000347621:R967H;ENSP00000354158:R967H;ENSP00000410064:R943H	ENSP00000299183:R671H	R	+	2	0	ERC1	1351379	1.000000	0.71417	0.529000	0.27951	0.551000	0.35334	9.865000	0.99609	2.642000	0.89623	0.655000	0.94253	CGT		0.507	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		11	24	0	0	0	1	0	11	24				
TP53	7157	broad.mit.edu	37	17	7577097	7577097	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:7577097C>A	ENST00000269305.4	-	8	1030	c.841G>T	c.(841-843)Gac>Tac	p.D281Y	TP53_ENST00000445888.2_Missense_Mutation_p.D281Y|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.D281Y|TP53_ENST00000455263.2_Missense_Mutation_p.D281Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.D281Y	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	281	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.D281N(25)|p.D281H(19)|p.D281Y(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGCGCCGGTCTCTCCCAGGA	0.547		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		86	Substitution - Missense(61)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(2)|Complex - insertion inframe(2)	p.D281N(25)|p.D281H(19)|p.D281Y(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	lung(14)|breast(13)|upper_aerodigestive_tract(8)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(8)|large_intestine(6)|ovary(5)|bone(5)|liver(5)|stomach(4)|central_nervous_system(3)|kidney(2)|skin(2)|biliary_tract(1)|endometrium(1)|oesophagus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM076566	TP53	M		c.(841-843)Gac>Tac	Other conserved DNA damage response genes	tumor protein p53							80.0	69.0	73.0					17																	7577097		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577097C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.841G>T	17.37:g.7577097C>A	ENSP00000269305:p.Asp281Tyr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.D281Y|TP53_ENST00000455263.2_Missense_Mutation_p.D281Y|TP53_ENST00000445888.2_Missense_Mutation_p.D281Y|TP53_ENST00000359597.4_Missense_Mutation_p.D281Y	p.D281Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	973	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	281		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.841G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892841	0.91889	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99874	-7.39;-7.39;-7.39;-7.39;-7.39;-7.39	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99885	0.9945	M	0.92649	3.33	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.997;1.0;0.997;0.997	D	0.96400	0.9296	10	0.87932	D	0	-25.6697	16.1198	0.81342	0.0:1.0:0.0:0.0	.	281;281;281;281	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	Y	281;281;281;281;281;270;149	ENSP00000352610:D281Y;ENSP00000269305:D281Y;ENSP00000398846:D281Y;ENSP00000391127:D281Y;ENSP00000391478:D281Y;ENSP00000425104:D149Y	ENSP00000269305:D281Y	D	-	1	0	TP53	7517822	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GAC		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		21	14	1	0	4.63292e-17	1	5.98985e-17	21	14				
HIST1H2BD	3017	broad.mit.edu	37	6	26158404	26158404	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr6:26158404G>C	ENST00000289316.2	+	1	31	c.7G>C	c.(7-9)Gaa>Caa	p.E3Q	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.E3Q	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	3					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						TACGATGCCTGAACCTACCAA	0.507																																						ENST00000289316.2																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						c.(7-9)Gaa>Caa		histone cluster 1, H2bd							89.0	90.0	90.0					6																	26158404		2203	4300	6503	SO:0001583	missense	3017				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26158404G>C	M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"""Histones / Replication-dependent"""	4747	protein-coding gene	gene with protein product		602799	"""H2B histone family, member B"", ""histone 1, H2bd"""	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.7G>C	6.37:g.26158404G>C	ENSP00000289316:p.Glu3Gln					HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.E3Q	p.E3Q	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN			1	31	+			3						Missense_Mutation	SNP	ENST00000289316.2	37	c.7G>C	CCDS4587.1	.	.	.	.	.	.	.	.	.	.	.	16.54	3.151004	0.57151	.	.	ENSG00000158373	ENST00000377777;ENST00000289316	T;T	0.18657	2.2;2.2	5.13	5.13	0.70059	.	0.325448	0.21773	N	0.069324	T	0.24812	0.0602	L	0.61387	1.9	0.47905	D	0.999546	B	0.33413	0.411	P	0.44772	0.46	T	0.02081	-1.1217	10	0.72032	D	0.01	.	16.1409	0.81522	0.0:0.0:1.0:0.0	.	3	P58876	H2B1D_HUMAN	Q	3	ENSP00000367008:E3Q;ENSP00000289316:E3Q	ENSP00000289316:E3Q	E	+	1	0	HIST1H2BD	26266383	1.000000	0.71417	0.751000	0.31187	0.029000	0.11900	6.327000	0.72910	2.769000	0.95229	0.650000	0.86243	GAA		0.507	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1	NM_021063		7	111	0	0	0	1	0	7	111				
FAT3	120114	broad.mit.edu	37	11	92507248	92507248	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:92507248G>C	ENST00000298047.6	+	6	4254	c.4237G>C	c.(4237-4239)Ggg>Cgg	p.G1413R	FAT3_ENST00000409404.2_Missense_Mutation_p.G1413R|FAT3_ENST00000525166.1_Missense_Mutation_p.G1263R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1413	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAAGGGTGTTGGGACAATTGT	0.413										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(4237-4239)Ggg>Cgg		FAT atypical cadherin 3							119.0	114.0	116.0					11																	92507248		1874	4103	5977	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92507248G>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4237G>C	11.37:g.92507248G>C	ENSP00000298047:p.Gly1413Arg	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.G1263R|FAT3_ENST00000409404.2_Missense_Mutation_p.G1413R	p.G1413R			Q8TDW7	FAT3_HUMAN			6	4254	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1413			Cadherin 13.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.4237G>C		.	.	.	.	.	.	.	.	.	.	G	29.5	5.012499	0.93346	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.04502	3.61;3.61;3.61	5.59	5.59	0.84812	.	.	.	.	.	T	0.37433	0.1003	H	0.96748	3.875	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57545	-0.7793	9	0.87932	D	0	.	19.5708	0.95413	0.0:0.0:1.0:0.0	.	1413	Q8TDW7-3	.	R	1413;1413;1263	ENSP00000298047:G1413R;ENSP00000387040:G1413R;ENSP00000432586:G1263R	ENSP00000298047:G1413R	G	+	1	0	FAT3	92146896	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.278000	0.95766	2.625000	0.88918	0.650000	0.86243	GGG		0.413	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		13	67	0	0	0	1	0	13	67				
ARID1A	8289	broad.mit.edu	37	1	27099913	27099913	+	Silent	SNP	C	C	T	rs142429183		TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:27099913C>T	ENST00000324856.7	+	15	4163	c.3792C>T	c.(3790-3792)gcC>gcT	p.A1264A	ARID1A_ENST00000374152.2_Silent_p.A881A|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_Silent_p.A1264A	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1264					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTCGTGCTGCCGGCCCTGGGC	0.607			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								C|||	1	0.000199681	0.0	0.0	5008	,	,		15889	0.0		0.001	False		,,,				2504	0.0					ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(3790-3792)gcC>gcT		AT rich interactive domain 1A (SWI-like)		C	,	0,4406		0,0,2203	67.0	63.0	64.0		3792,3792	-10.0	0.4	1	dbSNP_134	64	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	ARID1A	NM_006015.4,NM_139135.2	,	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	,	1264/2286,1264/2069	27099913	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27099913C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3792C>T	1.37:g.27099913C>T						ARID1A_ENST00000457599.2_Silent_p.A1264A|ARID1A_ENST00000374152.2_Silent_p.A881A|ARID1A_ENST00000540690.1_5'UTR	p.A1264A	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	15	4163	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1264					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	ENST00000324856.7	37	c.3792C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	3.711	-0.059626	0.07317	0.0	4.65E-4	ENSG00000117713	ENST00000430799	.	.	.	5.02	-10.0	0.00425	.	.	.	.	.	T	0.44953	0.1318	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53308	-0.8457	4	.	.	.	-0.1137	7.2683	0.26242	0.2984:0.2565:0.0:0.4451	.	.	.	.	W	161	.	.	R	+	1	2	ARID1A	26972500	0.006000	0.16342	0.445000	0.26908	0.936000	0.57629	-1.244000	0.02902	-2.200000	0.00747	-0.797000	0.03246	CGG		0.607	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		37	58	0	0	0	1	0	37	58				
WIPF3	644150	broad.mit.edu	37	7	29915483	29915483	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr7:29915483C>A	ENST00000409290.1	+	2	128	c.128C>A	c.(127-129)cCg>cAg	p.P43Q	WIPF3_ENST00000409123.1_Missense_Mutation_p.P43Q|WIPF3_ENST00000242140.5_Missense_Mutation_p.P43Q	NM_001080529.2	NP_001073998.2	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	43					cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)		p.P43L(1)		breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						AGGGCAGATCCGAAAGGCCGG	0.517																																						ENST00000409290.1																			1	Substitution - Missense(1)	p.P43L(1)	large_intestine(1)	breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						c.(127-129)cCg>cAg		WAS/WASL interacting protein family, member 3							64.0	72.0	69.0					7																	29915483		2108	4242	6350	SO:0001583	missense	644150							g.chr7:29915483C>A	AK094250	CCDS56472.1	7p15.1	2006-10-12			ENSG00000122574	ENSG00000122574			22004	protein-coding gene	gene with protein product		612432					Standard	NM_001080529		Approved	CR16, FLJ36931	uc022aaz.1	A6NGB9	OTTHUMG00000152761	ENST00000409290.1:c.128C>A	7.37:g.29915483C>A	ENSP00000386878:p.Pro43Gln					WIPF3_ENST00000242140.5_Missense_Mutation_p.P43Q|WIPF3_ENST00000409123.1_Missense_Mutation_p.P43Q	p.P43Q	NM_001080529.2	NP_001073998.2	B8ZZV2	B8ZZV2_HUMAN			2	128	+			43					B8ZZV2	Missense_Mutation	SNP	ENST00000409290.1	37	c.128C>A	CCDS56472.1	.	.	.	.	.	.	.	.	.	.	C	7.065	0.567142	0.13560	.	.	ENSG00000122574	ENST00000409123;ENST00000409290;ENST00000242140	T;T;T	0.45276	0.9;0.9;0.9	5.22	1.54	0.23209	.	0.466636	0.18447	N	0.140941	T	0.20129	0.0484	N	0.14661	0.345	0.09310	N	1	B	0.29988	0.264	B	0.29942	0.109	T	0.08597	-1.0714	10	0.30078	T	0.28	.	3.3734	0.07229	0.1887:0.5393:0.0:0.272	.	43	A6NGB9	WIPF3_HUMAN	Q	43	ENSP00000386790:P43Q;ENSP00000386878:P43Q;ENSP00000242140:P43Q	ENSP00000242140:P43Q	P	+	2	0	WIPF3	29882008	0.000000	0.05858	0.250000	0.24296	0.520000	0.34377	0.406000	0.21032	0.854000	0.35336	0.643000	0.83706	CCG		0.517	WIPF3-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327705.1			44	43	1	0	2.43468e-25	1	3.29963e-25	44	43				
NSD1	64324	broad.mit.edu	37	5	176707785	176707785	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:176707785C>A	ENST00000439151.2	+	18	5887	c.5842C>A	c.(5842-5844)Cgc>Agc	p.R1948S	NSD1_ENST00000354179.4_Missense_Mutation_p.R1679S|NSD1_ENST00000347982.4_Missense_Mutation_p.R1679S|NSD1_ENST00000361032.4_Missense_Mutation_p.R1845S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1948	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		TGAAATTTTCCGCACATTACA	0.463			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(5842-5844)Cgc>Agc		nuclear receptor binding SET domain protein 1							75.0	75.0	75.0					5																	176707785		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176707785C>A	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5842C>A	5.37:g.176707785C>A	ENSP00000395929:p.Arg1948Ser	HNSCC(47;0.14)				NSD1_ENST00000354179.4_Missense_Mutation_p.R1679S|NSD1_ENST00000347982.4_Missense_Mutation_p.R1679S|NSD1_ENST00000361032.4_Missense_Mutation_p.R1845S	p.R1948S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	18	5887	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1948			SET.		Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.5842C>A	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097257	0.76870	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68	5.92	5.92	0.95590	SET domain (2);	0.000000	0.64402	D	0.000005	D	0.95796	0.8632	M	0.80028	2.48	0.41937	D	0.990593	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.997;0.96	D	0.95627	0.8686	10	0.72032	D	0.01	.	20.3172	0.98658	0.0:1.0:0.0:0.0	.	1679;1845;1948	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	S	1679;1948;1679;1845	ENSP00000346111:R1679S;ENSP00000395929:R1948S;ENSP00000343209:R1679S;ENSP00000354310:R1845S	ENSP00000343209:R1679S	R	+	1	0	NSD1	176640391	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	3.117000	0.50407	2.801000	0.96364	0.650000	0.86243	CGC		0.463	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		12	61	1	0	6.40141e-05	1	6.79737e-05	12	61				
DYSF	8291	broad.mit.edu	37	2	71762412	71762412	+	Silent	SNP	C	C	T	rs202044973		TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:71762412C>T	ENST00000258104.3	+	15	1645	c.1368C>T	c.(1366-1368)tgC>tgT	p.C456C	DYSF_ENST00000409762.1_Silent_p.C487C|DYSF_ENST00000429174.2_Silent_p.C456C|DYSF_ENST00000413539.2_Silent_p.C487C|DYSF_ENST00000409366.1_Silent_p.C457C|DYSF_ENST00000409744.1_Silent_p.C457C|DYSF_ENST00000394120.2_Silent_p.C457C|DYSF_ENST00000409582.3_Silent_p.C487C|DYSF_ENST00000409651.1_Silent_p.C488C|DYSF_ENST00000410020.3_Silent_p.C488C|DYSF_ENST00000410041.1_Silent_p.C488C	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	456	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.		C -> W (in MMD1). {ECO:0000269|PubMed:16010686, ECO:0000269|PubMed:18853459}.		plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCTCCATGTGCGAAAAAATGA	0.522													c|||	1	0.000199681	0.0	0.0	5008	,	,		19078	0.0		0.001	False		,,,				2504	0.0					ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111	GRCh37	CM053215	DYSF	M		c.(1366-1368)tgC>tgT		dysferlin							119.0	121.0	120.0					2																	71762412		2203	4300	6503	SO:0001819	synonymous_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71762412C>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.1368C>T	2.37:g.71762412C>T						DYSF_ENST00000410020.3_Silent_p.C488C|DYSF_ENST00000413539.2_Silent_p.C487C|DYSF_ENST00000409582.3_Silent_p.C487C|DYSF_ENST00000410041.1_Silent_p.C488C|DYSF_ENST00000409366.1_Silent_p.C457C|DYSF_ENST00000409744.1_Silent_p.C457C|DYSF_ENST00000394120.2_Silent_p.C457C|DYSF_ENST00000429174.2_Silent_p.C456C|DYSF_ENST00000409651.1_Silent_p.C488C|DYSF_ENST00000409762.1_Silent_p.C487C	p.C456C	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			15	1645	+			456		C -> W (in MMD1).	C2 3.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	c.1368C>T	CCDS1918.1																																																																																				0.522	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		35	101	0	0	0	1	0	35	101				
DDX20	11218	broad.mit.edu	37	1	112304936	112304936	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:112304936A>T	ENST00000369702.4	+	8	1701	c.1081A>T	c.(1081-1083)Aga>Tga	p.R361*	DDX20_ENST00000536167.1_3'UTR|DDX20_ENST00000475700.1_5'UTR	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	361	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTTCATTGCAGAGTCCTCAT	0.353																																						ENST00000369702.4																			0				endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21						c.(1081-1083)Aga>Tga		DEAD (Asp-Glu-Ala-Asp) box polypeptide 20							206.0	193.0	198.0					1																	112304936		2203	4300	6503	SO:0001587	stop_gained	11218				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding	g.chr1:112304936A>T	AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"""DEAD-boxes"""	2743	protein-coding gene	gene with protein product		606168	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"""			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.1081A>T	1.37:g.112304936A>T	ENSP00000358716:p.Arg361*					DDX20_ENST00000536167.1_3'UTR|DDX20_ENST00000475700.1_5'UTR	p.R361*	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	8	1701	+		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)	361			Helicase C-terminal.		B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Nonsense_Mutation	SNP	ENST00000369702.4	37	c.1081A>T	CCDS842.1	.	.	.	.	.	.	.	.	.	.	A	44	10.545027	0.99425	.	.	ENSG00000064703	ENST00000369702	.	.	.	5.99	3.6	0.41247	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-46.9965	13.1399	0.59428	0.5867:0.4133:0.0:0.0	.	.	.	.	X	361	.	ENSP00000358716:R361X	R	+	1	2	DDX20	112106459	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	1.499000	0.35671	0.456000	0.26937	0.533000	0.62120	AGA		0.353	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2	NM_007204		29	74	0	0	0	1	0	29	74				
PIDD1	55367	broad.mit.edu	37	11	802261	802261	+	Silent	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:802261C>A	ENST00000347755.5	-	6	1251	c.1110G>T	c.(1108-1110)ctG>ctT	p.L370L	PIDD_ENST00000411829.2_Silent_p.L370L|PIDD_ENST00000534649.1_5'Flank	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2																					CATGAGGACCCAGGGGGACGA	0.706																																						ENST00000347755.5																			0											c.(1108-1110)ctG>ctT		p53-induced death domain protein							21.0	26.0	25.0					11																	802261		2193	4295	6488	SO:0001819	synonymous_variant	55367				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	g.chr11:802261C>A																												ENST00000347755.5:c.1110G>T	11.37:g.802261C>A						PIDD_ENST00000411829.2_Silent_p.L370L	p.L370L	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN			6	1251	-			370			ZU5 1.			Silent	SNP	ENST00000347755.5	37	c.1110G>T	CCDS7716.1																																																																																				0.706	PIDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257103.1			21	30	1	0	8.34094e-07	1	9.13954e-07	21	30				
MUC5B	727897	broad.mit.edu	37	11	1264610	1264610	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:1264610C>A	ENST00000529681.1	+	31	6558	c.6500C>A	c.(6499-6501)aCc>aAc	p.T2167N	MUC5B_ENST00000447027.1_Missense_Mutation_p.T2170N|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2167	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		accaccgccaccacacctgca	0.657																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(6508-6510)aCc>aAc		mucin 5B, oligomeric mucus/gel-forming							54.0	81.0	72.0					11																	1264610		2049	4081	6130	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1264610C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6500C>A	11.37:g.1264610C>A	ENSP00000436812:p.Thr2167Asn					MUC5B_ENST00000529681.1_Missense_Mutation_p.T2167N|RP11-532E4.2_ENST00000532061.2_RNA	p.T2170N			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	6567	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2167			11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.6509C>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	5.732	0.319444	0.10845	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637	T;T	0.21734	1.99;2.17	2.04	2.04	0.26737	.	.	.	.	.	T	0.28566	0.0707	L	0.49126	1.545	0.09310	N	1	D	0.54772	0.968	P	0.50860	0.652	T	0.10823	-1.0613	9	0.87932	D	0	.	11.4572	0.50189	0.0:1.0:0.0:0.0	.	2170	E9PBJ0	.	N	2167;2170;2168	ENSP00000436812:T2167N;ENSP00000415793:T2170N	ENSP00000343037:T2168N	T	+	2	0	MUC5B	1221186	0.000000	0.05858	0.015000	0.15790	0.146000	0.21551	0.209000	0.17435	1.072000	0.40860	0.195000	0.17529	ACC		0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		6	6	1	0	0.217242	1	0.217948	6	6				
NRG3	10718	broad.mit.edu	37	10	83635834	83635834	+	Silent	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr10:83635834C>A	ENST00000404547.1	+	1	738	c.738C>A	c.(736-738)ccC>ccA	p.P246P	NRG3_ENST00000372141.2_Silent_p.P246P|NRG3_ENST00000404576.2_5'Flank|NRG3_ENST00000372142.2_5'Flank|NRG3_ENST00000556918.1_5'Flank			P56975	NRG3_HUMAN	neuregulin 3	246	Ser/Thr-rich.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CCCTGTCTCCCTTTCAGGATG	0.547																																						ENST00000404547.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(736-738)ccC>ccA		neuregulin 3																																				SO:0001819	synonymous_variant	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:83635834C>A	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.738C>A	10.37:g.83635834C>A						NRG3_ENST00000372141.2_Silent_p.P246P	p.P246P			P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	1	738	+			246			Ser/Thr-rich.		A4D7U1|Q0PEH2|Q5VYH3	Silent	SNP	ENST00000404547.1	37	c.738C>A	CCDS31233.1																																																																																				0.547	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		7	22	1	0	0.000157383	1	0.000165978	7	22				
TNN	63923	broad.mit.edu	37	1	175092758	175092758	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:175092758G>T	ENST00000239462.4	+	12	2986	c.2873G>T	c.(2872-2874)gGg>gTg	p.G958V		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	958	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.G958V(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCCAGAAGGGGGCCCAGGAG	0.617																																						ENST00000239462.4																			1	Substitution - Missense(1)	p.G958V(1)	large_intestine(1)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(2872-2874)gGg>gTg		tenascin N							74.0	64.0	67.0					1																	175092758		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175092758G>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2873G>T	1.37:g.175092758G>T	ENSP00000239462:p.Gly958Val						p.G958V	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	12	2986	+		Breast(1374;0.000962)	958			Fibronectin type-III 8.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.2873G>T	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.847961	0.71603	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.60797	0.16	5.12	5.12	0.69794	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.176708	0.49305	D	0.000151	D	0.83151	0.5192	H	0.95470	3.675	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88171	0.2864	10	0.72032	D	0.01	.	16.7029	0.85364	0.0:0.0:1.0:0.0	.	958	Q9UQP3	TENN_HUMAN	V	958;781	ENSP00000239462:G958V	ENSP00000239462:G958V	G	+	2	0	TNN	173359381	1.000000	0.71417	0.982000	0.44146	0.571000	0.35966	4.037000	0.57311	2.526000	0.85167	0.462000	0.41574	GGG		0.617	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		42	63	1	0	8.05343e-35	1	1.14678e-34	42	63				
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328		TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51.0	56.0	55.0					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		4	116	0	0	0	1	0	4	116				
ZNF71	58491	broad.mit.edu	37	19	57133098	57133098	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr19:57133098A>T	ENST00000328070.6	+	3	677	c.443A>T	c.(442-444)cAc>cTc	p.H148L		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	148					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CTGATAAAGCACCAAAGGATC	0.577																																						ENST00000328070.6																			0				endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26						c.(442-444)cAc>cTc		zinc finger protein 71							55.0	54.0	54.0					19																	57133098		2203	4300	6503	SO:0001583	missense	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57133098A>T	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.443A>T	19.37:g.57133098A>T	ENSP00000328245:p.His148Leu						p.H148L	NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	677	+			148					Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	37	c.443A>T	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	A	19.21	3.782832	0.70222	.	.	ENSG00000197951	ENST00000328070	D	0.86865	-2.18	3.87	3.87	0.44632	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95194	0.8442	H	0.96576	3.845	0.37113	D	0.900444	D	0.76494	0.999	D	0.79784	0.993	D	0.97382	0.9983	9	0.87932	D	0	.	11.8021	0.52133	1.0:0.0:0.0:0.0	.	148	Q9NQZ8	ZNF71_HUMAN	L	148	ENSP00000328245:H148L	ENSP00000328245:H148L	H	+	2	0	ZNF71	61824910	0.992000	0.36948	0.357000	0.25798	0.858000	0.48976	4.912000	0.63335	1.630000	0.50440	0.459000	0.35465	CAC		0.577	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		47	31	0	0	0	1	0	47	31				
EPN3	55040	broad.mit.edu	37	17	48618684	48618684	+	Silent	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:48618684C>T	ENST00000268933.3	+	8	1923	c.1344C>T	c.(1342-1344)agC>agT	p.S448S	EPN3_ENST00000541226.1_3'UTR|RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000537145.1_Silent_p.S476S	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	448						clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			GGAAGCCCAGCAGCCCTGTGG	0.652																																						ENST00000268933.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(1342-1344)agC>agT		epsin 3							90.0	97.0	94.0					17																	48618684		2203	4300	6503	SO:0001819	synonymous_variant	55040					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding	g.chr17:48618684C>T	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.1344C>T	17.37:g.48618684C>T						EPN3_ENST00000537145.1_Silent_p.S476S|EPN3_ENST00000541226.1_3'UTR	p.S448S	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.88e-09)		8	1923	+	Breast(11;1.23e-18)		448					A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Silent	SNP	ENST00000268933.3	37	c.1344C>T	CCDS11570.1																																																																																				0.652	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	NM_017957		68	210	0	0	0	1	0	68	210				
FAM3D	131177	broad.mit.edu	37	3	58639476	58639476	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:58639476T>C	ENST00000358781.2	-	3	356	c.46A>G	c.(46-48)Ata>Gta	p.I16V		NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	16					negative regulation of insulin secretion (GO:0046676)	extracellular region (GO:0005576)	cytokine activity (GO:0005125)			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		GTCGTGACTATGGCAAAGATG	0.567																																						ENST00000358781.2																			0				large_intestine(1)|lung(2)	3						c.(46-48)Ata>Gta		family with sequence similarity 3, member D							118.0	112.0	114.0					3																	58639476		2203	4300	6503	SO:0001583	missense	131177				negative regulation of insulin secretion	extracellular region	cytokine activity	g.chr3:58639476T>C	AF494381	CCDS2893.1	3p21.1	2008-07-18			ENSG00000198643	ENSG00000198643			18665	protein-coding gene	gene with protein product		608619				12160727	Standard	NM_138805		Approved	EF7, OIT1	uc003dkq.3	Q96BQ1	OTTHUMG00000159148	ENST00000358781.2:c.46A>G	3.37:g.58639476T>C	ENSP00000351632:p.Ile16Val						p.I16V	NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)	3	356	-			16					Q547G2	Missense_Mutation	SNP	ENST00000358781.2	37	c.46A>G	CCDS2893.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.585226	0.00872	.	.	ENSG00000198643	ENST00000358781;ENST00000483787;ENST00000498347	T;T;T	0.46819	0.86;2.14;1.73	4.26	-3.06	0.05379	.	0.956622	0.08585	N	0.923968	T	0.16300	0.0392	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31503	-0.9941	10	0.02654	T	1	-0.8791	7.9716	0.30130	0.0:0.3749:0.2206:0.4045	.	16	Q96BQ1	FAM3D_HUMAN	V	16	ENSP00000351632:I16V;ENSP00000417099:I16V;ENSP00000418982:I16V	ENSP00000351632:I16V	I	-	1	0	FAM3D	58614516	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.308000	0.02730	-0.769000	0.04620	-0.729000	0.03580	ATA		0.567	FAM3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353494.1	NM_138805		36	38	0	0	0	1	0	36	38				
RBX1	9978	broad.mit.edu	37	22	41349589	41349589	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr22:41349589A>G	ENST00000216225.8	+	2	149	c.109A>G	c.(109-111)Att>Gtt	p.I37V	XPNPEP3_ENST00000544094.1_3'UTR	NM_014248.3	NP_055063.1	P62877	RBX1_HUMAN	ring-box 1, E3 ubiquitin protein ligase	37					cellular response to hypoxia (GO:0071456)|DNA repair (GO:0006281)|Notch signaling pathway (GO:0007219)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein neddylation (GO:0045116)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|Cul5-RING ubiquitin ligase complex (GO:0031466)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SCF ubiquitin ligase complex (GO:0019005)|VCB complex (GO:0030891)	NEDD8 ligase activity (GO:0019788)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(3)|skin(1)	5						GGCCTGGGATATTGTGGTTGA	0.463																																						ENST00000216225.8																			0				large_intestine(1)|lung(3)|skin(1)	5						c.(109-111)Att>Gtt		ring-box 1, E3 ubiquitin protein ligase							230.0	202.0	212.0					22																	41349589		2203	4300	6503	SO:0001583	missense	9978				DNA repair|interspecies interaction between organisms|protein neddylation|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	Cul3-RING ubiquitin ligase complex|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytosol|nucleus|SCF ubiquitin ligase complex	NEDD8 ligase activity|protein binding|zinc ion binding	g.chr22:41349589A>G	AF140598	CCDS14009.1	22q13.2	2010-09-17	2010-09-17		ENSG00000100387	ENSG00000100387		"""RING-type (C3HC4) zinc fingers"""	9928	protein-coding gene	gene with protein product	"""regulator of cullins 1"""	603814	"""ring-box 1"""			10213691, 10230407	Standard	NM_014248		Approved	ROC1, RNF75, BA554C12.1	uc003azk.3	P62877	OTTHUMG00000151298	ENST00000216225.8:c.109A>G	22.37:g.41349589A>G	ENSP00000216225:p.Ile37Val					XPNPEP3_ENST00000544094.1_3'UTR	p.I37V	NM_014248.3	NP_055063.1	P62877	RBX1_HUMAN			2	149	+			37					B2RDY1|Q8N6Z8|Q9D1S2|Q9WUK9|Q9Y254	Missense_Mutation	SNP	ENST00000216225.8	37	c.109A>G	CCDS14009.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.050824	0.55218	.	.	ENSG00000100387	ENST00000216225	.	.	.	5.79	5.79	0.91817	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-H2-type (1);	0.000000	0.85682	D	0.000000	T	0.54515	0.1863	L	0.35593	1.075	0.80722	D	1	B	0.18968	0.032	B	0.30943	0.122	T	0.49504	-0.8933	9	0.21540	T	0.41	.	15.1241	0.72469	1.0:0.0:0.0:0.0	.	37	P62877	RBX1_HUMAN	V	37	.	ENSP00000216225:I37V	I	+	1	0	RBX1	39679535	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.713000	0.91408	2.198000	0.70561	0.533000	0.62120	ATT		0.463	RBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322149.1	NM_014248		42	67	0	0	0	1	0	42	67				
KDM4B	23030	broad.mit.edu	37	19	5137683	5137683	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr19:5137683A>G	ENST00000159111.4	+	17	2655	c.2437A>G	c.(2437-2439)Agg>Ggg	p.R813G	KDM4B_ENST00000536461.1_Missense_Mutation_p.R847G	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	813					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GACCACCGATAGGAGGTGGGT	0.687																																						ENST00000159111.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(2437-2439)Agg>Ggg		lysine (K)-specific demethylase 4B							32.0	34.0	33.0					19																	5137683		2201	4300	6501	SO:0001583	missense	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5137683A>G	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.2437A>G	19.37:g.5137683A>G	ENSP00000159111:p.Arg813Gly					KDM4B_ENST00000536461.1_Missense_Mutation_p.R847G	p.R813G	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN			17	2655	+			813					B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	37	c.2437A>G	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	A	8.552	0.875767	0.17395	.	.	ENSG00000127663	ENST00000159111;ENST00000536461	T;T	0.12774	2.65;2.65	3.56	-2.25	0.06888	.	0.697639	0.14865	N	0.293877	T	0.02047	0.0064	N	0.00112	-2.095	0.23920	N	0.996469	B;B	0.06786	0.0;0.001	B;B	0.10450	0.001;0.005	T	0.44467	-0.9326	10	0.10636	T	0.68	-23.4251	8.0905	0.30797	0.2376:0.6386:0.1238:0.0	.	847;813	F5GX28;O94953	.;KDM4B_HUMAN	G	813;847	ENSP00000159111:R813G;ENSP00000440495:R847G	ENSP00000159111:R813G	R	+	1	2	KDM4B	5088683	0.811000	0.29063	0.898000	0.35279	0.763000	0.43281	0.353000	0.20130	-0.930000	0.03752	0.459000	0.35465	AGG		0.687	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		5	7	0	0	0	1	0	5	7				
ITGA3	3675	broad.mit.edu	37	17	48145651	48145651	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:48145651G>A	ENST00000320031.8	+	4	976	c.646G>A	c.(646-648)Ggt>Agt	p.G216S	ITGA3_ENST00000544892.1_Intron|ITGA3_ENST00000007722.7_Missense_Mutation_p.G216S	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	216					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CGGCGCCCCCGGTGCCTACAA	0.612																																						ENST00000320031.8																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						c.(646-648)Ggt>Agt		integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)							43.0	44.0	43.0					17																	48145651		2203	4300	6503	SO:0001583	missense	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48145651G>A	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.646G>A	17.37:g.48145651G>A	ENSP00000315190:p.Gly216Ser					ITGA3_ENST00000544892.1_Intron|ITGA3_ENST00000007722.7_Missense_Mutation_p.G216S	p.G216S	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN			4	976	+			216					A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	c.646G>A	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	G	33	5.214677	0.95104	.	.	ENSG00000005884	ENST00000007722;ENST00000538917;ENST00000320031	T;T	0.63913	-0.07;-0.07	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.84325	0.5447	M	0.92507	3.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.88206	0.2887	10	0.87932	D	0	.	17.8421	0.88718	0.0:0.0:1.0:0.0	.	216;216	P26006-1;P26006	.;ITA3_HUMAN	S	216;202;216	ENSP00000007722:G216S;ENSP00000315190:G216S	ENSP00000007722:G216S	G	+	1	0	ITGA3	45500650	1.000000	0.71417	0.241000	0.24154	0.903000	0.53119	9.502000	0.97981	2.486000	0.83907	0.650000	0.86243	GGT		0.612	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		4	100	0	0	0	1	0	4	100				
OR52N1	79473	broad.mit.edu	37	11	5809420	5809420	+	Silent	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:5809420C>A	ENST00000317078.1	-	1	626	c.627G>T	c.(625-627)ggG>ggT	p.G209G	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TATCAAAGCCCCCAATCAGCA	0.468																																						ENST00000317078.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31						c.(625-627)ggG>ggT		olfactory receptor, family 52, subfamily N, member 1							143.0	126.0	132.0					11																	5809420		2201	4296	6497	SO:0001819	synonymous_variant	79473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5809420C>A	AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"""GPCR / Class A : Olfactory receptors"""	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.627G>T	11.37:g.5809420C>A						TRIM5_ENST00000380027.1_Intron	p.G209G	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	626	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	209					Q6IFF6	Silent	SNP	ENST00000317078.1	37	c.627G>T	CCDS31398.1																																																																																				0.468	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401142.1	NM_001001913		19	67	1	0	2.94398e-08	1	3.35679e-08	19	67				
PIWIL2	55124	broad.mit.edu	37	8	22145047	22145047	+	Silent	SNP	T	T	C	rs180791960	byFrequency	TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:22145047T>C	ENST00000454009.2	+	7	1259	c.750T>C	c.(748-750)aaT>aaC	p.N250N	PIWIL2_ENST00000356766.6_Silent_p.N250N|PIWIL2_ENST00000521356.1_Silent_p.N250N	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	250					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CCAGCCCCAATGTGGAGTGCA	0.453											OREG0018608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000356766.6																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(748-750)aaT>aaC		piwi-like RNA-mediated gene silencing 2							142.0	118.0	126.0					8																	22145047		2203	4300	6503	SO:0001819	synonymous_variant	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22145047T>C	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.750T>C	8.37:g.22145047T>C			OREG0018608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	753	PIWIL2_ENST00000454009.2_Silent_p.N250N|PIWIL2_ENST00000521356.1_Silent_p.N250N	p.N250N	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	7	898	+			250					A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Silent	SNP	ENST00000454009.2	37	c.750T>C	CCDS6029.1																																																																																				0.453	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			21	76	0	0	0	1	0	21	76				
ZC2HC1A	51101	broad.mit.edu	37	8	79588092	79588092	+	Silent	SNP	A	A	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:79588092A>T	ENST00000263849.4	+	2	189	c.87A>T	c.(85-87)gtA>gtT	p.V29V	ZC2HC1A_ENST00000521176.1_Intron	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	29							metal ion binding (GO:0046872)										TCTTTCCAGTAGCATTAGTGA	0.333																																						ENST00000263849.4																			0											c.(85-87)gtA>gtT		zinc finger, C2HC-type containing 1A							186.0	183.0	184.0					8																	79588092		2203	4299	6502	SO:0001819	synonymous_variant	51101							g.chr8:79588092A>T		CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"""Zinc fingers, C2HC-type containing"""	24277	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 70"", ""family with sequence similarity 164, member A"""	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.87A>T	8.37:g.79588092A>T						ZC2HC1A_ENST00000521176.1_Intron	p.V29V	NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN			2	189	+			29					Q9Y372	Silent	SNP	ENST00000263849.4	37	c.87A>T	CCDS6223.1																																																																																				0.333	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379423.2	NM_016010		35	85	0	0	0	1	0	35	85				
ST8SIA3	51046	broad.mit.edu	37	18	55024592	55024592	+	Missense_Mutation	SNP	C	C	T	rs267605214		TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr18:55024592C>T	ENST00000324000.3	+	3	2785	c.751C>T	c.(751-753)Cac>Tac	p.H251Y		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	251					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		ATTTTTCTTCCACACTTCAGC	0.403																																						ENST00000324000.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36						c.(751-753)Cac>Tac		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3							54.0	54.0	54.0					18																	55024592		2194	4281	6475	SO:0001583	missense	51046				glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr18:55024592C>T	AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"""Sialyltransferases"""	14269	protein-coding gene	gene with protein product	"""ST8Sia III"""	609478	"""sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"""	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.751C>T	18.37:g.55024592C>T	ENSP00000320431:p.His251Tyr						p.H251Y	NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN		READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)	3	2785	+			251					A8K0F2|Q6B085|Q9NS41	Missense_Mutation	SNP	ENST00000324000.3	37	c.751C>T	CCDS32834.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030930	0.75504	.	.	ENSG00000177511	ENST00000541833;ENST00000324000	T	0.30448	1.53	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.58764	0.2145	M	0.75615	2.305	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.59096	-0.7518	10	0.66056	D	0.02	-19.789	19.7585	0.96304	0.0:1.0:0.0:0.0	.	251	O43173	SIA8C_HUMAN	Y	358;251	ENSP00000320431:H251Y	ENSP00000320431:H251Y	H	+	1	0	ST8SIA3	53175590	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.466000	0.80914	2.773000	0.95371	0.655000	0.94253	CAC		0.403	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1	NM_015879		32	32	0	0	0	1	0	32	32				
OTUD7B	56957	broad.mit.edu	37	1	149915899	149915899	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:149915899G>C	ENST00000369135.4	-	12	2683	c.2389C>G	c.(2389-2391)Cca>Gca	p.P797A		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	797					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GTCTGAGTTGGGGGAAGGCCC	0.542																																						ENST00000369135.3																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2389-2391)Cca>Gca		OTU domain containing 7B							121.0	121.0	121.0					1																	149915899		1902	4129	6031	SO:0001583	missense	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	g.chr1:149915899G>C	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.2389C>G	1.37:g.149915899G>C	ENSP00000358131:p.Pro797Ala						p.P797A	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		12	2683	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		797					B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	ENST00000369135.4	37	c.2389C>G	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	G	9.254	1.041437	0.19669	.	.	ENSG00000163113	ENST00000369135;ENST00000543330	T	0.29397	1.57	4.93	4.01	0.46588	Zinc finger, A20-type (1);	0.557265	0.19663	N	0.108940	T	0.07593	0.0191	N	0.24115	0.695	0.30106	N	0.806994	B	0.10296	0.003	B	0.04013	0.001	T	0.25916	-1.0118	9	.	.	.	-7.8976	10.4604	0.44577	0.0:0.0:0.8059:0.1941	.	797	Q6GQQ9	OTU7B_HUMAN	A	797	ENSP00000358131:P797A	.	P	-	1	0	OTUD7B	148182523	0.972000	0.33761	1.000000	0.80357	0.916000	0.54674	1.048000	0.30379	1.271000	0.44313	0.557000	0.71058	CCA		0.542	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		54	123	0	0	0	1	0	54	123				
FAM47A	158724	broad.mit.edu	37	X	34149744	34149744	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chrX:34149744T>G	ENST00000346193.3	-	1	703	c.652A>C	c.(652-654)Act>Cct	p.T218P		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	218	Pro-rich.									NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GACACCGGAGTCTTGGGAGGC	0.657																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(652-654)Act>Cct		family with sequence similarity 47, member A							33.0	36.0	35.0					X																	34149744		2200	4298	6498	SO:0001583	missense	158724							g.chrX:34149744T>G	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.652A>C	X.37:g.34149744T>G	ENSP00000345029:p.Thr218Pro						p.T218P	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	703	-			218			Pro-rich.		A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.652A>C	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	T	3.955	-0.011452	0.07727	.	.	ENSG00000185448	ENST00000346193	T	0.19394	2.15	0.235	-0.47	0.12131	.	.	.	.	.	T	0.14485	0.0350	L	0.46157	1.445	0.09310	N	1	B	0.27625	0.183	B	0.26416	0.069	T	0.31833	-0.9929	8	0.45353	T	0.12	.	.	.	.	.	218	Q5JRC9	FA47A_HUMAN	P	218	ENSP00000345029:T218P	ENSP00000345029:T218P	T	-	1	0	FAM47A	34059665	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-1.328000	0.02680	-2.553000	0.00478	-2.724000	0.00131	ACT		0.657	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		36	17	0	0	0	1	0	36	17				
OR5J2	282775	broad.mit.edu	37	11	55944850	55944850	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:55944850G>A	ENST00000312298.1	+	1	757	c.757G>A	c.(757-759)Ggt>Agt	p.G253S		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CATATTCTATGGTACCTTAAT	0.448																																						ENST00000312298.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44						c.(757-759)Ggt>Agt		olfactory receptor, family 5, subfamily J, member 2							128.0	123.0	124.0					11																	55944850		2201	4296	6497	SO:0001583	missense	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944850G>A	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.757G>A	11.37:g.55944850G>A	ENSP00000310788:p.Gly253Ser						p.G253S	NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN			1	757	+	Esophageal squamous(21;0.00693)		253					Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	c.757G>A	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337640	0.60963	.	.	ENSG00000174957	ENST00000312298	T	0.38401	1.14	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000026	T	0.53286	0.1787	M	0.77103	2.36	0.43598	D	0.99595	D	0.56521	0.976	P	0.52823	0.71	T	0.63265	-0.6676	10	0.66056	D	0.02	.	16.6913	0.85322	0.0:0.0:1.0:0.0	.	253	Q8NH18	OR5J2_HUMAN	S	253	ENSP00000310788:G253S	ENSP00000310788:G253S	G	+	1	0	OR5J2	55701426	0.002000	0.14202	0.339000	0.25562	0.006000	0.05464	0.841000	0.27613	2.124000	0.65301	0.591000	0.81541	GGT		0.448	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		50	118	0	0	0	1	0	50	118				
SPAG1	6674	broad.mit.edu	37	8	101245762	101245762	+	Silent	SNP	C	C	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:101245762C>G	ENST00000388798.2	+	16	2303	c.2112C>G	c.(2110-2112)ctC>ctG	p.L704L	SPAG1_ENST00000251809.3_Silent_p.L704L	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	704					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		ATAAAGGACTCAAGGTGAGGA	0.438																																						ENST00000388798.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(2110-2112)ctC>ctG		sperm associated antigen 1							55.0	50.0	52.0					8																	101245762		2202	4299	6501	SO:0001819	synonymous_variant	6674				single fertilization	cytoplasm	GTP binding|hydrolase activity	g.chr8:101245762C>G	AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"""Tetratricopeptide (TTC) repeat domain containing"""	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.2112C>G	8.37:g.101245762C>G						SPAG1_ENST00000251809.3_Silent_p.L704L	p.L704L	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)	16	2303	+	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	704					A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Silent	SNP	ENST00000388798.2	37	c.2112C>G	CCDS34930.1																																																																																				0.438	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379853.2	NM_172218		5	6	0	0	0	1	0	5	6				
OR8H3	390152	broad.mit.edu	37	11	55890061	55890061	+	Missense_Mutation	SNP	C	C	A	rs529741757		TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:55890061C>A	ENST00000313472.3	+	1	213	c.213C>A	c.(211-213)gaC>gaA	p.D71E		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CATTTATTGACCTCAGTTACT	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		21098	0.0		0.0	False		,,,				2504	0.001					ENST00000313472.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42						c.(211-213)gaC>gaA		olfactory receptor, family 8, subfamily H, member 3							247.0	245.0	245.0					11																	55890061		2201	4293	6494	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890061C>A	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.213C>A	11.37:g.55890061C>A	ENSP00000323928:p.Asp71Glu						p.D71E	NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN			1	213	+	Esophageal squamous(21;0.00693)		71					Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.213C>A	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.923225	0.33908	.	.	ENSG00000181761	ENST00000313472	T	0.01152	5.26	3.44	0.353	0.16058	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000031	T	0.03053	0.0090	M	0.64170	1.965	0.09310	N	0.999997	D	0.54964	0.969	P	0.57324	0.818	T	0.26258	-1.0108	10	0.87932	D	0	.	7.8866	0.29653	0.0:0.4419:0.0:0.5581	.	71	Q8N146	OR8H3_HUMAN	E	71	ENSP00000323928:D71E	ENSP00000323928:D71E	D	+	3	2	OR8H3	55646637	0.000000	0.05858	0.994000	0.49952	0.245000	0.25701	-1.038000	0.03553	0.106000	0.17784	0.173000	0.16961	GAC		0.443	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		103	359	1	0	4.55152e-58	1	6.69723e-58	103	359				
IL2	3558	broad.mit.edu	37	4	123373006	123373006	+	Silent	SNP	T	T	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr4:123373006T>G	ENST00000226730.4	-	4	647	c.363A>C	c.(361-363)acA>acC	p.T121T		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	121					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|immune response (GO:0006955)|natural killer cell activation (GO:0030101)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of heart contraction (GO:0045822)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of T cell homeostatic proliferation (GO:0046013)|T cell differentiation (GO:0030217)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|cytokine activity (GO:0005125)|glycosphingolipid binding (GO:0043208)|growth factor activity (GO:0008083)|interleukin-2 receptor binding (GO:0005134)|kinase activator activity (GO:0019209)			endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)	Pseudoephedrine(DB00852)	ACATGAATGTTGTTTCAGATC	0.333			T	TNFRSF17	intestinal T-cell lymphoma																																	ENST00000226730.4				Dom	yes		4	4q26-q27	3558	T	interleukin 2			L	TNFRSF17		intestinal T-cell lymphoma		0				endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13						c.(361-363)acA>acC		interleukin 2							70.0	66.0	68.0					4																	123373006		2202	4300	6502	SO:0001819	synonymous_variant	3558				anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity	g.chr4:123373006T>G	U25676	CCDS3726.1	4q26-q27	2011-07-14			ENSG00000109471	ENSG00000109471		"""Interleukins and interleukin receptors"""	6001	protein-coding gene	gene with protein product	"""T cell growth factor"""	147680				3260003	Standard	NM_000586		Approved	IL-2, TCGF	uc003ier.3	P60568	OTTHUMG00000133075	ENST00000226730.4:c.363A>C	4.37:g.123373006T>G							p.T121T	NM_000586.3	NP_000577.2	P60568	IL2_HUMAN		LUSC - Lung squamous cell carcinoma(721;0.185)	4	647	-			121					P01585	Silent	SNP	ENST00000226730.4	37	c.363A>C	CCDS3726.1																																																																																				0.333	IL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256715.2			9	24	0	0	0	1	0	9	24				
PRR35	146325	broad.mit.edu	37	16	613930	613930	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr16:613930C>G	ENST00000409413.3	+	2	915	c.636C>G	c.(634-636)aaC>aaG	p.N212K		NM_145270.2	NP_660313.1	P0CG20	PRR35_HUMAN		212	Pro-rich.									central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						TGGGCGTCAACTACCCGCTCA	0.716																																						ENST00000409413.3																			0				central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(634-636)aaC>aaG		chromosome 16 open reading frame 11							13.0	16.0	15.0					16																	613930		1940	4116	6056	SO:0001583	missense	146325							g.chr16:613930C>G																												ENST00000409413.3:c.636C>G	16.37:g.613930C>G	ENSP00000386499:p.Asn212Lys						p.N212K	NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN			2	915	+			212			Pro-rich.		B8ZZ27|Q8N233|Q96AX3|Q96S23	Missense_Mutation	SNP	ENST00000409413.3	37	c.636C>G	CCDS45365.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.553930	0.45487	.	.	ENSG00000161992	ENST00000409413	T	0.09445	2.98	4.53	3.5	0.40072	.	0.000000	0.64402	D	0.000017	T	0.27697	0.0681	M	0.66939	2.045	0.34227	D	0.676063	D	0.89917	1.0	D	0.71870	0.975	T	0.33803	-0.9854	10	0.59425	D	0.04	.	12.0341	0.53415	0.0:0.9017:0.0:0.0983	.	212	P0CG20	CP011_HUMAN	K	212	ENSP00000386499:N212K	ENSP00000386499:N212K	N	+	3	2	C16orf11	553931	1.000000	0.71417	1.000000	0.80357	0.349000	0.29174	1.815000	0.38981	2.364000	0.80123	0.563000	0.77884	AAC		0.716	C16orf11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000333913.1			3	8	0	0	0	1	0	3	8				
CCNE1	898	broad.mit.edu	37	19	30314571	30314571	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr19:30314571C>T	ENST00000262643.3	+	12	1399	c.1120C>T	c.(1120-1122)Cga>Tga	p.R374*	CCNE1_ENST00000357943.5_Nonsense_Mutation_p.R331*|CCNE1_ENST00000444983.2_Nonsense_Mutation_p.R359*	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	374					androgen receptor signaling pathway (GO:0030521)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|Wnt signaling pathway (GO:0016055)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			GGACAAAGCCCGAGCAAAGAA	0.458			A		serous ovarian																																	ENST00000262643.3				Dom	yes		19	19q12	898	A	cyclin E1			E			serous ovarian		0				endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20						c.(1120-1122)Cga>Tga		cyclin E1							69.0	70.0	70.0					19																	30314571		2203	4300	6503	SO:0001587	stop_gained	898				androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity	g.chr19:30314571C>T	M73812	CCDS12419.1	19q12	2014-07-03			ENSG00000105173	ENSG00000105173			1589	protein-coding gene	gene with protein product	"""cyclin Es"", ""cyclin Et"""	123837		CCNE		1833066	Standard	NM_001238		Approved		uc002nsn.3	P24864	OTTHUMG00000177626	ENST00000262643.3:c.1120C>T	19.37:g.30314571C>T	ENSP00000262643:p.Arg374*					CCNE1_ENST00000444983.2_Nonsense_Mutation_p.R359*|CCNE1_ENST00000357943.5_Nonsense_Mutation_p.R331*	p.R374*	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)		12	1399	+	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		374					A8K684|Q14091|Q8NFG1|Q92501|Q9UD21	Nonsense_Mutation	SNP	ENST00000262643.3	37	c.1120C>T	CCDS12419.1	.	.	.	.	.	.	.	.	.	.	C	39	7.415357	0.98269	.	.	ENSG00000105173	ENST00000262643;ENST00000357943;ENST00000444983	.	.	.	5.98	3.53	0.40419	.	0.341644	0.35262	N	0.003339	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	11.5231	0.50562	0.1286:0.7973:0.0:0.0742	.	.	.	.	X	374;331;359	.	ENSP00000262643:R374X	R	+	1	2	CCNE1	35006411	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.165000	0.31822	1.533000	0.49186	-0.158000	0.13435	CGA		0.458	CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438138.1	NM_001238		4	194	0	0	0	1	0	4	194				
HERC2	8924	broad.mit.edu	37	15	28458989	28458989	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr15:28458989C>A	ENST00000261609.7	-	42	6793	c.6685G>T	c.(6685-6687)Gga>Tga	p.G2229*		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTGCCTTCTCCAAACTCATCG	0.572																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(6685-6687)Gga>Tga		HECT and RLD domain containing E3 ubiquitin protein ligase 2							112.0	104.0	107.0					15																	28458989		2203	4300	6503	SO:0001587	stop_gained	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28458989C>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.6685G>T	15.37:g.28458989C>A	ENSP00000261609:p.Gly2229*						p.G2229*	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	42	6793	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2229						Nonsense_Mutation	SNP	ENST00000261609.7	37	c.6685G>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	48	14.468878	0.99797	.	.	ENSG00000128731	ENST00000261609	.	.	.	5.31	5.31	0.75309	.	0.111999	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	19.1711	0.93578	0.0:1.0:0.0:0.0	.	.	.	.	X	2229	.	ENSP00000261609:G2229X	G	-	1	0	HERC2	26132584	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	7.312000	0.78968	2.774000	0.95407	0.484000	0.47621	GGA		0.572	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		26	26	1	0	1.2476e-16	1	1.59301e-16	26	26				
CROCCP2	84809	broad.mit.edu	37	1	16946437	16946437	+	lincRNA	SNP	C	C	T	rs2262202	byFrequency	TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:16946437C>T	ENST00000412962.1	-	0	1082				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCCTTCCGCCGGGCCAGCAG	0.672													.|||	800	0.159744	0.1067	0.1571	5008	,	,		61077	0.2659		0.1511	False		,,,				2504	0.1329					ENST00000412962.1																			0																																																			84809							g.chr1:16946437C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946437C>T														0	1082	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		6	15	0	0	0	1	0	6	15				
SSPO	23145	broad.mit.edu	37	7	149503054	149503054	+	RNA	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr7:149503054G>T	ENST00000378016.2	+	0	8558							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ATCCAGACACGTGGGCGCAGC	0.637																																						ENST00000378016.2																			0													SCO-spondin							50.0	57.0	54.0					7																	149503054		2107	4236	6343			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149503054G>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149503054G>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	8558	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.637	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				28	27	1	0	4.87955e-14	1	5.91287e-14	28	27				
EPB41L3	23136	broad.mit.edu	37	18	5397159	5397159	+	Silent	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr18:5397159G>T	ENST00000341928.2	-	18	3079	c.2739C>A	c.(2737-2739)gtC>gtA	p.V913V	EPB41L3_ENST00000542146.1_Silent_p.V218V|EPB41L3_ENST00000544123.1_Silent_p.V744V|EPB41L3_ENST00000427684.2_Silent_p.V210V|EPB41L3_ENST00000342933.3_Silent_p.V913V|EPB41L3_ENST00000540638.2_Silent_p.V691V|EPB41L3_ENST00000400111.3_Silent_p.V691V|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	913	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CCTGTTCCAGGACAGCTTTAG	0.542																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(2737-2739)gtC>gtA		erythrocyte membrane protein band 4.1-like 3							121.0	99.0	107.0					18																	5397159		2203	4300	6503	SO:0001819	synonymous_variant	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5397159G>T	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2739C>A	18.37:g.5397159G>T						EPB41L3_ENST00000427684.2_Silent_p.V210V|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Silent_p.V218V|EPB41L3_ENST00000342933.3_Silent_p.V913V|EPB41L3_ENST00000544123.1_Silent_p.V744V|EPB41L3_ENST00000400111.3_Silent_p.V691V|EPB41L3_ENST00000540638.2_Silent_p.V691V	p.V913V	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			18	3079	-			913			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	ENST00000341928.2	37	c.2739C>A	CCDS11838.1																																																																																				0.542	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		40	139	1	0	7.63091e-17	1	9.78403e-17	40	139				
COIL	8161	broad.mit.edu	37	17	55038183	55038183	+	Missense_Mutation	SNP	C	C	G	rs201582973		TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:55038183C>G	ENST00000240316.4	-	1	232	c.198G>C	c.(196-198)ttG>ttC	p.L66F		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	66						Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					CGGCGGGGGGCAAGAGCCCCC	0.697																																						ENST00000240316.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15						c.(196-198)ttG>ttC		coilin																																				SO:0001583	missense	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55038183C>G	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.198G>C	17.37:g.55038183C>G	ENSP00000240316:p.Leu66Phe						p.L66F	NM_004645.2	NP_004636.1	P38432	COIL_HUMAN			1	232	-	Breast(9;6.15e-08)		66					B2R931	Missense_Mutation	SNP	ENST00000240316.4	37	c.198G>C	CCDS11592.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280674	0.80692	.	.	ENSG00000121058	ENST00000240316	T	0.53640	0.61	4.32	2.16	0.27623	.	0.000000	0.64402	D	0.000001	T	0.63367	0.2505	M	0.74647	2.275	0.53688	D	0.999979	D	0.89917	1.0	D	0.87578	0.998	T	0.65434	-0.6169	10	0.87932	D	0	-7.22	8.381	0.32472	0.0:0.7562:0.1558:0.088	.	66	P38432	COIL_HUMAN	F	66	ENSP00000240316:L66F	ENSP00000240316:L66F	L	-	3	2	COIL	52393182	1.000000	0.71417	0.994000	0.49952	0.960000	0.62799	1.914000	0.39966	1.178000	0.42870	0.455000	0.32223	TTG		0.697	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1			9	8	0	0	0	1	0	9	8				
YPEL2	388403	broad.mit.edu	37	17	57466719	57466719	+	Splice_Site	SNP	A	A	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:57466719A>G	ENST00000312655.4	+	4	479		c.e4-1		YPEL2_ENST00000585166.1_Splice_Site|YPEL2_ENST00000581865.1_Splice_Site	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN	yippee-like 2 (Drosophila)							nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(3)	5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					GCCTCGACATAGAGTTAATGT	0.493																																					Melanoma(86;1113 1364 8518 42220 42625)	ENST00000312655.4																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.e4-1		yippee-like 2 (Drosophila)							73.0	61.0	65.0					17																	57466719		2203	4300	6503	SO:0001630	splice_region_variant	388403					nucleolus		g.chr17:57466719A>G	AF305195	CCDS32695.1	17q23	2004-02-20				ENSG00000175155			18326	protein-coding gene	gene with protein product		609723					Standard	NM_001005404		Approved	FKSG4	uc002ixm.1	Q96QA6		ENST00000312655.4:c.162-1A>G	17.37:g.57466719A>G						YPEL2_ENST00000581865.1_Splice_Site|YPEL2_ENST00000585166.1_Splice_Site		NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN			4	479	+	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)							A0PK16|A2RUG4|Q65ZA0|Q8N3W2	Splice_Site	SNP	ENST00000312655.4	37		CCDS32695.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.373392	0.82573	.	.	ENSG00000175155	ENST00000312655	.	.	.	6.01	6.01	0.97437	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7534	0.78005	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	YPEL2	54821501	1.000000	0.71417	0.990000	0.47175	0.962000	0.63368	9.339000	0.96797	2.313000	0.78055	0.456000	0.33151	.		0.493	YPEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446032.1	XM_371070	Intron	15	43	0	0	0	1	0	15	43				
GABRA1	2554	broad.mit.edu	37	5	161281186	161281186	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:161281186G>T	ENST00000428797.2	+	4	452	c.97G>T	c.(97-99)Gat>Tat	p.D33Y	GABRA1_ENST00000393943.4_Missense_Mutation_p.D33Y|GABRA1_ENST00000420560.1_Missense_Mutation_p.D33Y|GABRA1_ENST00000444819.1_Missense_Mutation_p.D33Y|GABRA1_ENST00000437025.2_Missense_Mutation_p.D33Y|GABRA1_ENST00000023897.6_Missense_Mutation_p.D33Y	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	33					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	GTCATTACAAGATGAACTTAA	0.383																																						ENST00000428797.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(97-99)Gat>Tat		gamma-aminobutyric acid (GABA) A receptor, alpha 1	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						99.0	102.0	101.0					5																	161281186		2203	4300	6503	SO:0001583	missense	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161281186G>T		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.97G>T	5.37:g.161281186G>T	ENSP00000393097:p.Asp33Tyr					GABRA1_ENST00000023897.6_Missense_Mutation_p.D33Y|GABRA1_ENST00000437025.2_Missense_Mutation_p.D33Y|GABRA1_ENST00000444819.1_Missense_Mutation_p.D33Y|GABRA1_ENST00000393943.4_Missense_Mutation_p.D33Y|GABRA1_ENST00000420560.1_Missense_Mutation_p.D33Y	p.D33Y	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	4	452	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	33					D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	c.97G>T	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364373	0.82463	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000521339;ENST00000420560;ENST00000522651;ENST00000444819;ENST00000519621	T;T;T;T;T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-0.79;-1.4;-0.82;-1.4;-0.56	5.51	5.51	0.81932	.	0.055040	0.64402	D	0.000001	D	0.83496	0.5267	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	D	0.85677	0.1298	10	0.72032	D	0.01	.	19.7945	0.96474	0.0:0.0:1.0:0.0	.	33	P14867	GBRA1_HUMAN	Y	33;33;33;33;39;33;33;33;33	ENSP00000023897:D33Y;ENSP00000393097:D33Y;ENSP00000377517:D33Y;ENSP00000415441:D33Y;ENSP00000430895:D39Y;ENSP00000408041:D33Y;ENSP00000430507:D33Y;ENSP00000414232:D33Y;ENSP00000430435:D33Y	ENSP00000023897:D33Y	D	+	1	0	GABRA1	161213764	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	7.329000	0.79170	2.746000	0.94184	0.591000	0.81541	GAT		0.383	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		9	58	1	0	0.000442599	1	0.000457402	9	58				
NAALADL2	254827	broad.mit.edu	37	3	175189479	175189479	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:175189479G>A	ENST00000454872.1	+	9	1714	c.1586G>A	c.(1585-1587)aGt>aAt	p.S529N	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	529						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AGCCTCCACAGTCCCATAAGG	0.358																																						ENST00000454872.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49						c.(1585-1587)aGt>aAt		N-acetylated alpha-linked acidic dipeptidase-like 2							81.0	71.0	74.0					3																	175189479		1830	4088	5918	SO:0001583	missense	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:175189479G>A		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.1586G>A	3.37:g.175189479G>A	ENSP00000404705:p.Ser529Asn					NAALADL2_ENST00000473253.1_3'UTR	p.S529N	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	9	1714	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	529					Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	c.1586G>A	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	G	7.440	0.640570	0.14386	.	.	ENSG00000177694	ENST00000454872	T	0.50813	0.73	5.36	1.93	0.25924	Peptidase M28 (1);	0.431381	0.26915	N	0.021850	T	0.25754	0.0627	N	0.17674	0.51	0.21822	N	0.999525	B	0.09022	0.002	B	0.12156	0.007	T	0.13683	-1.0500	10	0.16420	T	0.52	-4.5304	5.8856	0.18880	0.6394:0.0:0.3606:0.0	.	529	Q58DX5	NADL2_HUMAN	N	529	ENSP00000404705:S529N	ENSP00000404705:S529N	S	+	2	0	NAALADL2	176672173	1.000000	0.71417	0.959000	0.39883	0.050000	0.14768	1.500000	0.35682	0.672000	0.31204	0.460000	0.39030	AGT		0.358	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		11	36	0	0	0	1	0	11	36				
KCNB2	9312	broad.mit.edu	37	8	73849153	73849153	+	Silent	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:73849153C>T	ENST00000523207.1	+	3	2151	c.1563C>T	c.(1561-1563)caC>caT	p.H521H		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	521					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AAGACTCCCACGAGCAGCTGA	0.517																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(1561-1563)caC>caT		potassium voltage-gated channel, Shab-related subfamily, member 2							119.0	120.0	120.0					8																	73849153		2203	4300	6503	SO:0001819	synonymous_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849153C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1563C>T	8.37:g.73849153C>T							p.H521H	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2151	+	Breast(64;0.137)		521					Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	c.1563C>T	CCDS6209.1																																																																																				0.517	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		41	84	0	0	0	1	0	41	84				
SH3TC2	79628	broad.mit.edu	37	5	148407034	148407034	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:148407034C>A	ENST00000515425.1	-	11	2362	c.2261G>T	c.(2260-2262)aGc>aTc	p.S754I	SH3TC2_ENST00000538184.1_Missense_Mutation_p.S301I|SH3TC2_ENST00000512049.1_Missense_Mutation_p.S747I|SH3TC2_ENST00000513340.1_5'Flank|SH3TC2_ENST00000394358.2_Missense_Mutation_p.S639I	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	754					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCTGGGTGCTCCGGTCTGC	0.607																																						ENST00000538184.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(901-903)aGc>aTc		SH3 domain and tetratricopeptide repeats 2							49.0	55.0	53.0					5																	148407034		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148407034C>A	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.2261G>T	5.37:g.148407034C>A	ENSP00000423660:p.Ser754Ile					SH3TC2_ENST00000515425.1_Missense_Mutation_p.S754I|SH3TC2_ENST00000512049.1_Missense_Mutation_p.S747I|SH3TC2_ENST00000394358.2_Missense_Mutation_p.S639I	p.S301I			Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1790	-			754			SH3.		B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.902G>T	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	C	9.529	1.110300	0.20714	.	.	ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049;ENST00000394358	T;T;T;T	0.75821	-0.8;-0.97;-0.97;-0.8	6.16	3.36	0.38483	Tetratricopeptide-like helical (1);	0.510602	0.23646	N	0.045971	T	0.59851	0.2224	L	0.44542	1.39	0.20403	N	0.999903	P;P;P;P	0.40266	0.698;0.71;0.71;0.71	B;B;B;B	0.38803	0.201;0.193;0.282;0.193	T	0.52366	-0.8585	10	0.34782	T	0.22	-0.6216	2.0311	0.03529	0.1222:0.4738:0.1762:0.2279	.	639;747;754;754	C9JLC3;Q14CC0;E9PDF1;Q8TF17	.;.;.;S3TC2_HUMAN	I	301;754;747;639	ENSP00000441427:S301I;ENSP00000423660:S754I;ENSP00000421860:S747I;ENSP00000377886:S639I	ENSP00000377886:S639I	S	-	2	0	SH3TC2	148387227	0.742000	0.28228	0.765000	0.31456	0.915000	0.54546	0.792000	0.26929	0.431000	0.26258	0.650000	0.86243	AGC		0.607	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		19	47	1	0	5.35267e-07	1	5.92822e-07	19	47				
NCOR2	9612	broad.mit.edu	37	12	124915248	124915248	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr12:124915248C>T	ENST00000405201.1	-	9	968	c.968G>A	c.(967-969)cGg>cAg	p.R323Q	NCOR2_ENST00000397355.1_Missense_Mutation_p.R323Q|NCOR2_ENST00000404621.1_Missense_Mutation_p.R323Q|NCOR2_ENST00000429285.2_Missense_Mutation_p.R323Q|NCOR2_ENST00000356219.3_Missense_Mutation_p.R323Q|NCOR2_ENST00000404121.2_5'UTR			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	323					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CTCCTTGGCCCGCCGCCGGGG	0.642																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(967-969)cGg>cAg		nuclear receptor corepressor 2							93.0	104.0	101.0					12																	124915248		2058	4196	6254	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124915248C>T	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.968G>A	12.37:g.124915248C>T	ENSP00000384018:p.Arg323Gln					NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000397355.1_Missense_Mutation_p.R323Q|NCOR2_ENST00000404621.1_Missense_Mutation_p.R323Q|NCOR2_ENST00000405201.1_Missense_Mutation_p.R323Q|NCOR2_ENST00000429285.2_Missense_Mutation_p.R323Q	p.R323Q	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	10	1123	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		323					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.968G>A	CCDS41858.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.88|15.88	2.962469|2.962469	0.53400|0.53400	.|.	.|.	ENSG00000196498|ENSG00000196498	ENST00000542927|ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000429285;ENST00000458234;ENST00000420698;ENST00000448008	.|T;T;T;T;T;T;T;T	.|0.35421	.|1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31	3.75|3.75	3.75|3.75	0.43078|0.43078	.|.	.|0.075719	.|0.48767	.|D	.|0.000165	T|T	0.46927|0.46927	0.1418|0.1418	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.998;0.998;0.999	.|P;P;D	.|0.64237	.|0.84;0.84;0.923	T|T	0.53078|0.53078	-0.8489|-0.8489	5|10	.|0.72032	.|D	.|0.01	-26.5943|-26.5943	16.1322|16.1322	0.81449|0.81449	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|323;323;323	.|C9J0Q5;C9J239;C9JFD3	.|.;.;.	R|Q	246|323;323;323;323;323;323;323;323;225	.|ENSP00000384018:R323Q;ENSP00000384202:R323Q;ENSP00000348551:R323Q;ENSP00000380513:R323Q;ENSP00000400281:R323Q;ENSP00000402808:R323Q;ENSP00000405367:R323Q;ENSP00000403034:R225Q	.|ENSP00000348551:R323Q	G|R	-|-	1|2	0|0	NCOR2|NCOR2	123481201|123481201	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.991000|0.991000	0.79684|0.79684	4.799000|4.799000	0.62517|0.62517	2.104000|2.104000	0.64026|0.64026	0.462000|0.462000	0.41574|0.41574	GGG|CGG		0.642	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		23	171	0	0	0	1	0	23	171				
ANKRD26	22852	broad.mit.edu	37	10	27349299	27349299	+	Missense_Mutation	SNP	C	C	T	rs565311134		TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr10:27349299C>T	ENST00000376087.4	-	15	1704	c.1539G>A	c.(1537-1539)atG>atA	p.M513I	ANKRD26_ENST00000436985.2_Missense_Mutation_p.M529I	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	513					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GTACATCCTTCATTCCTCCTG	0.289																																						ENST00000376087.4																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(1537-1539)atG>atA		ankyrin repeat domain 26							105.0	103.0	104.0					10																	27349299		1812	4070	5882	SO:0001583	missense	22852					centrosome		g.chr10:27349299C>T	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.1539G>A	10.37:g.27349299C>T	ENSP00000365255:p.Met513Ile					ANKRD26_ENST00000436985.2_Missense_Mutation_p.M529I	p.M513I	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			15	1704	-			513					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.1539G>A	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433107	0.25813	.	.	ENSG00000107890	ENST00000376087;ENST00000436985	T;T	0.29655	1.56;1.7	4.89	1.51	0.23008	.	1.741500	0.04378	N	0.360229	T	0.32102	0.0818	M	0.62723	1.935	0.09310	N	1	B;B;B	0.16166	0.001;0.001;0.016	B;B;B	0.12156	0.002;0.001;0.007	T	0.31447	-0.9943	10	0.59425	D	0.04	.	5.1436	0.14973	0.0:0.5466:0.0:0.4534	.	513;513;529	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	I	513;529	ENSP00000365255:M513I;ENSP00000405112:M529I	ENSP00000365255:M513I	M	-	3	0	ANKRD26	27389305	0.000000	0.05858	0.001000	0.08648	0.382000	0.30200	-0.991000	0.03728	0.466000	0.27193	0.313000	0.20887	ATG		0.289	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			30	83	0	0	0	1	0	30	83				
TBC1D12	23232	broad.mit.edu	37	10	96256890	96256890	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr10:96256890T>C	ENST00000225235.4	+	5	1483	c.1373T>C	c.(1372-1374)gTa>gCa	p.V458A		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	458							Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				AGTGCAATGGTAATTTGGATC	0.313																																						ENST00000225235.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20						c.(1372-1374)gTa>gCa		TBC1 domain family, member 12							78.0	74.0	75.0					10																	96256890		1828	4077	5905	SO:0001583	missense	23232					intracellular	Rab GTPase activator activity	g.chr10:96256890T>C	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.1373T>C	10.37:g.96256890T>C	ENSP00000225235:p.Val458Ala						p.V458A	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN			5	1483	+		Colorectal(252;0.0429)	458					Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Missense_Mutation	SNP	ENST00000225235.4	37	c.1373T>C	CCDS41553.1	.	.	.	.	.	.	.	.	.	.	T	11.93	1.786945	0.31593	.	.	ENSG00000108239	ENST00000225235	T	0.55760	0.5	4.95	4.95	0.65309	Rab-GAP/TBC domain (1);	0.000000	0.85682	D	0.000000	T	0.41073	0.1143	L	0.40543	1.245	0.45733	D	0.998635	B	0.22414	0.069	B	0.24394	0.053	T	0.22765	-1.0207	10	0.08599	T	0.76	-15.0094	12.8217	0.57696	0.0:0.0:0.0:1.0	.	458	O60347	TBC12_HUMAN	A	458	ENSP00000225235:V458A	ENSP00000225235:V458A	V	+	2	0	TBC1D12	96246880	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.059000	0.57470	1.973000	0.57446	0.482000	0.46254	GTA		0.313	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			18	37	0	0	0	1	0	18	37				
SLC26A6	65010	broad.mit.edu	37	3	48670725	48670725	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:48670725A>T	ENST00000395550.2	-	3	328	c.281T>A	c.(280-282)cTg>cAg	p.L94Q	SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000455886.2_Missense_Mutation_p.L94Q|SLC26A6_ENST00000383733.3_Missense_Mutation_p.L94Q|SLC26A6_ENST00000358747.6_Missense_Mutation_p.L73Q|SLC26A6_ENST00000420764.2_Missense_Mutation_p.L94Q|SLC26A6_ENST00000337000.8_Missense_Mutation_p.L94Q			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	94					angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)		SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GCCGGATAACAGGTCACCCAG	0.612																																					NSCLC(13;369 479 28271 30152 44026)	ENST00000358747.6																		SLC26A6/PRKAR2A(2)	0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19						c.(217-219)cTg>cAg		solute carrier family 26 (anion exchanger), member 6							39.0	47.0	44.0					3																	48670725		2067	4200	6267	SO:0001583	missense	65010							g.chr3:48670725A>T	AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"""Solute carriers"""	14472	protein-coding gene	gene with protein product	"""pendrin-like protein 1"", ""pendrin L1"", ""sulfate anion transporter"", ""anion transporter 1"""	610068	"""solute carrier family 26, member 6"""			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.281T>A	3.37:g.48670725A>T	ENSP00000378920:p.Leu94Gln					SLC26A6_ENST00000455886.2_Missense_Mutation_p.L94Q|SLC26A6_ENST00000337000.8_Missense_Mutation_p.L94Q|SLC26A6_ENST00000420764.2_Missense_Mutation_p.L94Q|SLC26A6_ENST00000395550.2_Missense_Mutation_p.L94Q|SLC26A6_ENST00000383733.3_Missense_Mutation_p.L94Q|SLC26A6_ENST00000482282.1_5'UTR	p.L73Q	NM_001040454.1	NP_001035544.1				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)	2	468	-								B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Missense_Mutation	SNP	ENST00000395550.2	37	c.218T>A	CCDS43087.1	.	.	.	.	.	.	.	.	.	.	A	17.26	3.344034	0.61073	.	.	ENSG00000225697	ENST00000420764;ENST00000395550;ENST00000383733;ENST00000337000;ENST00000447978;ENST00000358747;ENST00000455886;ENST00000431739;ENST00000426599	D;D;D;D;D;D;D;D	0.94613	-3.18;-3.18;-3.18;-3.47;-3.18;-3.18;-3.18;-3.18	5.02	5.02	0.67125	.	.	.	.	.	D	0.98068	0.9363	H	0.95079	3.62	0.29223	N	0.87383	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;0.975	D;D;D;D;D;D	0.78314	0.977;0.944;0.967;0.991;0.991;0.916	D	0.94964	0.8111	9	0.87932	D	0	.	14.9128	0.70770	1.0:0.0:0.0:0.0	.	94;94;94;94;94;3488	B4DMZ1;G3XAC1;Q9BXS9-2;Q548A7;Q9BXS9;Q5Y190	.;.;.;.;S26A6_HUMAN;.	Q	94;94;94;94;94;73;94;94;94	ENSP00000404684:L94Q;ENSP00000378920:L94Q;ENSP00000373239:L94Q;ENSP00000337648:L94Q;ENSP00000351597:L73Q;ENSP00000401066:L94Q;ENSP00000401813:L94Q;ENSP00000405872:L94Q	ENSP00000307089:L94Q	L	-	2	0	SLC26A6	48645729	1.000000	0.71417	0.329000	0.25429	0.111000	0.19643	6.969000	0.76092	2.111000	0.64477	0.533000	0.62120	CTG		0.612	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1	NM_022911		17	16	0	0	0	1	0	17	16				
PGBD2	267002	broad.mit.edu	37	1	249210841	249210841	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:249210841T>A	ENST00000329291.5	+	3	205	c.58T>A	c.(58-60)Tct>Act	p.S20T	PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000539153.1_Missense_Mutation_p.S17T	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	20										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AAAGGTGAAGTCTGCAAAGCT	0.493																																						ENST00000539153.1																			0				NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14						c.(49-51)Tct>Act		piggyBac transposable element derived 2							79.0	77.0	78.0					1																	249210841		2203	4300	6503	SO:0001583	missense	267002							g.chr1:249210841T>A	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.58T>A	1.37:g.249210841T>A	ENSP00000331643:p.Ser20Thr					PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000329291.5_Missense_Mutation_p.S20T|PGBD2_ENST00000462488.1_Intron	p.S17T			Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		4	304	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	20					B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	c.49T>A	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	T	0.049	-1.255426	0.01457	.	.	ENSG00000185220	ENST00000329291;ENST00000539153	T;T	0.12039	2.72;2.72	4.08	-3.31	0.04988	.	0.253182	0.20721	U	0.086920	T	0.04952	0.0133	N	0.20530	0.585	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.41787	-0.9489	10	0.02654	T	1	-2.8672	5.4955	0.16799	0.0:0.1904:0.4741:0.3354	.	17;20	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	T	20;17	ENSP00000331643:S20T;ENSP00000439950:S17T	ENSP00000331643:S20T	S	+	1	0	PGBD2	247177464	0.076000	0.21285	0.001000	0.08648	0.020000	0.10135	0.789000	0.26886	-0.759000	0.04684	-1.219000	0.01604	TCT		0.493	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			14	50	0	0	0	1	0	14	50				
ZNF782	158431	broad.mit.edu	37	9	99581054	99581054	+	Silent	SNP	C	C	T	rs193008139	byFrequency	TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:99581054C>T	ENST00000481138.1	-	6	1912	c.1251G>A	c.(1249-1251)acG>acA	p.T417T	ZNF782_ENST00000535338.1_Silent_p.T285T|ZNF782_ENST00000466833.1_5'Flank	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	417					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				GTTTCTCTCCCGTGTGAGTTC	0.468													C|||	5	0.000998403	0.0023	0.0	5008	,	,		20559	0.0		0.0	False		,,,				2504	0.002					ENST00000481138.1																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33						c.(1249-1251)acG>acA		zinc finger protein 782							127.0	125.0	126.0					9																	99581054		2203	4300	6503	SO:0001819	synonymous_variant	158431				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99581054C>T	AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.1251G>A	9.37:g.99581054C>T						ZNF782_ENST00000535338.1_Silent_p.T285T	p.T417T	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN			6	1912	-		Acute lymphoblastic leukemia(62;0.0527)	417					B2RNR0	Silent	SNP	ENST00000481138.1	37	c.1251G>A	CCDS35075.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	7.307	0.614203	0.14129	.	.	ENSG00000196597	ENST00000289032	.	.	.	3.16	0.337	0.15966	.	.	.	.	.	T	0.34250	0.0891	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.17715	-1.0360	4	.	.	.	.	2.2043	0.03932	0.2996:0.2552:0.0:0.4452	.	.	.	.	R	406	.	.	G	-	1	0	ZNF782	98620875	0.001000	0.12720	0.970000	0.41538	0.983000	0.72400	-2.560000	0.00921	0.050000	0.15949	-0.238000	0.12139	GGG		0.468	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662		4	131	0	0	0	1	0	4	131				
LBX1	10660	broad.mit.edu	37	10	102988516	102988516	+	Silent	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr10:102988516C>T	ENST00000370193.2	-	1	1035	c.57G>A	c.(55-57)ccG>ccA	p.P19P	LBX1-AS1_ENST00000547077.1_RNA|LBX1-AS1_ENST00000546988.1_RNA	NM_006562.4	NP_006553.2	P52954	LBX1_HUMAN	ladybird homeobox 1	19					anatomical structure morphogenesis (GO:0009653)|heart looping (GO:0001947)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neuron fate determination (GO:0048664)|regulation of transcription from RNA polymerase II promoter involved in spinal cord association neuron specification (GO:0021920)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(4)|ovary(1)	7		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		GGTGGTCCAGCGGGCTGCGCC	0.697																																						ENST00000370193.2																			0				large_intestine(2)|lung(4)|ovary(1)	7						c.(55-57)ccG>ccA		ladybird homeobox 1																																				SO:0001819	synonymous_variant	10660				muscle organ development		sequence-specific DNA binding	g.chr10:102988516C>T	X90828	CCDS31270.1	10q24.32	2011-06-20	2007-02-15		ENSG00000138136	ENSG00000138136		"""Homeoboxes / ANTP class : NKL subclass"""	16960	protein-coding gene	gene with protein product		604255	"""ladybird homeobox homolog 1 (Drosophila)"""			8645601	Standard	XM_005269443		Approved	LBX1H, HPX6	uc001ksx.3	P52954	OTTHUMG00000018927	ENST00000370193.2:c.57G>A	10.37:g.102988516C>T							p.P19P	NM_006562.4	NP_006553.2	P52954	LBX1_HUMAN		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)	1	1035	-		Colorectal(252;0.234)	19					B9EGA2|Q05BB2	Silent	SNP	ENST00000370193.2	37	c.57G>A	CCDS31270.1																																																																																				0.697	LBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049928.3	NM_006562		16	22	0	0	0	1	0	16	22				
ABCB5	340273	broad.mit.edu	37	7	20766712	20766712	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr7:20766712G>T	ENST00000404938.2	+	22	3327	c.2675G>T	c.(2674-2676)aGg>aTg	p.R892M	ABCB5_ENST00000258738.6_Missense_Mutation_p.R447M	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	892	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TCATTAACAAGGGAAAAAGCC	0.308																																						ENST00000404938.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(2674-2676)aGg>aTg		ATP-binding cassette, sub-family B (MDR/TAP), member 5							106.0	112.0	110.0					7																	20766712		2203	4300	6503	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20766712G>T	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2675G>T	7.37:g.20766712G>T	ENSP00000384881:p.Arg892Met					ABCB5_ENST00000258738.6_Missense_Mutation_p.R447M	p.R892M	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			22	3327	+			447					A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.2675G>T	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.251622	0.59212	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.90385	-2.66;-2.66	4.3	3.42	0.39159	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.081236	0.49305	D	0.000156	D	0.94833	0.8331	M	0.85197	2.74	0.45621	D	0.998552	P;D;D	0.89917	0.948;1.0;0.998	P;D;D	0.87578	0.877;0.998;0.977	D	0.94709	0.7890	10	0.66056	D	0.02	.	10.5318	0.44981	0.0963:0.0:0.9037:0.0	.	892;70;447	A7BKA4;A0ASV4;Q2M3G0	.;.;ABCB5_HUMAN	M	892;447	ENSP00000384881:R892M;ENSP00000258738:R447M	ENSP00000258738:R447M	R	+	2	0	ABCB5	20733237	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.433000	0.52834	1.408000	0.46895	0.563000	0.77884	AGG		0.308	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		15	71	1	0	7.93312e-07	1	8.72361e-07	15	71				
ZNF816	125893	broad.mit.edu	37	19	53454527	53454527	+	Silent	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr19:53454527G>T	ENST00000357666.4	-	5	801	c.501C>A	c.(499-501)ctC>ctA	p.L167L	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Silent_p.L167L|ZNF816_ENST00000434371.2_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	167					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						GAAACATGTGGAGTTCAGGCA	0.418																																						ENST00000357666.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						c.(499-501)ctC>ctA		zinc finger protein 816							149.0	159.0	156.0					19																	53454527		2203	4300	6503	SO:0001819	synonymous_variant	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53454527G>T	BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.501C>A	19.37:g.53454527G>T						ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Silent_p.L167L|ZNF321P_ENST00000391777.3_Intron	p.L167L	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN			5	801	-			167					A8K7H5|Q3KR39|Q659B3	Silent	SNP	ENST00000357666.4	37	c.501C>A	CCDS33096.1																																																																																				0.418	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665		150	101	1	0	8.75221e-57	1	1.28172e-56	150	101				
LILRA3	11026	broad.mit.edu	37	19	54803700	54803700	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr19:54803700C>A	ENST00000251390.3	-	3	215	c.124G>T	c.(124-126)Ggg>Tgg	p.G42W	LILRA3_ENST00000391744.3_Missense_Mutation_p.G42W|LILRA3_ENST00000391745.1_Missense_Mutation_p.G59W	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	42	Ig-like C2-type 1.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACAGGACTCCCTTGGGTGATC	0.542																																						ENST00000391745.1																			0				NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(175-177)Ggg>Tgg		leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3							74.0	68.0	70.0					19																	54803700		2195	4152	6347	SO:0001583	missense	11026							g.chr19:54803700C>A	U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.124G>T	19.37:g.54803700C>A	ENSP00000251390:p.Gly42Trp					LILRA3_ENST00000391744.3_Missense_Mutation_p.G42W|LILRA3_ENST00000251390.3_Missense_Mutation_p.G42W	p.G59W						GBM - Glioblastoma multiforme(193;0.105)	7	491	-	Ovarian(34;0.19)							J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	c.175G>T	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999027	0.35226	.	.	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.01527	4.8;4.8;4.8	2.5	2.5	0.30297	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.122077	0.36972	N	0.002317	T	0.11024	0.0269	M	0.91354	3.2	0.09310	N	1	D;D	0.89917	0.974;1.0	D;D	0.91635	0.963;0.999	T	0.01739	-1.1284	10	0.56958	D	0.05	.	8.5768	0.33603	0.0:1.0:0.0:0.0	.	42;42	E7EU74;Q8N6C8	.;LIRA3_HUMAN	W	42;42;59	ENSP00000251390:G42W;ENSP00000375624:G42W;ENSP00000375625:G59W	ENSP00000251390:G42W	G	-	1	0	LILRA3	59495512	0.003000	0.15002	0.001000	0.08648	0.008000	0.06430	1.442000	0.35046	1.452000	0.47756	0.485000	0.47835	GGG		0.542	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			80	48	1	0	1.91593e-42	1	2.75359e-42	80	48				
TRAV8-1	28685	broad.mit.edu	37	14	22265633	22265633	+	RNA	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr14:22265633C>A	ENST00000390430.2	+	0	175									T cell receptor alpha variable 8-1																		GATTTTTGCCCTGAGTGAGTA	0.438																																						ENST00000390430.2																			0																				95.0	94.0	94.0					14																	22265633		1902	4125	6027			28685							g.chr14:22265633C>A	AE000659		14q11.2	2012-02-07			ENSG00000211782	ENSG00000211782		"""T cell receptors / TRA locus"""	12146	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000168986		14.37:g.22265633C>A														0	175	+									RNA	SNP	ENST00000390430.2	37																																																																																						0.438	TRAV8-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401884.1	NG_001332		8	36	1	0	3.09899e-07	1	3.45699e-07	8	36				
OR4C3	256144	broad.mit.edu	37	11	48346829	48346829	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:48346829G>T	ENST00000319856.4	+	1	358	c.337G>T	c.(337-339)Gag>Tag	p.E113*		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CTCATTGTATGAGGGGAGAAC	0.443																																						ENST00000319856.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						c.(337-339)Gag>Tag		olfactory receptor, family 4, subfamily C, member 3							237.0	224.0	228.0					11																	48346829		2201	4298	6499	SO:0001587	stop_gained	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48346829G>T	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.337G>T	11.37:g.48346829G>T	ENSP00000321419:p.Glu113*						p.E113*	NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN			1	358	+			86					B2RNF2|Q6IFB3	Nonsense_Mutation	SNP	ENST00000319856.4	37	c.337G>T	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.173477	0.38413	.	.	ENSG00000176547	ENST00000319856	.	.	.	5.78	4.86	0.63082	.	0.135558	0.34531	N	0.003899	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	9.4368	0.38643	0.1608:0.0:0.8392:0.0	.	.	.	.	X	113	.	ENSP00000321419:E113X	E	+	1	0	OR4C3	48303405	0.000000	0.05858	0.937000	0.37676	0.398000	0.30690	0.210000	0.17455	2.782000	0.95742	0.478000	0.44815	GAG		0.443	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		34	324	1	0	8.18108e-13	1	9.79827e-13	34	324				
C10orf90	118611	broad.mit.edu	37	10	128192872	128192872	+	Missense_Mutation	SNP	G	G	T	rs373996401		TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr10:128192872G>T	ENST00000284694.7	-	3	1017	c.897C>A	c.(895-897)caC>caA	p.H299Q	C10orf90_ENST00000356858.3_Missense_Mutation_p.H252Q|C10orf90_ENST00000544758.1_Missense_Mutation_p.H396Q|C10orf90_ENST00000392694.1_Missense_Mutation_p.H252Q|C10orf90_ENST00000454341.1_Missense_Mutation_p.H299Q|C10orf90_ENST00000368674.1_5'UTR	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	299					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CTGTTAATCTGTGGGAACTAC	0.537											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000284694.7																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(895-897)caC>caA		chromosome 10 open reading frame 90							137.0	138.0	137.0					10																	128192872		2203	4300	6503	SO:0001583	missense	118611							g.chr10:128192872G>T	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.897C>A	10.37:g.128192872G>T	ENSP00000284694:p.His299Gln		OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1563	C10orf90_ENST00000356858.3_Missense_Mutation_p.H252Q|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000544758.1_Missense_Mutation_p.H396Q|C10orf90_ENST00000454341.1_Missense_Mutation_p.H299Q|C10orf90_ENST00000392694.1_Missense_Mutation_p.H252Q	p.H299Q	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	3	1017	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	299					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	c.897C>A	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.597068	0.46318	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.28454	1.89;1.89;1.94;1.9;1.61	5.38	2.35	0.29111	.	0.104805	0.43110	D	0.000616	T	0.46718	0.1407	M	0.63843	1.955	0.09310	N	0.999996	D;D;D;D;D	0.76494	0.999;0.998;0.999;0.999;0.998	D;D;D;D;D	0.70016	0.948;0.948;0.967;0.962;0.962	T	0.20505	-1.0273	10	0.72032	D	0.01	-28.1498	8.8007	0.34907	0.2649:0.0:0.7351:0.0	.	396;396;252;299;299	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	Q	252;299;299;396;299;252;252	ENSP00000284694:H299Q;ENSP00000398786:H299Q;ENSP00000444369:H396Q;ENSP00000405995:H299Q;ENSP00000376459:H252Q	ENSP00000284694:H299Q	H	-	3	2	C10orf90	128182862	0.016000	0.18221	0.650000	0.29550	0.540000	0.34992	0.048000	0.14078	0.841000	0.35020	-0.136000	0.14681	CAC		0.537	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		4	154	1	0	1	1	1	4	154				
OR4C6	219432	broad.mit.edu	37	11	55433374	55433374	+	Silent	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:55433374G>T	ENST00000314259.3	+	1	761	c.732G>T	c.(730-732)gtG>gtT	p.V244V		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ACCTCACGGTGGTTGTATTGT	0.502																																						ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(730-732)gtG>gtT		olfactory receptor, family 4, subfamily C, member 6							118.0	117.0	118.0					11																	55433374		2200	4296	6496	SO:0001819	synonymous_variant	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433374G>T	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.732G>T	11.37:g.55433374G>T							p.V244V	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	761	+			244					B2RP11|Q6IFD2	Silent	SNP	ENST00000314259.3	37	c.732G>T	CCDS31506.1																																																																																				0.502	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		38	98	1	0	9.80977e-26	1	1.33534e-25	38	98				
MORC2	22880	broad.mit.edu	37	22	31324138	31324138	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr22:31324138C>G	ENST00000397641.3	-	25	3306	c.2898G>C	c.(2896-2898)caG>caC	p.Q966H	MORC2_ENST00000215862.4_Missense_Mutation_p.Q904H|MORC2-AS1_ENST00000609557.1_RNA|MORC2-AS1_ENST00000432624.2_RNA|MORC2-AS1_ENST00000422995.2_RNA|MORC2-AS1_ENST00000441558.1_RNA			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	966						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CAGCACGGCTCTGGTAGGAAT	0.572																																						ENST00000215862.4																			0				breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						c.(2710-2712)caG>caC		MORC family CW-type zinc finger 2							81.0	74.0	76.0					22																	31324138		2203	4300	6503	SO:0001583	missense	22880						ATP binding|zinc ion binding	g.chr22:31324138C>G	AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.2898G>C	22.37:g.31324138C>G	ENSP00000380763:p.Gln966His					MORC2_ENST00000397641.2_Missense_Mutation_p.Q966H|MORC2-AS1_ENST00000441558.1_RNA	p.Q904H	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN			26	4075	-			966					B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	ENST00000397641.3	37	c.2712G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.960616|3.960616	0.74016|0.74016	.|.	.|.	ENSG00000133422|ENSG00000133422	ENST00000445980|ENST00000397641;ENST00000429468;ENST00000215862	.|T;T	.|0.14766	.|2.49;2.48	5.35|5.35	1.9|1.9	0.25705|0.25705	.|.	.|0.055895	.|0.64402	.|D	.|0.000001	T|T	0.12987|0.12987	0.0315|0.0315	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|P	.|0.47409	.|0.895	.|P	.|0.47673	.|0.554	T|T	0.02450|0.02450	-1.1157|-1.1157	5|10	.|0.66056	.|D	.|0.02	.|.	10.7058|10.7058	0.45954|0.45954	0.0:0.7938:0.0:0.2062|0.0:0.7938:0.0:0.2062	.|.	.|966	.|Q9Y6X9	.|MORC2_HUMAN	Q|H	128|966;26;904	.|ENSP00000380763:Q966H;ENSP00000215862:Q904H	.|ENSP00000215862:Q904H	E|Q	-|-	1|3	0|2	MORC2|MORC2	29654138|29654138	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.862000|0.862000	0.49288|0.49288	2.515000|2.515000	0.45512|0.45512	0.174000|0.174000	0.19809|0.19809	-0.367000|-0.367000	0.07326|0.07326	GAG|CAG		0.572	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941		16	50	0	0	0	1	0	16	50				
C6orf10	10665	broad.mit.edu	37	6	32337688	32337688	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr6:32337688C>A	ENST00000447241.2	-	2	258	c.86G>T	c.(85-87)cGa>cTa	p.R29L	C6orf10_ENST00000375015.4_Missense_Mutation_p.R29L|C6orf10_ENST00000533191.1_Missense_Mutation_p.R29L|C6orf10_ENST00000442822.2_Missense_Mutation_p.R29L|C6orf10_ENST00000527965.1_Missense_Mutation_p.R29L|C6orf10_ENST00000375007.4_Missense_Mutation_p.R29L	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	29						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						TTGCTTACATCGTGCCCATCT	0.418																																						ENST00000375015.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						c.(85-87)cGa>cTa		chromosome 6 open reading frame 10							207.0	220.0	215.0					6																	32337688		1511	2708	4219	SO:0001583	missense	10665					integral to membrane		g.chr6:32337688C>A	U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"""testis specific basic protein"""					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.86G>T	6.37:g.32337688C>A	ENSP00000415517:p.Arg29Leu					C6orf10_ENST00000447241.2_Missense_Mutation_p.R29L|C6orf10_ENST00000527965.1_Missense_Mutation_p.R29L|C6orf10_ENST00000533191.1_Missense_Mutation_p.R29L|C6orf10_ENST00000442822.2_Missense_Mutation_p.R29L|C6orf10_ENST00000375007.4_Missense_Mutation_p.R29L	p.R29L			Q5SRN2	CF010_HUMAN			2	286	-			29					A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Missense_Mutation	SNP	ENST00000447241.2	37	c.86G>T	CCDS34422.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.846821	0.32606	.	.	ENSG00000204296	ENST00000442822;ENST00000447241;ENST00000375015;ENST00000533191;ENST00000527965;ENST00000375007;ENST00000375002;ENST00000305725;ENST00000532023;ENST00000534588	T;T;T;T;T;T;T;T	0.06608	3.28;3.28;3.28;3.28;3.28;3.28;3.28;3.28	4.57	2.78	0.32641	.	.	.	.	.	T	0.08626	0.0214	L	0.58101	1.795	0.20975	N	0.999814	D;D	0.76494	0.992;0.999	P;D	0.70935	0.846;0.971	T	0.15321	-1.0441	9	0.87932	D	0	-20.4789	6.5347	0.22346	0.0:0.7856:0.0:0.2144	.	29;29	E9PMB1;Q5SRN2	.;CF010_HUMAN	L	29;29;29;29;29;29;29;28;29;29	ENSP00000411164:R29L;ENSP00000415517:R29L;ENSP00000364155:R29L;ENSP00000431199:R29L;ENSP00000435103:R29L;ENSP00000364146:R29L;ENSP00000432814:R29L;ENSP00000432566:R29L	ENSP00000303292:R28L	R	-	2	0	C6orf10	32445666	0.127000	0.22367	0.573000	0.28510	0.151000	0.21798	0.245000	0.18142	1.252000	0.44001	0.643000	0.83706	CGA		0.418	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076178.4	NM_006781		114	102	1	0	5.45782e-69	1	8.06922e-69	114	102				
OR4K2	390431	broad.mit.edu	37	14	20344870	20344870	+	Silent	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr14:20344870C>A	ENST00000298642.2	+	1	480	c.444C>A	c.(442-444)tcC>tcA	p.S148S		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGTGGCTTCCTGGATTATGG	0.468																																						ENST00000298642.2																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43						c.(442-444)tcC>tcA		olfactory receptor, family 4, subfamily K, member 2							311.0	309.0	309.0					14																	20344870		2203	4300	6503	SO:0001819	synonymous_variant	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20344870C>A		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.444C>A	14.37:g.20344870C>A							p.S148S	NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	480	+	all_cancers(95;0.00108)		148					B2RNK8|Q6IFA5	Silent	SNP	ENST00000298642.2	37	c.444C>A	CCDS32023.1																																																																																				0.468	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			72	312	1	0	1.74474e-33	1	2.47305e-33	72	312				
BCRP7	100133163	broad.mit.edu	37	22	18846121	18846121	+	3'UTR	SNP	C	C	T	rs4302302	byFrequency	TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr22:18846121C>T	ENST00000412938.1	+	0	3479																											CACGCACTGGCGCACGATGTA	0.617																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	100133163							g.chr22:18846121C>T																												ENST00000412938.1:c.*3476C>T	22.37:g.18846121C>T														0	3479	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.617	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			5	41	0	0	0	1	0	5	41				
ICAM5	7087	broad.mit.edu	37	19	10404974	10404974	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr19:10404974C>T	ENST00000221980.4	+	8	2033	c.1970C>T	c.(1969-1971)aCa>aTa	p.T657I		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	657	Ig-like C2-type 7.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GTGGCCAAAACAGTCGTCGTG	0.662																																						ENST00000221980.4																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21						c.(1969-1971)aCa>aTa		intercellular adhesion molecule 5, telencephalin							95.0	110.0	105.0					19																	10404974		2203	4300	6503	SO:0001583	missense	7087				cell-cell adhesion	integral to plasma membrane		g.chr19:10404974C>T	U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.1970C>T	19.37:g.10404974C>T	ENSP00000221980:p.Thr657Ile						p.T657I	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		8	2033	+			657			Ig-like C2-type 7.		Q9Y6F3	Missense_Mutation	SNP	ENST00000221980.4	37	c.1970C>T	CCDS12233.1	.	.	.	.	.	.	.	.	.	.	C	8.945	0.966693	0.18659	.	.	ENSG00000105376	ENST00000221980	T	0.42513	0.97	4.67	-1.86	0.07760	Immunoglobulin-like fold (1);	0.936530	0.08794	N	0.892831	T	0.29945	0.0749	L	0.52573	1.65	0.09310	N	1	B	0.16802	0.019	B	0.19391	0.025	T	0.34403	-0.9830	10	0.35671	T	0.21	-0.2675	1.0812	0.01643	0.1549:0.4227:0.1516:0.2708	.	657	Q9UMF0	ICAM5_HUMAN	I	657	ENSP00000221980:T657I	ENSP00000221980:T657I	T	+	2	0	ICAM5	10265974	0.001000	0.12720	0.027000	0.17364	0.590000	0.36582	-0.426000	0.07008	-0.052000	0.13311	0.542000	0.68232	ACA		0.662	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259		83	857	0	0	0	1	0	83	857				
SCP2	6342	broad.mit.edu	37	1	53416550	53416550	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:53416550T>C	ENST00000528311.1	+	3	376	c.80T>C	c.(79-81)aTt>aCt	p.I27T	SCP2_ENST00000371513.5_Intron|SCP2_ENST00000407246.2_Missense_Mutation_p.I84T|SCP2_ENST00000371509.4_Intron|SCP2_ENST00000371514.3_Missense_Mutation_p.I108T	NM_001193617.1	NP_001180546.1	Q9BX26	SYCP2_HUMAN	sterol carrier protein 2	0					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						CGCCAGCTGATTCAGGGTGGT	0.378																																						ENST00000371514.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						c.(322-324)aTt>aCt		sterol carrier protein 2							179.0	167.0	171.0					1																	53416550		2203	4300	6503	SO:0001583	missense	6342				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding	g.chr1:53416550T>C	M75884	CCDS572.1, CCDS30719.1, CCDS41338.1, CCDS44149.1, CCDS44150.1, CCDS53317.1, CCDS53318.1, CCDS53319.1	1p32	2010-08-20			ENSG00000116171	ENSG00000116171			10606	protein-coding gene	gene with protein product		184755				1703300, 1718316	Standard	NM_001007098		Approved		uc001cur.2	P22307	OTTHUMG00000008936	ENST00000528311.1:c.80T>C	1.37:g.53416550T>C	ENSP00000434132:p.Ile27Thr					SCP2_ENST00000528311.1_Missense_Mutation_p.I27T|SCP2_ENST00000371513.5_Intron|SCP2_ENST00000407246.2_Missense_Mutation_p.I84T|SCP2_ENST00000371509.4_Intron	p.I108T	NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN			4	491	+			108					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000528311.1	37	c.323T>C	CCDS53319.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.0|23.0	4.363386|4.363386	0.82353|0.82353	.|.	.|.	ENSG00000116171|ENSG00000116171	ENST00000529363|ENST00000371514;ENST00000528311;ENST00000407246	.|D;D;D	.|0.97066	.|-4.23;-3.42;-4.23	5.61|5.61	5.61|5.61	0.85477|0.85477	.|Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	.|0.228496	.|0.44285	.|D	.|0.000466	D|D	0.98795|0.98795	0.9594|0.9594	H|H	0.97077|0.97077	3.935|3.935	0.80722|0.80722	D|D	1|1	.|D;D	.|0.59767	.|0.986;0.962	.|P;P	.|0.59643	.|0.861;0.794	D|D	0.99509|0.99509	1.0955|1.0955	5|10	.|0.87932	.|D	.|0	-12.8912|-12.8912	14.7841|14.7841	0.69787|0.69787	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|84;108	.|C9JC79;P22307	.|.;NLTP_HUMAN	L|T	83|108;27;84	.|ENSP00000360569:I108T;ENSP00000434132:I27T;ENSP00000384569:I84T	.|ENSP00000360569:I108T	F|I	+|+	1|2	0|0	SCP2|SCP2	53189138|53189138	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.230000|7.230000	0.78097|0.78097	2.123000|2.123000	0.65237|0.65237	0.460000|0.460000	0.39030|0.39030	TTC|ATT		0.378	SCP2-010	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387558.1	NM_002979		42	93	0	0	0	1	0	42	93				
PKHD1L1	93035	broad.mit.edu	37	8	110451194	110451194	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:110451194G>A	ENST00000378402.5	+	32	3933	c.3829G>A	c.(3829-3831)Gtt>Att	p.V1277I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1277	IPT/TIG 6.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGCGGTGTATGTTGGAGGAAA	0.338										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(3829-3831)Gtt>Att		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							81.0	78.0	79.0					8																	110451194		1820	4073	5893	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110451194G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.3829G>A	8.37:g.110451194G>A	ENSP00000367655:p.Val1277Ile	HNSCC(38;0.096)					p.V1277I	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		32	3933	+			1277			IPT/TIG 6.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.3829G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	8.817	0.936574	0.18206	.	.	ENSG00000205038	ENST00000378402	T	0.74421	-0.84	6.07	6.07	0.98685	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.077305	0.52532	D	0.000065	T	0.52885	0.1762	N	0.12663	0.25	0.26241	N	0.97887	B	0.32862	0.387	B	0.35039	0.194	T	0.48055	-0.9068	10	0.02654	T	1	.	11.4186	0.49967	0.0811:0.0:0.9189:0.0	.	1277	Q86WI1	PKHL1_HUMAN	I	1277	ENSP00000367655:V1277I	ENSP00000367655:V1277I	V	+	1	0	PKHD1L1	110520370	1.000000	0.71417	0.973000	0.42090	0.672000	0.39443	2.514000	0.45503	2.885000	0.99019	0.655000	0.94253	GTT		0.338	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		17	52	0	0	0	1	0	17	52				
HMCN1	83872	broad.mit.edu	37	1	186037038	186037038	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:186037038C>T	ENST00000271588.4	+	50	8007	c.7778C>T	c.(7777-7779)aCa>aTa	p.T2593I	HMCN1_ENST00000367492.2_Missense_Mutation_p.T2593I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2593	Ig-like C2-type 24.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AACAGCCCTACATCTTTGGTC	0.403																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(7777-7779)aCa>aTa		hemicentin 1							186.0	172.0	177.0					1																	186037038		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186037038C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.7778C>T	1.37:g.186037038C>T	ENSP00000271588:p.Thr2593Ile					HMCN1_ENST00000367492.2_Missense_Mutation_p.T2593I	p.T2593I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			50	8007	+			2593			Ig-like C2-type 24.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.7778C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.305002	0.23736	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.75821	-0.97;-0.97	5.48	5.48	0.80851	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.045907	0.85682	D	0.000000	T	0.63486	0.2515	N	0.01140	-0.99	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.65911	-0.6053	10	0.14656	T	0.56	.	12.6697	0.56860	0.0:0.9244:0.0:0.0756	.	2593	Q96RW7	HMCN1_HUMAN	I	2593	ENSP00000271588:T2593I;ENSP00000356462:T2593I	ENSP00000271588:T2593I	T	+	2	0	HMCN1	184303661	1.000000	0.71417	0.992000	0.48379	0.701000	0.40568	4.958000	0.63660	2.561000	0.86390	0.655000	0.94253	ACA		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		36	62	0	0	0	1	0	36	62				
GIP	2695	broad.mit.edu	37	17	47041686	47041686	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:47041686C>A	ENST00000357424.2	-	3	343	c.243G>T	c.(241-243)aaG>aaT	p.K81N		NM_004123.2	NP_004114.1	P09681	GIP_HUMAN	gastric inhibitory polypeptide	81					adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|digestive system development (GO:0055123)|endocrine pancreas development (GO:0031018)|exploration behavior (GO:0035640)|female pregnancy (GO:0007565)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of glucagon secretion (GO:0070094)|positive regulation of glucose transport (GO:0010828)|positive regulation of insulin secretion (GO:0032024)|regulation of insulin secretion (GO:0050796)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to lipid (GO:0033993)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|response to selenium ion (GO:0010269)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|secretory granule lumen (GO:0034774)	hormone activity (GO:0005179)			lung(2)|skin(1)|stomach(1)	4						TCTTCTTCCCCTTTTGGGCCA	0.557																																						ENST00000357424.2																			0				lung(2)|skin(1)|stomach(1)	4						c.(241-243)aaG>aaT		gastric inhibitory polypeptide							186.0	157.0	167.0					17																	47041686		2203	4300	6503	SO:0001583	missense	2695				energy reserve metabolic process|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr17:47041686C>A		CCDS11542.1	17q21.3-q22	2013-02-26			ENSG00000159224	ENSG00000159224		"""Endogenous ligands"""	4270	protein-coding gene	gene with protein product	"""glucose-dependent insulinotropic polypeptide"""	137240				2739653	Standard	NM_004123		Approved		uc002iol.1	P09681	OTTHUMG00000161171	ENST00000357424.2:c.243G>T	17.37:g.47041686C>A	ENSP00000350005:p.Lys81Asn						p.K81N	NM_004123.2	NP_004114.1	P09681	GIP_HUMAN			3	343	-			81					Q4VB42|Q6NTD3	Missense_Mutation	SNP	ENST00000357424.2	37	c.243G>T	CCDS11542.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750258	0.69533	.	.	ENSG00000159224	ENST00000357424	T	0.35605	1.3	5.32	5.32	0.75619	.	0.188986	0.37053	N	0.002280	T	0.39835	0.1093	L	0.29908	0.895	0.38928	D	0.957872	D	0.54047	0.964	P	0.52672	0.706	T	0.33111	-0.9881	10	0.72032	D	0.01	-13.4303	14.357	0.66745	0.0:1.0:0.0:0.0	.	81	P09681	GIP_HUMAN	N	81	ENSP00000350005:K81N	ENSP00000350005:K81N	K	-	3	2	GIP	44396685	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.518000	0.35877	2.769000	0.95229	0.563000	0.77884	AAG		0.557	GIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364044.1	NM_004123		45	119	1	0	2.56175e-15	1	3.20478e-15	45	119				
DNM1P47	100216544	broad.mit.edu	37	15	102304896	102304896	+	RNA	SNP	C	C	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr15:102304896C>G	ENST00000561463.1	+	0	12942									DNM1 pseudogene 47																		GAAGACACTCCTGGAGGAGTC	0.562																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102304896C>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304896C>G														0	12942	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.562	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	30	0	0	0	1	0	4	30				
KCNA3	3738	broad.mit.edu	37	1	111217053	111217053	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:111217053C>T	ENST00000369769.2	-	1	602	c.379G>A	c.(379-381)Gag>Aag	p.E127K		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	127					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	AGCAGCGTCTCGGGGAACTGG	0.672																																						ENST00000369769.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(379-381)Gag>Aag		potassium voltage-gated channel, shaker-related subfamily, member 3							44.0	54.0	50.0					1																	111217053		2203	4300	6503	SO:0001583	missense	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111217053C>T	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.379G>A	1.37:g.111217053C>T	ENSP00000358784:p.Glu127Lys						p.E127K	NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	602	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	127					Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	c.379G>A	CCDS828.2	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502418	0.64298	.	.	ENSG00000177272	ENST00000369769	T	0.76709	-1.04	4.33	4.33	0.51752	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.191415	0.44097	U	0.000495	T	0.53753	0.1816	N	0.25201	0.72	0.58432	D	0.999994	P	0.39782	0.688	B	0.34991	0.193	T	0.67264	-0.5714	10	0.87932	D	0	.	15.5742	0.76362	0.0:1.0:0.0:0.0	.	127	P22001	KCNA3_HUMAN	K	127	ENSP00000358784:E127K	ENSP00000358784:E127K	E	-	1	0	KCNA3	111018576	0.979000	0.34478	0.977000	0.42913	0.990000	0.78478	2.589000	0.46145	1.946000	0.56461	0.462000	0.41574	GAG		0.672	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		53	107	0	0	0	1	0	53	107				
PCDH8	5100	broad.mit.edu	37	13	53419047	53419047	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr13:53419047T>A	ENST00000377942.3	-	3	3064	c.2861A>T	c.(2860-2862)gAg>gTg	p.E954V	PCDH8_ENST00000338862.4_Missense_Mutation_p.E857V	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	954					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GATCTTACACTCAGCGGTGCA	0.537																																					GBM(36;25 841 9273 49207)	ENST00000377942.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36						c.(2860-2862)gAg>gTg		protocadherin 8							78.0	55.0	63.0					13																	53419047		2203	4300	6503	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53419047T>A	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2861A>T	13.37:g.53419047T>A	ENSP00000367177:p.Glu954Val					PCDH8_ENST00000338862.4_Missense_Mutation_p.E857V	p.E954V	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	3	3064	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	954					B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.2861A>T	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.981948	0.74474	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.74421	-0.74;-0.84	5.95	5.95	0.96441	.	0.000000	0.44688	D	0.000433	D	0.86108	0.5854	M	0.73962	2.25	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.87305	0.2308	10	0.66056	D	0.02	.	16.4069	0.83677	0.0:0.0:0.0:1.0	.	857;954	O95206-2;O95206	.;PCDH8_HUMAN	V	954;857;480;797	ENSP00000367177:E954V;ENSP00000341350:E857V	ENSP00000341350:E857V	E	-	2	0	PCDH8	52317048	1.000000	0.71417	0.998000	0.56505	0.934000	0.57294	7.698000	0.84413	2.272000	0.75746	0.460000	0.39030	GAG		0.537	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		55	28	0	0	0	1	0	55	28				
SEC61A1	29927	broad.mit.edu	37	3	127788488	127788488	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:127788488G>A	ENST00000243253.3	+	12	1598	c.1414G>A	c.(1414-1416)Ggg>Agg	p.G472R	SEC61A1_ENST00000464451.1_Missense_Mutation_p.G478R|SEC61A1_ENST00000424880.2_Missense_Mutation_p.G352R|RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000483956.1_3'UTR	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	472					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						TGGCAGCATGGGGGCCCTGCT	0.602																																						ENST00000243253.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						c.(1414-1416)Ggg>Agg		Sec61 alpha 1 subunit (S. cerevisiae)							81.0	89.0	86.0					3																	127788488		2203	4300	6503	SO:0001583	missense	29927				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding	g.chr3:127788488G>A	AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.1414G>A	3.37:g.127788488G>A	ENSP00000243253:p.Gly472Arg					SEC61A1_ENST00000483956.1_3'UTR|RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000464451.1_Missense_Mutation_p.G478R|SEC61A1_ENST00000424880.2_Missense_Mutation_p.G352R	p.G472R	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN			12	1598	+			472					P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Missense_Mutation	SNP	ENST00000243253.3	37	c.1414G>A	CCDS3046.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907032	0.52333	.	.	ENSG00000058262	ENST00000464451;ENST00000243253;ENST00000424880	.	.	.	5.96	5.96	0.96718	.	0.151604	0.64402	N	0.000016	T	0.71426	0.3338	M	0.67397	2.05	0.80722	D	1	B	0.31968	0.349	B	0.36808	0.233	T	0.70817	-0.4769	9	0.62326	D	0.03	.	20.4084	0.99013	0.0:0.0:1.0:0.0	.	472	P61619	S61A1_HUMAN	R	478;472;352	.	ENSP00000243253:G472R	G	+	1	0	SEC61A1	129271178	1.000000	0.71417	1.000000	0.80357	0.026000	0.11368	6.657000	0.74402	2.833000	0.97629	0.650000	0.86243	GGG		0.602	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356541.2	NM_013336		42	137	0	0	0	1	0	42	137				
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q					mastermind-like 3 (Drosophila)									p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542																																						ENST00000398940.1																			2	Substitution - coding silent(2)	p.Q497Q(2)	prostate(2)	breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.e1+1		mastermind-like 3 (Drosophila)							13.0	19.0	17.0					4																	140811099		2117	4226	6343	SO:0001630	splice_region_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811099C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000398940.1:c.108+1G>A	4.37:g.140811099C>T						MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q	p.Q36_splice			Q96JK9	MAML3_HUMAN			1	107	-	all_hematologic(180;0.162)		497						Splice_Site	SNP	ENST00000398940.1	37	c.108_splice																																																																																					0.542	MAML3-202	KNOWN	basic	protein_coding	protein_coding			Silent	6	94	0	0	0	1	0	6	94				
SLC38A10	124565	broad.mit.edu	37	17	79225335	79225335	+	Missense_Mutation	SNP	C	C	T	rs561261394		TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:79225335C>T	ENST00000374759.3	-	14	2406	c.2023G>A	c.(2023-2025)Gtg>Atg	p.V675M	SLC38A10_ENST00000288439.5_Missense_Mutation_p.V675M	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	675					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCTCGCTCCACGTCCCTCTGC	0.726													C|||	1	0.000199681	0.0008	0.0	5008	,	,		12631	0.0		0.0	False		,,,				2504	0.0					ENST00000374759.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(2023-2025)Gtg>Atg		solute carrier family 38, member 10							8.0	11.0	10.0					17																	79225335		2150	4238	6388	SO:0001583	missense	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79225335C>T	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.2023G>A	17.37:g.79225335C>T	ENSP00000363891:p.Val675Met					SLC38A10_ENST00000288439.5_Missense_Mutation_p.V675M	p.V675M	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		14	2406	-	all_neural(118;0.0804)|Melanoma(429;0.242)		675					Q6ZRC5|Q8NA99|Q96C66	Missense_Mutation	SNP	ENST00000374759.3	37	c.2023G>A	CCDS42397.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.086984	0.55861	.	.	ENSG00000157637	ENST00000374759;ENST00000540966;ENST00000288439	T;T;T	0.46819	3.08;0.86;2.78	3.68	0.366	0.16136	.	379.908000	0.00166	N	0.000000	T	0.45337	0.1337	L	0.38175	1.15	0.09310	N	1	B;D	0.61697	0.109;0.99	B;P	0.48270	0.006;0.572	T	0.31916	-0.9926	10	0.49607	T	0.09	-1.6804	5.8617	0.18752	0.3364:0.5703:0.0:0.0933	.	675;675	Q9HBR0-2;Q9HBR0	.;S38AA_HUMAN	M	675;53;675	ENSP00000363891:V675M;ENSP00000437601:V53M;ENSP00000288439:V675M	ENSP00000288439:V675M	V	-	1	0	SLC38A10	76839930	0.000000	0.05858	0.000000	0.03702	0.348000	0.29142	0.455000	0.21843	0.018000	0.15052	0.453000	0.30009	GTG		0.726	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		8	7	0	0	0	1	0	8	7				
GTF2E2	2961	broad.mit.edu	37	8	30511011	30511011	+	Silent	SNP	C	C	A	rs116171256|rs572162637	byFrequency	TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:30511011C>A	ENST00000355904.4	-	2	387	c.105G>T	c.(103-105)tcG>tcT	p.S35S		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	35	Poly-Ser.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIE complex (GO:0005673)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		TCTTCTTTGACGATGATGATG	0.383																																						ENST00000355904.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(103-105)tcG>tcT		general transcription factor IIE, polypeptide 2, beta 34kDa							155.0	149.0	151.0					8																	30511011		2202	4300	6502	SO:0001819	synonymous_variant	2961				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding	g.chr8:30511011C>A	BC030572	CCDS6078.1	8p12	2010-03-23	2002-08-29		ENSG00000197265	ENSG00000197265		"""General transcription factors"""	4651	protein-coding gene	gene with protein product		189964	"""general transcription factor IIE, polypeptide 2 (beta subunit, 34kD)"""			1956404	Standard	NM_002095		Approved	TFIIE-B, FE, TF2E2	uc003xig.3	P29084	OTTHUMG00000163934	ENST00000355904.4:c.105G>T	8.37:g.30511011C>A							p.S35S	NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)	2	387	-			35			Poly-Ser.		D3DSV2|Q9H2B9	Silent	SNP	ENST00000355904.4	37	c.105G>T	CCDS6078.1																																																																																				0.383	GTF2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376459.2	NM_002095		19	96	1	0	2.39187e-15	1	3.00443e-15	19	96				
GLDC	2731	broad.mit.edu	37	9	6536092	6536092	+	Missense_Mutation	SNP	C	C	T	rs151100082		TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:6536092C>T	ENST00000321612.6	-	23	2960	c.2810G>A	c.(2809-2811)cGc>cAc	p.R937H		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	937					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	GGGGTCGATGCGGCCCTCCTC	0.522																																						ENST00000321612.6																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2809-2811)cGc>cAc		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	C	HIS/ARG	2,4404	2.1+/-5.4	0,2,2201	69.0	61.0	63.0		2810	5.3	1.0	9	dbSNP_134	63	0,8600		0,0,4300	no	missense	GLDC	NM_000170.2	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	937/1021	6536092	2,13004	2203	4300	6503	SO:0001583	missense	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6536092C>T	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.2810G>A	9.37:g.6536092C>T	ENSP00000370737:p.Arg937His						p.R937H	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	23	2960	-		Acute lymphoblastic leukemia(23;0.161)	937					Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	c.2810G>A	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	C	32	5.116651	0.94385	4.54E-4	0.0	ENSG00000178445	ENST00000321612	D	0.84442	-1.85	5.33	5.33	0.75918	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.89280	0.6670	M	0.67625	2.065	0.80722	D	1	D	0.63880	0.993	P	0.52856	0.711	D	0.89861	0.4016	10	0.59425	D	0.04	-19.0631	19.3975	0.94612	0.0:1.0:0.0:0.0	.	937	P23378	GCSP_HUMAN	H	937	ENSP00000370737:R937H	ENSP00000370737:R937H	R	-	2	0	GLDC	6526092	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	5.690000	0.68241	2.651000	0.90000	0.455000	0.32223	CGC		0.522	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		3	35	0	0	0	1	0	3	35				
CFAP54	144535	broad.mit.edu	37	12	97112295	97112295	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr12:97112295C>G	ENST00000524981.4	+	49	6822	c.6799C>G	c.(6799-6801)Cta>Gta	p.L2267V				Q96N23	CL055_HUMAN		0																	TCTTAGCATGCTAAAGGTAAG	0.338																																						ENST00000524981.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(2152-2154)Cta>Gta									57.0	58.0	58.0					12																	97112295		2201	4298	6499	SO:0001583	missense	144535							g.chr12:97112295C>G																												ENST00000524981.4:c.6799C>G	12.37:g.97112295C>G	ENSP00000431759:p.Leu2267Val						p.L718V			Q6ZTY8	CL063_HUMAN			16	2152	+			692						Missense_Mutation	SNP	ENST00000524981.4	37	c.2152C>G		.	.	.	.	.	.	.	.	.	.	C	9.637	1.138040	0.21123	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	4.94	-1.75	0.08031	.	0.277119	0.25683	N	0.028997	T	0.29914	0.0748	.	.	.	0.09310	N	1	B	0.31680	0.335	B	0.37267	0.245	T	0.21724	-1.0237	8	0.33940	T	0.23	-1.2111	8.343	0.32254	0.6377:0.2822:0.0:0.0801	.	692	Q6ZTY8	CL063_HUMAN	V	2267;692	.	ENSP00000345466:L692V	L	+	1	2	C12orf63	95636426	0.001000	0.12720	0.010000	0.14722	0.099000	0.18886	-0.615000	0.05597	-0.613000	0.05694	-0.379000	0.06801	CTA		0.338	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			15	42	0	0	0	1	0	15	42				
LRRC8B	23507	broad.mit.edu	37	1	90058601	90058601	+	Silent	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:90058601G>A	ENST00000330947.2	+	6	2771	c.2411G>A	c.(2410-2412)tGa>tAa	p.*804*	LRRC8B_ENST00000358200.4_Silent_p.*804*|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000439853.1_Silent_p.*804*	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	0					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		GACAAATGTTGACTTAAAGAA	0.448																																						ENST00000330947.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26						c.(2410-2412)tGa>tAa		leucine rich repeat containing 8 family, member B							86.0	83.0	84.0					1																	90058601		2203	4300	6503	SO:0001819	synonymous_variant	23507					integral to membrane		g.chr1:90058601G>A	AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"""T cell activation leucine repeat rich protein"""	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.2411G>A	1.37:g.90058601G>A						LRRC8B_ENST00000439853.1_Silent_p.*804*|LRRC8B_ENST00000358200.4_Silent_p.*804*|RP5-1007M22.2_ENST00000443562.1_RNA	p.*804*	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN		all cancers(265;0.00515)|Epithelial(280;0.0241)	6	2771	+		all_lung(203;0.17)	0					D3DT28|Q6UY21|Q8N106|Q92627	Silent	SNP	ENST00000330947.2	37	c.2411G>A	CCDS724.1																																																																																				0.448	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		26	61	0	0	0	1	0	26	61				
TCTE3	6991	broad.mit.edu	37	6	170140341	170140341	+	Silent	SNP	A	A	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr6:170140341A>G	ENST00000366774.3	-	4	637	c.537T>C	c.(535-537)gcT>gcC	p.A179A	RP1-266L20.4_ENST00000430250.1_RNA	NM_174910.1	NP_777570.1	Q8IZS6	TC1D3_HUMAN	t-complex-associated-testis-expressed 3	179					transport (GO:0006810)	cytoplasm (GO:0005737)|dynein complex (GO:0030286)|membrane (GO:0016020)|microtubule (GO:0005874)	motor activity (GO:0003774)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|prostate(1)	4		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;1.08e-21)|BRCA - Breast invasive adenocarcinoma(81;1.32e-07)|GBM - Glioblastoma multiforme(31;0.00157)		CTTCGTGTTTAGCTGCGACCC	0.413																																						ENST00000366774.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|prostate(1)	4						c.(535-537)gcT>gcC		t-complex-associated-testis-expressed 3							139.0	124.0	129.0					6																	170140341		2203	4300	6503	SO:0001819	synonymous_variant	6991				transport	cytoplasm|dynein complex|membrane|microtubule	motor activity	g.chr6:170140341A>G	AF519569	CCDS5310.1	6q27	2014-06-03			ENSG00000184786	ENSG00000184786			11695	protein-coding gene	gene with protein product	"""Tctex1 domain containing 3"""	186977				1505969, 12584439	Standard	NM_174910		Approved	TCTEX1D3	uc003qxe.1	Q8IZS6	OTTHUMG00000016068	ENST00000366774.3:c.537T>C	6.37:g.170140341A>G							p.A179A	NM_174910.1	NP_777570.1	Q8IZS6	TC1D3_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.08e-21)|BRCA - Breast invasive adenocarcinoma(81;1.32e-07)|GBM - Glioblastoma multiforme(31;0.00157)	4	637	-		Breast(66;0.000338)	179						Silent	SNP	ENST00000366774.3	37	c.537T>C	CCDS5310.1																																																																																				0.413	TCTE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043243.1	NM_174910		29	56	0	0	0	1	0	29	56				
PRDM9	56979	broad.mit.edu	37	5	23522455	23522455	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:23522455G>C	ENST00000296682.3	+	7	733	c.551G>C	c.(550-552)cGa>cCa	p.R184P		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	184					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TATAGCCTGCGAGAAAGAAAG	0.458										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(550-552)cGa>cCa		PR domain containing 9							165.0	170.0	168.0					5																	23522455		1931	4157	6088	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23522455G>C	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.551G>C	5.37:g.23522455G>C	ENSP00000296682:p.Arg184Pro	HNSCC(3;0.000094)					p.R184P	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			7	733	+			184					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.551G>C	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075674	0.55646	.	.	ENSG00000164256	ENST00000296682	T	0.14640	2.49	3.63	3.63	0.41609	SSXRD motif (1);	.	.	.	.	T	0.24928	0.0605	L	0.29908	0.895	0.09310	N	0.999995	D	0.76494	0.999	D	0.85130	0.997	T	0.05131	-1.0904	9	0.87932	D	0	-7.7103	11.5487	0.50708	0.0:0.0:1.0:0.0	.	184	Q9NQV7	PRDM9_HUMAN	P	184	ENSP00000296682:R184P	ENSP00000296682:R184P	R	+	2	0	PRDM9	23558212	0.910000	0.30920	0.093000	0.20910	0.011000	0.07611	2.379000	0.44318	1.974000	0.57490	0.531000	0.56144	CGA		0.458	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		55	148	0	0	0	1	0	55	148				
BEST2	54831	broad.mit.edu	37	19	12864107	12864107	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr19:12864107C>G	ENST00000549706.1	+	3	510	c.186C>G	c.(184-186)ttC>ttG	p.F62L	BEST2_ENST00000042931.1_Missense_Mutation_p.F62L|BEST2_ENST00000553030.1_Missense_Mutation_p.F62L			Q8NFU1	BEST2_HUMAN	bestrophin 2	62					chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						AGCGCTACTTCGAGAAGCTTG	0.557																																						ENST00000549706.1																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						c.(184-186)ttC>ttG		bestrophin 2							184.0	174.0	177.0					19																	12864107		2073	4193	6266	SO:0001583	missense	54831				membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity	g.chr19:12864107C>G	AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17107	protein-coding gene	gene with protein product		607335	"""vitelliform macular dystrophy 2-like 1"""	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.186C>G	19.37:g.12864107C>G	ENSP00000448310:p.Phe62Leu					BEST2_ENST00000553030.1_Missense_Mutation_p.F62L|BEST2_ENST00000042931.1_Missense_Mutation_p.F62L	p.F62L			Q8NFU1	BEST2_HUMAN			3	510	+			62					Q53YQ8|Q9NXP0	Missense_Mutation	SNP	ENST00000549706.1	37	c.186C>G	CCDS42506.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688475	0.48097	.	.	ENSG00000039987	ENST00000549706;ENST00000553030;ENST00000042931	D;D;D	0.98717	-5.09;-5.09;-5.09	3.95	-3.95	0.04118	.	0.000000	0.64402	D	0.000002	D	0.99048	0.9674	H	0.94847	3.59	0.49389	D	0.99978	D	0.89917	1.0	D	0.85130	0.997	D	0.98698	1.0699	10	0.87932	D	0	-24.3123	10.1083	0.42546	0.0:0.4831:0.0:0.5169	.	62	Q8NFU1	BEST2_HUMAN	L	62	ENSP00000448310:F62L;ENSP00000447203:F62L;ENSP00000042931:F62L	ENSP00000042931:F62L	F	+	3	2	BEST2	12725107	0.013000	0.17824	0.970000	0.41538	0.379000	0.30106	-1.039000	0.03550	-0.942000	0.03695	-1.800000	0.00619	TTC		0.557	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403343.1	NM_017682		137	62	0	0	0	1	0	137	62				
EPS8L1	54869	broad.mit.edu	37	19	55593652	55593652	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr19:55593652C>T	ENST00000201647.6	+	11	1056	c.1000C>T	c.(1000-1002)Cgc>Tgc	p.R334C	EPS8L1_ENST00000588359.1_Intron|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000586329.1_Missense_Mutation_p.R316C|EPS8L1_ENST00000540810.1_Missense_Mutation_p.R270C|EPS8L1_ENST00000245618.5_Missense_Mutation_p.R207C	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	334					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GGCCCGGCTGCGCGGCAACAT	0.746																																					Ovarian(149;255 1863 3636 27051 29647)	ENST00000201647.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12						c.(1000-1002)Cgc>Tgc		EPS8-like 1							14.0	16.0	15.0					19																	55593652		2195	4288	6483	SO:0001583	missense	54869					cytoplasm		g.chr19:55593652C>T	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.1000C>T	19.37:g.55593652C>T	ENSP00000201647:p.Arg334Cys					EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000586329.1_Missense_Mutation_p.R316C|EPS8L1_ENST00000540810.1_Missense_Mutation_p.R270C|EPS8L1_ENST00000245618.5_Missense_Mutation_p.R207C|EPS8L1_ENST00000588359.1_Intron	p.R334C	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	11	1056	+			334					Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	ENST00000201647.6	37	c.1000C>T	CCDS12914.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264245	0.80358	.	.	ENSG00000131037	ENST00000310075;ENST00000201647;ENST00000540810;ENST00000245618	T;T;T	0.47528	0.84;0.84;0.84	3.96	3.96	0.45880	.	0.183014	0.42294	D	0.000727	T	0.63534	0.2519	M	0.70275	2.135	0.53688	D	0.999977	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79108	0.948;0.977;0.988;0.992;0.928	T	0.66504	-0.5907	10	0.87932	D	0	-17.7378	9.1719	0.37086	0.2174:0.7826:0.0:0.0	.	270;316;81;207;334	B4DKV7;Q8TE68-3;Q8TE68-4;Q8TE68-2;Q8TE68	.;.;.;.;ES8L1_HUMAN	C	316;334;270;207	ENSP00000201647:R334C;ENSP00000437541:R270C;ENSP00000245618:R207C	ENSP00000201647:R334C	R	+	1	0	EPS8L1	60285464	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.177000	0.42509	2.214000	0.71695	0.491000	0.48974	CGC		0.746	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		3	15	0	0	0	1	0	3	15				
FAM114A2	10827	broad.mit.edu	37	5	153377430	153377430	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:153377430G>A	ENST00000351797.4	-	12	1338	c.1262C>T	c.(1261-1263)aCa>aTa	p.T421I	FAM114A2_ENST00000518946.1_5'Flank|FAM114A2_ENST00000520313.1_Missense_Mutation_p.T351I|FAM114A2_ENST00000520667.1_Missense_Mutation_p.T421I|FAM114A2_ENST00000522858.1_Missense_Mutation_p.T421I	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	421							purine nucleotide binding (GO:0017076)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						CAACACAATTGTCATCCTAGG	0.343																																						ENST00000351797.4																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						c.(1261-1263)aCa>aTa		family with sequence similarity 114, member A2							199.0	205.0	203.0					5																	153377430		2203	4300	6503	SO:0001583	missense	10827						purine nucleotide binding	g.chr5:153377430G>A	AF159700	CCDS4323.1	5q31-q33	2008-06-13	2008-06-13	2008-06-13	ENSG00000055147	ENSG00000055147			1333	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 3"""	C5orf3		10843801	Standard	XM_005268359		Approved	133K02	uc003lvc.3	Q9NRY5	OTTHUMG00000130147	ENST00000351797.4:c.1262C>T	5.37:g.153377430G>A	ENSP00000341597:p.Thr421Ile					FAM114A2_ENST00000520313.1_Missense_Mutation_p.T351I|FAM114A2_ENST00000522858.1_Missense_Mutation_p.T421I|FAM114A2_ENST00000520667.1_Missense_Mutation_p.T421I	p.T421I	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN			12	1338	-			421					B2R8D8|Q9H7E0	Missense_Mutation	SNP	ENST00000351797.4	37	c.1262C>T	CCDS4323.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161397	0.78226	.	.	ENSG00000055147	ENST00000351797;ENST00000522858;ENST00000520667;ENST00000520313	T;T;T;T	0.23147	2.15;2.15;2.15;1.92	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.56187	0.1968	M	0.85197	2.74	0.53688	D	0.999977	D;D	0.89917	1.0;0.958	D;P	0.87578	0.998;0.807	T	0.62431	-0.6856	10	0.66056	D	0.02	-14.4994	15.8933	0.79318	0.0:0.0:1.0:0.0	.	351;421	E7ESJ7;Q9NRY5	.;F1142_HUMAN	I	421;421;421;351	ENSP00000341597:T421I;ENSP00000430489:T421I;ENSP00000430384:T421I;ENSP00000429088:T351I	ENSP00000341597:T421I	T	-	2	0	FAM114A2	153357623	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.452000	0.80683	2.473000	0.83533	0.655000	0.94253	ACA		0.343	FAM114A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252455.1	NM_018691		82	220	0	0	0	1	0	82	220				
MEGF6	1953	broad.mit.edu	37	1	3409312	3409312	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:3409312A>C	ENST00000356575.4	-	35	4633	c.4407T>G	c.(4405-4407)ttT>ttG	p.F1469L	MEGF6_ENST00000294599.4_Missense_Mutation_p.F1157L	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1469	EGF-like 27. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		AGCTGGGCCCAAACTGGCCCC	0.662																																					Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(4405-4407)ttT>ttG		multiple EGF-like-domains 6							23.0	28.0	27.0					1																	3409312		2007	4148	6155	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3409312A>C	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.4407T>G	1.37:g.3409312A>C	ENSP00000348982:p.Phe1469Leu					MEGF6_ENST00000294599.4_Missense_Mutation_p.F1157L	p.F1469L	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	35	4633	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	1469			EGF-like 27.		Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.4407T>G	CCDS41237.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.78|15.78	2.933936|2.933936	0.52866|0.52866	.|.	.|.	ENSG00000162591|ENSG00000162591	ENST00000294599;ENST00000356575|ENST00000491842	T;T|.	0.35789|.	1.29;1.29|.	5.24|5.24	-6.3|-6.3	0.02007|0.02007	EGF-like, laminin (1);Epidermal growth factor-like, type 3 (1);|.	0.139249|.	0.49305|.	D|.	0.000160|.	T|T	0.80670|0.80670	0.4667|0.4667	H|H	0.94658|0.94658	3.565|3.565	0.34768|0.34768	D|D	0.733457|0.733457	D;D|.	0.58970|.	0.974;0.984|.	P;P|.	0.59171|.	0.692;0.853|.	D|D	0.86000|0.86000	0.1494|0.1494	10|5	0.13470|.	T|.	0.59|.	-21.9669|-21.9669	16.2647|16.2647	0.82571|0.82571	0.7709:0.0:0.2291:0.0|0.7709:0.0:0.2291:0.0	.|.	1469;1157|.	O75095;O75095-2|.	MEGF6_HUMAN;.|.	L|W	1157;1469|200	ENSP00000294599:F1157L;ENSP00000348982:F1469L|.	ENSP00000294599:F1157L|.	F|L	-|-	3|2	2|0	MEGF6|MEGF6	3399172|3399172	0.000000|0.000000	0.05858|0.05858	0.306000|0.306000	0.25113|0.25113	0.018000|0.018000	0.09664|0.09664	-1.800000|-1.800000	0.01744|0.01744	-1.349000|-1.349000	0.02202|0.02202	-1.179000|-1.179000	0.01719|0.01719	TTT|TTG		0.662	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		12	25	0	0	0	1	0	12	25				
CSMD2	114784	broad.mit.edu	37	1	34090837	34090837	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:34090837C>T	ENST00000373380.1	-	13	2153	c.1933G>A	c.(1933-1935)Gcc>Acc	p.A645T	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.A1772T|CSMD2_ENST00000373377.1_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1732	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CACTGCGTGGCGCTGGTTCGA	0.632																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(5314-5316)Gcc>Acc		CUB and Sushi multiple domains 2							43.0	36.0	38.0					1																	34090837		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34090837C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.1933G>A	1.37:g.34090837C>T	ENSP00000362478:p.Ala645Thr					CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.A645T	p.A1772T	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			34	5490	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1732			Sushi 10.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.5314G>A		.	.	.	.	.	.	.	.	.	.	C	26.4	4.735703	0.89482	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.24723	1.84;2.13	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.50429	0.1615	M	0.76938	2.355	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.87578	0.998;0.916;0.916	T	0.43909	-0.9362	10	0.06099	T	0.92	.	19.4432	0.94831	0.0:1.0:0.0:0.0	.	645;1732;1772	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	T	1772;645	ENSP00000362479:A1772T;ENSP00000362478:A645T	ENSP00000241312:A1732T	A	-	1	0	CSMD2	33863424	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.804000	0.69135	2.941000	0.99782	0.655000	0.94253	GCC		0.632	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		4	15	0	0	0	1	0	4	15				
PPIH	10465	broad.mit.edu	37	1	43130566	43130566	+	Silent	SNP	G	G	A	rs374293387		TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:43130566G>A	ENST00000304979.3	+	6	298	c.276G>A	c.(274-276)cgG>cgA	p.R92R	PPIH_ENST00000372550.1_Silent_p.R49R|PPIH_ENST00000455203.2_Silent_p.R49R	NM_006347.3	NP_006338.1	O43447	PPIH_HUMAN	peptidylprolyl isomerase H (cyclophilin H)	92	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of viral genome replication (GO:0045070)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|ribonucleoprotein complex binding (GO:0043021)			endometrium(1)|large_intestine(1)|lung(2)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)			L-Proline(DB00172)	GTATTTACCGGGGGCCATTTG	0.488																																					NSCLC(73;23 1942 10718 46854)	ENST00000455203.2																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(145-147)cgG>cgA		peptidylprolyl isomerase H (cyclophilin H)	L-Proline(DB00172)	G		1,4405	2.1+/-5.4	0,1,2202	70.0	73.0	72.0		276	2.2	1.0	1		72	0,8600		0,0,4300	no	coding-synonymous	PPIH	NM_006347.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		92/178	43130566	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10465				protein complex assembly|protein folding	cytoplasm|nuclear speck|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|ribonucleoprotein binding	g.chr1:43130566G>A	AF016371	CCDS469.1	1p34.1	2012-06-07	2006-01-12		ENSG00000171960	ENSG00000171960			14651	protein-coding gene	gene with protein product	"""USA-CyP SnuCyp-20"", ""cyclophilin H"", ""U-snRNP-associated cyclophilin SunCyp-20"", ""small nuclear ribonucleoprotein particle-specific cyclophilin H"", ""rotamase H"", ""peptidyl-prolyl cis-trans isomerase H"", ""PPIase h"""	606095	"""peptidyl prolyl isomerase H (cyclophilin H)"""			9404889, 9570313	Standard	NM_006347		Approved	USA-CYP, CYP-20, SnuCyp-20, CYPH, MGC5016	uc001chq.3	O43447	OTTHUMG00000007520	ENST00000304979.3:c.276G>A	1.37:g.43130566G>A						PPIH_ENST00000372550.1_Silent_p.R49R|PPIH_ENST00000304979.3_Silent_p.R92R	p.R49R			O43447	PPIH_HUMAN			4	575	+	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	92			PPIase cyclophilin-type.		A6NNE7	Silent	SNP	ENST00000304979.3	37	c.147G>A	CCDS469.1																																																																																				0.488	PPIH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019778.1	NM_006347		11	41	0	0	0	1	0	11	41				
PTPRR	5801	broad.mit.edu	37	12	71029627	71029627	+	IGR	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr12:71029627C>T	ENST00000283228.2	-	0	3529				PTPRR_ENST00000537619.2_5'Flank|PTPRB_ENST00000550358.1_Missense_Mutation_p.R92Q|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Missense_Mutation_p.R91Q|PTPRB_ENST00000334414.6_Missense_Mutation_p.R92Q	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R						ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GCAGGTCCATCGGGGTGCCTG	0.547																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(274-276)cGa>cAa		protein tyrosine phosphatase, receptor type, B							51.0	51.0	51.0					12																	71029627		1949	4138	6087	SO:0001628	intergenic_variant	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71029627C>T	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502		12.37:g.71029627C>T						PTPRB_ENST00000550358.1_Missense_Mutation_p.R92Q|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Missense_Mutation_p.R91Q	p.R92Q	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		2	319	-	Renal(347;0.236)		0			Fibronectin type-III 1.		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.275G>A	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974405	0.53720	.	.	ENSG00000127329	ENST00000334414;ENST00000550358;ENST00000544694;ENST00000551525	T;T;T	0.32023	1.47;1.47;1.47	6.04	1.39	0.22231	.	.	.	.	.	T	0.18551	0.0445	N	0.24115	0.695	0.40332	D	0.978934	B;B;B;B	0.22346	0.068;0.032;0.013;0.013	B;B;B;B	0.15484	0.013;0.003;0.003;0.003	T	0.06285	-1.0835	9	0.87932	D	0	.	7.3525	0.26700	0.0:0.507:0.1182:0.3747	.	92;91;92;92	Q6ZTX7;F8VSD5;P23467-3;F8VU56	.;.;.;.	Q	92;92;92;91	ENSP00000334928:R92Q;ENSP00000448058:R92Q;ENSP00000448349:R91Q	ENSP00000334928:R92Q	R	-	2	0	PTPRB	69315894	0.003000	0.15002	0.975000	0.42487	0.962000	0.63368	-0.288000	0.08377	0.294000	0.22547	0.563000	0.77884	CGA		0.547	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		16	22	0	0	0	1	0	16	22				
DPYD	1806	broad.mit.edu	37	1	98039334	98039334	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:98039334C>T	ENST00000370192.3	-	11	1421	c.1321G>A	c.(1321-1323)Gtt>Att	p.V441I		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	441					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TCACTCAGAACTGAACCAAAG	0.418																																						ENST00000370192.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(1321-1323)Gtt>Att		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						204.0	175.0	185.0					1																	98039334		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:98039334C>T	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.1321G>A	1.37:g.98039334C>T	ENSP00000359211:p.Val441Ile						p.V441I	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	11	1421	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	441					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.1321G>A	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.167812	0.38315	.	.	ENSG00000188641	ENST00000370192	D	0.88046	-2.33	5.81	4.89	0.63831	.	0.436800	0.27155	N	0.020669	T	0.73799	0.3633	L	0.47716	1.5	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.70861	-0.4757	10	0.37606	T	0.19	-11.4005	9.6191	0.39710	0.0:0.8499:0.0:0.1501	.	441	Q12882	DPYD_HUMAN	I	441	ENSP00000359211:V441I	ENSP00000359211:V441I	V	-	1	0	DPYD	97811922	0.011000	0.17503	0.982000	0.44146	0.996000	0.88848	0.150000	0.16263	2.737000	0.93849	0.650000	0.86243	GTT		0.418	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		41	101	0	0	0	1	0	41	101				
CSMD3	114788	broad.mit.edu	37	8	113308093	113308093	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:113308093G>T	ENST00000297405.5	-	54	8827	c.8583C>A	c.(8581-8583)caC>caA	p.H2861Q	CSMD3_ENST00000352409.3_Missense_Mutation_p.H2791Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.H2692Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.H2821Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2861	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAGACCAATTGTGATCCTGTT	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(8581-8583)caC>caA		CUB and Sushi multiple domains 3							121.0	101.0	108.0					8																	113308093		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113308093G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8583C>A	8.37:g.113308093G>T	ENSP00000297405:p.His2861Gln	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.H2821Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.H2791Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.H2692Q	p.H2861Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			54	8827	-			2861			Sushi 18.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.8583C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046253	0.75846	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06	5.31	4.43	0.53597	Complement control module (2);Sushi/SCR/CCP (3);	0.067418	0.64402	D	0.000018	T	0.61937	0.2387	N	0.20881	0.62	0.51767	D	0.999937	P;P;D	0.62365	0.954;0.875;0.991	P;P;P	0.56916	0.809;0.735;0.73	T	0.65228	-0.6219	10	0.54805	T	0.06	.	13.7873	0.63117	0.0739:0.0:0.9261:0.0	.	2692;2861;2821	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Q	2821;2861;2131;2692;2791	ENSP00000345799:H2821Q;ENSP00000297405:H2861Q;ENSP00000341558:H2131Q;ENSP00000412263:H2692Q;ENSP00000343124:H2791Q	ENSP00000297405:H2861Q	H	-	3	2	CSMD3	113377269	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	4.926000	0.63433	1.235000	0.43724	0.655000	0.94253	CAC		0.383	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		9	14	1	0	0.0692343	1	0.0696853	9	14				
SLC39A12	221074	broad.mit.edu	37	10	18331714	18331714	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr10:18331714G>T	ENST00000377369.2	+	13	2301	c.2028G>T	c.(2026-2028)tgG>tgT	p.W676C	SLC39A12_ENST00000377374.4_Missense_Mutation_p.W639C|SLC39A12_ENST00000377371.3_Missense_Mutation_p.W675C|SLC39A12_ENST00000539911.1_Missense_Mutation_p.W542C	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	676					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCCTAGGTTGGCTTTCTCTCC	0.333																																						ENST00000377369.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(2026-2028)tgG>tgT		solute carrier family 39 (zinc transporter), member 12							103.0	99.0	101.0					10																	18331714		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18331714G>T		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.2028G>T	10.37:g.18331714G>T	ENSP00000366586:p.Trp676Cys					SLC39A12_ENST00000377371.3_Missense_Mutation_p.W675C|SLC39A12_ENST00000377374.4_Missense_Mutation_p.W639C|SLC39A12_ENST00000539911.1_Missense_Mutation_p.W542C	p.W676C	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN			13	2301	+			676					B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.2028G>T	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093515	0.76756	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.64527	0.2606	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.62329	-0.6877	10	0.62326	D	0.03	-6.6362	20.5407	0.99260	0.0:0.0:1.0:0.0	.	675;676;639	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	C	676;639;675;542;596	ENSP00000366586:W676C;ENSP00000366591:W639C;ENSP00000366588:W675C;ENSP00000440445:W542C	ENSP00000366586:W676C	W	+	3	0	SLC39A12	18371720	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.537000	0.82033	2.865000	0.98341	0.655000	0.94253	TGG		0.333	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		18	33	1	0	1.02788e-11	1	1.21227e-11	18	33				
ADAMTS3	9508	broad.mit.edu	37	4	73205406	73205406	+	Silent	SNP	C	C	A	rs375370429		TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr4:73205406C>A	ENST00000286657.4	-	5	702	c.666G>T	c.(664-666)tcG>tcT	p.S222S		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	222					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S222S(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTTCCAGGTCCGACTCTAATA	0.453																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			1	Substitution - coding silent(1)	p.S222S(1)	large_intestine(1)	NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(664-666)tcG>tcT		ADAM metallopeptidase with thrombospondin type 1 motif, 3							128.0	129.0	128.0					4																	73205406		2203	4300	6503	SO:0001819	synonymous_variant	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73205406C>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.666G>T	4.37:g.73205406C>A							p.S222S	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		5	702	-			222					A1L3U9|Q9BXZ8	Silent	SNP	ENST00000286657.4	37	c.666G>T	CCDS3553.1																																																																																				0.453	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			57	107	1	0	4.96213e-28	1	6.87578e-28	57	107				
FBN1	2200	broad.mit.edu	37	15	48905287	48905287	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr15:48905287G>T	ENST00000316623.5	-	3	622	c.167C>A	c.(166-168)cCc>cAc	p.P56H		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	56					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACAGACATTGGGTCTAAAACA	0.348																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(166-168)cCc>cAc		fibrillin 1							108.0	108.0	108.0					15																	48905287		2197	4296	6493	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48905287G>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.167C>A	15.37:g.48905287G>T	ENSP00000325527:p.Pro56His						p.P56H	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	3	622	-		all_lung(180;0.00279)	56					B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.167C>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657982	0.88154	.	.	ENSG00000166147	ENST00000316623;ENST00000544030;ENST00000537463	D;T	0.82433	-1.61;0.54	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.87426	0.6174	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88741	0.3243	10	0.87932	D	0	.	18.742	0.91777	0.0:0.0:1.0:0.0	.	56	P35555	FBN1_HUMAN	H	56	ENSP00000325527:P56H;ENSP00000440294:P56H	ENSP00000325527:P56H	P	-	2	0	FBN1	46692579	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.111000	0.94308	2.662000	0.90505	0.591000	0.81541	CCC		0.348	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			32	40	1	0	7.11191e-15	1	8.7553e-15	32	40				
PIK3C2G	5288	broad.mit.edu	37	12	18524216	18524216	+	Silent	SNP	G	G	T	rs183012585	byFrequency	TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr12:18524216G>T	ENST00000266497.5	+	11	1766	c.1728G>T	c.(1726-1728)gcG>gcT	p.A576A	PIK3C2G_ENST00000433979.1_Silent_p.A576A|PIK3C2G_ENST00000538779.1_Silent_p.A617A			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	576	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|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)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATTTACTGGCGTGGACTTGTC	0.368																																						ENST00000433979.1																			0				breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(1726-1728)gcG>gcT		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma							86.0	88.0	87.0					12																	18524216		1853	4100	5953	SO:0001819	synonymous_variant	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18524216G>T	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.1728G>T	12.37:g.18524216G>T						PIK3C2G_ENST00000266497.5_Silent_p.A576A|PIK3C2G_ENST00000538779.1_Silent_p.A617A	p.A576A	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN			12	1844	+		Hepatocellular(102;0.194)	576					A1L3U0	Silent	SNP	ENST00000266497.5	37	c.1728G>T	CCDS44839.1																																																																																				0.368	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		14	34	1	0	7.93312e-07	1	8.72361e-07	14	34				
SLC13A3	64849	broad.mit.edu	37	20	45239229	45239229	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr20:45239229C>T	ENST00000279027.4	-	3	415	c.397G>A	c.(397-399)Gtg>Atg	p.V133M	SLC13A3_ENST00000417157.2_Missense_Mutation_p.V86M|SLC13A3_ENST00000396360.1_Missense_Mutation_p.V86M|SLC13A3_ENST00000435032.1_De_novo_Start_OutOfFrame|SLC13A3_ENST00000472148.1_Missense_Mutation_p.V86M|SLC13A3_ENST00000339636.3_Missense_Mutation_p.V133M|SLC13A3_ENST00000372121.1_Missense_Mutation_p.V133M|SLC13A3_ENST00000495082.1_Missense_Mutation_p.V86M|SLC13A3_ENST00000413164.2_Missense_Mutation_p.V133M|SLC13A3_ENST00000290317.5_Missense_Mutation_p.V86M	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	133					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GAGGTGGTCACCATCATCCCC	0.557																																						ENST00000435032.1																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31								solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	Succinic acid(DB00139)						143.0	124.0	130.0					20																	45239229		2203	4300	6503	SO:0001583	missense	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45239229C>T	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.397G>A	20.37:g.45239229C>T	ENSP00000279027:p.Val133Met					SLC13A3_ENST00000495082.1_Missense_Mutation_p.V86M|SLC13A3_ENST00000339636.3_Missense_Mutation_p.V133M|SLC13A3_ENST00000472148.1_Missense_Mutation_p.V86M|SLC13A3_ENST00000290317.5_Missense_Mutation_p.V86M|SLC13A3_ENST00000372121.1_Missense_Mutation_p.V133M|SLC13A3_ENST00000279027.4_Missense_Mutation_p.V133M|SLC13A3_ENST00000413164.2_Missense_Mutation_p.V133M|SLC13A3_ENST00000396360.1_Missense_Mutation_p.V86M|SLC13A3_ENST00000417157.2_Missense_Mutation_p.V86M				Q8WWT9	S13A3_HUMAN			0	434	-		Myeloproliferative disorder(115;0.0122)						B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Translation_Start_Site	SNP	ENST00000279027.4	37		CCDS13400.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.861302	0.32884	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082;ENST00000468915;ENST00000420568;ENST00000372121;ENST00000417157;ENST00000339636	T;T;T;T;T;T;T;T;T;T;T	0.03272	3.99;3.99;3.99;3.99;3.99;3.99;3.99;3.99;3.99;3.99;3.99	5.63	1.34	0.21922	.	0.598474	0.17705	N	0.164791	T	0.02342	0.0072	N	0.13140	0.3	0.39608	D	0.969847	B;B;B;B;B	0.25048	0.117;0.004;0.004;0.116;0.005	B;B;B;B;B	0.32677	0.15;0.017;0.034;0.079;0.044	T	0.51818	-0.8657	10	0.38643	T	0.18	-12.8064	2.0776	0.03628	0.1387:0.2917:0.3603:0.2093	.	133;86;86;86;133	B4DIR8;Q8WWT9-3;F6WI18;C9J4A3;Q8WWT9	.;.;.;.;S13A3_HUMAN	M	86;86;133;86;133;86;86;96;133;86;133	ENSP00000290317:V86M;ENSP00000379648:V86M;ENSP00000279027:V133M;ENSP00000420177:V86M;ENSP00000415852:V133M;ENSP00000419621:V86M;ENSP00000417784:V86M;ENSP00000395095:V96M;ENSP00000361193:V133M;ENSP00000397955:V86M;ENSP00000344912:V133M	ENSP00000279027:V133M	V	-	1	0	SLC13A3	44672636	0.769000	0.28531	1.000000	0.80357	0.997000	0.91878	-0.122000	0.10627	0.368000	0.24481	0.563000	0.77884	GTG		0.557	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			43	88	0	0	0	1	0	43	88				
PIEZO2	63895	broad.mit.edu	37	18	10672720	10672720	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr18:10672720C>A	ENST00000503781.3	-	51	7972	c.7973G>T	c.(7972-7974)aGt>aTt	p.S2658I	PIEZO2_ENST00000580640.1_Missense_Mutation_p.S2683I|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000302079.6_Missense_Mutation_p.S2595I|PIEZO2_ENST00000285141.4_Missense_Mutation_p.S450I|PIEZO2_ENST00000538948.1_Missense_Mutation_p.S615I	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2658					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										ACTTGGGGGACTGACTTTGTC	0.453																																						ENST00000302079.6																			0											c.(7783-7785)aGt>aTt		piezo-type mechanosensitive ion channel component 2							125.0	119.0	121.0					18																	10672720		2203	4300	6503	SO:0001583	missense	63895					integral to membrane	ion channel activity	g.chr18:10672720C>A	AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.7973G>T	18.37:g.10672720C>A	ENSP00000421377:p.Ser2658Ile					PIEZO2_ENST00000285141.4_Missense_Mutation_p.S450I|PIEZO2_ENST00000580640.1_Missense_Mutation_p.S2683I|PIEZO2_ENST00000503781.3_Missense_Mutation_p.S2658I|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000538948.1_Missense_Mutation_p.S615I	p.S2595I			Q9H5I5	PIEZ2_HUMAN			50	7783	-			2658					B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	ENST00000503781.3	37	c.7784G>T		.	.	.	.	.	.	.	.	.	.	C	26.6	4.753912	0.89843	.	.	ENSG00000154864	ENST00000503781;ENST00000302079;ENST00000538948;ENST00000285141	T;T	0.74002	-0.8;-0.8	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.69823	2.125	0.53688	D	0.999976	D	0.89917	1.0	D	0.87578	0.998	T	0.80600	-0.1310	10	0.22706	T	0.39	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	552	D6RFZ0	.	I	552;2658;615;450	ENSP00000443129:S615I;ENSP00000285141:S450I	ENSP00000285141:S450I	S	-	2	0	FAM38B	10662720	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	7.742000	0.85008	2.894000	0.99253	0.655000	0.94253	AGT		0.453	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		61	157	1	0	2.50483e-33	1	3.53421e-33	61	157				
MYH1	4619	broad.mit.edu	37	17	10400464	10400464	+	Silent	SNP	G	G	C	rs61730796	byFrequency	TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:10400464G>C	ENST00000226207.5	-	33	4672	c.4578C>G	c.(4576-4578)cgC>cgG	p.R1526R	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1526					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R1526R(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTTCATGGATGCGCTTTCCTC	0.378																																						ENST00000226207.5																			1	Substitution - coding silent(1)	p.R1526R(1)	lung(1)	NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(4576-4578)cgC>cgG		myosin, heavy chain 1, skeletal muscle, adult							133.0	131.0	132.0					17																	10400464		2203	4300	6503	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10400464G>C		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4578C>G	17.37:g.10400464G>C						CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.R1526R	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			33	4672	-			1526					Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.4578C>G	CCDS11155.1																																																																																				0.378	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		6	45	0	0	0	1	0	6	45				
AFF4	27125	broad.mit.edu	37	5	132228812	132228812	+	Splice_Site	SNP	T	T	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:132228812T>C	ENST00000265343.5	-	12	2687		c.e12-2		AFF4_ENST00000378595.3_Splice_Site	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4						spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATCTTCATTCTAGATGAAAAA	0.428																																					Ovarian(126;889 1733 2942 10745 11605)	ENST00000265343.5																		SEPT8/AFF4(2)	0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43						c.e12-2		AF4/FMR2 family, member 4							237.0	233.0	234.0					5																	132228812		2203	4300	6503	SO:0001630	splice_region_variant	27125				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:132228812T>C	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.2308-2A>G	5.37:g.132228812T>C						AFF4_ENST00000378595.3_Splice_Site		NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		12	2687	-		all_cancers(142;0.145)|Breast(839;0.198)						B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Splice_Site	SNP	ENST00000265343.5	37		CCDS4164.1	.	.	.	.	.	.	.	.	.	.	T	19.25	3.791491	0.70452	.	.	ENSG00000072364	ENST00000265343;ENST00000378595	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7575	0.62946	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	AFF4	132256711	1.000000	0.71417	0.986000	0.45419	0.787000	0.44495	6.184000	0.72008	2.182000	0.69389	0.460000	0.39030	.		0.428	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423	Intron	99	175	0	0	0	1	0	99	175				
TYR	7299	broad.mit.edu	37	11	88911936	88911936	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:88911936G>T	ENST00000263321.5	+	1	1317	c.815G>T	c.(814-816)tGg>tTg	p.W272L	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	272			W -> C (in OCA1A). {ECO:0000269|PubMed:10987646}.		cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	TTCTCCTCTTGGCAGGTAAGA	0.458																																						ENST00000263321.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(814-816)tGg>tTg		tyrosinase	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						90.0	75.0	80.0					11																	88911936		2201	4299	6500	SO:0001583	missense	7299				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88911936G>T	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.815G>T	11.37:g.88911936G>T	ENSP00000263321:p.Trp272Leu					TYR_ENST00000526139.1_3'UTR	p.W272L	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN			1	1317	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	272		W -> C (in OCA1A).			Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.815G>T	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754395	0.89843	.	.	ENSG00000077498	ENST00000263321	D	0.98762	-5.12	6.07	6.07	0.98685	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.000000	0.85682	D	0.000000	D	0.99456	0.9807	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98614	1.0664	9	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	272	P14679	TYRO_HUMAN	L	272	ENSP00000263321:W272L	.	W	+	2	0	TYR	88551584	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.357000	0.97099	2.885000	0.99019	0.655000	0.94253	TGG		0.458	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		17	44	1	0	1.99824e-07	1	2.24529e-07	17	44				
DNAH7	56171	broad.mit.edu	37	2	196825389	196825389	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:196825389G>A	ENST00000312428.6	-	18	2586	c.2486C>T	c.(2485-2487)tCa>tTa	p.S829L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	829	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTCCACCTTTGATCTTACTTT	0.418																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(2485-2487)tCa>tTa		dynein, axonemal, heavy chain 7							162.0	159.0	160.0					2																	196825389		1903	4121	6024	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196825389G>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2486C>T	2.37:g.196825389G>A	ENSP00000311273:p.Ser829Leu						p.S829L	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			18	2586	-			829			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.2486C>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	2.958	-0.215171	0.06101	.	.	ENSG00000118997	ENST00000312428	T	0.61627	0.09	5.74	5.74	0.90152	Dynein heavy chain, domain-2 (1);	0.613985	0.16269	N	0.221857	T	0.51160	0.1658	L	0.40543	1.245	0.20821	N	0.999849	B	0.06786	0.001	B	0.09377	0.004	T	0.33929	-0.9849	10	0.30078	T	0.28	.	16.8712	0.86041	0.0:0.1279:0.8721:0.0	.	829	Q8WXX0	DYH7_HUMAN	L	829	ENSP00000311273:S829L	ENSP00000311273:S829L	S	-	2	0	DNAH7	196533634	0.373000	0.25073	0.008000	0.14137	0.040000	0.13550	3.326000	0.52037	2.708000	0.92522	0.650000	0.86243	TCA		0.418	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		48	129	0	0	0	1	0	48	129				
TNS3	64759	broad.mit.edu	37	7	47408917	47408917	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr7:47408917C>A	ENST00000398879.1	-	17	1692	c.1326G>T	c.(1324-1326)aaG>aaT	p.K442N	TNS3_ENST00000355730.3_Intron|TNS3_ENST00000311160.9_Missense_Mutation_p.K442N			Q68CZ2	TENS3_HUMAN	tensin 3	442					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CAGTCATTTCCTTGAGGGAGC	0.602																																						ENST00000398879.1																			0				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(1324-1326)aaG>aaT		tensin 3							79.0	84.0	82.0					7																	47408917		2095	4225	6320	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47408917C>A	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.1326G>T	7.37:g.47408917C>A	ENSP00000381854:p.Lys442Asn					TNS3_ENST00000311160.9_Missense_Mutation_p.K442N|TNS3_ENST00000355730.3_Intron	p.K442N			Q68CZ2	TENS3_HUMAN			17	1692	-			442					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.1326G>T	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	C	10.01	1.234365	0.22626	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000457718;ENST00000450444	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.45	4.55	0.56014	.	0.068286	0.56097	D	0.000029	T	0.24624	0.0597	L	0.57536	1.79	0.80722	D	1	D	0.56521	0.976	P	0.44860	0.462	T	0.02391	-1.1166	10	0.51188	T	0.08	-20.3069	11.134	0.48365	0.0:0.9075:0.0:0.0925	.	442	Q68CZ2	TENS3_HUMAN	N	442;552;442;545;531	ENSP00000312143:K442N;ENSP00000381854:K442N;ENSP00000414358:K545N;ENSP00000396914:K531N	ENSP00000312143:K442N	K	-	3	2	TNS3	47375442	0.996000	0.38824	0.964000	0.40570	0.345000	0.29048	1.063000	0.30567	1.258000	0.44101	0.655000	0.94253	AAG		0.602	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		32	92	1	0	1.74807e-11	1	2.05381e-11	32	92				
PLCE1	51196	broad.mit.edu	37	10	96006283	96006283	+	Nonsense_Mutation	SNP	G	G	T	rs376113551		TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr10:96006283G>T	ENST00000371380.3	+	7	3236	c.3001G>T	c.(3001-3003)Gga>Tga	p.G1001*	PLCE1_ENST00000260766.3_Nonsense_Mutation_p.G1001*|PLCE1_ENST00000371375.1_Nonsense_Mutation_p.G693*|PLCE1_ENST00000371385.3_Nonsense_Mutation_p.G693*			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1001					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GCTCTTCAGCGGATTATTGGA	0.473																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(3001-3003)Gga>Tga		phospholipase C, epsilon 1							94.0	91.0	92.0					10																	96006283		1945	4157	6102	SO:0001587	stop_gained	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96006283G>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.3001G>T	10.37:g.96006283G>T	ENSP00000360431:p.Gly1001*					PLCE1_ENST00000371380.2_Nonsense_Mutation_p.G1001*|PLCE1_ENST00000371375.1_Nonsense_Mutation_p.G693*|PLCE1_ENST00000371385.3_Nonsense_Mutation_p.G693*	p.G1001*	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			8	3635	+		Colorectal(252;0.0458)	1001					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Nonsense_Mutation	SNP	ENST00000371380.3	37	c.3001G>T	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	47	13.376181	0.99738	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	.	.	.	5.89	5.89	0.94794	.	0.121437	0.53938	D	0.000041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.3137	0.98647	0.0:0.0:1.0:0.0	.	.	.	.	X	1001;1001;693;693	.	ENSP00000260766:G1001X	G	+	1	0	PLCE1	95996273	1.000000	0.71417	0.989000	0.46669	0.863000	0.49368	9.434000	0.97515	2.814000	0.96858	0.585000	0.79938	GGA		0.473	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		45	87	1	0	3.54561e-26	1	4.8693e-26	45	87				
ELMO1	9844	broad.mit.edu	37	7	36910057	36910057	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr7:36910057C>A	ENST00000310758.4	-	20	2493	c.1846G>T	c.(1846-1848)Gtg>Ttg	p.V616L	ELMO1_ENST00000396040.2_Missense_Mutation_p.V136L|ELMO1_ENST00000396045.3_Missense_Mutation_p.V136L|ELMO1_ENST00000341056.3_Missense_Mutation_p.V318L|ELMO1_ENST00000442504.1_Missense_Mutation_p.V616L|ELMO1_ENST00000448602.1_Missense_Mutation_p.V616L	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	616	PH.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CCCGTCACCACGGCTTTGATA	0.398																																						ENST00000310758.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(1846-1848)Gtg>Ttg		engulfment and cell motility 1							148.0	135.0	139.0					7																	36910057		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:36910057C>A	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1846G>T	7.37:g.36910057C>A	ENSP00000312185:p.Val616Leu					ELMO1_ENST00000396040.2_Missense_Mutation_p.V136L|ELMO1_ENST00000442504.1_Missense_Mutation_p.V616L|ELMO1_ENST00000396045.3_Missense_Mutation_p.V136L|ELMO1_ENST00000341056.3_Missense_Mutation_p.V318L|ELMO1_ENST00000448602.1_Missense_Mutation_p.V616L	p.V616L	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN			20	2493	-			616			PH.		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.1846G>T	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	C	7.771	0.707396	0.15239	.	.	ENSG00000155849	ENST00000341056;ENST00000396045;ENST00000310758;ENST00000361912;ENST00000396040;ENST00000442504;ENST00000448602	T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	5.6	4.67	0.58626	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.063724	0.64402	D	0.000008	T	0.43478	0.1249	N	0.11255	0.115	0.44719	D	0.997714	B	0.02656	0.0	B	0.01281	0.0	T	0.40059	-0.9583	10	0.06757	T	0.87	.	7.1448	0.25577	0.0:0.7094:0.1467:0.1439	.	616	Q92556	ELMO1_HUMAN	L	318;136;616;520;136;616;616	ENSP00000342142:V318L;ENSP00000379360:V136L;ENSP00000312185:V616L;ENSP00000379355:V136L;ENSP00000406952:V616L;ENSP00000394458:V616L	ENSP00000312185:V616L	V	-	1	0	ELMO1	36876582	0.978000	0.34361	0.995000	0.50966	0.991000	0.79684	2.443000	0.44881	2.814000	0.96858	0.655000	0.94253	GTG		0.398	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		39	56	1	0	7.63091e-17	1	9.78403e-17	39	56				
OTOL1	131149	broad.mit.edu	37	3	161214758	161214758	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:161214758G>T	ENST00000327928.4	+	1	163	c.163G>T	c.(163-165)Gaa>Taa	p.E55*		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	55						collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TCCAGAAGAAGAAGAAACCCT	0.468																																						ENST00000327928.4																			0				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						c.(163-165)Gaa>Taa		otolin 1							100.0	97.0	98.0					3																	161214758		1854	4102	5956	SO:0001587	stop_gained	131149					collagen		g.chr3:161214758G>T		CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 15"""		"""otolin 1 homolog (zebrafish)"""			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.163G>T	3.37:g.161214758G>T	ENSP00000330808:p.Glu55*						p.E55*	NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN			1	163	+			55						Nonsense_Mutation	SNP	ENST00000327928.4	37	c.163G>T	CCDS46948.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281579	0.40394	.	.	ENSG00000182447	ENST00000327928	.	.	.	5.66	1.81	0.25067	.	0.619061	0.17589	N	0.168834	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	6.9293	0.24432	0.1512:0.2705:0.5783:0.0	.	.	.	.	X	55	.	ENSP00000330808:E55X	E	+	1	0	OTOL1	162697452	0.996000	0.38824	0.006000	0.13384	0.013000	0.08279	1.038000	0.30254	0.055000	0.16094	0.650000	0.86243	GAA		0.468	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1	NM_001080440		12	129	1	0	0.000978159	1	0.0010075	12	129				
PNPLA7	375775	broad.mit.edu	37	9	140356757	140356757	+	Silent	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:140356757C>T	ENST00000277531.4	-	30	3630	c.3444G>A	c.(3442-3444)acG>acA	p.T1148T	PNPLA7_ENST00000492278.1_5'UTR|NSMF_ENST00000371473.3_5'Flank|NSMF_ENST00000437259.1_5'Flank|NSMF_ENST00000371475.3_5'Flank|PNPLA7_ENST00000406427.1_Silent_p.T1173T|NSMF_ENST00000265663.7_5'Flank|NSMF_ENST00000392812.4_5'Flank|PNPLA7_ENST00000371457.1_Silent_p.T754T|NSMF_ENST00000371474.3_5'Flank	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1148					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		AGGCCAGGCGCGTCTGAATCT	0.667																																						ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(3517-3519)acG>acA		patatin-like phospholipase domain containing 7							64.0	63.0	64.0					9																	140356757		2203	4298	6501	SO:0001819	synonymous_variant	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140356757C>T	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.3444G>A	9.37:g.140356757C>T						PNPLA7_ENST00000371457.1_Silent_p.T754T|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000277531.4_Silent_p.T1148T	p.T1173T	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	31	3855	-	all_cancers(76;0.126)		1148					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Silent	SNP	ENST00000277531.4	37	c.3519G>A	CCDS7045.1																																																																																				0.667	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		34	77	0	0	0	1	0	34	77				
BCO2	83875	broad.mit.edu	37	11	112050058	112050058	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:112050058G>A	ENST00000357685.5	+	2	281	c.146G>A	c.(145-147)cGg>cAg	p.R49Q	BCO2_ENST00000531169.1_Missense_Mutation_p.R15Q|BCO2_ENST00000438022.1_Missense_Mutation_p.R15Q|BCO2_ENST00000361053.4_Missense_Mutation_p.R49Q|BCO2_ENST00000526088.1_Missense_Mutation_p.R15Q|SDHD_ENST00000525468.1_Intron|SDHD_ENST00000532699.1_Intron|BCO2_ENST00000532593.1_Intron|AP002884.3_ENST00000532612.1_Missense_Mutation_p.R20Q|BCO2_ENST00000393032.2_Missense_Mutation_p.R15Q			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	49					carotene catabolic process (GO:0016121)|carotene metabolic process (GO:0016119)|carotenoid metabolic process (GO:0016116)|oxidation-reduction process (GO:0055114)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						GGGCAGTGTCGGGGTCTGCCA	0.488																																					GBM(177;1916 2099 21049 29541 39946)	ENST00000357685.5																			0				NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						c.(145-147)cGg>cAg		beta-carotene oxygenase 2							82.0	84.0	84.0					11																	112050058		2201	4297	6498	SO:0001583	missense	83875				carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:112050058G>A	AJ290393	CCDS8358.2, CCDS41716.1, CCDS58181.1, CCDS58182.1, CCDS58183.1	11q23.1	2014-05-12	2008-04-15	2008-04-15	ENSG00000197580	ENSG00000197580	1.13.11.71		18503	protein-coding gene	gene with protein product	"""beta-carotene 9',10' oxygenase"", ""carotenoid-9',10'-cleaving dioxygenase"""	611740	"""beta-carotene dioxygenase 2"""	BCDO2		11278918, 15983114, 15949678	Standard	NM_031938		Approved	FLJ34464, B-DIOX-II	uc001pnf.3	Q9BYV7	OTTHUMG00000167155	ENST00000357685.5:c.146G>A	11.37:g.112050058G>A	ENSP00000350314:p.Arg49Gln					BCO2_ENST00000531169.1_Missense_Mutation_p.R15Q|BCO2_ENST00000393032.2_Missense_Mutation_p.R15Q|BCO2_ENST00000361053.4_Missense_Mutation_p.R49Q|SDHD_ENST00000532699.1_Intron|BCO2_ENST00000526088.1_Missense_Mutation_p.R15Q|BCO2_ENST00000532593.1_Intron|SDHD_ENST00000532612.1_3'UTR|BCO2_ENST00000438022.1_Missense_Mutation_p.R15Q	p.R49Q			Q9BYV7	BCDO2_HUMAN			2	281	+			49					B0YIX5|B4DNC3|E9PBI8|E9PJJ1|Q8IUS0|Q96JC8|Q96JY5	Missense_Mutation	SNP	ENST00000357685.5	37	c.146G>A	CCDS8358.2	.	.	.	.	.	.	.	.	.	.	G	10.65	1.410363	0.25465	.	.	ENSG00000197580	ENST00000357685;ENST00000393032;ENST00000361053;ENST00000438022;ENST00000526088;ENST00000531169	D;D;D;D;D;D	0.94897	-3.55;-3.54;-3.53;-3.54;-3.54;-3.54	5.27	-2.93	0.05598	.	4.947780	0.00166	N	0.000000	D	0.83640	0.5298	N	0.08118	0	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.003	B;B;B	0.04013	0.001;0.0;0.001	T	0.78048	-0.2356	10	0.10636	T	0.68	-7.6393	1.8112	0.03091	0.323:0.1552:0.3709:0.1508	.	26;49;49	C9JEZ9;E9PBI8;Q9BYV7	.;.;BCDO2_HUMAN	Q	49;15;49;15;15;15	ENSP00000350314:R49Q;ENSP00000376752:R15Q;ENSP00000354338:R49Q;ENSP00000414843:R15Q;ENSP00000436615:R15Q;ENSP00000437053:R15Q	ENSP00000350314:R49Q	R	+	2	0	BCO2	111555268	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	0.237000	0.17985	-0.566000	0.06054	-0.373000	0.07131	CGG		0.488	BCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256570.3	NM_001037290		5	95	0	0	0	1	0	5	95				
CTC1	80169	broad.mit.edu	37	17	8140698	8140698	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:8140698C>T	ENST00000315684.8	-	5	794	c.787G>A	c.(787-789)Gtg>Atg	p.V263M	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	263					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CTCACCTGCACGATGATGGAC	0.488																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(787-789)Gtg>Atg		CTS telomere maintenance complex component 1							100.0	99.0	100.0					17																	8140698		2017	4168	6185	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8140698C>T	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.787G>A	17.37:g.8140698C>T	ENSP00000313759:p.Val263Met					CTC1_ENST00000581671.1_5'UTR	p.V263M	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			5	794	-			263					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.787G>A	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648684	0.47258	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.88664	-2.41;-2.41	4.82	4.82	0.62117	.	0.000000	0.64402	D	0.000004	D	0.93158	0.7821	M	0.65975	2.015	0.42466	D	0.992803	D	0.89917	1.0	D	0.91635	0.999	D	0.93579	0.6911	10	0.87932	D	0	-15.0308	13.5959	0.61988	0.0:1.0:0.0:0.0	.	263	Q2NKJ3	CTC1_HUMAN	M	263;228	ENSP00000313759:V263M;ENSP00000396018:V228M	ENSP00000313759:V263M	V	-	1	0	CTC1	8081423	0.737000	0.28175	0.777000	0.31699	0.036000	0.12997	3.521000	0.53472	2.663000	0.90544	0.400000	0.26472	GTG		0.488	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		21	38	0	0	0	1	0	21	38				
CES5A	221223	broad.mit.edu	37	16	55895399	55895399	+	Silent	SNP	G	G	A	rs145972420		TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr16:55895399G>A	ENST00000290567.9	-	7	961	c.840C>T	c.(838-840)aaC>aaT	p.N280N	CES5A_ENST00000521992.1_Silent_p.N309N|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000518005.1_Silent_p.N174N|CES5A_ENST00000520435.1_Silent_p.N250N|CES5A_ENST00000319165.9_Silent_p.N280N	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	280						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTGACGCATTGTTACCACAGA	0.502																																						ENST00000521992.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(925-927)aaC>aaT		carboxylesterase 5A		G	,,	0,4396		0,0,2198	58.0	52.0	54.0		840,927,840	3.0	0.2	16	dbSNP_134	54	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	CES5A	NM_001143685.1,NM_001190158.1,NM_145024.2	,,	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	,,	280/576,309/605,280/526	55895399	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	221223					extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55895399G>A	AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.840C>T	16.37:g.55895399G>A						CES5A_ENST00000518005.1_Silent_p.N174N|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000520435.1_Silent_p.N250N|CES5A_ENST00000319165.9_Silent_p.N280N|CES5A_ENST00000290567.9_Silent_p.N280N	p.N309N	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN			8	1072	-			280					B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Silent	SNP	ENST00000290567.9	37	c.927C>T	CCDS45490.1																																																																																				0.502	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		11	39	0	0	0	1	0	11	39				
NME7	29922	broad.mit.edu	37	1	169279307	169279307	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:169279307A>T	ENST00000367811.3	-	4	546	c.290T>A	c.(289-291)cTa>cAa	p.L97Q	RP4-800F24.1_ENST00000432081.1_RNA|NME7_ENST00000469474.1_5'UTR|NME7_ENST00000472647.1_Missense_Mutation_p.L61Q	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	97					brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					TGGTTTAATTAGGGCTAGCGT	0.299																																						ENST00000367811.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16						c.(289-291)cTa>cAa		NME/NM23 family member 7							80.0	83.0	82.0					1																	169279307		2200	4287	6487	SO:0001583	missense	29922				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	g.chr1:169279307A>T	AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156			20461	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 67"""	613465	"""non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"""			19852809	Standard	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.290T>A	1.37:g.169279307A>T	ENSP00000356785:p.Leu97Gln					NME7_ENST00000469474.1_5'UTR|NME7_ENST00000472647.1_Missense_Mutation_p.L61Q	p.L97Q	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN			4	546	-	all_hematologic(923;0.208)		97					A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Missense_Mutation	SNP	ENST00000367811.3	37	c.290T>A	CCDS1277.1	.	.	.	.	.	.	.	.	.	.	A	18.49	3.636000	0.67130	.	.	ENSG00000143156	ENST00000472647;ENST00000367811	T;T	0.80909	-1.43;-1.43	5.58	5.58	0.84498	.	0.071226	0.64402	D	0.000017	D	0.90414	0.6999	M	0.93939	3.475	0.48762	D	0.999703	D;D	0.76494	0.999;0.994	D;D	0.79784	0.993;0.974	D	0.93119	0.6523	9	0.87932	D	0	-10.3648	13.1292	0.59371	1.0:0.0:0.0:0.0	.	101;97	Q59GR0;Q9Y5B8	.;NDK7_HUMAN	Q	61;97	ENSP00000433341:L61Q;ENSP00000356785:L97Q	ENSP00000356785:L97Q	L	-	2	0	NME7	167545931	1.000000	0.71417	0.996000	0.52242	0.808000	0.45660	4.929000	0.63455	2.125000	0.65367	0.528000	0.53228	CTA		0.299	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083688.1	NM_013330		16	36	0	0	0	1	0	16	36				
PCDHA11	56138	broad.mit.edu	37	5	140249505	140249505	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:140249505G>A	ENST00000398640.2	+	1	817	c.817G>A	c.(817-819)Gtc>Atc	p.V273I	PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	273	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACGAAGGAGTCAATGGAGA	0.393																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(817-819)Gtc>Atc									35.0	35.0	35.0					5																	140249505		1933	4147	6080	SO:0001583	missense	56138							g.chr5:140249505G>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.817G>A	5.37:g.140249505G>A	ENSP00000381636:p.Val273Ile					PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron	p.V273I	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	817	+								B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.817G>A	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	G	0.516	-0.864223	0.02590	.	.	ENSG00000249158	ENST00000398640	T	0.52057	0.68	5.71	0.192	0.15134	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.20210	0.0486	N	0.05383	-0.06	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.14578	0.011;0.004	T	0.27226	-1.0080	9	0.07644	T	0.81	.	4.748	0.13047	0.4774:0.0:0.377:0.1455	.	273;273	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	I	273	ENSP00000381636:V273I	ENSP00000381636:V273I	V	+	1	0	PCDHA11	140229689	0.000000	0.05858	0.860000	0.33809	0.003000	0.03518	-3.863000	0.00347	0.076000	0.16826	-0.182000	0.12963	GTC		0.393	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		8	18	0	0	0	1	0	8	18				
TRPM2	7226	broad.mit.edu	37	21	45843586	45843586	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr21:45843586G>T	ENST00000397928.1	+	23	3965	c.3520G>T	c.(3520-3522)Gag>Tag	p.E1174*	TRPM2_ENST00000300481.9_Nonsense_Mutation_p.E1154*|TRPM2_ENST00000397932.2_Nonsense_Mutation_p.E1224*|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Nonsense_Mutation_p.E1174*|AP001065.2_ENST00000423310.1_RNA	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1174					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGGCTCCATGGAGCAGAGGTT	0.657																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(3520-3522)Gag>Tag		transient receptor potential cation channel, subfamily M, member 2							67.0	50.0	55.0					21																	45843586		2203	4300	6503	SO:0001587	stop_gained	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45843586G>T	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3520G>T	21.37:g.45843586G>T	ENSP00000381023:p.Glu1174*					TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Nonsense_Mutation_p.E1154*|TRPM2_ENST00000397932.2_Nonsense_Mutation_p.E1224*|TRPM2_ENST00000300482.5_Nonsense_Mutation_p.E1174*	p.E1174*	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			23	3965	+			1174					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Nonsense_Mutation	SNP	ENST00000397928.1	37	c.3520G>T	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	42	9.705865	0.99244	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	.	.	.	4.13	4.13	0.48395	.	0.708209	0.13141	N	0.410601	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-35.8809	16.8652	0.86027	0.0:0.0:1.0:0.0	.	.	.	.	X	1174;1174;1154;1224	.	ENSP00000300481:E1154X	E	+	1	0	TRPM2	44668014	1.000000	0.71417	0.985000	0.45067	0.981000	0.71138	3.111000	0.50360	2.265000	0.75225	0.460000	0.39030	GAG		0.657	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		12	19	1	0	0.0135373	1	0.0138054	12	19				
ZBED9	114821	broad.mit.edu	37	6	28554376	28554376	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr6:28554376A>T	ENST00000452236.2	-	1	736	c.119T>A	c.(118-120)cTa>cAa	p.L40Q	RP5-1186N24.3_ENST00000499525.1_RNA|SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ATTCCTACGTAGGGCTGATTC	0.517																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(118-120)cTa>cAa		SCAN domain containing 3							121.0	111.0	115.0					6																	28554376		2203	4300	6503	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28554376A>T																												ENST00000452236.2:c.119T>A	6.37:g.28554376A>T	ENSP00000395259:p.Leu40Gln					SCAND3_ENST00000530247.1_Intron	p.L40Q	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			1	736	-			40						Missense_Mutation	SNP	ENST00000452236.2	37	c.119T>A	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	A	9.725	1.160637	0.21454	.	.	ENSG00000232040	ENST00000452236	T	0.01854	4.6	3.33	-2.81	0.05805	.	.	.	.	.	T	0.00815	0.0027	L	0.49778	1.585	0.09310	N	1	P	0.39326	0.668	B	0.40329	0.326	T	0.41520	-0.9504	9	0.49607	T	0.09	.	1.2252	0.01932	0.2781:0.1573:0.102:0.4626	.	40	Q6R2W3	SCND3_HUMAN	Q	40	ENSP00000395259:L40Q	ENSP00000395259:L40Q	L	-	2	0	SCAND3	28662355	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.807000	0.04520	-0.686000	0.05170	0.460000	0.39030	CTA		0.517	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			14	95	0	0	0	1	0	14	95				
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933		TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr21:11058353T>C	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							20.0	18.0	19.0					21																	11058353		692	1589	2281			85319							g.chr21:11058353T>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058353T>C												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.343	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	73	0	0	0	1	0	3	73				
ZMIZ2	83637	broad.mit.edu	37	7	44805145	44805145	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr7:44805145T>C	ENST00000309315.4	+	16	2332	c.2209T>C	c.(2209-2211)Tca>Cca	p.S737P	ZMIZ2_ENST00000265346.7_Missense_Mutation_p.S711P|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.S737P|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.S679P|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.S705P	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	737	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCAGCCCCCCTCAGTCCCTGC	0.682																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2209-2211)Tca>Cca		zinc finger, MIZ-type containing 2							10.0	11.0	10.0					7																	44805145		1799	3978	5777	SO:0001583	missense	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44805145T>C	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2209T>C	7.37:g.44805145T>C	ENSP00000311778:p.Ser737Pro					ZMIZ2_ENST00000433667.1_Missense_Mutation_p.S705P|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.S737P|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.S679P|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.S711P	p.S737P	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			16	2332	+			737			Pro-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	c.2209T>C	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	T	10.81	1.454228	0.26161	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.33654	1.4;1.41;1.41;1.4;1.42	5.14	-0.151	0.13411	.	0.638340	0.14033	N	0.345991	T	0.29321	0.0730	L	0.55743	1.74	0.19300	N	0.999972	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.21415	-1.0246	10	0.36615	T	0.2	-2.8889	7.9236	0.29861	0.0:0.1877:0.5875:0.2248	.	711;737;679	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	P	679;737;737;705;711;740	ENSP00000409648:S679P;ENSP00000311778:S737P;ENSP00000414723:S737P;ENSP00000396601:S705P;ENSP00000265346:S711P	ENSP00000265346:S711P	S	+	1	0	ZMIZ2	44771670	0.063000	0.20901	0.024000	0.17045	0.831000	0.47069	0.832000	0.27490	-0.150000	0.11195	0.459000	0.35465	TCA		0.682	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		5	14	0	0	0	1	0	5	14				
KANK4	163782	broad.mit.edu	37	1	62740602	62740602	+	Silent	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:62740602G>A	ENST00000371153.4	-	3	552	c.174C>T	c.(172-174)caC>caT	p.H58H	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	58						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TGGCCCTTCTGTGGATAGGAA	0.522																																						ENST00000371153.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						c.(172-174)caC>caT		KN motif and ankyrin repeat domains 4							143.0	149.0	147.0					1																	62740602		2203	4300	6503	SO:0001819	synonymous_variant	163782							g.chr1:62740602G>A	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.174C>T	1.37:g.62740602G>A						KANK4_ENST00000354381.3_Intron	p.H58H	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN			3	552	-			58					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Silent	SNP	ENST00000371153.4	37	c.174C>T	CCDS620.1																																																																																				0.522	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		75	144	0	0	0	1	0	75	144				
OR5AK2	390181	broad.mit.edu	37	11	56756990	56756990	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:56756990T>C	ENST00000326855.2	+	1	644	c.602T>C	c.(601-603)gTc>gCc	p.V201A		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						CTACTTGTTGTCTTTGTGGGA	0.418																																						ENST00000326855.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(601-603)gTc>gCc		olfactory receptor, family 5, subfamily AK, member 2							292.0	259.0	270.0					11																	56756990		2201	4296	6497	SO:0001583	missense	390181				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56756990T>C	AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"""GPCR / Class A : Olfactory receptors"""	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.602T>C	11.37:g.56756990T>C	ENSP00000322784:p.Val201Ala						p.V201A	NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN			1	644	+			201					B2RNZ9	Missense_Mutation	SNP	ENST00000326855.2	37	c.602T>C	CCDS31538.1	.	.	.	.	.	.	.	.	.	.	T	0.142	-1.101268	0.01843	.	.	ENSG00000181273	ENST00000326855	T	0.00183	8.6	3.85	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.219439	0.22785	N	0.055674	T	0.00109	0.0003	N	0.11201	0.11	0.09310	N	1	B	0.20052	0.041	B	0.25405	0.06	T	0.08617	-1.0713	10	0.08381	T	0.77	-8.7318	11.9306	0.52845	0.0:0.0:0.0:1.0	.	201	Q8NH90	O5AK2_HUMAN	A	201	ENSP00000322784:V201A	ENSP00000322784:V201A	V	+	2	0	OR5AK2	56513566	0.000000	0.05858	0.294000	0.24946	0.037000	0.13140	-0.289000	0.08365	1.739000	0.51704	0.163000	0.16589	GTC		0.418	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1	NM_001005323		59	145	0	0	0	1	0	59	145				
MCM3AP	8888	broad.mit.edu	37	21	47700472	47700472	+	Silent	SNP	A	A	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr21:47700472A>G	ENST00000397708.1	-	4	1715	c.1461T>C	c.(1459-1461)gcT>gcC	p.A487A	MCM3AP_ENST00000291688.1_Silent_p.A487A			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	487	DNA primase.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CCTTCTTTCTAGCCAGGGCTG	0.378																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(1459-1461)gcT>gcC		minichromosome maintenance complex component 3 associated protein							68.0	72.0	70.0					21																	47700472		2203	4300	6503	SO:0001819	synonymous_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47700472A>G	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.1461T>C	21.37:g.47700472A>G						MCM3AP_ENST00000291688.1_Silent_p.A487A	p.A487A			O60318	MCM3A_HUMAN			4	1715	-	Breast(49;0.112)		487					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Silent	SNP	ENST00000397708.1	37	c.1461T>C	CCDS13734.1																																																																																				0.378	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		25	44	0	0	0	1	0	25	44				
SP140	11262	broad.mit.edu	37	2	231101947	231101947	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:231101947G>A	ENST00000392045.3	+	2	323	c.209G>A	c.(208-210)cGc>cAc	p.R70H	SP140_ENST00000350136.5_Missense_Mutation_p.R50H|SP140_ENST00000420434.3_Missense_Mutation_p.R70H|SP140_ENST00000486687.2_Missense_Mutation_p.R70H|SP140_ENST00000417495.3_Missense_Mutation_p.R70H|SP140_ENST00000544128.1_3'UTR|SP140_ENST00000343805.6_Missense_Mutation_p.R70H|SP140_ENST00000373645.3_Missense_Mutation_p.R70H	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	70	HSR. {ECO:0000255|PROSITE- ProRule:PRU00747}.				defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTCCGAGACCGCTCCTTCATC	0.433																																						ENST00000392045.3																			0				NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(208-210)cGc>cAc		SP140 nuclear body protein							75.0	75.0	75.0					2																	231101947		2203	4300	6503	SO:0001583	missense	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231101947G>A	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.209G>A	2.37:g.231101947G>A	ENSP00000375899:p.Arg70His					SP140_ENST00000420434.3_Missense_Mutation_p.R70H|SP140_ENST00000343805.6_Missense_Mutation_p.R70H|SP140_ENST00000417495.3_Missense_Mutation_p.R70H|SP140_ENST00000350136.5_Missense_Mutation_p.R50H|SP140_ENST00000544128.1_3'UTR|SP140_ENST00000373645.3_Missense_Mutation_p.R70H|SP140_ENST00000486687.2_Missense_Mutation_p.R70H	p.R70H	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	2	323	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	70			HSR.		E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	c.209G>A	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	G	5.829	0.337124	0.11013	.	.	ENSG00000079263	ENST00000537563;ENST00000486687;ENST00000392044;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434;ENST00000373645	D;D;D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37;-3.37;-3.37	3.76	-0.215	0.13157	Sp100 (2);	.	.	.	.	D	0.87557	0.6207	L	0.41236	1.265	0.09310	N	0.999999	B;B;B;P;P;P	0.45428	0.254;0.144;0.214;0.581;0.858;0.722	B;B;B;B;B;B	0.39562	0.1;0.057;0.061;0.17;0.303;0.225	T	0.78937	-0.2007	9	0.72032	D	0.01	-5.1124	6.123	0.20164	0.5188:0.0:0.4812:0.0	.	70;70;70;70;70;70	E7EUR5;E7ESH9;E9PFJ6;Q13342;E7EX75;Q6NSG4	.;.;.;LY10_HUMAN;.;.	H	70;70;70;50;70;70;70;70;70	ENSP00000440107:R70H;ENSP00000345846:R50H;ENSP00000375899:R70H;ENSP00000342096:R70H;ENSP00000398210:R70H;ENSP00000362749:R70H	ENSP00000342096:R70H	R	+	2	0	SP140	230810191	0.000000	0.05858	0.055000	0.19348	0.173000	0.22820	-0.956000	0.03865	-0.058000	0.13177	0.655000	0.94253	CGC		0.433	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		26	56	0	0	0	1	0	26	56				
TGS1	96764	broad.mit.edu	37	8	56699252	56699252	+	Silent	SNP	G	G	A	rs567189086	byFrequency	TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:56699252G>A	ENST00000260129.5	+	4	1272	c.795G>A	c.(793-795)tcG>tcA	p.S265S		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	265					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)	p.S265S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			TTGATGCCTCGCAAAGCTGTG	0.363													G|||	2	0.000399361	0.0	0.0	5008	,	,		22552	0.0		0.0	False		,,,				2504	0.002				Esophageal Squamous(34;275 823 4842 34837 48447)	ENST00000260129.5																			1	Substitution - coding silent(1)	p.S265S(1)	central_nervous_system(1)	breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(793-795)tcG>tcA		trimethylguanosine synthase 1							149.0	147.0	147.0					8																	56699252		2203	4300	6503	SO:0001819	synonymous_variant	96764				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity	g.chr8:56699252G>A	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.795G>A	8.37:g.56699252G>A							p.S265S	NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	Epithelial(17;0.00027)|all cancers(17;0.00251)		4	1272	+		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	265					A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Silent	SNP	ENST00000260129.5	37	c.795G>A	CCDS34894.1																																																																																				0.363	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	NM_024831		4	166	0	0	0	1	0	4	166				
PRDM11	56981	broad.mit.edu	37	11	45246018	45246018	+	Silent	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:45246018C>T	ENST00000530656.1	+	7	1095	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	PRDM11_ENST00000424263.2_Silent_p.I331I|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000263765.4_Silent_p.I365I|PRDM11_ENST00000528980.1_Intron			Q9NQV5	PRD11_HUMAN	PR domain containing 11	365							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CACTGGTCATCAGGAAAGTCC	0.527																																					NSCLC(118;1511 1736 6472 36603 43224)	ENST00000263765.4																			0				endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(1093-1095)atC>atT		PR domain containing 11							123.0	127.0	126.0					11																	45246018		2203	4299	6502	SO:0001819	synonymous_variant	56981							g.chr11:45246018C>T	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.1095C>T	11.37:g.45246018C>T						CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000530656.1_Silent_p.I365I|PRDM11_ENST00000424263.2_Silent_p.I331I	p.I365I			Q9NQV5	PRD11_HUMAN			8	1344	+			365					Q8N9F1	Silent	SNP	ENST00000530656.1	37	c.1095C>T																																																																																					0.527	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229		81	158	0	0	0	1	0	81	158				
FAM135B	51059	broad.mit.edu	37	8	139277993	139277993	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:139277993T>G	ENST00000395297.1	-	4	420	c.250A>C	c.(250-252)Aat>Cat	p.N84H		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	84										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACAGCATCATTTATGGGTACC	0.493										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(250-252)Aat>Cat		family with sequence similarity 135, member B							104.0	102.0	102.0					8																	139277993		1931	4155	6086	SO:0001583	missense	51059							g.chr8:139277993T>G	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.250A>C	8.37:g.139277993T>G	ENSP00000378710:p.Asn84His	HNSCC(54;0.14)					p.N84H	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		4	420	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		84					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.250A>C	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	T	17.13	3.311100	0.60414	.	.	ENSG00000147724	ENST00000395297;ENST00000160713	T	0.16073	2.37	5.92	4.77	0.60923	.	0.000000	0.64402	U	0.000003	T	0.35335	0.0928	M	0.79693	2.465	0.28272	N	0.924365	D	0.61080	0.989	P	0.57283	0.817	T	0.34378	-0.9831	10	0.62326	D	0.03	-14.6815	8.7742	0.34751	0.0:0.0849:0.0:0.9151	.	84	Q49AJ0	F135B_HUMAN	H	84	ENSP00000378710:N84H	ENSP00000160713:N84H	N	-	1	0	FAM135B	139347175	1.000000	0.71417	0.795000	0.32087	0.535000	0.34838	3.704000	0.54815	1.068000	0.40764	0.533000	0.62120	AAT		0.493	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		19	51	0	0	0	1	0	19	51				
ASH1L	55870	broad.mit.edu	37	1	155311735	155311735	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:155311735C>A	ENST00000368346.3	-	25	9106	c.8467G>T	c.(8467-8469)Gat>Tat	p.D2823Y	ASH1L_ENST00000392403.3_Missense_Mutation_p.D2818Y			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2823					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ACCGAGAAATCTTTTTTGGGA	0.448																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(8467-8469)Gat>Tat		ash1 (absent, small, or homeotic)-like (Drosophila)							158.0	166.0	163.0					1																	155311735		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155311735C>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.8467G>T	1.37:g.155311735C>A	ENSP00000357330:p.Asp2823Tyr					ASH1L_ENST00000392403.3_Missense_Mutation_p.D2818Y	p.D2823Y			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		25	9106	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2823					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.8467G>T		.	.	.	.	.	.	.	.	.	.	C	27.8	4.861486	0.91433	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.89415	-2.51;-2.51	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.91901	0.7436	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.92399	0.5928	10	0.87932	D	0	.	18.6774	0.91534	0.0:1.0:0.0:0.0	.	2823;2818	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	Y	2823;2818	ENSP00000357330:D2823Y;ENSP00000376204:D2818Y	ENSP00000357330:D2823Y	D	-	1	0	ASH1L	153578359	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.419000	0.80179	2.738000	0.93877	0.555000	0.69702	GAT		0.448	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		37	101	1	0	9.62906e-15	1	1.18071e-14	37	101				
CNTN1	1272	broad.mit.edu	37	12	41323676	41323676	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr12:41323676C>A	ENST00000551295.2	+	7	692	c.575C>A	c.(574-576)aCa>aAa	p.T192K	CNTN1_ENST00000547849.1_Missense_Mutation_p.T192K|CNTN1_ENST00000360099.3_Missense_Mutation_p.T192K|CNTN1_ENST00000347616.1_Missense_Mutation_p.T192K|CNTN1_ENST00000547702.1_Missense_Mutation_p.T192K|CNTN1_ENST00000348761.2_Missense_Mutation_p.T181K	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	192	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GTGTCTCAGACAAATGGCAAT	0.388																																						ENST00000551295.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(574-576)aCa>aAa		contactin 1							137.0	135.0	136.0					12																	41323676		2203	4300	6503	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41323676C>A	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.575C>A	12.37:g.41323676C>A	ENSP00000447006:p.Thr192Lys					CNTN1_ENST00000547849.1_Missense_Mutation_p.T192K|CNTN1_ENST00000347616.1_Missense_Mutation_p.T192K|CNTN1_ENST00000348761.2_Missense_Mutation_p.T181K|CNTN1_ENST00000547702.1_Missense_Mutation_p.T192K|CNTN1_ENST00000360099.3_Missense_Mutation_p.T192K	p.T192K	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN			7	692	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	192			Ig-like C2-type 2.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.575C>A	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	C	9.304	1.053754	0.19907	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.13196	2.61;2.61;2.61;2.61;2.61;2.61	5.39	5.39	0.77823	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.146860	0.64402	D	0.000008	T	0.11367	0.0277	N	0.24115	0.695	0.41008	D	0.984986	B;B;B	0.22541	0.025;0.057;0.071	B;B;B	0.26693	0.013;0.043;0.072	T	0.13469	-1.0508	10	0.08837	T	0.75	.	19.5309	0.95228	0.0:1.0:0.0:0.0	.	192;181;192	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	K	192;192;192;192;192;181	ENSP00000448004:T192K;ENSP00000447006:T192K;ENSP00000448653:T192K;ENSP00000325660:T192K;ENSP00000353213:T192K;ENSP00000261160:T181K	ENSP00000325660:T192K	T	+	2	0	CNTN1	39609943	0.991000	0.36638	0.979000	0.43373	0.997000	0.91878	2.648000	0.46647	2.699000	0.92147	0.655000	0.94253	ACA		0.388	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		40	74	1	0	3.21399e-22	1	4.28071e-22	40	74				
PRAMEF12	390999	broad.mit.edu	37	1	12835781	12835781	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:12835781G>T	ENST00000357726.4	+	2	410	c.383G>T	c.(382-384)aGt>aTt	p.S128I		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	128					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGCCCTGAGTAAGAGACGA	0.547																																						ENST00000357726.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(382-384)aGt>aTt		PRAME family member 12							112.0	127.0	122.0					1																	12835781		2162	4292	6454	SO:0001583	missense	390999							g.chr1:12835781G>T		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.383G>T	1.37:g.12835781G>T	ENSP00000350358:p.Ser128Ile						p.S128I	NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	410	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	128						Missense_Mutation	SNP	ENST00000357726.4	37	c.383G>T	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	7.737	0.700368	0.15106	.	.	ENSG00000116726	ENST00000357726	T	0.05925	3.37	1.97	-0.169	0.13339	.	3.599960	0.01131	N	0.005993	T	0.08268	0.0206	M	0.62016	1.91	0.09310	N	1	B	0.34103	0.437	B	0.34093	0.175	T	0.31392	-0.9945	10	0.23891	T	0.37	.	3.0668	0.06217	0.1875:0.289:0.5234:0.0	.	128	O95522	PRA12_HUMAN	I	128	ENSP00000350358:S128I	ENSP00000350358:S128I	S	+	2	0	PRAMEF12	12758368	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	0.253000	0.18296	-0.034000	0.13713	0.313000	0.20887	AGT		0.547	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		78	194	1	0	5.61366e-43	1	8.1057e-43	78	194				
NPAP1	23742	broad.mit.edu	37	15	24924320	24924320	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr15:24924320G>T	ENST00000329468.2	+	1	3780	c.3306G>T	c.(3304-3306)atG>atT	p.M1102I		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	1102					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GCAGTGGTATGGGAGGGGATG	0.493																																						ENST00000329468.2																			0											c.(3304-3306)atG>atT		nuclear pore associated protein 1							143.0	124.0	131.0					15																	24924320		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24924320G>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.3306G>T	15.37:g.24924320G>T	ENSP00000333735:p.Met1102Ile						p.M1102I	NM_018958.2	NP_061831.2					1	3780	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.3306G>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	6.354	0.433424	0.12045	.	.	ENSG00000185823	ENST00000329468	T	0.05513	3.43	1.58	-0.524	0.11920	.	.	.	.	.	T	0.03095	0.0091	N	0.22421	0.69	0.09310	N	1	B	0.19817	0.039	B	0.15870	0.014	T	0.47484	-0.9114	9	0.09084	T	0.74	.	2.1089	0.03698	0.2049:0.0:0.4869:0.3082	.	1102	Q9NZP6	CO002_HUMAN	I	1102	ENSP00000333735:M1102I	ENSP00000333735:M1102I	M	+	3	0	C15orf2	22475413	0.019000	0.18553	0.009000	0.14445	0.100000	0.18952	1.560000	0.36331	-0.142000	0.11354	0.313000	0.20887	ATG		0.493	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		5	119	1	0	0.014758	1	0.0150007	5	119				
OR51G2	81282	broad.mit.edu	37	11	4936656	4936656	+	Missense_Mutation	SNP	G	G	C	rs549541455		TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:4936656G>C	ENST00000322013.3	-	1	266	c.238C>G	c.(238-240)Ctt>Gtt	p.L80V	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGAGTGCAAAGGGAGAGACCC	0.463																																						ENST00000322013.3																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(238-240)Ctt>Gtt		olfactory receptor, family 51, subfamily G, member 2							87.0	78.0	81.0					11																	4936656		2201	4298	6499	SO:0001583	missense	81282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4936656G>C	AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"""GPCR / Class A : Olfactory receptors"""	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.238C>G	11.37:g.4936656G>C	ENSP00000322593:p.Leu80Val					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.L80V	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	266	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	80					Q6IFH7	Missense_Mutation	SNP	ENST00000322013.3	37	c.238C>G	CCDS31365.1	.	.	.	.	.	.	.	.	.	.	G	9.037	0.988779	0.18966	.	.	ENSG00000176893	ENST00000322013	T	0.02916	4.11	5.49	1.25	0.21368	GPCR, rhodopsin-like superfamily (1);	0.152620	0.30593	N	0.009292	T	0.03178	0.0093	L	0.59912	1.85	0.09310	N	1	B	0.34181	0.44	B	0.33690	0.168	T	0.37709	-0.9694	10	0.37606	T	0.19	.	4.689	0.12771	0.0739:0.1121:0.3962:0.4177	.	80	Q8NGK0	O51G2_HUMAN	V	80	ENSP00000322593:L80V	ENSP00000322593:L80V	L	-	1	0	OR51G2	4893232	0.000000	0.05858	0.806000	0.32338	0.559000	0.35586	-0.385000	0.07379	0.413000	0.25759	-0.150000	0.13652	CTT		0.463	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142174.1	NM_001005238		18	47	0	0	0	1	0	18	47				
CTNND2	1501	broad.mit.edu	37	5	11022898	11022898	+	Silent	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:11022898G>T	ENST00000304623.8	-	17	3171	c.2982C>A	c.(2980-2982)tcC>tcA	p.S994S	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Silent_p.S561S|CTNND2_ENST00000503622.1_Silent_p.S657S|CTNND2_ENST00000359640.2_Silent_p.S936S|CTNND2_ENST00000511377.1_Silent_p.S903S	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	994					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTTTGCTTTTGGAGATGCCGA	0.498																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(2980-2982)tcC>tcA		catenin (cadherin-associated protein), delta 2							147.0	125.0	132.0					5																	11022898		2203	4300	6503	SO:0001819	synonymous_variant	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11022898G>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2982C>A	5.37:g.11022898G>T						CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Silent_p.S936S|CTNND2_ENST00000511377.1_Silent_p.S903S|CTNND2_ENST00000458100.2_Silent_p.S561S|CTNND2_ENST00000503622.1_Silent_p.S657S	p.S994S	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			17	3171	-			994					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	c.2982C>A	CCDS3881.1																																																																																				0.498	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		18	56	1	0	9.16793e-09	1	1.05312e-08	18	56				
NHLRC1	378884	broad.mit.edu	37	6	18122404	18122404	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr6:18122404T>C	ENST00000340650.3	-	1	447	c.434A>G	c.(433-435)cAc>cGc	p.H145R		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing E3 ubiquitin protein ligase 1	145					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|positive regulation of protein ubiquitination (GO:0031398)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			CCTGCCGTCGTGCACCACCAC	0.637																																						ENST00000340650.3																			0				breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11						c.(433-435)cAc>cGc		NHL repeat containing 1							45.0	50.0	48.0					6																	18122404		2196	4296	6492	SO:0001583	missense	378884				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:18122404T>C	AY324849	CCDS4542.1	6p22.3	2014-01-28	2013-12-12		ENSG00000187566	ENSG00000187566			21576	protein-coding gene	gene with protein product	"""epilepsy, progressive myoclonus type 2B"""	608072	"""NHL repeat containing 1"""			12958597	Standard	NM_198586		Approved	bA204B7.2, EPM2B, malin	uc003ncl.1	Q6VVB1	OTTHUMG00000014315	ENST00000340650.3:c.434A>G	6.37:g.18122404T>C	ENSP00000345464:p.His145Arg						p.H145R	NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	all cancers(50;0.0451)|Epithelial(50;0.0493)		1	447	-	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	145					Q3SYB1|Q5VUK7|Q6IMH1	Missense_Mutation	SNP	ENST00000340650.3	37	c.434A>G	CCDS4542.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.134655	0.77662	.	.	ENSG00000187566	ENST00000340650	D	0.90069	-2.61	5.23	5.23	0.72850	Six-bladed beta-propeller, TolB-like (1);	0.052927	0.85682	D	0.000000	D	0.88797	0.6534	L	0.57536	1.79	0.46396	D	0.999025	D	0.59767	0.986	P	0.53450	0.726	D	0.90493	0.4468	10	0.87932	D	0	-12.8011	14.7892	0.69827	0.0:0.0:0.0:1.0	.	145	Q6VVB1	NHLC1_HUMAN	R	145	ENSP00000345464:H145R	ENSP00000345464:H145R	H	-	2	0	NHLRC1	18230383	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.400000	0.59709	1.958000	0.56883	0.533000	0.62120	CAC		0.637	NHLRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039958.1			15	87	0	0	0	1	0	15	87				
BZRAP1	9256	broad.mit.edu	37	17	56399671	56399671	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:56399671G>T	ENST00000343736.4	-	10	1583	c.1420C>A	c.(1420-1422)Cag>Aag	p.Q474K	BZRAP1_ENST00000268893.6_Missense_Mutation_p.Q414K|BZRAP1_ENST00000355701.3_Missense_Mutation_p.Q474K			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	474						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CGCCCCACCTGCTGCAGTCTC	0.642																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1420-1422)Cag>Aag		benzodiazapine receptor (peripheral) associated protein 1							54.0	57.0	56.0					17																	56399671		2203	4300	6503	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56399671G>T	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.1420C>A	17.37:g.56399671G>T	ENSP00000345824:p.Gln474Lys					BZRAP1_ENST00000268893.6_Missense_Mutation_p.Q414K|BZRAP1_ENST00000343736.4_Missense_Mutation_p.Q474K	p.Q474K	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			10	2290	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		474					O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.1420C>A	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.647093	0.47258	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04317	3.65;3.65;3.65	4.8	3.82	0.43975	.	0.074217	0.56097	D	0.000025	T	0.03739	0.0106	N	0.12887	0.27	0.29883	N	0.825846	B;P;B	0.48230	0.259;0.907;0.077	B;P;B	0.50490	0.064;0.642;0.082	T	0.10359	-1.0633	10	0.02654	T	1	.	9.4353	0.38635	0.0998:0.0:0.9002:0.0	.	474;414;474	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	K	474;474;414	ENSP00000347929:Q474K;ENSP00000345824:Q474K;ENSP00000268893:Q414K	ENSP00000268893:Q414K	Q	-	1	0	BZRAP1	53754670	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	1.789000	0.38724	2.213000	0.71641	0.563000	0.77884	CAG		0.642	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		27	119	1	0	2.12542e-12	1	2.52597e-12	27	119				
C10orf53	282966	broad.mit.edu	37	10	50901953	50901953	+	Intron	SNP	C	C	A	rs564338810		TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr10:50901953C>A	ENST00000374111.3	+	2	229				C10orf53_ENST00000374113.3_Silent_p.G77G|C10orf53_ENST00000535836.1_Intron|C10orf53_ENST00000374112.3_Intron	NM_001042427.1	NP_001035892.1	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53											endometrium(1)|lung(6)	7		all_neural(218;0.107)				AGCCCTTTGGCGATGCTTCCA	0.443																																						ENST00000374113.3																			0				endometrium(1)|lung(6)	7						c.(229-231)ggC>ggA		chromosome 10 open reading frame 53							151.0	139.0	143.0					10																	50901953		2203	4300	6503	SO:0001627	intron_variant	282966							g.chr10:50901953C>A	BC028127	CCDS31202.1, CCDS41521.1	10q11.23	2012-05-24			ENSG00000178645	ENSG00000178645			27421	protein-coding gene	gene with protein product						12477932	Standard	NM_182554		Approved	Em:AC069546.1	uc001jid.1	Q8N6V4	OTTHUMG00000018199	ENST00000374111.3:c.217+14C>A	10.37:g.50901953C>A						C10orf53_ENST00000374111.3_Intron|C10orf53_ENST00000535836.1_Intron|C10orf53_ENST00000374112.3_Intron	p.G77G			Q8N6V4	CJ053_HUMAN			2	278	+		all_neural(218;0.107)	0					A6NI81|A6NLE0|B9ZVK6	Silent	SNP	ENST00000374111.3	37	c.231C>A	CCDS41521.1																																																																																				0.443	C10orf53-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048005.1	NM_182554		26	46	1	0	1.26454e-06	1	1.37586e-06	26	46				
OR6N2	81442	broad.mit.edu	37	1	158746766	158746766	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:158746766C>A	ENST00000339258.1	-	1	659	c.660G>T	c.(658-660)agG>agT	p.R220S		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					CCCCAATGATCCTTGCATAAG	0.418																																						ENST00000339258.1																			0				endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(658-660)agG>agT		olfactory receptor, family 6, subfamily N, member 2							62.0	62.0	62.0					1																	158746766		2203	4300	6503	SO:0001583	missense	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158746766C>A	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.660G>T	1.37:g.158746766C>A	ENSP00000344101:p.Arg220Ser						p.R220S	NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN			1	659	-	all_hematologic(112;0.0378)		220					Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	c.660G>T	CCDS30906.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.291992	0.23564	.	.	ENSG00000188340	ENST00000339258	T	0.00099	8.73	4.89	-3.29	0.05017	GPCR, rhodopsin-like superfamily (1);	0.177662	0.26765	N	0.022602	T	0.00039	0.0001	L	0.35854	1.095	0.21473	N	0.999675	P	0.39576	0.679	B	0.40741	0.339	T	0.23226	-1.0194	10	0.25751	T	0.34	-7.7469	5.525	0.16953	0.1178:0.5183:0.12:0.2439	.	220	Q8NGY6	OR6N2_HUMAN	S	220	ENSP00000344101:R220S	ENSP00000344101:R220S	R	-	3	2	OR6N2	157013390	0.000000	0.05858	0.970000	0.41538	0.837000	0.47467	-3.678000	0.00395	-0.502000	0.06596	-0.312000	0.09012	AGG		0.418	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1			17	40	1	0	9.7654e-05	1	0.000103339	17	40				
DSTN	11034	broad.mit.edu	37	20	17581473	17581473	+	Silent	SNP	A	A	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr20:17581473A>C	ENST00000246069.7	+	2	440	c.94A>C	c.(94-96)Aga>Cga	p.R32R	DSTN_ENST00000474024.1_Silent_p.R15R	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	32	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|actin filament severing (GO:0051014)|actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|positive regulation of actin filament depolymerization (GO:0030836)	actin cytoskeleton (GO:0015629)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						AATCAAGAAAAGAAAGAAGGC	0.398																																						ENST00000246069.6																			0				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						c.(94-96)Aga>Cga		destrin (actin depolymerizing factor)							64.0	64.0	64.0					20																	17581473		2203	4300	6503	SO:0001819	synonymous_variant	11034				actin filament severing|actin polymerization or depolymerization		actin binding	g.chr20:17581473A>C	S65738	CCDS13127.1, CCDS46580.1	20p12.1	2010-08-20			ENSG00000125868	ENSG00000125868			15750	protein-coding gene	gene with protein product		609114				8399167, 2156828	Standard	NM_006870		Approved	ADF, ACTDP	uc002wpr.3	P60981	OTTHUMG00000031947	ENST00000246069.7:c.94A>C	20.37:g.17581473A>C						DSTN_ENST00000474024.1_3'UTR|DSTN_ENST00000543261.1_Silent_p.R15R	p.R32R	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN			2	440	+			32			ADF-H.		B2R6N2|B4DYA6|P18282|Q5W166|Q6IAW2	Silent	SNP	ENST00000246069.7	37	c.94A>C	CCDS13127.1																																																																																				0.398	DSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078131.6	NM_001011546		28	69	0	0	0	1	0	28	69				
RALBP1	10928	broad.mit.edu	37	18	9513224	9513224	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr18:9513224G>A	ENST00000019317.4	+	2	404	c.181G>A	c.(181-183)Gtg>Atg	p.V61M	RALBP1_ENST00000383432.3_Missense_Mutation_p.V61M			Q15311	RBP1_HUMAN	ralA binding protein 1	61					ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	TCCTGATGTAGTGTCTGATGA	0.443																																						ENST00000019317.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						c.(181-183)Gtg>Atg		ralA binding protein 1							54.0	54.0	54.0					18																	9513224		2203	4300	6503	SO:0001583	missense	10928				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding	g.chr18:9513224G>A	L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.181G>A	18.37:g.9513224G>A	ENSP00000019317:p.Val61Met					RALBP1_ENST00000383432.3_Missense_Mutation_p.V61M	p.V61M			Q15311	RBP1_HUMAN			2	404	+			61					D3DUI0	Missense_Mutation	SNP	ENST00000019317.4	37	c.181G>A	CCDS11845.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294823	0.60086	.	.	ENSG00000017797	ENST00000019317;ENST00000383432;ENST00000458039	T;T	0.11063	2.81;2.81	5.1	5.1	0.69264	.	0.116186	0.64402	D	0.000019	T	0.10895	0.0266	L	0.38175	1.15	0.50632	D	0.999884	P	0.43287	0.802	B	0.37239	0.244	T	0.10428	-1.0630	10	0.35671	T	0.21	-26.6289	18.8686	0.92303	0.0:0.0:1.0:0.0	.	61	Q15311	RBP1_HUMAN	M	61	ENSP00000019317:V61M;ENSP00000372924:V61M	ENSP00000019317:V61M	V	+	1	0	RALBP1	9503224	1.000000	0.71417	0.980000	0.43619	0.874000	0.50279	6.203000	0.72137	2.520000	0.84964	0.462000	0.41574	GTG		0.443	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254479.1	NM_006788		49	36	0	0	0	1	0	49	36				
NIN	51199	broad.mit.edu	37	14	51202259	51202259	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr14:51202259A>T	ENST00000382041.3	-	28	6042	c.5852T>A	c.(5851-5853)gTa>gAa	p.V1951E	NIN_ENST00000245441.5_Missense_Mutation_p.V1951E|NIN_ENST00000324330.9_Missense_Mutation_p.V1951E|NIN_ENST00000530997.2_Missense_Mutation_p.V1951E|NIN_ENST00000382043.4_Missense_Mutation_p.V1238E|NIN_ENST00000453196.1_Missense_Mutation_p.V1951E|NIN_ENST00000389868.3_Missense_Mutation_p.V1238E	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1951					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					ATCCAGTTTTACTTGTTTCTT	0.353			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(5851-5853)gTa>gAa		ninein (GSK3B interacting protein)							143.0	118.0	126.0					14																	51202259		2203	4299	6502	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51202259A>T	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.5852T>A	14.37:g.51202259A>T	ENSP00000371472:p.Val1951Glu					NIN_ENST00000530997.2_Missense_Mutation_p.V1951E|NIN_ENST00000324330.9_Missense_Mutation_p.V1951E|NIN_ENST00000453196.1_Missense_Mutation_p.V1951E|NIN_ENST00000389868.3_Missense_Mutation_p.V1238E|NIN_ENST00000382041.3_Missense_Mutation_p.V1951E|NIN_ENST00000382043.4_Missense_Mutation_p.V1238E	p.V1951E	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			28	6042	-	all_epithelial(31;0.00244)|Breast(41;0.127)		1951					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.5852T>A	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.0|21.0	4.085173|4.085173	0.76642|0.76642	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853|ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	.|T;T;T;T;T;T	.|0.14640	.|3.49;2.49;2.68;3.15;2.99;3.02	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.256433	.|0.30235	.|N	.|0.010093	T|T	0.23249|0.23249	0.0562|0.0562	L|L	0.47716|0.47716	1.5|1.5	0.28479|0.28479	N|N	0.915045|0.915045	.|D;D;D;D;D	.|0.89917	.|0.991;0.999;1.0;0.967;1.0	.|P;D;D;P;D	.|0.74674	.|0.791;0.961;0.984;0.537;0.984	T|T	0.05767|0.05767	-1.0865|-1.0865	5|10	.|0.02654	.|T	.|1	-13.9117|-13.9117	11.4118|11.4118	0.49929|0.49929	0.8491:0.1509:0.0:0.0|0.8491:0.1509:0.0:0.0	.|.	.|1957;1951;1951;1238;1951	.|Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.|.;.;NIN_HUMAN;.;.	R|E	1441|1951;1934;1238;1238;1957;1951;1951;1951	.|ENSP00000245441:V1951E;ENSP00000374518:V1238E;ENSP00000371474:V1238E;ENSP00000371472:V1951E;ENSP00000324210:V1951E;ENSP00000412391:V1951E	.|ENSP00000245441:V1951E	S|V	-|-	3|2	2|0	NIN|NIN	50272009|50272009	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.412000|4.412000	0.59787|0.59787	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	AGT|GTA		0.353	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		7	47	0	0	0	1	0	7	47				
MRGPRX3	117195	broad.mit.edu	37	11	18159265	18159265	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:18159265G>C	ENST00000396275.2	+	3	877	c.516G>C	c.(514-516)tgG>tgC	p.W172C		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	172				W -> R (in Ref. 2; AAL86879). {ECO:0000305}.		integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						ATTCTGTTTGGTGTGAAACGT	0.502																																						ENST00000396275.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(514-516)tgG>tgC		MAS-related GPR, member X3							185.0	166.0	172.0					11																	18159265		2200	4293	6493	SO:0001583	missense	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18159265G>C		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.516G>C	11.37:g.18159265G>C	ENSP00000379571:p.Trp172Cys						p.W172C	NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN			3	877	+			172	W -> R (in Ref. 2; AAL86879).				B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	c.516G>C	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	G	2.120	-0.401737	0.04865	.	.	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.38722	1.12;1.12	1.46	0.325	0.15903	GPCR, rhodopsin-like superfamily (1);	1.512020	0.03630	N	0.237797	T	0.45236	0.1332	M	0.80028	2.48	0.09310	N	1	B	0.21606	0.058	B	0.27262	0.078	T	0.21759	-1.0236	10	0.32370	T	0.25	.	3.3704	0.07219	0.0:0.2903:0.4171:0.2925	.	172	Q96LB0	MRGX3_HUMAN	C	172	ENSP00000379571:W172C;ENSP00000436242:W172C	ENSP00000379571:W172C	W	+	3	0	MRGPRX3	18115841	0.000000	0.05858	0.012000	0.15200	0.020000	0.10135	-1.416000	0.02467	0.095000	0.17434	0.430000	0.28490	TGG		0.502	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		59	150	0	0	0	1	0	59	150				
IGKV1D-43	28891	broad.mit.edu	37	2	90249229	90249229	+	RNA	SNP	C	C	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:90249229C>G	ENST00000468879.1	+	0	366									immunoglobulin kappa variable 1D-43																		CAGCAAAAACCAGCAAAAGCC	0.498																																						ENST00000468879.1																			0																				151.0	154.0	153.0					2																	90249229		1870	4112	5982			28891							g.chr2:90249229C>G	X72817		2p11.2	2012-10-03			ENSG00000242580	ENSG00000242580		"""Immunoglobulins / IGK locus"""	5758	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151572		2.37:g.90249229C>G														0	366	+									RNA	SNP	ENST00000468879.1	37																																																																																						0.498	IGKV1D-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323147.2	NG_000833		83	241	0	0	0	1	0	83	241				
NSD1	64324	broad.mit.edu	37	5	176707786	176707786	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:176707786G>T	ENST00000439151.2	+	18	5888	c.5843G>T	c.(5842-5844)cGc>cTc	p.R1948L	NSD1_ENST00000354179.4_Missense_Mutation_p.R1679L|NSD1_ENST00000347982.4_Missense_Mutation_p.R1679L|NSD1_ENST00000361032.4_Missense_Mutation_p.R1845L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1948	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		GAAATTTTCCGCACATTACAG	0.458			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(5842-5844)cGc>cTc		nuclear receptor binding SET domain protein 1							75.0	75.0	75.0					5																	176707786		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176707786G>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5843G>T	5.37:g.176707786G>T	ENSP00000395929:p.Arg1948Leu	HNSCC(47;0.14)				NSD1_ENST00000354179.4_Missense_Mutation_p.R1679L|NSD1_ENST00000347982.4_Missense_Mutation_p.R1679L|NSD1_ENST00000361032.4_Missense_Mutation_p.R1845L	p.R1948L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	18	5888	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1948			SET.		Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.5843G>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.636889	0.87760	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6	5.92	5.05	0.67936	SET domain (2);	0.000000	0.64402	D	0.000005	D	0.93710	0.7990	M	0.75264	2.295	0.46078	D	0.998856	D;D;D	0.89917	1.0;1.0;0.993	D;D;P	0.83275	0.996;0.996;0.84	D	0.92980	0.6405	10	0.35671	T	0.21	.	15.2971	0.73916	0.0672:0.0:0.9328:0.0	.	1679;1845;1948	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	L	1679;1948;1679;1845	ENSP00000346111:R1679L;ENSP00000395929:R1948L;ENSP00000343209:R1679L;ENSP00000354310:R1845L	ENSP00000343209:R1679L	R	+	2	0	NSD1	176640392	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	5.782000	0.68973	1.506000	0.48736	0.650000	0.86243	CGC		0.458	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		13	60	1	0	7.03913e-09	1	8.11601e-09	13	60				
UGT1A5	54579	broad.mit.edu	37	2	234622486	234622486	+	Silent	SNP	C	C	T	rs149208140	byFrequency	TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:234622486C>T	ENST00000373414.3	+	1	849	c.849C>T	c.(847-849)aaC>aaT	p.N283N	UGT1A6_ENST00000305139.6_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A1_ENST00000608381.1_Silent_p.N283N|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Intron			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	283						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_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;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		ACTGTGCCAACGGGAAGCCAC	0.463													C|||	7	0.00139776	0.0	0.0	5008	,	,		20850	0.0		0.004	False		,,,				2504	0.0031					ENST00000373414.3																			0				cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22						c.(847-849)aaC>aaT				C	,,,,,,	4,4402	8.1+/-20.4	0,4,2199	71.0	81.0	78.0		,,,,849,,	-0.3	0.0	2	dbSNP_134	78	35,8565	23.4+/-69.3	0,35,4265	no	intron,intron,intron,intron,coding-synonymous,intron,intron	UGT1A10,UGT1A8,UGT1A7,UGT1A6,UGT1A5,UGT1A9	NM_001072.3,NM_019075.2,NM_019076.4,NM_019077.2,NM_019078.1,NM_021027.2,NM_205862.1	,,,,,,	0,39,6464	TT,TC,CC		0.407,0.0908,0.2999	,,,,,,	,,,,283/535,,	234622486	39,12967	2203	4300	6503	SO:0001819	synonymous_variant	54579							g.chr2:234622486C>T	M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"""UDP glucuronosyltransferases"""	12537	other	complex locus constituent		606430	"""UDP glycosyltransferase 1 family, polypeptide A5"""			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.849C>T	2.37:g.234622486C>T						UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron	p.N283N	NM_019078.1	NP_061951.1				Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)	1	849	+		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)						B8K294	Silent	SNP	ENST00000373414.3	37	c.849C>T	CCDS33404.1																																																																																				0.463	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130985.1	NM_019078		4	190	0	0	0	1	0	4	190				
NIM1K	167359	broad.mit.edu	37	5	43280495	43280495	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:43280495G>T	ENST00000512796.1	+	4	2474	c.975G>T	c.(973-975)atG>atT	p.M325I	NIM1_ENST00000326035.2_Missense_Mutation_p.M325I			Q8IY84	NIM1_HUMAN		325	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)										ATGAATGGATGCAAGGGGTGC	0.512																																						ENST00000512796.1																			0											c.(973-975)atG>atT									99.0	94.0	96.0					5																	43280495		2203	4300	6503	SO:0001583	missense	167359						ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:43280495G>T																												ENST00000512796.1:c.975G>T	5.37:g.43280495G>T	ENSP00000420849:p.Met325Ile					NIM1_ENST00000326035.2_Missense_Mutation_p.M325I	p.M325I			Q8IY84	NIM1_HUMAN			4	2474	+			325			Protein kinase.		B3KVM1	Missense_Mutation	SNP	ENST00000512796.1	37	c.975G>T	CCDS3943.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273136	0.40194	.	.	ENSG00000177453	ENST00000326035;ENST00000512796	T;T	0.62639	0.01;0.01	5.58	5.58	0.84498	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.103207	0.64402	D	0.000002	T	0.46112	0.1376	N	0.01289	-0.905	0.58432	D	0.999999	B	0.29270	0.24	B	0.40702	0.338	T	0.56613	-0.7950	10	0.45353	T	0.12	.	19.5799	0.95461	0.0:0.0:1.0:0.0	.	325	Q8IY84	NIM1_HUMAN	I	325	ENSP00000313572:M325I;ENSP00000420849:M325I	ENSP00000313572:M325I	M	+	3	0	AC114947.1	43316252	1.000000	0.71417	1.000000	0.80357	0.215000	0.24574	3.928000	0.56506	2.642000	0.89623	0.655000	0.94253	ATG		0.512	NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368017.1			36	93	1	0	3.66082e-28	1	5.09546e-28	36	93				
ANKRD10	55608	broad.mit.edu	37	13	111532019	111532019	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr13:111532019C>T	ENST00000267339.2	-	6	1362	c.1228G>A	c.(1228-1230)Gtg>Atg	p.V410M	ANKRD10_ENST00000375758.5_3'UTR	NM_017664.2	NP_060134.2	Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	410										central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			GTGCCCAGCACGGCACTGTCG	0.587																																						ENST00000267339.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9						c.(1228-1230)Gtg>Atg		ankyrin repeat domain 10							90.0	66.0	74.0					13																	111532019		2203	4300	6503	SO:0001583	missense	55608							g.chr13:111532019C>T	AK000100	CCDS9520.1, CCDS66580.1	13q33.3	2013-01-10			ENSG00000088448	ENSG00000088448		"""Ankyrin repeat domain containing"""	20265	protein-coding gene	gene with protein product							Standard	NM_017664		Approved	FLJ20093	uc001vrn.3	Q9NXR5	OTTHUMG00000017349	ENST00000267339.2:c.1228G>A	13.37:g.111532019C>T	ENSP00000267339:p.Val410Met					ANKRD10_ENST00000375758.5_3'UTR	p.V410M	NM_017664.2	NP_060134.2	Q9NXR5	ANR10_HUMAN	all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)		6	1362	-	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		410					Q5VW12|Q9BV12	Missense_Mutation	SNP	ENST00000267339.2	37	c.1228G>A	CCDS9520.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.770148	0.31320	.	.	ENSG00000088448	ENST00000267339	T	0.73469	-0.75	5.73	-1.96	0.07525	.	0.472901	0.22268	N	0.062311	T	0.68256	0.2981	M	0.64997	1.995	0.19945	N	0.999943	D	0.53462	0.96	P	0.45506	0.483	T	0.64609	-0.6367	10	0.72032	D	0.01	-3.6075	7.9368	0.29935	0.1005:0.4365:0.0:0.4629	.	410	Q9NXR5	ANR10_HUMAN	M	410	ENSP00000267339:V410M	ENSP00000267339:V410M	V	-	1	0	ANKRD10	110330020	0.606000	0.26949	0.001000	0.08648	0.055000	0.15305	0.576000	0.23744	-0.348000	0.08286	-0.806000	0.03193	GTG		0.587	ANKRD10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045783.1			21	11	0	0	0	1	0	21	11				
ITGAL	3683	broad.mit.edu	37	16	30528315	30528315	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr16:30528315C>A	ENST00000356798.6	+	26	3064	c.2884C>A	c.(2884-2886)Cac>Aac	p.H962N	ITGAL_ENST00000358164.5_Missense_Mutation_p.H878N|ITGAL_ENST00000433423.2_Missense_Mutation_p.H196N	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	962					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	GCCTTCCATCCACGACCACAA	0.642																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(2884-2886)Cac>Aac		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						155.0	159.0	158.0					16																	30528315		2197	4300	6497	SO:0001583	missense	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30528315C>A		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2884C>A	16.37:g.30528315C>A	ENSP00000349252:p.His962Asn					ITGAL_ENST00000433423.2_Missense_Mutation_p.H196N|ITGAL_ENST00000358164.5_Missense_Mutation_p.H878N	p.H962N	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			26	3064	+			962					O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.2884C>A	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127929	0.37533	.	.	ENSG00000005844	ENST00000356798;ENST00000358164;ENST00000433423	T;T;T	0.56444	0.46;0.81;2.01	4.61	-5.8	0.02347	Integrin alpha-2 (1);	1.774040	0.02881	N	0.132815	T	0.52025	0.1709	L	0.36672	1.1	0.09310	N	1	D;P;P	0.71674	0.998;0.945;0.85	D;P;P	0.63033	0.91;0.755;0.585	T	0.54227	-0.8325	10	0.31617	T	0.26	.	2.9753	0.05935	0.1322:0.1912:0.1305:0.5461	.	196;878;962	B4E021;Q96HB1;P20701	.;.;ITAL_HUMAN	N	962;878;196	ENSP00000349252:H962N;ENSP00000350886:H878N;ENSP00000409377:H196N	ENSP00000349252:H962N	H	+	1	0	ITGAL	30435816	0.000000	0.05858	0.000000	0.03702	0.181000	0.23173	-0.488000	0.06497	-0.891000	0.03940	-0.262000	0.10625	CAC		0.642	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			47	390	1	0	1.05386e-31	1	1.48019e-31	47	390				
TTC30B	150737	broad.mit.edu	37	2	178415579	178415579	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:178415579C>G	ENST00000408939.3	-	1	2163	c.1913G>C	c.(1912-1914)aGa>aCa	p.R638T		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	638					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			AACATGCATTCTTTCTTCTTC	0.363																																						ENST00000408939.2																			0				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(1912-1914)aGa>aCa		tetratricopeptide repeat domain 30B							148.0	152.0	150.0					2																	178415579		2201	4300	6501	SO:0001583	missense	150737				cell projection organization	cilium	binding	g.chr2:178415579C>G	AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.1913G>C	2.37:g.178415579C>G	ENSP00000386181:p.Arg638Thr						p.R638T	NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)		1	2163	-			638					Q63HQ1|Q96NE6	Missense_Mutation	SNP	ENST00000408939.3	37	c.1913G>C	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	C	0.592	-0.832486	0.02713	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.17213	2.29	4.94	4.94	0.65067	.	0.085969	0.85682	D	0.000000	T	0.14313	0.0346	L	0.39898	1.24	0.51233	D	0.99991	B	0.23128	0.08	B	0.23275	0.045	T	0.06356	-1.0831	10	0.16420	T	0.52	.	13.084	0.59129	0.0:0.9227:0.0:0.0773	.	638	Q8N4P2	TT30B_HUMAN	T	591;638	ENSP00000386181:R638T	ENSP00000386181:R638T	R	-	2	0	TTC30B	178123825	1.000000	0.71417	1.000000	0.80357	0.231000	0.25187	3.940000	0.56599	2.715000	0.92844	0.655000	0.94253	AGA		0.363	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517		43	102	0	0	0	1	0	43	102				
SLC47A1	55244	broad.mit.edu	37	17	19445705	19445705	+	Splice_Site	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:19445705G>A	ENST00000270570.4	+	2	221		c.e2-1		SLC47A1_ENST00000575023.1_Splice_Site|SLC47A1_ENST00000457293.1_Splice_Site|SLC47A1_ENST00000571335.1_Splice_Site|SLC47A1_ENST00000542886.1_Splice_Site|SLC47A1_ENST00000584348.1_Splice_Site|SLC47A1_ENST00000395585.1_Splice_Site|SLC47A1_ENST00000436810.2_Splice_Site	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1						organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	TCTCTTCCCAGTTCTTGGTTC	0.577																																						ENST00000270570.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.e2-1		solute carrier family 47 (multidrug and toxin extrusion), member 1							202.0	150.0	167.0					17																	19445705		2203	4300	6503	SO:0001630	splice_region_variant	55244					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19445705G>A		CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.136-1G>A	17.37:g.19445705G>A						SLC47A1_ENST00000571335.1_Splice_Site|SLC47A1_ENST00000457293.1_Splice_Site|SLC47A1_ENST00000575023.1_Splice_Site|SLC47A1_ENST00000584348.1_Splice_Site|SLC47A1_ENST00000542886.1_Splice_Site|SLC47A1_ENST00000436810.2_Splice_Site|SLC47A1_ENST00000395585.1_Splice_Site		NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN			2	221	+	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)							Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Splice_Site	SNP	ENST00000270570.4	37		CCDS11209.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751789	0.69533	.	.	ENSG00000142494	ENST00000436810;ENST00000270570;ENST00000457293;ENST00000542886;ENST00000395585	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2493	0.87038	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC47A1	19386297	1.000000	0.71417	0.998000	0.56505	0.726000	0.41606	8.864000	0.92294	2.334000	0.79466	0.650000	0.86243	.		0.577	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242	Intron	28	50	0	0	0	1	0	28	50				
DMRT3	58524	broad.mit.edu	37	9	990958	990958	+	Missense_Mutation	SNP	G	G	A	rs554739680		TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:990958G>A	ENST00000190165.2	+	2	1410	c.1372G>A	c.(1372-1374)Gag>Aag	p.E458K		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	458					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CGACTATGACGAGAGGTCTGA	0.522																																						ENST00000190165.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1372-1374)Gag>Aag		doublesex and mab-3 related transcription factor 3							101.0	100.0	100.0					9																	990958		2203	4300	6503	SO:0001583	missense	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990958G>A	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.1372G>A	9.37:g.990958G>A	ENSP00000190165:p.Glu458Lys						p.E458K	NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	1410	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	458					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	c.1372G>A	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.309501	0.60414	.	.	ENSG00000064218	ENST00000190165	T	0.31510	1.49	5.22	5.22	0.72569	.	0.119764	0.56097	D	0.000030	T	0.23014	0.0556	L	0.29908	0.895	0.58432	D	0.999996	P	0.44090	0.826	B	0.31869	0.137	T	0.10132	-1.0643	10	0.72032	D	0.01	-30.7242	18.7972	0.91999	0.0:0.0:1.0:0.0	.	458	Q9NQL9	DMRT3_HUMAN	K	458	ENSP00000190165:E458K	ENSP00000190165:E458K	E	+	1	0	DMRT3	980958	1.000000	0.71417	0.569000	0.28460	0.902000	0.53008	9.173000	0.94815	2.424000	0.82194	0.655000	0.94253	GAG		0.522	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		54	54	0	0	0	1	0	54	54				
SPTA1	6708	broad.mit.edu	37	1	158587333	158587333	+	Silent	SNP	T	T	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:158587333T>G	ENST00000368147.4	-	47	6774	c.6594A>C	c.(6592-6594)gcA>gcC	p.A2198A		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2198					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTACTTTATTTGCTTCCAGCT	0.343																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(6592-6594)gcA>gcC		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							115.0	106.0	109.0					1																	158587333		1845	4088	5933	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158587333T>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6594A>C	1.37:g.158587333T>G						SPTA1_ENST00000368147.3_Silent_p.A2195A	p.A2198A	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			47	6774	-	all_hematologic(112;0.0378)		2198					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.6594A>C	CCDS41423.1																																																																																				0.343	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		6	33	0	0	0	1	0	6	33				
PLA2G4E	123745	broad.mit.edu	37	15	42298268	42298268	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr15:42298268G>A	ENST00000399518.3	-	4	931	c.445C>T	c.(445-447)Cat>Tat	p.H149Y	CTD-2382E5.2_ENST00000552704.1_RNA|PLA2G4E_ENST00000413860.2_Missense_Mutation_p.H120Y	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	131					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GTCAGGAGATGGTCATCTGGT	0.522																																						ENST00000399518.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16						c.(445-447)Cat>Tat		phospholipase A2, group IVE							136.0	145.0	142.0					15																	42298268		2146	4259	6405	SO:0001583	missense	123745				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42298268G>A		CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000399518.3:c.445C>T	15.37:g.42298268G>A	ENSP00000382434:p.His149Tyr					PLA2G4E_ENST00000413860.2_Missense_Mutation_p.H120Y	p.H149Y	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)	4	931	-		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)	131					Q6ZSC0	Missense_Mutation	SNP	ENST00000399518.3	37	c.445C>T	CCDS55962.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.642600	0.29246	.	.	ENSG00000188089	ENST00000399518;ENST00000413860	T;T	0.68624	1.14;-0.34	5.66	5.66	0.87406	.	0.000000	0.64402	U	0.000013	T	0.65322	0.2680	N	0.16368	0.405	0.36937	D	0.892201	D	0.69078	0.997	D	0.64506	0.926	T	0.59731	-0.7399	10	0.02654	T	1	-6.5692	18.5269	0.90975	0.0:0.0:1.0:0.0	.	120	C9JK77	.	Y	149;120	ENSP00000382434:H149Y;ENSP00000413897:H120Y	ENSP00000382434:H149Y	H	-	1	0	PLA2G4E	40085560	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.003000	0.70701	2.665000	0.90641	0.563000	0.77884	CAT		0.522	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	NM_198442		28	34	0	0	0	1	0	28	34				
HELZ2	85441	broad.mit.edu	37	20	62202052	62202052	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr20:62202052T>A	ENST00000467148.1	-	2	517	c.448A>T	c.(448-450)Agt>Tgt	p.S150C	HELZ2_ENST00000479540.1_5'UTR|HELZ2_ENST00000427522.2_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	150					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										AGGACCTCACTGCTGCTGCGC	0.701																																						ENST00000467148.1																			0											c.(448-450)Agt>Tgt		helicase with zinc finger 2, transcriptional coactivator							19.0	17.0	18.0					20																	62202052		2199	4293	6492	SO:0001583	missense	85441							g.chr20:62202052T>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.448A>T	20.37:g.62202052T>A	ENSP00000417401:p.Ser150Cys					HELZ2_ENST00000479540.1_5'UTR	p.S150C	NM_001037335.2	NP_001032412.2					2	517	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.448A>T	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	T	12.98	2.101145	0.37048	.	.	ENSG00000130589	ENST00000467148	T	0.02974	4.09	4.22	4.22	0.49857	.	0.515918	0.19368	N	0.115964	T	0.02304	0.0071	N	0.25890	0.77	0.24899	N	0.99211	P;B	0.38440	0.631;0.049	B;B	0.32624	0.149;0.013	T	0.46938	-0.9155	10	0.48119	T	0.1	-4.4015	8.6421	0.33983	0.1707:0.0:0.0:0.8292	.	150;150	Q4VXQ0;Q9BYK8	.;PR285_HUMAN	C	150	ENSP00000417401:S150C	ENSP00000417401:S150C	S	-	1	0	RP4-697K14.7	61672496	0.863000	0.29885	0.635000	0.29338	0.141000	0.21300	1.376000	0.34306	1.574000	0.49760	0.456000	0.33151	AGT		0.701	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		8	14	0	0	0	1	0	8	14				
SI	6476	broad.mit.edu	37	3	164748525	164748525	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:164748525G>T	ENST00000264382.3	-	25	2929	c.2867C>A	c.(2866-2868)aCa>aAa	p.T956K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	956	Isomaltase.|P-type 2. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GCCACGTTGTGTGCACTTTTG	0.308										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(2866-2868)aCa>aAa		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						105.0	111.0	109.0					3																	164748525		2203	4297	6500	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164748525G>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2867C>A	3.37:g.164748525G>T	ENSP00000264382:p.Thr956Lys	HNSCC(35;0.089)					p.T956K	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			25	2929	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	956			Isomaltase.|P-type 2.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.2867C>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.750648	0.00086	.	.	ENSG00000090402	ENST00000264382	D	0.82803	-1.65	4.94	-9.87	0.00470	Glycoside hydrolase-type carbohydrate-binding (1);P-type trefoil (4);	3.669430	0.00932	N	0.002736	T	0.61899	0.2384	N	0.16130	0.375	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.52931	-0.8509	10	0.15066	T	0.55	.	1.4785	0.02431	0.1562:0.1729:0.2436:0.4273	.	956	P14410	SUIS_HUMAN	K	956	ENSP00000264382:T956K	ENSP00000264382:T956K	T	-	2	0	SI	166231219	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.245000	0.00542	-7.472000	0.00001	-4.380000	0.00006	ACA		0.308	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		41	132	1	0	2.35958e-20	1	3.08946e-20	41	132				
CSMD3	114788	broad.mit.edu	37	8	113402995	113402995	+	Silent	SNP	A	A	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:113402995A>G	ENST00000297405.5	-	36	6076	c.5832T>C	c.(5830-5832)acT>acC	p.T1944T	CSMD3_ENST00000352409.3_Silent_p.T1874T|CSMD3_ENST00000455883.2_Silent_p.T1840T|CSMD3_ENST00000343508.3_Silent_p.T1904T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1944	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTTTGCGCTTAGTTAAAATTC	0.418										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(5830-5832)acT>acC		CUB and Sushi multiple domains 3							82.0	75.0	78.0					8																	113402995		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113402995A>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5832T>C	8.37:g.113402995A>G		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Silent_p.T1904T|CSMD3_ENST00000352409.3_Silent_p.T1874T|CSMD3_ENST00000455883.2_Silent_p.T1840T	p.T1944T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			36	6076	-			1944			CUB 11.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.5832T>C	CCDS6315.1																																																																																				0.418	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		18	19	0	0	0	1	0	18	19				
CDK8	1024	broad.mit.edu	37	13	26959403	26959403	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr13:26959403G>T	ENST00000381527.3	+	6	1073	c.570G>T	c.(568-570)ttG>ttT	p.L190F	CDK8_ENST00000536792.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	190	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		TAGCAGATTTGGATCCAGTGG	0.358																																						ENST00000381527.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25						c.(568-570)ttG>ttT		cyclin-dependent kinase 8							92.0	92.0	92.0					13																	26959403		2203	4300	6503	SO:0001583	missense	1024				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr13:26959403G>T	X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"""Cyclin-dependent kinases"""	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.570G>T	13.37:g.26959403G>T	ENSP00000370938:p.Leu190Phe					CDK8_ENST00000536792.1_3'UTR	p.L190F	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)	6	1073	+	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	190			Protein kinase.		Q5VUF3|Q6ISB5	Missense_Mutation	SNP	ENST00000381527.3	37	c.570G>T	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413421	0.62511	.	.	ENSG00000132964	ENST00000381527	T	0.48522	0.81	5.72	5.72	0.89469	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.64238	0.2580	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.64931	-0.6291	10	0.62326	D	0.03	-7.5541	13.1152	0.59295	0.0732:0.0:0.9268:0.0	.	190;190	P49336-2;P49336	.;CDK8_HUMAN	F	190	ENSP00000370938:L190F	ENSP00000370938:L190F	L	+	3	2	CDK8	25857403	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.227000	0.58612	2.695000	0.91970	0.650000	0.86243	TTG		0.358	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1			39	20	1	0	3.78316e-11	1	4.42801e-11	39	20				
ZBED9	114821	broad.mit.edu	37	6	28554374	28554374	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr6:28554374G>T	ENST00000452236.2	-	1	738	c.121C>A	c.(121-123)Cgt>Agt	p.R41S	RP5-1186N24.3_ENST00000499525.1_RNA|SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						AAATTCCTACGTAGGGCTGAT	0.522																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(121-123)Cgt>Agt		SCAN domain containing 3							120.0	111.0	114.0					6																	28554374		2203	4300	6503	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28554374G>T																												ENST00000452236.2:c.121C>A	6.37:g.28554374G>T	ENSP00000395259:p.Arg41Ser					SCAND3_ENST00000530247.1_Intron	p.R41S	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			1	738	-			41						Missense_Mutation	SNP	ENST00000452236.2	37	c.121C>A	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	G	6.710	0.499635	0.12762	.	.	ENSG00000232040	ENST00000452236	T	0.01446	4.88	3.33	1.52	0.23074	.	.	.	.	.	T	0.00412	0.0013	N	0.11064	0.09	0.09310	N	1	B	0.16396	0.017	B	0.16722	0.016	T	0.44345	-0.9334	9	0.40728	T	0.16	.	5.3214	0.15883	0.381:0.0:0.619:0.0	.	41	Q6R2W3	SCND3_HUMAN	S	41	ENSP00000395259:R41S	ENSP00000395259:R41S	R	-	1	0	SCAND3	28662353	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.140000	0.16056	0.249000	0.21456	-0.251000	0.11542	CGT		0.522	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			14	93	1	0	0.000308642	1	0.000320035	14	93				
ZBP1	81030	broad.mit.edu	37	20	56189946	56189946	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr20:56189946G>A	ENST00000371173.3	-	4	676	c.499C>T	c.(499-501)Cca>Tca	p.P167S	ZBP1_ENST00000340462.4_Missense_Mutation_p.P144S|ZBP1_ENST00000541799.1_Missense_Mutation_p.P167S|ZBP1_ENST00000343535.4_Missense_Mutation_p.P167S|ZBP1_ENST00000395822.3_Missense_Mutation_p.P92S|ZBP1_ENST00000538947.1_5'Flank	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	167					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GGCCTACCTGGGCGGTAAATC	0.552																																						ENST00000340462.4																			0				large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(430-432)Cca>Tca		Z-DNA binding protein 1							129.0	105.0	113.0					20																	56189946		2203	4300	6503	SO:0001583	missense	81030					cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding	g.chr20:56189946G>A	AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"""DNA-dependent activator of IRFs"""	606750	"""chromosome 20 open reading frame 183"""	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.499C>T	20.37:g.56189946G>A	ENSP00000360215:p.Pro167Ser					ZBP1_ENST00000343535.4_Missense_Mutation_p.P167S|ZBP1_ENST00000371173.3_Missense_Mutation_p.P167S|ZBP1_ENST00000541799.1_Missense_Mutation_p.P167S|ZBP1_ENST00000395822.3_Missense_Mutation_p.P92S	p.P144S			Q9H171	ZBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)		3	710	-	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		167					A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Missense_Mutation	SNP	ENST00000371173.3	37	c.430C>T	CCDS13461.1	.	.	.	.	.	.	.	.	.	.	G	8.427	0.847712	0.17034	.	.	ENSG00000124256	ENST00000371173;ENST00000395822;ENST00000340462;ENST00000357677;ENST00000343535;ENST00000541799	T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63	3.39	-1.08	0.09936	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.575838	0.14664	N	0.305773	T	0.09468	0.0233	N	0.12182	0.205	0.09310	N	0.999999	P;P;P;P	0.40332	0.713;0.59;0.59;0.59	B;B;B;B	0.33339	0.162;0.078;0.113;0.078	T	0.17107	-1.0380	10	0.15066	T	0.55	.	0.506	0.00587	0.2481:0.1964:0.3548:0.2007	.	167;167;92;167	F5GYT1;A2RRL9;A2A2F7;Q9H171	.;.;.;ZBP1_HUMAN	S	167;92;144;167;167;167	ENSP00000360215:P167S;ENSP00000379167:P92S;ENSP00000344954:P144S;ENSP00000340584:P167S;ENSP00000440552:P167S	ENSP00000344954:P144S	P	-	1	0	ZBP1	55623352	0.772000	0.28567	0.048000	0.18961	0.190000	0.23558	0.850000	0.27737	-0.156000	0.11079	-0.181000	0.13052	CCA		0.552	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776		39	77	0	0	0	1	0	39	77				
NSD1	64324	broad.mit.edu	37	5	176707633	176707633	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:176707633G>T	ENST00000439151.2	+	18	5735	c.5690G>T	c.(5689-5691)tGt>tTt	p.C1897F	NSD1_ENST00000354179.4_Missense_Mutation_p.C1628F|NSD1_ENST00000347982.4_Missense_Mutation_p.C1628F|NSD1_ENST00000361032.4_Missense_Mutation_p.C1794F	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1897	AWS. {ECO:0000255|PROSITE- ProRule:PRU00562}.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		CGTTGCAACTGTAAAGCTACT	0.498			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(5689-5691)tGt>tTt		nuclear receptor binding SET domain protein 1							109.0	102.0	105.0					5																	176707633		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176707633G>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5690G>T	5.37:g.176707633G>T	ENSP00000395929:p.Cys1897Phe	HNSCC(47;0.14)				NSD1_ENST00000354179.4_Missense_Mutation_p.C1628F|NSD1_ENST00000347982.4_Missense_Mutation_p.C1628F|NSD1_ENST00000361032.4_Missense_Mutation_p.C1794F	p.C1897F	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	18	5735	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1897			AWS.		Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.5690G>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357802	0.82243	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15	5.68	5.68	0.88126	AWS (2);	0.000000	0.64402	D	0.000003	D	0.98024	0.9349	H	0.96175	3.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98799	1.0739	10	0.87932	D	0	.	19.7917	0.96461	0.0:0.0:1.0:0.0	.	1628;1794;1897	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	F	1628;1897;1628;1794	ENSP00000346111:C1628F;ENSP00000395929:C1897F;ENSP00000343209:C1628F;ENSP00000354310:C1794F	ENSP00000343209:C1628F	C	+	2	0	NSD1	176640239	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	9.869000	0.99810	2.685000	0.91497	0.650000	0.86243	TGT		0.498	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		40	75	1	0	1.49673e-21	1	1.98494e-21	40	75				
SLC7A3	84889	broad.mit.edu	37	X	70146401	70146401	+	Silent	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chrX:70146401C>T	ENST00000374299.3	-	10	1740	c.1596G>A	c.(1594-1596)caG>caA	p.Q532Q	SLC7A3_ENST00000298085.4_Silent_p.Q532Q			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	532					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GAGTGGAACTCTGTGGCTGTC	0.473																																						ENST00000374299.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31						c.(1594-1596)caG>caA		solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						46.0	38.0	41.0					X																	70146401		2202	4296	6498	SO:0001819	synonymous_variant	84889				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane		g.chrX:70146401C>T	AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"""Solute carriers"""	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.1596G>A	X.37:g.70146401C>T						SLC7A3_ENST00000298085.4_Silent_p.Q532Q	p.Q532Q			Q8WY07	CTR3_HUMAN			10	1740	-	Renal(35;0.156)		532					D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Silent	SNP	ENST00000374299.3	37	c.1596G>A	CCDS14404.1																																																																																				0.473	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803		3	5	0	0	0	1	0	3	5				
LDLRAD1	388633	broad.mit.edu	37	1	54483764	54483764	+	Splice_Site	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:54483764C>T	ENST00000371360.1	-	1	39		c.e1+1		LDLRAD1_ENST00000420619.1_Splice_Site|LDLRAD1_ENST00000371362.3_Splice_Site|LDLRAD1_ENST00000545928.1_Splice_Site	NM_001010978.2	NP_001010978.2	Q5T700	LRAD1_HUMAN	low density lipoprotein receptor class A domain containing 1							integral component of membrane (GO:0016021)				large_intestine(3)|prostate(1)|skin(3)	7						ACAGCTCTCACCTGGGGGAAG	0.577																																						ENST00000371360.1																			0				large_intestine(3)|prostate(1)|skin(3)	7						c.e1+1		low density lipoprotein receptor class A domain containing 1							117.0	97.0	104.0					1																	54483764		2203	4300	6503	SO:0001630	splice_region_variant	388633					integral to membrane	receptor activity	g.chr1:54483764C>T		CCDS30725.1, CCDS60145.1, CCDS60146.1, CCDS60147.1	1p32.3	2008-02-05	2005-10-07		ENSG00000203985	ENSG00000203985			32069	protein-coding gene	gene with protein product			"""low density lipoprotein receptor A domain containing 1"""				Standard	NM_001010978		Approved		uc001cwm.2	Q5T700	OTTHUMG00000008433	ENST00000371360.1:c.21+1G>A	1.37:g.54483764C>T						LDLRAD1_ENST00000420619.1_Splice_Site|LDLRAD1_ENST00000545928.1_Splice_Site|LDLRAD1_ENST00000371362.3_Splice_Site		NM_001010978.2	NP_001010978.2	Q5T700	LRAD1_HUMAN			1	39	-								A0PJY0|B7ZME3|Q5T6Z9	Splice_Site	SNP	ENST00000371360.1	37		CCDS30725.1	.	.	.	.	.	.	.	.	.	.	C	5.607	0.296807	0.10622	.	.	ENSG00000203985	ENST00000371362;ENST00000371360;ENST00000545928;ENST00000420619	.	.	.	3.26	2.34	0.29019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.1115	0.14811	0.0:0.7339:0.0:0.2661	.	.	.	.	.	-1	.	.	.	-	.	.	LDLRAD1	54256352	1.000000	0.71417	0.854000	0.33618	0.191000	0.23601	3.234000	0.51320	0.954000	0.37851	0.491000	0.48974	.		0.577	LDLRAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023243.1	NM_001010978	Intron	15	28	0	0	0	1	0	15	28				
OR4M1	441670	broad.mit.edu	37	14	20249049	20249049	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr14:20249049G>T	ENST00000315957.4	+	1	649	c.568G>T	c.(568-570)Gcc>Tcc	p.A190S		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GATTGCCTGTGCCAACACCTT	0.468																																						ENST00000315957.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42						c.(568-570)Gcc>Tcc		olfactory receptor, family 4, subfamily M, member 1							310.0	272.0	285.0					14																	20249049		2203	4297	6500	SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20249049G>T		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.568G>T	14.37:g.20249049G>T	ENSP00000319654:p.Ala190Ser						p.A190S	NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	649	+	all_cancers(95;0.00108)		190					B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.568G>T	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	11.45	1.641443	0.29157	.	.	ENSG00000176299	ENST00000315957	T	0.00024	8.98	3.87	3.87	0.44632	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000144	T	0.00073	0.0002	N	0.02721	-0.515	0.28843	N	0.896499	B	0.29909	0.261	B	0.30251	0.113	T	0.11348	-1.0591	10	0.45353	T	0.12	-5.2386	7.5626	0.27860	0.1131:0.0:0.8869:0.0	.	190	Q8NGD0	OR4M1_HUMAN	S	190	ENSP00000319654:A190S	ENSP00000319654:A190S	A	+	1	0	OR4M1	19318889	0.000000	0.05858	1.000000	0.80357	0.973000	0.67179	-0.185000	0.09684	2.464000	0.83262	0.506000	0.49869	GCC		0.468	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			63	292	1	0	1.79293e-35	1	2.56489e-35	63	292				
MYH2	4620	broad.mit.edu	37	17	10443311	10443311	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:10443311G>T	ENST00000245503.5	-	12	1465	c.1081C>A	c.(1081-1083)Cat>Aat	p.H361N	MYH2_ENST00000532183.2_Missense_Mutation_p.H361N|MYH2_ENST00000397183.2_Missense_Mutation_p.H361N|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	361	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTCCCATAATGCATCACAGCC	0.413																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(1081-1083)Cat>Aat		myosin, heavy chain 2, skeletal muscle, adult							191.0	176.0	181.0					17																	10443311		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10443311G>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1081C>A	17.37:g.10443311G>T	ENSP00000245503:p.His361Asn					MYH2_ENST00000397183.2_Missense_Mutation_p.H361N|MYH2_ENST00000532183.1_Missense_Mutation_p.H361N|CTC-297N7.7_ENST00000587182.1_RNA	p.H361N	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			12	1465	-			361			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.1081C>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941023	0.92526	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	T;T;T	0.74737	-0.87;-0.87;-0.87	5.03	5.03	0.67393	Myosin head, motor domain (2);	0.000000	0.40385	U	0.001105	D	0.90428	0.7003	H	0.95437	3.67	0.58432	D	0.999999	D;D	0.76494	0.986;0.999	D;D	0.87578	0.997;0.998	D	0.92549	0.6048	10	0.62326	D	0.03	.	17.8989	0.88897	0.0:0.0:1.0:0.0	.	361;361	Q567P6;Q9UKX2	.;MYH2_HUMAN	N	361	ENSP00000433944:H361N;ENSP00000245503:H361N;ENSP00000380367:H361N	ENSP00000245503:H361N	H	-	1	0	MYH2	10384036	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.601000	0.98297	2.787000	0.95880	0.650000	0.86243	CAT		0.413	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		55	146	1	0	1.39843e-22	1	1.87063e-22	55	146				
PSMD4	5710	broad.mit.edu	37	1	151238835	151238835	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:151238835G>A	ENST00000368884.3	+	8	895	c.815G>A	c.(814-816)cGc>cAc	p.R272H	PSMD4_ENST00000368881.4_Missense_Mutation_p.R275H	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	272					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, base subcomplex (GO:0008540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAGTTTGGCCGCACTGGGCTT	0.547																																						ENST00000368884.3																			0				breast(2)|endometrium(1)|kidney(1)|lung(7)	11						c.(814-816)cGc>cAc		proteasome (prosome, macropain) 26S subunit, non-ATPase, 4																																				SO:0001583	missense	5710				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding	g.chr1:151238835G>A	U51007	CCDS991.1	1q21.2	2008-05-22			ENSG00000159352	ENSG00000159352		"""Proteasome (prosome, macropain) subunits"""	9561	protein-coding gene	gene with protein product		601648				8641424	Standard	XM_005245354		Approved	S5A, AF-1, AF, Rpn10	uc001exl.3	P55036	OTTHUMG00000012349	ENST00000368884.3:c.815G>A	1.37:g.151238835G>A	ENSP00000357879:p.Arg272His					PSMD4_ENST00000368881.4_Missense_Mutation_p.R275H	p.R272H	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		8	895	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		272					D3DV16|Q5VWC5|Q9NS92	Missense_Mutation	SNP	ENST00000368884.3	37	c.815G>A	CCDS991.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098238	0.56183	.	.	ENSG00000159352	ENST00000368884;ENST00000368881	.	.	.	5.23	5.23	0.72850	.	0.227301	0.36303	N	0.002675	T	0.40522	0.1120	L	0.29908	0.895	0.42288	D	0.992129	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.23583	-1.0184	9	0.42905	T	0.14	-14.4967	18.5873	0.91194	0.0:0.0:1.0:0.0	.	275;272	Q5VWC4;P55036	.;PSMD4_HUMAN	H	272;275	.	ENSP00000357876:R275H	R	+	2	0	PSMD4	149505459	0.972000	0.33761	0.659000	0.29680	0.998000	0.95712	3.889000	0.56212	2.716000	0.92895	0.655000	0.94253	CGC		0.547	PSMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034409.3	NM_002810		5	176	0	0	0	1	0	5	176				
CEP85L	387119	broad.mit.edu	37	6	118790383	118790383	+	Silent	SNP	G	G	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr6:118790383G>C	ENST00000368491.3	-	12	2727	c.2106C>G	c.(2104-2106)tcC>tcG	p.S702S	CEP85L_ENST00000368488.5_Silent_p.S705S	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	702						centrosome (GO:0005813)|cytoplasm (GO:0005737)											GTGGCCGTTTGGAAAGAACTG	0.408																																						ENST00000368491.3																			0											c.(2104-2106)tcC>tcG		centrosomal protein 85kDa-like							172.0	161.0	165.0					6																	118790383		1902	4134	6036	SO:0001819	synonymous_variant	387119					centrosome		g.chr6:118790383G>C	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.2106C>G	6.37:g.118790383G>C						CEP85L_ENST00000368488.5_Silent_p.S705S	p.S702S	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN			12	2727	-			702					A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Silent	SNP	ENST00000368491.3	37	c.2106C>G	CCDS43498.1																																																																																				0.408	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		55	81	0	0	0	1	0	55	81				
GSDMB	55876	broad.mit.edu	37	17	38073423	38073423	+	Silent	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:38073423G>A	ENST00000394179.1	-	2	277	c.147C>T	c.(145-147)tgC>tgT	p.C49C	GSDMB_ENST00000418519.1_Silent_p.C49C|GSDMB_ENST00000360317.3_Silent_p.C49C|GSDMB_ENST00000394175.2_Silent_p.C49C|GSDMB_ENST00000309481.7_Silent_p.C49C|GSDMB_ENST00000520542.1_Silent_p.C49C			Q8TAX9	GSDMB_HUMAN	gasdermin B	49						cytoplasm (GO:0005737)				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						TGTAGTGCCGGCATCCAAAGA	0.507																																						ENST00000394175.2																			0				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						c.(145-147)tgC>tgT		gasdermin B							193.0	172.0	179.0					17																	38073423		2203	4300	6503	SO:0001819	synonymous_variant	55876					cytoplasm		g.chr17:38073423G>A	AF119884	CCDS11354.1, CCDS42313.1, CCDS54119.1, CCDS54120.1	17q21.2	2008-07-31	2008-07-31	2008-07-31	ENSG00000073605	ENSG00000073605			23690	protein-coding gene	gene with protein product		611221	"""gasdermin-like"""	GSDML		12883658, 15010812, 17350798	Standard	NM_001042471		Approved	PRO2521	uc010cwj.3	Q8TAX9	OTTHUMG00000133248	ENST00000394179.1:c.147C>T	17.37:g.38073423G>A						GSDMB_ENST00000520542.1_Silent_p.C49C|GSDMB_ENST00000418519.1_Silent_p.C49C|GSDMB_ENST00000394179.1_Silent_p.C49C|GSDMB_ENST00000360317.3_Silent_p.C49C|GSDMB_ENST00000309481.7_Silent_p.C49C	p.C49C	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN			1	370	-			49					B4DKK7|Q7Z377|Q8WY76|Q9NX71|Q9P163	Silent	SNP	ENST00000394179.1	37	c.147C>T																																																																																					0.507	GSDMB-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_018530		4	187	0	0	0	1	0	4	187				
ATP10A	57194	broad.mit.edu	37	15	25925343	25925343	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr15:25925343G>T	ENST00000356865.6	-	20	3902	c.3791C>A	c.(3790-3792)aCt>aAt	p.T1264N		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1264					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGCTTGCATAGTCCAGTAAGG	0.532																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(3790-3792)aCt>aAt		ATPase, class V, type 10A							168.0	148.0	155.0					15																	25925343		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25925343G>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3791C>A	15.37:g.25925343G>T	ENSP00000349325:p.Thr1264Asn						p.T1264N	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	20	3902	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1264					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.3791C>A	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963581	0.53507	.	.	ENSG00000206190	ENST00000356865	D	0.87809	-2.3	5.07	1.94	0.25998	.	0.153319	0.56097	D	0.000022	D	0.82309	0.5009	M	0.70595	2.14	0.38694	D	0.952837	P	0.40909	0.732	B	0.34038	0.174	T	0.81437	-0.0933	10	0.87932	D	0	-22.4586	8.3517	0.32305	0.1288:0.2503:0.6209:0.0	.	1264	O60312	AT10A_HUMAN	N	1264	ENSP00000349325:T1264N	ENSP00000349325:T1264N	T	-	2	0	ATP10A	23476436	1.000000	0.71417	0.966000	0.40874	0.682000	0.39822	3.831000	0.55776	0.576000	0.29452	0.655000	0.94253	ACT		0.532	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		56	59	1	0	1.11015e-26	1	1.53141e-26	56	59				
CFAP54	144535	broad.mit.edu	37	12	97084960	97084960	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr12:97084960T>C	ENST00000524981.4	+	44	6159	c.6136T>C	c.(6136-6138)Tat>Cat	p.Y2046H				Q96N23	CL055_HUMAN		0																	CTATGCTCAATATGAAATCAC	0.373																																						ENST00000524981.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(1489-1491)Tat>Cat									137.0	126.0	130.0					12																	97084960		2203	4300	6503	SO:0001583	missense	144535							g.chr12:97084960T>C																												ENST00000524981.4:c.6136T>C	12.37:g.97084960T>C	ENSP00000431759:p.Tyr2046His						p.Y497H			Q6ZTY8	CL063_HUMAN			11	1489	+			471						Missense_Mutation	SNP	ENST00000524981.4	37	c.1489T>C		.	.	.	.	.	.	.	.	.	.	T	15.12	2.738110	0.49045	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.73	5.73	0.89815	.	0.186444	0.47852	D	0.000211	T	0.80576	0.4649	.	.	.	0.39614	D	0.96992	D	0.89917	1.0	D	0.91635	0.999	D	0.84164	0.0430	8	0.87932	D	0	-24.2806	16.3197	0.82945	0.0:0.0:0.0:1.0	.	471	Q6ZTY8	CL063_HUMAN	H	2046;471	.	ENSP00000345466:Y471H	Y	+	1	0	C12orf63	95609091	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	5.299000	0.65716	2.302000	0.77476	0.533000	0.62120	TAT		0.373	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			14	41	0	0	0	1	0	14	41				
MYOC	4653	broad.mit.edu	37	1	171621464	171621464	+	Missense_Mutation	SNP	C	C	A	rs202052242		TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:171621464C>A	ENST00000037502.6	-	1	359	c.288G>T	c.(286-288)gaG>gaT	p.E96D		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	96					bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GGAGGAGGCTCTCCAGGGAGC	0.632																																						ENST00000037502.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28						c.(286-288)gaG>gaT		myocilin, trabecular meshwork inducible glucocorticoid response							76.0	68.0	71.0					1																	171621464		2203	4300	6503	SO:0001583	missense	4653				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	g.chr1:171621464C>A	BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.288G>T	1.37:g.171621464C>A	ENSP00000037502:p.Glu96Asp						p.E96D	NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN			1	347	-	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		96					B2RD84|O00620|Q7Z6Q9	Missense_Mutation	SNP	ENST00000037502.6	37	c.288G>T	CCDS1297.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458854	0.84317	.	.	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000536591;ENST00000537133	T	0.61627	0.09	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.70465	0.3227	M	0.76002	2.32	0.49582	D	0.999803	D	0.89917	1.0	D	0.80764	0.994	T	0.74028	-0.3796	10	0.87932	D	0	.	14.8231	0.70087	0.0:1.0:0.0:0.0	.	96	Q99972	MYOC_HUMAN	D	96;96;29;96	ENSP00000037502:E96D	ENSP00000037502:E96D	E	-	3	2	MYOC	169888087	1.000000	0.71417	0.973000	0.42090	0.874000	0.50279	3.748000	0.55142	2.633000	0.89246	0.655000	0.94253	GAG		0.632	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2	NM_000261		33	72	1	0	2.08457e-15	1	2.62911e-15	33	72				
RGS18	64407	broad.mit.edu	37	1	192153620	192153620	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:192153620G>C	ENST00000367460.3	+	5	825	c.644G>C	c.(643-645)cGa>cCa	p.R215P		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	215					G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTTAGGAGACGATCACGCTCA	0.358																																						ENST00000367460.3																			0				kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(643-645)cGa>cCa		regulator of G-protein signaling 18							101.0	93.0	96.0					1																	192153620		2203	4299	6502	SO:0001583	missense	64407				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192153620G>C	AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"""Regulators of G-protein signaling"""	14261	protein-coding gene	gene with protein product		607192	"""regulator of G-protein signalling 18"""			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.644G>C	1.37:g.192153620G>C	ENSP00000356430:p.Arg215Pro						p.R215P	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN			5	825	+			215					B2RD23	Missense_Mutation	SNP	ENST00000367460.3	37	c.644G>C	CCDS1374.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517042	0.85495	.	.	ENSG00000150681	ENST00000367460	T	0.55413	0.52	5.62	5.62	0.85841	.	0.053393	0.64402	D	0.000001	T	0.64746	0.2626	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66412	-0.5930	10	0.72032	D	0.01	.	16.3945	0.83586	0.0:0.0:1.0:0.0	.	215	Q9NS28	RGS18_HUMAN	P	215	ENSP00000356430:R215P	ENSP00000356430:R215P	R	+	2	0	RGS18	190420243	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.823000	0.62694	2.648000	0.89879	0.563000	0.77884	CGA		0.358	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086382.1	NM_130782		27	59	0	0	0	1	0	27	59				
TMEM202	338949	broad.mit.edu	37	15	72699075	72699075	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr15:72699075T>G	ENST00000341689.3	+	3	524	c.470T>G	c.(469-471)aTg>aGg	p.M157R	TMEM202_ENST00000567679.1_3'UTR	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	157						integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						AAGGTATCCATGCTCAGCTTC	0.438																																						ENST00000341689.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(469-471)aTg>aGg		transmembrane protein 202							137.0	131.0	133.0					15																	72699075		2199	4297	6496	SO:0001583	missense	338949					integral to membrane		g.chr15:72699075T>G		CCDS32287.1	15q24.1	2007-12-18				ENSG00000187806			33733	protein-coding gene	gene with protein product							Standard	NM_001080462		Approved	FLJ27523	uc002auq.3	A6NGA9		ENST00000341689.3:c.470T>G	15.37:g.72699075T>G	ENSP00000340212:p.Met157Arg					TMEM202_ENST00000567679.1_3'UTR	p.M157R	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN			3	524	+			157						Missense_Mutation	SNP	ENST00000341689.3	37	c.470T>G	CCDS32287.1	.	.	.	.	.	.	.	.	.	.	T	13.07	2.126133	0.37533	.	.	ENSG00000187806	ENST00000341689	T	0.62639	0.01	5.42	4.3	0.51218	.	0.760447	0.12465	N	0.466562	T	0.56366	0.1980	L	0.46157	1.445	0.80722	D	1	P	0.43094	0.799	B	0.41764	0.366	T	0.55554	-0.8123	10	0.72032	D	0.01	-1.8769	8.069	0.30678	0.0:0.0894:0.0:0.9106	.	157	A6NGA9	TM202_HUMAN	R	157	ENSP00000340212:M157R	ENSP00000340212:M157R	M	+	2	0	TMEM202	70486129	0.994000	0.37717	0.982000	0.44146	0.945000	0.59286	3.076000	0.50081	1.074000	0.40909	-0.290000	0.09829	ATG		0.438	TMEM202-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435756.1	NM_001080462		25	60	0	0	0	1	0	25	60				
DENND4C	55667	broad.mit.edu	37	9	19350802	19350802	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:19350802G>A	ENST00000380432.2	+	19	3598	c.3565G>A	c.(3565-3567)Gaa>Aaa	p.E1189K	DENND4C_ENST00000434457.2_Missense_Mutation_p.E1474K|DENND4C_ENST00000602925.1_Missense_Mutation_p.E1425K			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1189					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GGTCCCCAGTGAACTTACCCA	0.453																																						ENST00000307015.9																			0				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1984-1986)Gaa>Aaa		DENN/MADD domain containing 4C							163.0	153.0	156.0					9																	19350802		2203	4300	6503	SO:0001583	missense	55667					integral to membrane		g.chr9:19350802G>A	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.3565G>A	9.37:g.19350802G>A	ENSP00000369797:p.Glu1189Lys					DENND4C_ENST00000380432.2_Missense_Mutation_p.E1189K|DENND4C_ENST00000434457.2_Missense_Mutation_p.E1474K|DENND4C_ENST00000540671.1_Missense_Mutation_p.E519K|DENND4C_ENST00000602925.1_Missense_Mutation_p.E1425K	p.E662K			Q5VZ89	DEN4C_HUMAN			20	3736	+			1189					A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37	c.1984G>A		.	.	.	.	.	.	.	.	.	.	G	25.3	4.621842	0.87460	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000453857;ENST00000540671;ENST00000380432;ENST00000380427;ENST00000361024;ENST00000380424	T;T	0.24538	1.85;1.85	5.61	5.61	0.85477	.	0.925930	0.08902	U	0.877159	T	0.33614	0.0869	L	0.29908	0.895	0.58432	D	0.999996	P;P;P;P	0.49961	0.868;0.873;0.93;0.835	P;B;P;B	0.48952	0.596;0.306;0.57;0.211	T	0.17349	-1.0372	10	0.37606	T	0.19	-23.4651	19.6411	0.95758	0.0:0.0:1.0:0.0	.	519;1189;371;1189	B7Z660;Q5VZ89-5;Q5VZ89-3;Q5VZ89	.;.;.;DEN4C_HUMAN	K	1189;662;371;519;662;371;186;60	ENSP00000305795:E662K;ENSP00000443804:E519K	ENSP00000305795:E662K	E	+	1	0	DENND4C	19340802	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.472000	0.90407	2.630000	0.89119	0.655000	0.94253	GAA		0.453	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		5	81	0	0	0	1	0	5	81				
ASPH	444	broad.mit.edu	37	8	62438567	62438567	+	Silent	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:62438567C>T	ENST00000379454.4	-	22	2056	c.1869G>A	c.(1867-1869)ggG>ggA	p.G623G	ASPH_ENST00000541428.1_Silent_p.G594G	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	623					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GGCTCCAGTCCCCTTTTTCCC	0.493																																						ENST00000541428.1																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1780-1782)ggG>ggA		aspartate beta-hydroxylase	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						141.0	124.0	130.0					8																	62438567		2203	4300	6503	SO:0001819	synonymous_variant	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62438567C>T	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.1869G>A	8.37:g.62438567C>T						ASPH_ENST00000379454.4_Silent_p.G623G	p.G594G	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN			22	1942	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	623					A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Silent	SNP	ENST00000379454.4	37	c.1782G>A	CCDS34898.1																																																																																				0.493	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		42	67	0	0	0	1	0	42	67				
BCRP7	100133163	broad.mit.edu	37	22	18844766	18844766	+	3'UTR	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr22:18844766G>A	ENST00000412938.1	+	0	3016																											CAGCCTCTGAGGGCAGCAGTG	0.557																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	100133163							g.chr22:18844766G>A																												ENST00000412938.1:c.*3013G>A	22.37:g.18844766G>A														0	3016	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.557	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	18	0	0	0	1	0	4	18				
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101								p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.S101N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)aGt>aAt																																						SO:0001583	missense	284802							g.chr20:29628300G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.302G>A	20.37:g.29628300G>A	ENSP00000278882:p.Ser101Asn					FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N	p.S101N							6	682	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.302G>A		.	.	.	.	.	.	.	.	.	.	g	10.56	1.384968	0.25031	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	N	0.000001	T	0.33265	0.0857	.	.	.	0.40357	D	0.979199	B;B	0.16802	0.003;0.019	B;B	0.16289	0.007;0.015	T	0.20605	-1.0270	9	0.33940	T	0.23	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	N	101;106;101	ENSP00000408863:S106N	ENSP00000278882:S101N	S	+	2	0	FRG1B	28241961	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.004000	0.40854	1.475000	0.48197	0.423000	0.28283	AGT		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	108	0	0	0	1	0	4	108				
F9	2158	broad.mit.edu	37	X	138633414	138633414	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chrX:138633414C>A	ENST00000218099.2	+	6	721	c.714C>A	c.(712-714)ttC>ttA	p.F238L	F9_ENST00000394090.2_Missense_Mutation_p.F200L	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	238	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	CAGGTCAATTCCCTTGGCAGG	0.463																																						ENST00000218099.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35						c.(712-714)ttC>ttA		coagulation factor IX	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						104.0	84.0	91.0					X																	138633414		2203	4300	6503	SO:0001583	missense	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138633414C>A	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.714C>A	X.37:g.138633414C>A	ENSP00000218099:p.Phe238Leu					F9_ENST00000394090.2_Missense_Mutation_p.F200L	p.F238L	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN			6	721	+	Acute lymphoblastic leukemia(192;0.000127)		238			Peptidase S1.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	c.714C>A	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	C	8.584	0.882989	0.17467	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.93712	-3.27;-3.27	5.31	2.59	0.31030	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.379291	0.29838	N	0.011075	D	0.86192	0.5874	L	0.28054	0.825	0.27961	N	0.936773	B;B	0.18166	0.006;0.026	B;B	0.22601	0.04;0.017	T	0.75912	-0.3150	10	0.46703	T	0.11	.	5.6123	0.17412	0.0:0.6023:0.1412:0.2565	.	200;238	Q5FBE1;P00740	.;FA9_HUMAN	L	238;200	ENSP00000218099:F238L;ENSP00000377650:F200L	ENSP00000218099:F238L	F	+	3	2	F9	138461080	0.999000	0.42202	0.999000	0.59377	0.997000	0.91878	0.379000	0.20585	0.118000	0.18165	0.600000	0.82982	TTC		0.463	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			27	16	1	0	9.04412e-07	1	9.87503e-07	27	16				
SEC16A	9919	broad.mit.edu	37	9	139366549	139366549	+	Silent	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:139366549G>T	ENST00000371706.3	-	2	3081	c.3048C>A	c.(3046-3048)ctC>ctA	p.L1016L	SEC16A_ENST00000290037.6_Silent_p.L1016L|SEC16A_ENST00000313050.7_Silent_p.L1194L|SEC16A_ENST00000431893.2_Silent_p.L1016L			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1016	Required for endoplasmic reticulum localization.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GAGGCTCATAGAGGCTGTAGA	0.577																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(3580-3582)ctC>ctA		SEC16 homolog A (S. cerevisiae)							55.0	64.0	61.0					9																	139366549		2066	4207	6273	SO:0001819	synonymous_variant	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139366549G>T	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.3048C>A	9.37:g.139366549G>T						SEC16A_ENST00000371706.3_Silent_p.L1016L|SEC16A_ENST00000431893.2_Silent_p.L1016L|SEC16A_ENST00000290037.6_Silent_p.L1016L	p.L1194L	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	2	3655	-		Myeloproliferative disorder(178;0.0511)	1016			Required for endoplasmic reticulum localization.		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000371706.3	37	c.3582C>A																																																																																					0.577	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		6	66	1	0	5.18039e-06	1	5.55813e-06	6	66				
OR5H15	403274	broad.mit.edu	37	3	97887871	97887871	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:97887871A>T	ENST00000356526.2	+	1	328	c.328A>T	c.(328-330)Aca>Tca	p.T110S		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TGGCGTAACCACAGAATGTTT	0.393																																						ENST00000356526.2																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						c.(328-330)Aca>Tca		olfactory receptor, family 5, subfamily H, member 15							130.0	127.0	128.0					3																	97887871		2203	4298	6501	SO:0001583	missense	403274				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97887871A>T		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.328A>T	3.37:g.97887871A>T	ENSP00000373195:p.Thr110Ser						p.T110S	NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN			1	328	+			110						Missense_Mutation	SNP	ENST00000356526.2	37	c.328A>T	CCDS33799.1	.	.	.	.	.	.	.	.	.	.	-	4.806	0.149774	0.09185	.	.	ENSG00000233412	ENST00000356526;ENST00000454529	T	0.02140	4.43	2.48	1.26	0.21427	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000172	T	0.02929	0.0087	L	0.46947	1.48	0.09310	N	0.999998	P	0.45078	0.85	P	0.46208	0.507	T	0.43572	-0.9383	10	0.30854	T	0.27	.	5.6306	0.17508	0.8489:0.0:0.1511:0.0	.	110	A6NDH6	O5H15_HUMAN	S	110	ENSP00000373195:T110S	ENSP00000373195:T110S	T	+	1	0	OR5H15	99370561	0.000000	0.05858	0.951000	0.38953	0.036000	0.12997	-0.241000	0.08940	0.197000	0.20387	0.155000	0.16302	ACA		0.393	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			52	116	0	0	0	1	0	52	116				
BOD1L1	259282	broad.mit.edu	37	4	13617097	13617097	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr4:13617097C>A	ENST00000040738.5	-	3	533	c.398G>T	c.(397-399)cGa>cTa	p.R133L		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	133						nucleus (GO:0005634)	DNA binding (GO:0003677)										AGAAATAATTCGGTCAATACC	0.353																																						ENST00000040738.5																			0											c.(397-399)cGa>cTa		biorientation of chromosomes in cell division 1-like 1							113.0	111.0	112.0					4																	13617097		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13617097C>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.398G>T	4.37:g.13617097C>A	ENSP00000040738:p.Arg133Leu						p.R133L	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			3	533	-			133					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.398G>T	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	34	5.324689	0.95708	.	.	ENSG00000038219	ENST00000040738	T	0.16073	2.37	5.51	5.51	0.81932	.	0.000000	0.35151	N	0.003414	T	0.44973	0.1319	M	0.72353	2.195	0.53005	D	0.999966	D	0.89917	1.0	D	0.97110	1.0	T	0.34329	-0.9833	10	0.87932	D	0	-4.6752	19.7872	0.96444	0.0:1.0:0.0:0.0	.	133	Q8NFC6	BOD1L_HUMAN	L	133	ENSP00000040738:R133L	ENSP00000040738:R133L	R	-	2	0	BOD1L	13226195	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.741000	0.93983	0.655000	0.94253	CGA		0.353	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		39	32	1	0	2.87052e-16	1	3.65017e-16	39	32				
CRP	1401	broad.mit.edu	37	1	159683862	159683862	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:159683862G>A	ENST00000255030.5	-	2	231	c.128C>T	c.(127-129)cCg>cTg	p.P43L	CRP_ENST00000368111.1_Missense_Mutation_p.P43L|CRP_ENST00000368110.1_Missense_Mutation_p.P43L|CRP_ENST00000368112.1_Missense_Mutation_p.P43L|CRP_ENST00000437342.1_Intron|CRP_ENST00000473196.1_5'Flank|CRP_ENST00000343919.2_Missense_Mutation_p.P43L	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	43	Pentaxin.				acute-phase response (GO:0006953)|aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|complement activation, classical pathway (GO:0006958)|defense response to Gram-positive bacterium (GO:0050830)|inflammatory response (GO:0006954)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|opsonization (GO:0008228)|positive regulation of dendrite development (GO:1900006)|protein polymerization (GO:0051258)|regulation of interleukin-8 secretion (GO:2000482)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lead ion (GO:0010288)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)	calcium ion binding (GO:0005509)|cholesterol binding (GO:0015485)|choline binding (GO:0033265)|complement component C1q binding (GO:0001849)|low-density lipoprotein particle binding (GO:0030169)			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				inhaled insulin(DB05278)	CTTCGTTAACGGTGCTTTGAG	0.483																																						ENST00000255030.5																			0				breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22						c.(127-129)cCg>cTg		C-reactive protein, pentraxin-related	Atorvastatin(DB01076)|Bezafibrate(DB01393)						110.0	113.0	112.0					1																	159683862		2203	4300	6503	SO:0001583	missense	1401				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding	g.chr1:159683862G>A	M11725	CCDS30911.1	1q23.2	2013-05-13			ENSG00000132693	ENSG00000132693			2367	protein-coding gene	gene with protein product	"""pentraxin 1"""	123260				3840479, 6857266	Standard	NM_000567		Approved	PTX1	uc001ftw.3	P02741	OTTHUMG00000035344	ENST00000255030.5:c.128C>T	1.37:g.159683862G>A	ENSP00000255030:p.Pro43Leu					CRP_ENST00000343919.2_Missense_Mutation_p.P43L|CRP_ENST00000437342.1_Intron|CRP_ENST00000368111.1_Missense_Mutation_p.P43L|CRP_ENST00000368110.1_Missense_Mutation_p.P43L|CRP_ENST00000368112.1_Missense_Mutation_p.P43L	p.P43L	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN			2	231	-	all_hematologic(112;0.0429)		43			Pentaxin.		A8K078|D3DVD9|D3DVE0|Q08AK3|Q8WW75	Missense_Mutation	SNP	ENST00000255030.5	37	c.128C>T	CCDS30911.1	.	.	.	.	.	.	.	.	.	.	G	6.581	0.475528	0.12521	.	.	ENSG00000132693	ENST00000255030;ENST00000368112;ENST00000368111;ENST00000368110;ENST00000343919	T;T;T;T;T	0.06218	3.33;3.33;3.33;3.33;3.33	5.13	-1.96	0.07525	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	1.083410	0.06963	N	0.816662	T	0.00967	0.0032	N	0.20685	0.6	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.48614	-0.9020	10	0.28530	T	0.3	-0.5371	2.9242	0.05779	0.2086:0.067:0.2162:0.5082	.	43;43	P02741-2;P02741	.;CRP_HUMAN	L	43	ENSP00000255030:P43L;ENSP00000357093:P43L;ENSP00000357092:P43L;ENSP00000357091:P43L;ENSP00000340882:P43L	ENSP00000255030:P43L	P	-	2	0	CRP	157950486	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.583000	0.05807	-1.163000	0.02793	-2.240000	0.00288	CCG		0.483	CRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085553.1	NM_000567		41	92	0	0	0	1	0	41	92				
ASB15	142685	broad.mit.edu	37	7	123269039	123269039	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr7:123269039G>T	ENST00000451558.1	+	12	1512	c.991G>T	c.(991-993)Ggt>Tgt	p.G331C	ASB15_ENST00000275699.3_Missense_Mutation_p.G331C|ASB15_ENST00000540573.1_Missense_Mutation_p.G331C|ASB15_ENST00000434204.1_Missense_Mutation_p.G331C|ASB15_ENST00000451215.1_Missense_Mutation_p.G331C			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	331					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CATTGAAAATGGTTTTGATGT	0.413																																						ENST00000451558.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						c.(991-993)Ggt>Tgt		ankyrin repeat and SOCS box containing 15							172.0	159.0	163.0					7																	123269039		2203	4300	6503	SO:0001583	missense	142685				intracellular signal transduction			g.chr7:123269039G>T	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.991G>T	7.37:g.123269039G>T	ENSP00000397655:p.Gly331Cys					ASB15_ENST00000275699.3_Missense_Mutation_p.G331C|ASB15_ENST00000540573.1_Missense_Mutation_p.G331C|ASB15_ENST00000451215.1_Missense_Mutation_p.G331C|ASB15_ENST00000434204.1_Missense_Mutation_p.G331C	p.G331C			Q8WXK1	ASB15_HUMAN			12	1512	+			331					Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	ENST00000451558.1	37	c.991G>T	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.251195	0.80135	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699	T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21	6.17	6.17	0.99709	Ankyrin repeat-containing domain (4);	0.148031	0.46758	D	0.000273	T	0.73410	0.3583	H	0.96720	3.87	0.53688	D	0.999973	D	0.89917	1.0	D	0.91635	0.999	T	0.81553	-0.0880	10	0.87932	D	0	-36.8785	15.8933	0.79318	0.0658:0.0:0.9342:0.0	.	331	Q8WXK1	ASB15_HUMAN	C	331;331;331;331;120;331	ENSP00000397655:G331C;ENSP00000390963:G331C;ENSP00000416433:G331C;ENSP00000438643:G331C;ENSP00000275699:G331C	ENSP00000275699:G331C	G	+	1	0	ASB15	123056275	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.440000	0.73435	2.941000	0.99782	0.655000	0.94253	GGT		0.413	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			68	98	1	0	3.57465e-26	1	4.88746e-26	68	98				
TAF1L	138474	broad.mit.edu	37	9	32634582	32634582	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:32634582C>T	ENST00000242310.4	-	1	1085	c.996G>A	c.(994-996)atG>atA	p.M332I	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	332					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CAGGAACCATCATCGTGATTT	0.488																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(994-996)atG>atA		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							184.0	166.0	172.0					9																	32634582		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32634582C>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.996G>A	9.37:g.32634582C>T	ENSP00000418379:p.Met332Ile					RP11-555J4.4_ENST00000430787.1_RNA	p.M332I	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	1085	-			332					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.996G>A	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397071	0.62177	.	.	ENSG00000122728	ENST00000242310	T	0.56444	0.46	1.04	1.04	0.20106	.	0.000000	0.85682	D	0.000000	T	0.44726	0.1307	M	0.66939	2.045	0.50813	D	0.999891	B	0.24823	0.112	B	0.15870	0.014	T	0.40440	-0.9563	10	0.51188	T;T	0.08;0.08	.	7.4859	0.27432	0.0:1.0:0.0:0.0	.	332	Q8IZX4	TAF1L_HUMAN	I	332	ENSP00000418379:M332I	ENSP00000418379:M332I;ENSP00000418379:M332I	M	-	3	0	TAF1L	32624582	1.000000	0.71417	0.980000	0.43619	0.552000	0.35366	4.928000	0.63447	0.507000	0.28148	0.195000	0.17529	ATG		0.488	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			4	116	0	0	0	1	0	4	116				
ATF4P4	100127952	broad.mit.edu	37	11	113661717	113661717	+	RNA	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:113661717C>T	ENST00000393544.2	+	0	1765									activating transcription factor 4 pseudogene 4																		AGCCCAGAGTCCTATCTAGGG	0.542																																						ENST00000393544.2																			0																																																			100127952							g.chr11:113661717C>T			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.113661717C>T														0	1765	+									RNA	SNP	ENST00000393544.2	37																																																																																						0.542	ATF4P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000398707.1	NG_021835		3	23	0	0	0	1	0	3	23				
GABRB2	2561	broad.mit.edu	37	5	160757944	160757944	+	Silent	SNP	T	T	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:160757944T>A	ENST00000393959.1	-	8	1022	c.1023A>T	c.(1021-1023)gcA>gcT	p.A341A	GABRB2_ENST00000517901.1_Silent_p.A278A|GABRB2_ENST00000353437.6_Silent_p.A341A|GABRB2_ENST00000520240.1_Silent_p.A341A|GABRB2_ENST00000517547.1_Silent_p.A181A|GABRB2_ENST00000274547.2_Silent_p.A341A			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	341					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCTTCTCAGCTGCTTTCTTTT	0.502																																						ENST00000274547.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(1021-1023)gcA>gcT		gamma-aminobutyric acid (GABA) A receptor, beta 2	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						100.0	103.0	102.0					5																	160757944		2203	4300	6503	SO:0001819	synonymous_variant	2561				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160757944T>A		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.1023A>T	5.37:g.160757944T>A						GABRB2_ENST00000353437.6_Silent_p.A341A|GABRB2_ENST00000520240.1_Silent_p.A341A|GABRB2_ENST00000517901.1_Silent_p.A278A|GABRB2_ENST00000517547.1_Silent_p.A181A|GABRB2_ENST00000393959.1_Silent_p.A341A	p.A341A	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1240	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	341					A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Silent	SNP	ENST00000393959.1	37	c.1023A>T	CCDS4355.1																																																																																				0.502	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			32	137	0	0	0	1	0	32	137				
ZNF521	25925	broad.mit.edu	37	18	22805054	22805054	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr18:22805054T>G	ENST00000361524.3	-	4	2976	c.2828A>C	c.(2827-2829)aAt>aCt	p.N943T	ZNF521_ENST00000538137.2_Missense_Mutation_p.N943T|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.N723T	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	943					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CCGGAGGCCATTTTCGGAGAA	0.478			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(2827-2829)aAt>aCt		zinc finger protein 521							130.0	121.0	124.0					18																	22805054		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22805054T>G	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2828A>C	18.37:g.22805054T>G	ENSP00000354794:p.Asn943Thr					ZNF521_ENST00000538137.2_Missense_Mutation_p.N943T|ZNF521_ENST00000584787.1_Missense_Mutation_p.N723T	p.N943T	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	2976	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		943					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.2828A>C	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	T	8.951	0.968287	0.18659	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.27256	1.68;1.68	5.97	5.97	0.96955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.208605	0.50627	D	0.000106	T	0.31136	0.0787	M	0.61703	1.905	0.33494	D	0.589017	B	0.25850	0.136	B	0.26094	0.066	T	0.39099	-0.9630	10	0.45353	T	0.12	-36.5345	16.4473	0.83942	0.0:0.0:0.0:1.0	.	943	Q96K83	ZN521_HUMAN	T	943;977;943	ENSP00000354794:N943T;ENSP00000382352:N943T	ENSP00000354794:N943T	N	-	2	0	ZNF521	21059052	1.000000	0.71417	0.800000	0.32199	0.995000	0.86356	3.324000	0.52022	2.281000	0.76405	0.533000	0.62120	AAT		0.478	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		47	124	0	0	0	1	0	47	124				
MKRN2	23609	broad.mit.edu	37	3	12616417	12616417	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:12616417G>C	ENST00000170447.7	+	5	906	c.769G>C	c.(769-771)Ggg>Cgg	p.G257R	MKRN2_ENST00000411987.1_Missense_Mutation_p.G214R|MKRN2_ENST00000448482.1_Missense_Mutation_p.G255R	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	257					protein ubiquitination (GO:0016567)	intracellular (GO:0005622)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						GAGGAGATTTGGGATTCTCTC	0.493																																						ENST00000170447.7																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						c.(769-771)Ggg>Cgg		makorin ring finger protein 2							121.0	101.0	108.0					3																	12616417		2203	4300	6503	SO:0001583	missense	23609					intracellular	ligase activity|nucleic acid binding|zinc ion binding	g.chr3:12616417G>C		CCDS33702.1, CCDS63545.1	3p25	2008-08-13	2008-08-13		ENSG00000075975	ENSG00000075975		"""RING-type (C3HC4) zinc fingers"""	7113	protein-coding gene	gene with protein product		608426				11597136	Standard	NM_014160		Approved	RNF62, HSPC070	uc003bxd.4	Q9H000	OTTHUMG00000155371	ENST00000170447.7:c.769G>C	3.37:g.12616417G>C	ENSP00000170447:p.Gly257Arg					MKRN2_ENST00000448482.1_Missense_Mutation_p.G255R|MKRN2_ENST00000411987.1_Missense_Mutation_p.G214R	p.G257R	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN			5	906	+			257					A6NIA2|B3KRC5|B4DPR4|Q8N391|Q96BD4|Q9BUY2|Q9NRY1	Missense_Mutation	SNP	ENST00000170447.7	37	c.769G>C	CCDS33702.1	.	.	.	.	.	.	.	.	.	.	G	33	5.283610	0.95489	.	.	ENSG00000075975	ENST00000170447;ENST00000411987;ENST00000448482	T;T;T	0.64260	-0.09;1.13;-0.09	5.91	5.91	0.95273	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.72534	0.3472	L	0.43152	1.355	0.80722	D	1	D;D;D	0.59357	0.965;0.985;0.985	P;P;P	0.59357	0.712;0.856;0.856	T	0.73084	-0.4094	10	0.72032	D	0.01	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	214;255;257	B4DPR4;C9J494;Q9H000	.;.;MKRN2_HUMAN	R	257;214;255	ENSP00000170447:G257R;ENSP00000396340:G214R;ENSP00000397983:G255R	ENSP00000170447:G257R	G	+	1	0	MKRN2	12591417	1.000000	0.71417	0.979000	0.43373	0.995000	0.86356	9.470000	0.97683	2.793000	0.96121	0.655000	0.94253	GGG		0.493	MKRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339679.1	NM_014160		19	24	0	0	0	1	0	19	24				
PCDH10	57575	broad.mit.edu	37	4	134073368	134073368	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr4:134073368C>A	ENST00000264360.5	+	1	2899	c.2073C>A	c.(2071-2073)agC>agA	p.S691R		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	691					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ggggcgggagcggaggcggag	0.711																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(2071-2073)agC>agA		protocadherin 10							36.0	44.0	42.0					4																	134073368		2198	4295	6493	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073368C>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2073C>A	4.37:g.134073368C>A	ENSP00000264360:p.Ser691Arg						p.S691R	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2899	+			691					Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.2073C>A	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	7.465	0.645494	0.14451	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.52754	0.65	4.48	3.62	0.41486	.	0.733953	0.11624	N	0.545441	T	0.38480	0.1042	L	0.39898	1.24	0.26770	N	0.969822	B;B	0.23650	0.026;0.089	B;B	0.23716	0.048;0.048	T	0.23190	-1.0195	10	0.13470	T	0.59	.	12.6447	0.56728	0.1668:0.8332:0.0:0.0	.	691;691	Q9P2E7;Q96SF0	PCD10_HUMAN;.	R	691	ENSP00000264360:S691R	ENSP00000264360:S691R	S	+	3	2	PCDH10	134292818	0.998000	0.40836	0.999000	0.59377	0.982000	0.71751	0.021000	0.13489	1.061000	0.40601	0.561000	0.74099	AGC		0.711	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		13	22	1	0	1.3612e-06	1	1.47583e-06	13	22				
PEX5L	51555	broad.mit.edu	37	3	179576922	179576922	+	Silent	SNP	G	G	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:179576922G>C	ENST00000467460.1	-	8	1080	c.750C>G	c.(748-750)cgC>cgG	p.R250R	PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Silent_p.R226R|PEX5L_ENST00000468741.1_Silent_p.R58R|PEX5L_ENST00000476138.1_Silent_p.R207R|PEX5L_ENST00000392649.3_Silent_p.R142R|PEX5L_ENST00000464614.1_Silent_p.R142R|PEX5L_ENST00000485199.1_Silent_p.R215R|PEX5L_ENST00000472994.1_Silent_p.R191R|PEX5L_ENST00000263962.8_Silent_p.R248R	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	250					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CGCTTCCCCAGCGATGTTCTT	0.358																																						ENST00000467460.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(748-750)cgC>cgG		peroxisomal biogenesis factor 5-like							119.0	117.0	118.0					3																	179576922		2203	4300	6503	SO:0001819	synonymous_variant	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179576922G>C	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.750C>G	3.37:g.179576922G>C						PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000464614.1_Silent_p.R142R|PEX5L_ENST00000392649.3_Silent_p.R142R|PEX5L_ENST00000465751.1_Silent_p.R226R|PEX5L_ENST00000263962.8_Silent_p.R248R|PEX5L_ENST00000468741.1_Silent_p.R58R|PEX5L_ENST00000476138.1_Silent_p.R207R|PEX5L_ENST00000485199.1_Silent_p.R215R|PEX5L_ENST00000472994.1_Silent_p.R191R	p.R250R	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		8	1080	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		250					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Silent	SNP	ENST00000467460.1	37	c.750C>G	CCDS3236.1																																																																																				0.358	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		55	33	0	0	0	1	0	55	33				
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000470386.1_5'Flank|GTF3C3_ENST00000409364.3_Silent_p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.				5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468																																						ENST00000263956.3																			1	Substitution - coding silent(1)	p.E103E(1)	endometrium(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(307-309)gaG>gaA		general transcription factor IIIC, polypeptide 3, 102kDa							65.0	63.0	64.0					2																	197657782		2203	4300	6503	SO:0001819	synonymous_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197657782C>T	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.309G>A	2.37:g.197657782C>T						GTF3C3_ENST00000409364.3_Silent_p.E103E	p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			3	398	-			103			Glu-rich.		Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	ENST00000263956.3	37	c.309G>A	CCDS2316.1																																																																																				0.468	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			3	35	0	0	0	1	0	3	35				
ZNF112	7771	broad.mit.edu	37	19	44847418	44847418	+	Start_Codon_SNP	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr19:44847418C>T	ENST00000337401.4	-	2	91	c.3G>A	c.(1-3)atG>atA	p.M1I	ZNF112_ENST00000536500.1_Missense_Mutation_p.M18I|CTC-512J12.6_ENST00000588212.1_Intron|ZNF112_ENST00000354340.4_Intron	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	1					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										GGAATTTGGTCATTTTTCTCT	0.413																																						ENST00000536500.1																			0											c.(52-54)atG>atA		zinc finger protein 112							133.0	138.0	136.0					19																	44847418		1869	4106	5975	SO:0001582	initiator_codon_variant	7665							g.chr19:44847418C>T	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.3G>A	19.37:g.44847418C>T	ENSP00000337081:p.Met1Ile					ZNF112_ENST00000354340.4_Intron|CTC-512J12.6_ENST00000588212.1_Intron|ZNF112_ENST00000337401.4_Start_Codon_SNP_p.M1I	p.M18I							2	173	-								A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	c.54G>A	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.667526	0.29604	.	.	ENSG00000062370	ENST00000337401;ENST00000536500	T;T	0.06687	3.27;3.35	3.73	3.73	0.42828	Krueppel-associated box (1);	.	.	.	.	T	0.22513	0.0543	.	.	.	0.33127	D	0.542601	D;D	0.61080	0.989;0.981	D;D	0.70487	0.969;0.932	T	0.06373	-1.0830	8	0.37606	T	0.19	4.962	11.3408	0.49531	0.0:1.0:0.0:0.0	.	18;1	F5GWS7;Q9UJU3	.;ZF112_HUMAN	I	1;18	ENSP00000337081:M1I;ENSP00000441990:M18I	ENSP00000337081:M1I	M	-	3	0	ZNF285	49539258	0.502000	0.26107	1.000000	0.80357	0.464000	0.32679	0.931000	0.28871	2.374000	0.81015	0.650000	0.86243	ATG		0.413	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380	Missense_Mutation	37	41	0	0	0	1	0	37	41				
SPAG17	200162	broad.mit.edu	37	1	118623782	118623782	+	Silent	SNP	A	A	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:118623782A>G	ENST00000336338.5	-	15	2216	c.2151T>C	c.(2149-2151)aaT>aaC	p.N717N		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	717						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ACAGCTGTCTATTATCAGGGA	0.433																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(2149-2151)aaT>aaC		sperm associated antigen 17							184.0	169.0	174.0					1																	118623782		2203	4300	6503	SO:0001819	synonymous_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118623782A>G		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2151T>C	1.37:g.118623782A>G							p.N717N	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	15	2216	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	717					Q8NAZ1|Q9NT21	Silent	SNP	ENST00000336338.5	37	c.2151T>C	CCDS899.1																																																																																				0.433	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		36	94	0	0	0	1	0	36	94				
TTN	7273	broad.mit.edu	37	2	179428837	179428837	+	Missense_Mutation	SNP	C	C	A	rs555414240		TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:179428837C>A	ENST00000591111.1	-	276	77323	c.77099G>T	c.(77098-77100)cGg>cTg	p.R25700L	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R18468L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R24773L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R27341L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R18401L|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R18276L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25700	Ig-like 125.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R24773L(1)|p.R18276L(1)|p.R24771L(1)|p.R18468L(1)|p.R18401L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCATCAGTCCGTATACAGTC	0.393																																						ENST00000589042.1																			5	Substitution - Missense(5)	p.R24773L(1)|p.R18276L(1)|p.R24771L(1)|p.R18468L(1)|p.R18401L(1)	lung(5)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(82021-82023)cGg>cTg		titin							177.0	178.0	178.0					2																	179428837		1859	4114	5973	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179428837C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.77099G>T	2.37:g.179428837C>A	ENSP00000465570:p.Arg25700Leu					TTN_ENST00000342992.6_Missense_Mutation_p.R24773L|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R18468L|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R18401L|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R25700L|TTN_ENST00000460472.2_Missense_Mutation_p.R18276L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA	p.R27341L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	82246	-			25700			Fibronectin type-III 99.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.82022G>T		.	.	.	.	.	.	.	.	.	.	C	15.49	2.849481	0.51270	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	6.07	6.07	0.98685	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66509	0.2796	M	0.66439	2.03	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.65874	-0.6062	9	0.87932	D	0	.	20.6452	0.99591	0.0:1.0:0.0:0.0	.	18276;18401;18468;25700	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	24773;18276;18468;18401;18274	ENSP00000343764:R24773L;ENSP00000434586:R18276L;ENSP00000340554:R18468L;ENSP00000352154:R18401L	ENSP00000340554:R18468L	R	-	2	0	TTN	179137083	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	4.918000	0.63376	2.885000	0.99019	0.650000	0.86243	CGG		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		71	159	1	0	1.25706e-45	1	1.82362e-45	71	159				
CSMD1	64478	broad.mit.edu	37	8	2823429	2823429	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:2823429C>T	ENST00000520002.1	-	60	9706	c.9151G>A	c.(9151-9153)Ggg>Agg	p.G3051R	CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.G3050R|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.G3051R|CSMD1_ENST00000542608.1_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3051	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAGTCGGTCCCAAACTGGATG	0.448																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(9151-9153)Ggg>Agg		CUB and Sushi multiple domains 1							100.0	100.0	100.0					8																	2823429		2058	4201	6259	SO:0001583	missense	64478					integral to membrane		g.chr8:2823429C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9151G>A	8.37:g.2823429C>T	ENSP00000430733:p.Gly3051Arg					CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.G3051R|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.G3050R|CSMD1_ENST00000602723.1_Intron	p.G3051R			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	60	9706	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	3051			Sushi 24.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.9151G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.7|23.7	4.448356|4.448356	0.84101|0.84101	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000520002;ENST00000318252;ENST00000537824|ENST00000335551	T;T|.	0.64260|.	-0.09;-0.09|.	5.42|5.42	5.42|5.42	0.78866|0.78866	Complement control module (2);Sushi/SCR/CCP (3);|.	0.000000|.	0.64402|.	D|.	0.000001|.	D|.	0.84584|.	0.5504|.	M|M	0.88704|0.88704	2.975|2.975	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	D|.	0.86685|.	0.1919|.	10|.	0.87932|.	D|.	0|.	.|.	19.2323|19.2323	0.93845|0.93845	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3051;3051|.	E5RIG2;Q96PZ7|.	.;CSMD1_HUMAN|.	R|X	3051;2912;3050|2467	ENSP00000430733:G3051R;ENSP00000441462:G3050R|.	ENSP00000320445:G2912R|.	G|W	-|-	1|2	0|0	CSMD1|CSMD1	2810836|2810836	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.459000|0.459000	0.32528|0.32528	7.617000|7.617000	0.83032|0.83032	2.541000|2.541000	0.85698|0.85698	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.448	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		8	14	0	0	0	1	0	8	14				
PCDHGA1	56114	broad.mit.edu	37	5	140712459	140712459	+	Silent	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:140712459C>T	ENST00000517417.1	+	1	2208	c.2208C>T	c.(2206-2208)ccC>ccT	p.P736P	PCDHGA1_ENST00000378105.3_Silent_p.P736P	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	736					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGCATGCCCGGTTCGCACT	0.632																																						ENST00000517417.1																			0				breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(2206-2208)ccC>ccT									72.0	76.0	75.0					5																	140712459		2203	4300	6503	SO:0001819	synonymous_variant	56114							g.chr5:140712459C>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2208C>T	5.37:g.140712459C>T						PCDHGA1_ENST00000378105.3_Silent_p.P736P	p.P736P	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2208	+								Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	c.2208C>T	CCDS54922.1																																																																																				0.632	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		4	138	0	0	0	1	0	4	138				
OR6K2	81448	broad.mit.edu	37	1	158670267	158670267	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:158670267A>G	ENST00000359610.2	-	1	219	c.176T>C	c.(175-177)aTg>aCg	p.M59T		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AAAAGTATACATGGGAGTGTG	0.448																																						ENST00000359610.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46						c.(175-177)aTg>aCg		olfactory receptor, family 6, subfamily K, member 2							98.0	92.0	94.0					1																	158670267		2203	4300	6503	SO:0001583	missense	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158670267A>G	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.176T>C	1.37:g.158670267A>G	ENSP00000352626:p.Met59Thr						p.M59T	NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN			1	219	-	all_hematologic(112;0.0378)		59					B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	c.176T>C	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	A	7.080	0.570000	0.13560	.	.	ENSG00000196171	ENST00000359610	T	0.09817	2.94	4.67	4.67	0.58626	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000111	T	0.16557	0.0398	H	0.94620	3.56	0.32119	N	0.588229	P	0.35456	0.502	B	0.39419	0.299	T	0.11991	-1.0565	10	0.87932	D	0	-16.9388	13.2588	0.60093	1.0:0.0:0.0:0.0	.	59	Q8NGY2	OR6K2_HUMAN	T	59	ENSP00000352626:M59T	ENSP00000352626:M59T	M	-	2	0	OR6K2	156936891	1.000000	0.71417	1.000000	0.80357	0.201000	0.24016	4.617000	0.61204	1.939000	0.56221	0.533000	0.62120	ATG		0.448	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		25	84	0	0	0	1	0	25	84				
TRPM3	80036	broad.mit.edu	37	9	73151800	73151800	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:73151800G>A	ENST00000377110.3	-	25	4436	c.4193C>T	c.(4192-4194)tCg>tTg	p.S1398L	TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000357533.2_Missense_Mutation_p.S1402L|TRPM3_ENST00000396285.1_Missense_Mutation_p.S1257L|TRPM3_ENST00000396280.5_Missense_Mutation_p.S1247L|TRPM3_ENST00000423814.3_Missense_Mutation_p.S1425L|TRPM3_ENST00000396292.4_Missense_Mutation_p.S1270L|TRPM3_ENST00000358082.3_Missense_Mutation_p.S1260L|TRPM3_ENST00000377106.1_Missense_Mutation_p.S1270L|TRPM3_ENST00000377105.1_Missense_Mutation_p.S1257L|TRPM3_ENST00000360823.2_Missense_Mutation_p.S1260L|TRPM3_ENST00000408909.2_Missense_Mutation_p.S1257L			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1423					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GTCTATACACGATGATGGTCT	0.512																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(4192-4194)tCg>tTg		transient receptor potential cation channel, subfamily M, member 3							106.0	98.0	101.0					9																	73151800		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73151800G>A	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377110.3:c.4193C>T	9.37:g.73151800G>A	ENSP00000366314:p.Ser1398Leu					TRPM3_ENST00000396280.5_Missense_Mutation_p.S1247L|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000358082.3_Missense_Mutation_p.S1260L|TRPM3_ENST00000396285.1_Missense_Mutation_p.S1257L|TRPM3_ENST00000360823.2_Missense_Mutation_p.S1260L|TRPM3_ENST00000396292.4_Missense_Mutation_p.S1270L|TRPM3_ENST00000357533.2_Missense_Mutation_p.S1402L|TRPM3_ENST00000423814.3_Missense_Mutation_p.S1425L|TRPM3_ENST00000377105.1_Missense_Mutation_p.S1257L|TRPM3_ENST00000377106.1_Missense_Mutation_p.S1270L|TRPM3_ENST00000408909.2_Missense_Mutation_p.S1257L	p.S1398L	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			25	4436	-			1423					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377110.3	37	c.4193C>T	CCDS43835.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551496	0.65311	.	.	ENSG00000083067	ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	T;T;T;T;T;T;T;T;T;T	0.65178	-0.0;-0.12;-0.13;-0.13;-0.01;-0.13;-0.14;-0.12;-0.13;-0.02	6.02	6.02	0.97574	.	0.132703	0.52532	D	0.000065	T	0.71239	0.3316	L	0.29908	0.895	0.58432	D	0.999996	D;P;D;D;B;D;D	0.71674	0.998;0.584;0.997;0.997;0.354;0.988;0.997	D;B;P;D;B;P;D	0.75484	0.986;0.095;0.728;0.968;0.037;0.488;0.968	T	0.66064	-0.6016	10	0.30854	T	0.27	-10.8752	20.5407	0.99260	0.0:0.0:1.0:0.0	.	1398;1388;1402;1260;1257;1370;1257	Q9HCF6-2;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.;.;.;.;.;.;.	L	1398;1270;1260;1257;1402;1257;1257;1270;1260;1425	ENSP00000366314:S1398L;ENSP00000366310:S1270L;ENSP00000354066:S1260L;ENSP00000366309:S1257L;ENSP00000350140:S1402L;ENSP00000386127:S1257L;ENSP00000379581:S1257L;ENSP00000379587:S1270L;ENSP00000350791:S1260L;ENSP00000389542:S1425L	ENSP00000350140:S1402L	S	-	2	0	TRPM3	72341620	1.000000	0.71417	0.119000	0.21687	0.991000	0.79684	9.230000	0.95299	2.865000	0.98341	0.655000	0.94253	TCG		0.512	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214158.3	NM_206945		48	88	0	0	0	1	0	48	88				
RTFDC1	51507	broad.mit.edu	37	20	55048421	55048421	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr20:55048421G>A	ENST00000023939.4	+	2	241	c.134G>A	c.(133-135)aGa>aAa	p.R45K	RTFDC1_ENST00000395881.3_Missense_Mutation_p.R45K|snoU13_ENST00000459416.1_RNA|RTFDC1_ENST00000357348.5_Missense_Mutation_p.R75K	NM_001283035.1|NM_001283036.1|NM_016407.3	NP_001269964.1|NP_001269965.1|NP_057491.2	Q9BY42	RTF2_HUMAN	replication termination factor 2 domain containing 1	45																	GAAATATTAAGACGACCAATA	0.323																																						ENST00000023939.4																			0											c.(133-135)aGa>aAa		replication termination factor 2 domain containing 1							107.0	109.0	108.0					20																	55048421		2203	4300	6503	SO:0001583	missense	51507							g.chr20:55048421G>A	AF161513	CCDS13453.1, CCDS63316.1, CCDS63317.1	20q13	2012-10-29	2012-10-29	2012-10-29	ENSG00000022277	ENSG00000022277			15890	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 43"""	C20orf43			Standard	NM_001283035		Approved	HSPC164, CDAO5	uc002xxt.2	Q9BY42	OTTHUMG00000032801	ENST00000023939.4:c.134G>A	20.37:g.55048421G>A	ENSP00000023939:p.Arg45Lys					RTFDC1_ENST00000395881.3_Missense_Mutation_p.R45K|RTFDC1_ENST00000357348.5_Missense_Mutation_p.R75K	p.R45K	NM_016407.3	NP_057491.2					2	241	+								E1P5Z9|Q9BYL7|Q9HCV9|Q9NX29|Q9NZZ8|Q9P002|Q9UHW3	Missense_Mutation	SNP	ENST00000023939.4	37	c.134G>A	CCDS13453.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.838506	0.51057	.	.	ENSG00000022277	ENST00000023939;ENST00000395881;ENST00000357348;ENST00000449062	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	5.86	4.92	0.64577	.	0.269409	0.41500	N	0.000866	T	0.16041	0.0386	N	0.13352	0.335	0.80722	D	1	B;B;B;B	0.25667	0.043;0.013;0.013;0.131	B;B;B;B	0.26310	0.068;0.017;0.027;0.038	T	0.05920	-1.0856	10	0.07644	T	0.81	-29.2999	10.2292	0.43245	0.0716:0.1355:0.7929:0.0	.	75;45;45;45	A8MSH5;A2A2L6;B2RB99;Q9BY42	.;.;.;CT043_HUMAN	K	45;45;75;75	ENSP00000023939:R45K;ENSP00000379220:R45K;ENSP00000349906:R75K;ENSP00000400322:R75K	ENSP00000023939:R45K	R	+	2	0	C20orf43	54481828	0.997000	0.39634	0.998000	0.56505	0.994000	0.84299	2.141000	0.42168	1.496000	0.48567	0.585000	0.79938	AGA		0.323	RTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079817.2	NM_016407		23	48	0	0	0	1	0	23	48				
F13B	2165	broad.mit.edu	37	1	197026221	197026221	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:197026221T>A	ENST00000367412.1	-	7	1136	c.1093A>T	c.(1093-1095)Aaa>Taa	p.K365*		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	365	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TAGCCGCTTTTACATGCATAT	0.408																																						ENST00000367412.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						c.(1093-1095)Aaa>Taa		coagulation factor XIII, B polypeptide							125.0	108.0	114.0					1																	197026221		2203	4300	6503	SO:0001587	stop_gained	2165				blood coagulation	extracellular region		g.chr1:197026221T>A	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1093A>T	1.37:g.197026221T>A	ENSP00000356382:p.Lys365*						p.K365*	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN			7	1136	-			365			Sushi 6.		A8K3E5|Q5VYL5	Nonsense_Mutation	SNP	ENST00000367412.1	37	c.1093A>T	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.024742	0.54683	.	.	ENSG00000143278	ENST00000367412	.	.	.	5.99	2.91	0.33838	.	1.109320	0.07149	N	0.848804	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	7.3211	0.26528	0.0:0.7008:0.1375:0.1617	.	.	.	.	X	365	.	ENSP00000356382:K365X	K	-	1	0	F13B	195292844	0.157000	0.22836	0.162000	0.22713	0.008000	0.06430	0.322000	0.19576	0.366000	0.24427	-0.182000	0.12963	AAA		0.408	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		19	29	0	0	0	1	0	19	29				
PSMC5	5705	broad.mit.edu	37	17	61907804	61907804	+	Silent	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:61907804C>T	ENST00000310144.6	+	6	803	c.495C>T	c.(493-495)atC>atT	p.I165I	FTSJ3_ENST00000427159.2_5'Flank|PSMC5_ENST00000580864.1_Silent_p.I157I|FTSJ3_ENST00000580295.1_5'Flank|PSMC5_ENST00000581882.1_Silent_p.I157I|PSMC5_ENST00000375812.4_Silent_p.I157I	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	165					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						AAGAAGTGATCGAGCTGCCTG	0.488																																						ENST00000310144.6																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(493-495)atC>atT		proteasome (prosome, macropain) 26S subunit, ATPase, 5							103.0	96.0	98.0					17																	61907804		2203	4300	6503	SO:0001819	synonymous_variant	5705				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding	g.chr17:61907804C>T	L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195		ENST00000310144.6:c.495C>T	17.37:g.61907804C>T						PSMC5_ENST00000580864.1_Silent_p.I157I|PSMC5_ENST00000581882.1_Silent_p.I157I|PSMC5_ENST00000375812.4_Silent_p.I157I	p.I165I	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN			6	803	+			165					A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Silent	SNP	ENST00000310144.6	37	c.495C>T	CCDS11645.1																																																																																				0.488	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805		27	101	0	0	0	1	0	27	101				
CILP	8483	broad.mit.edu	37	15	65489281	65489281	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr15:65489281G>A	ENST00000261883.4	-	9	3509	c.3343C>T	c.(3343-3345)Ctc>Ttc	p.L1115F		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	1115					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TTGAAGGTGAGGGCTACTCCC	0.607																																						ENST00000261883.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						c.(3343-3345)Ctc>Ttc		cartilage intermediate layer protein, nucleotide pyrophosphohydrolase							73.0	55.0	61.0					15																	65489281		2202	4299	6501	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65489281G>A	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.3343C>T	15.37:g.65489281G>A	ENSP00000261883:p.Leu1115Phe						p.L1115F	NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN			9	3509	-			1115					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.3343C>T	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.640627	0.67244	.	.	ENSG00000138615	ENST00000261883	T	0.50277	0.75	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.66426	0.2788	M	0.71581	2.175	0.51767	D	0.999938	D	0.89917	1.0	D	0.73380	0.98	T	0.69285	-0.5185	10	0.72032	D	0.01	-27.656	13.4433	0.61125	0.0777:0.0:0.9223:0.0	.	1115	O75339	CILP1_HUMAN	F	1115	ENSP00000261883:L1115F	ENSP00000261883:L1115F	L	-	1	0	CILP	63276334	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.473000	0.45145	2.520000	0.84964	0.561000	0.74099	CTC		0.607	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		23	20	0	0	0	1	0	23	20				
SFRP1	6422	broad.mit.edu	37	8	41122744	41122744	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:41122744T>C	ENST00000220772.3	-	3	1224	c.887A>G	c.(886-888)aAc>aGc	p.N296S	SFRP1_ENST00000379845.3_Missense_Mutation_p.N160S	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	296	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				bone trabecula formation (GO:0060346)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to BMP stimulus (GO:0071773)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to prostaglandin E stimulus (GO:0071380)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vitamin D (GO:0071305)|cellular response to X-ray (GO:0071481)|convergent extension involved in somitogenesis (GO:0090246)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral axis specification (GO:0009950)|female gonad development (GO:0008585)|gonad development (GO:0008406)|hematopoietic progenitor cell differentiation (GO:0002244)|hematopoietic stem cell differentiation (GO:0060218)|male gonad development (GO:0008584)|menstrual cycle phase (GO:0022601)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone remodeling (GO:0046851)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000080)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|neural crest cell fate commitment (GO:0014034)|neural tube closure (GO:0001843)|osteoblast differentiation (GO:0001649)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|proteolysis (GO:0006508)|regulation of angiogenesis (GO:0045765)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell cycle process (GO:0010564)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|somatic stem cell maintenance (GO:0035019)|stromal-epithelial cell signaling involved in prostate gland development (GO:0044345)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cysteine-type endopeptidase activity (GO:0004197)|drug binding (GO:0008144)|frizzled binding (GO:0005109)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			CTTCATGAAGTTTTTGAACTC	0.532																																						ENST00000220772.3																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7						c.(886-888)aAc>aGc		secreted frizzled-related protein 1							75.0	66.0	69.0					8																	41122744		2203	4300	6503	SO:0001583	missense	6422				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:41122744T>C	AF017987	CCDS34886.1	8p11.21	2006-12-15			ENSG00000104332	ENSG00000104332		"""Secreted frizzled-related proteins"""	10776	protein-coding gene	gene with protein product		604156				9391078, 9192640	Standard	NM_003012		Approved	SARP2, FRP, FRP-1	uc003xnt.3	Q8N474	OTTHUMG00000164074	ENST00000220772.3:c.887A>G	8.37:g.41122744T>C	ENSP00000220772:p.Asn296Ser					SFRP1_ENST00000379845.3_Missense_Mutation_p.N160S	p.N296S	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)		3	1224	-	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	296			NTR.		O00546|O14779	Missense_Mutation	SNP	ENST00000220772.3	37	c.887A>G	CCDS34886.1	.	.	.	.	.	.	.	.	.	.	T	13.17	2.157190	0.38119	.	.	ENSG00000104332	ENST00000220772;ENST00000379845;ENST00000535263	T;T	0.21361	2.01;2.01	4.7	3.53	0.40419	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.226281	0.39985	N	0.001202	T	0.09512	0.0234	N	0.08118	0	0.32779	N	0.502706	B	0.18461	0.028	B	0.22386	0.039	T	0.12553	-1.0543	10	0.29301	T	0.29	.	5.7708	0.18251	0.0:0.0855:0.1716:0.743	.	296	Q8N474	SFRP1_HUMAN	S	296;160;296	ENSP00000220772:N296S;ENSP00000369174:N160S	ENSP00000220772:N296S	N	-	2	0	SFRP1	41241901	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	2.117000	0.41939	0.814000	0.34374	0.460000	0.39030	AAC		0.532	SFRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377132.1	NM_003012		7	30	0	0	0	1	0	7	30				
PREX2	80243	broad.mit.edu	37	8	68965416	68965416	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:68965416C>A	ENST00000288368.4	+	9	1305	c.1028C>A	c.(1027-1029)gCa>gAa	p.A343E	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	343	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GTTTGTATGGCAAAAACACCT	0.383																																						ENST00000288368.4																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(1027-1029)gCa>gAa		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							121.0	110.0	114.0					8																	68965416		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68965416C>A	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1028C>A	8.37:g.68965416C>A	ENSP00000288368:p.Ala343Glu					PREX2_ENST00000529398.1_3'UTR	p.A343E	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			9	1305	+			343			PH.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.1028C>A	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	33	5.212421	0.95069	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	D	0.94417	-3.42	5.52	5.52	0.82312	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.97929	0.9319	M	0.91459	3.21	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.80764	0.994;0.992;0.991	D	0.98616	1.0665	10	0.87932	D	0	.	19.4398	0.94813	0.0:1.0:0.0:0.0	.	343;343;343	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	E	343	ENSP00000288368:A343E	ENSP00000288368:A343E	A	+	2	0	PREX2	69127970	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.598000	0.87819	0.655000	0.94253	GCA		0.383	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		31	62	1	0	3.80469e-20	1	4.96055e-20	31	62				
TMEM132D	121256	broad.mit.edu	37	12	130185208	130185208	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr12:130185208T>C	ENST00000422113.2	-	2	441	c.115A>G	c.(115-117)Agg>Ggg	p.R39G	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	39					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AAGGAAAACCTCTGGATGCTC	0.542																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(115-117)Agg>Ggg		transmembrane protein 132D							115.0	79.0	91.0					12																	130185208		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:130185208T>C	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.115A>G	12.37:g.130185208T>C	ENSP00000408581:p.Arg39Gly						p.R39G	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	441	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	39					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.115A>G	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	T	16.58	3.162836	0.57368	.	.	ENSG00000151952	ENST00000422113	T	0.15256	2.44	5.33	-0.0203	0.13956	.	0.088329	0.43110	D	0.000611	T	0.37892	0.1020	M	0.80847	2.515	0.30147	N	0.80344	D	0.63046	0.992	P	0.59357	0.856	T	0.50363	-0.8837	9	.	.	.	-36.9461	16.4196	0.83754	0.0:0.0:0.5907:0.4093	.	39	Q14C87	T132D_HUMAN	G	39	ENSP00000408581:R39G	.	R	-	1	2	TMEM132D	128751161	1.000000	0.71417	0.986000	0.45419	0.964000	0.63967	1.961000	0.40432	-0.256000	0.09473	0.454000	0.30748	AGG		0.542	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		17	40	0	0	0	1	0	17	40				
TTN	7273	broad.mit.edu	37	2	179404190	179404190	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:179404190A>C	ENST00000591111.1	-	302	93903	c.93679T>G	c.(93679-93681)Ttc>Gtc	p.F31227V	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F23995V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F30300V|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.F32868V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F23928V|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F23803V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31227	Fibronectin type-III 127. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAACACGGAAATGGTATTCT	0.453																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(98602-98604)Ttc>Gtc		titin							166.0	147.0	153.0					2																	179404190		1891	4126	6017	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179404190A>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.93679T>G	2.37:g.179404190A>C	ENSP00000465570:p.Phe31227Val					TTN_ENST00000342992.6_Missense_Mutation_p.F30300V|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F23995V|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F23928V|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.F31227V|TTN_ENST00000460472.2_Missense_Mutation_p.F23803V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA	p.F32868V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		352	98826	-			31227					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.98602T>G		.	.	.	.	.	.	.	.	.	.	A	18.29	3.591076	0.66219	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.66	5.66	0.87406	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75140	0.3809	M	0.82923	2.615	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.79490	-0.1782	9	0.87932	D	0	.	15.9039	0.79403	1.0:0.0:0.0:0.0	.	23803;23928;23995;31227	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	30300;23803;23995;23928;23800	ENSP00000343764:F30300V;ENSP00000434586:F23803V;ENSP00000340554:F23995V;ENSP00000352154:F23928V	ENSP00000340554:F23995V	F	-	1	0	TTN	179112436	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.339000	0.96797	2.158000	0.67659	0.460000	0.39030	TTC		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		44	85	0	0	0	1	0	44	85				
DENND4B	9909	broad.mit.edu	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642																																						ENST00000361217.4																			2	Substitution - coding silent(2)	p.Q788Q(1)|p.Q900Q(1)	lung(2)	NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2698-2700)caG>caA		DENN/MADD domain containing 4B							33.0	42.0	39.0					1																	153907309		2187	4283	6470	SO:0001819	synonymous_variant	9909							g.chr1:153907309C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2700G>A	1.37:g.153907309C>T							p.Q900Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3118	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		900			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2700G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		4	97	0	0	0	1	0	4	97				
KRBA2	124751	broad.mit.edu	37	17	8273201	8273201	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:8273201C>A	ENST00000331336.2	-	2	735	c.730G>T	c.(730-732)Gta>Tta	p.V244L	RP11-849F2.7_ENST00000582471.1_3'UTR|KRBA2_ENST00000396267.1_Missense_Mutation_p.V162L|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.5_ENST00000583963.1_RNA	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	244					DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						CTCTTGGGTACTGGGTTCTTC	0.458																																						ENST00000396267.1																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						c.(484-486)Gta>Tta		KRAB-A domain containing 2							117.0	116.0	116.0					17																	8273201		2203	4300	6503	SO:0001583	missense	124751				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding	g.chr17:8273201C>A	BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"""-"""	26989	protein-coding gene	gene with protein product			"""KRAB A domain containing 2"""			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.730G>T	17.37:g.8273201C>A	ENSP00000328017:p.Val244Leu					RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.5_ENST00000583963.1_RNA|KRBA2_ENST00000331336.2_Missense_Mutation_p.V244L	p.V162L			Q6ZNG9	KRBA2_HUMAN			2	1315	-			244					Q8IYY0	Missense_Mutation	SNP	ENST00000331336.2	37	c.484G>T	CCDS11141.1	.	.	.	.	.	.	.	.	.	.	c	0.372	-0.933694	0.02340	.	.	ENSG00000184619	ENST00000396267;ENST00000331336	T;T	0.23348	1.93;1.91	2.96	0.966	0.19667	.	.	.	.	.	T	0.11836	0.0288	N	0.08118	0	0.21220	N	0.999754	B	0.10296	0.003	B	0.09377	0.004	T	0.24404	-1.0161	9	0.56958	D	0.05	.	5.122	0.14865	0.0:0.7226:0.0:0.2774	.	244	Q6ZNG9	KRBA2_HUMAN	L	162;244	ENSP00000379565:V162L;ENSP00000328017:V244L	ENSP00000328017:V244L	V	-	1	0	KRBA2	8213926	0.966000	0.33281	0.914000	0.36105	0.850000	0.48378	0.315000	0.19451	0.314000	0.23086	-0.142000	0.14014	GTA		0.458	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1	NM_213597		45	87	1	0	1.23713e-20	1	1.62669e-20	45	87				
EGFLAM	133584	broad.mit.edu	37	5	38338867	38338867	+	Missense_Mutation	SNP	G	G	T	rs373379185		TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:38338867G>T	ENST00000354891.3	+	3	621	c.275G>T	c.(274-276)cGg>cTg	p.R92L	EGFLAM_ENST00000322350.5_Missense_Mutation_p.R92L	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	92	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CCTCTCAGCCGGGACATCCCG	0.547																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(274-276)cGg>cTg		EGF-like, fibronectin type III and laminin G domains							77.0	72.0	74.0					5																	38338867		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38338867G>T	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.275G>T	5.37:g.38338867G>T	ENSP00000346964:p.Arg92Leu					EGFLAM_ENST00000354891.3_Missense_Mutation_p.R92L	p.R92L	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			3	621	+	all_lung(31;0.000385)		92			Fibronectin type-III 1.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.275G>T	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	4.823	0.153059	0.09185	.	.	ENSG00000164318	ENST00000354891;ENST00000322350	T;T	0.54866	0.55;0.55	5.53	-2.63	0.06133	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.456243	0.21364	N	0.075759	T	0.14141	0.0342	N	0.00879	-1.12	0.26234	N	0.978961	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.12889	-1.0530	10	0.33141	T	0.24	-0.4811	0.7353	0.00964	0.3504:0.1024:0.2386:0.3085	.	92;92	Q63HQ2;Q63HQ2-2	EGFLA_HUMAN;.	L	92	ENSP00000346964:R92L;ENSP00000313084:R92L	ENSP00000313084:R92L	R	+	2	0	EGFLAM	38374624	0.151000	0.22747	0.042000	0.18584	0.025000	0.11179	0.123000	0.15708	-0.815000	0.04346	-0.137000	0.14449	CGG		0.547	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		14	27	1	0	0.0202918	1	0.0205579	14	27				
PRSS3P2	154754	broad.mit.edu	37	7	142480030	142480030	+	RNA	SNP	C	C	A	rs201784749		TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr7:142480030C>A	ENST00000603901.1	+	0	162					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										CCCTCATCAGCGAACAGTGGG	0.572																																						ENST00000603901.1																			0																				73.0	56.0	61.0					7																	142480030		692	1591	2283			154754							g.chr7:142480030C>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142480030C>A								NR_001296.3						0	162	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.572	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		32	155	1	0	7.11191e-15	1	8.7553e-15	32	155				
GABRA1	2554	broad.mit.edu	37	5	161300189	161300189	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:161300189A>C	ENST00000428797.2	+	6	677	c.322A>C	c.(322-324)Atg>Ctg	p.M108L	GABRA1_ENST00000393943.4_Missense_Mutation_p.M108L|GABRA1_ENST00000420560.1_Missense_Mutation_p.M108L|GABRA1_ENST00000444819.1_Missense_Mutation_p.M108L|GABRA1_ENST00000437025.2_Missense_Mutation_p.M108L|GABRA1_ENST00000023897.6_Missense_Mutation_p.M108L	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	108					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	TAAAGGACCTATGACAGTCCT	0.383																																						ENST00000428797.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(322-324)Atg>Ctg		gamma-aminobutyric acid (GABA) A receptor, alpha 1	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						86.0	90.0	88.0					5																	161300189		2203	4300	6503	SO:0001583	missense	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161300189A>C		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.322A>C	5.37:g.161300189A>C	ENSP00000393097:p.Met108Leu					GABRA1_ENST00000023897.6_Missense_Mutation_p.M108L|GABRA1_ENST00000437025.2_Missense_Mutation_p.M108L|GABRA1_ENST00000444819.1_Missense_Mutation_p.M108L|GABRA1_ENST00000393943.4_Missense_Mutation_p.M108L|GABRA1_ENST00000420560.1_Missense_Mutation_p.M108L	p.M108L	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	6	677	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	108					D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	c.322A>C	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	A	19.03	3.747564	0.69533	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819;ENST00000519621	T;T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	5.85	5.85	0.93711	Neurotransmitter-gated ion-channel ligand-binding (3);	0.077821	0.85682	D	0.000000	T	0.75895	0.3912	L	0.48986	1.54	0.80722	D	1	B	0.18968	0.032	B	0.27170	0.077	T	0.72388	-0.4309	10	0.54805	T	0.06	.	16.2365	0.82377	1.0:0.0:0.0:0.0	.	108	P14867	GBRA1_HUMAN	L	108	ENSP00000023897:M108L;ENSP00000393097:M108L;ENSP00000377517:M108L;ENSP00000415441:M108L;ENSP00000408041:M108L;ENSP00000414232:M108L;ENSP00000430435:M108L	ENSP00000023897:M108L	M	+	1	0	GABRA1	161232767	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.228000	0.95250	2.238000	0.73509	0.477000	0.44152	ATG		0.383	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		58	77	0	0	0	1	0	58	77				
EPHA6	285220	broad.mit.edu	37	3	97251285	97251285	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:97251285G>T	ENST00000514100.1	+	8	702	c.460G>T	c.(460-462)Ggc>Tgc	p.G154C	EPHA6_ENST00000442602.2_Missense_Mutation_p.G128C|EPHA6_ENST00000389672.5_Missense_Mutation_p.G762C|EPHA6_ENST00000502694.1_Missense_Mutation_p.G154C	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	668	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TTTGAAAGGTGGCCACATGGA	0.428																																						ENST00000389672.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						c.(2284-2286)Ggc>Tgc		EPH receptor A6							106.0	102.0	103.0					3																	97251285		1861	4107	5968	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97251285G>T	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.460G>T	3.37:g.97251285G>T	ENSP00000421711:p.Gly154Cys					EPHA6_ENST00000514100.1_Missense_Mutation_p.G154C|EPHA6_ENST00000442602.2_Missense_Mutation_p.G128C|EPHA6_ENST00000502694.1_Missense_Mutation_p.G154C	p.G762C	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN			11	2322	+			667			Protein kinase.		D6RAL5	Missense_Mutation	SNP	ENST00000514100.1	37	c.2284G>T		.	.	.	.	.	.	.	.	.	.	G	27.5	4.838279	0.91117	.	.	ENSG00000080224	ENST00000389672;ENST00000514100;ENST00000502694;ENST00000442602	D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71	5.7	5.7	0.88788	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.89602	0.6762	L	0.52759	1.655	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;1.0	D;D;D;D	0.97110	0.995;0.954;1.0;0.995	D	0.89911	0.4052	9	0.87932	D	0	.	19.8316	0.96638	0.0:0.0:1.0:0.0	.	128;667;154;154	B4DXQ6;Q9UF33;Q9UF33-2;D6RAL5	.;EPHA6_HUMAN;.;.	C	762;154;154;128	ENSP00000374323:G762C;ENSP00000421711:G154C;ENSP00000423950:G154C;ENSP00000403100:G128C	ENSP00000374323:G762C	G	+	1	0	EPHA6	98733975	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.869000	0.99810	2.687000	0.91594	0.563000	0.77884	GGC		0.428	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000359997.1	NM_001080448		29	83	1	0	1.68575e-08	1	1.92925e-08	29	83				
ARHGAP32	9743	broad.mit.edu	37	11	128993380	128993380	+	Silent	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:128993380C>A	ENST00000310343.9	-	4	362	c.363G>T	c.(361-363)gcG>gcT	p.A121A	ARHGAP32_ENST00000524655.1_Silent_p.A47A	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	121					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						AATGGAAATGCGCACATTCAG	0.328																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(361-363)gcG>gcT		Rho GTPase activating protein 32							111.0	98.0	102.0					11																	128993380		1566	3579	5145	SO:0001819	synonymous_variant	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128993380C>A	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.363G>T	11.37:g.128993380C>A						ARHGAP32_ENST00000524655.1_Silent_p.A47A	p.A121A	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			4	362	-			121					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Silent	SNP	ENST00000310343.9	37	c.363G>T	CCDS44769.1																																																																																				0.328	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		10	18	1	0	1.08611e-07	1	1.22484e-07	10	18				
HSPA12A	259217	broad.mit.edu	37	10	118460580	118460580	+	Silent	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr10:118460580C>A	ENST00000369209.3	-	4	419	c.315G>T	c.(313-315)ctG>ctT	p.L105L		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	105						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TCTCGGGAGTCAGCAAGATGG	0.557																																						ENST00000369209.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(313-315)ctG>ctT		heat shock 70kDa protein 12A							80.0	86.0	84.0					10																	118460580		2123	4242	6365	SO:0001819	synonymous_variant	259217						ATP binding	g.chr10:118460580C>A	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.315G>T	10.37:g.118460580C>A							p.L105L	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN		all cancers(201;0.0158)	4	419	-			105						Silent	SNP	ENST00000369209.3	37	c.315G>T	CCDS41569.1																																																																																				0.557	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		40	87	1	0	1.22674e-20	1	1.61993e-20	40	87				
LRRC4C	57689	broad.mit.edu	37	11	40137647	40137647	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:40137647T>A	ENST00000278198.2	-	2	2159	c.196A>T	c.(196-198)Aac>Tac	p.N66Y	LRRC4C_ENST00000530763.1_Missense_Mutation_p.N66Y|LRRC4C_ENST00000527150.1_Missense_Mutation_p.N66Y|LRRC4C_ENST00000528697.1_Missense_Mutation_p.N66Y			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	66	LRRNT.				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)				TCACGCAGGTTTTTCCGAACA	0.522																																						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.(196-198)Aac>Tac		leucine rich repeat containing 4C							90.0	78.0	82.0					11																	40137647		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137647T>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.196A>T	11.37:g.40137647T>A	ENSP00000278198:p.Asn66Tyr					LRRC4C_ENST00000528697.1_Missense_Mutation_p.N66Y|LRRC4C_ENST00000527150.1_Missense_Mutation_p.N66Y|LRRC4C_ENST00000530763.1_Missense_Mutation_p.N66Y	p.N66Y			Q9HCJ2	LRC4C_HUMAN			2	2159	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	66			LRRNT.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.196A>T	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	T	17.29	3.351057	0.61183	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.05258	3.47;3.47;3.47;3.47	5.76	5.76	0.90799	Leucine-rich repeat-containing N-terminal (1);	0.098369	0.64402	D	0.000001	T	0.08447	0.0210	L	0.45352	1.415	0.44523	D	0.997478	B	0.28760	0.221	B	0.27887	0.084	T	0.09079	-1.0691	10	0.59425	D	0.04	.	15.2431	0.73485	0.0:0.0:0.0:1.0	.	66	Q9HCJ2	LRC4C_HUMAN	Y	66	ENSP00000278198:N66Y;ENSP00000436976:N66Y;ENSP00000437132:N66Y;ENSP00000434761:N66Y	ENSP00000278198:N66Y	N	-	1	0	LRRC4C	40094223	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.958000	0.63660	2.194000	0.70268	0.528000	0.53228	AAC		0.522	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		15	40	0	0	0	1	0	15	40				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		6	99	0	0	0	1	0	6	99				
DCAF12L2	340578	broad.mit.edu	37	X	125298719	125298719	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chrX:125298719G>T	ENST00000360028.2	-	1	1215	c.1189C>A	c.(1189-1191)Ccc>Acc	p.P397T	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.P397T			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	397										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CTCCCTGCGGGCCCCGGCATG	0.617																																						ENST00000538699.1																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(1189-1191)Ccc>Acc		DDB1 and CUL4 associated factor 12-like 2							72.0	76.0	75.0					X																	125298719		2199	4299	6498	SO:0001583	missense	340578							g.chrX:125298719G>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1189C>A	X.37:g.125298719G>T	ENSP00000353128:p.Pro397Thr					DCAF12L2_ENST00000360028.2_Missense_Mutation_p.P397T	p.P397T	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	1269	-			397					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.1189C>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.726914	0.00694	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.18016	2.24;2.24	4.14	-1.33	0.09172	.	0.726289	0.11388	N	0.569088	T	0.12305	0.0299	L	0.50333	1.59	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.35748	-0.9776	10	0.24483	T	0.36	.	3.3705	0.07219	0.4352:0.0:0.2296:0.3352	.	397	Q5VW00	DC122_HUMAN	T	397	ENSP00000441489:P397T;ENSP00000353128:P397T	ENSP00000353128:P397T	P	-	1	0	DCAF12L2	125126400	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.061000	0.14366	-0.449000	0.07117	-0.380000	0.06706	CCC		0.617	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		74	34	1	0	2.51111e-31	1	3.511e-31	74	34				
MAP3K7	6885	broad.mit.edu	37	6	91260237	91260237	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr6:91260237T>C	ENST00000369329.3	-	9	1060	c.899A>G	c.(898-900)tAt>tGt	p.Y300C	MAP3K7_ENST00000369320.1_5'UTR|MAP3K7_ENST00000369327.3_Missense_Mutation_p.Y300C|MAP3K7_ENST00000369332.3_Missense_Mutation_p.Y300C|MAP3K7_ENST00000369325.3_Missense_Mutation_p.Y300C	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	300	Interaction with MAPK8IP1. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|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 I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTGACAAGGATACTGTAATGG	0.333																																						ENST00000369329.3																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28						c.(898-900)tAt>tGt		mitogen-activated protein kinase kinase kinase 7							110.0	107.0	108.0					6																	91260237		2203	4300	6503	SO:0001583	missense	6885				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr6:91260237T>C	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.899A>G	6.37:g.91260237T>C	ENSP00000358335:p.Tyr300Cys					MAP3K7_ENST00000369332.3_Missense_Mutation_p.Y300C|MAP3K7_ENST00000369320.1_5'UTR|MAP3K7_ENST00000369325.3_Missense_Mutation_p.Y300C|MAP3K7_ENST00000369327.3_Missense_Mutation_p.Y300C	p.Y300C	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)	9	1060	-		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)	300					B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Missense_Mutation	SNP	ENST00000369329.3	37	c.899A>G	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.963726	0.74016	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369325;ENST00000369327;ENST00000450832	T;T;T;T	0.76839	-0.99;-1.04;-1.05;-0.99	5.74	5.74	0.90152	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.75384	0.3842	N	0.19112	0.55	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.77004	0.98;0.97;0.989;0.966	T	0.80407	-0.1395	10	0.54805	T	0.06	.	15.7028	0.77555	0.0:0.0:0.0:1.0	.	300;300;300;300	O43318-4;O43318-2;O43318-3;O43318	.;.;.;M3K7_HUMAN	C	300;300;300;300;227	ENSP00000358338:Y300C;ENSP00000358335:Y300C;ENSP00000358331:Y300C;ENSP00000358333:Y300C	ENSP00000358331:Y300C	Y	-	2	0	MAP3K7	91316958	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.196000	0.58407	2.185000	0.69588	0.455000	0.32223	TAT		0.333	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331		14	19	0	0	0	1	0	14	19				
MAP2	4133	broad.mit.edu	37	2	210543348	210543348	+	Silent	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:210543348C>T	ENST00000360351.4	+	5	821	c.315C>T	c.(313-315)gtC>gtT	p.V105V	MAP2_ENST00000199940.6_Silent_p.V105V|MAP2_ENST00000447185.1_Silent_p.V105V|MAP2_ENST00000361559.4_Silent_p.V105V|MAP2_ENST00000392194.1_Silent_p.V105V	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	105					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CTGTAGCAGTCCTGAAAGGTG	0.413																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(313-315)gtC>gtT		microtubule-associated protein 2	Estramustine(DB01196)						116.0	110.0	112.0					2																	210543348		2203	4300	6503	SO:0001819	synonymous_variant	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210543348C>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.315C>T	2.37:g.210543348C>T						MAP2_ENST00000447185.1_Silent_p.V105V|MAP2_ENST00000361559.4_Silent_p.V105V|MAP2_ENST00000199940.6_Silent_p.V105V|MAP2_ENST00000392194.1_Silent_p.V105V	p.V105V	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	5	821	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	105					Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	37	c.315C>T	CCDS2384.1																																																																																				0.413	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		27	45	0	0	0	1	0	27	45				
MACF1	23499	broad.mit.edu	37	1	39889794	39889794	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:39889794G>A	ENST00000372915.3	+	60	16346	c.16259G>A	c.(16258-16260)aGa>aAa	p.R5420K	MACF1_ENST00000361689.2_Missense_Mutation_p.R3353K|MACF1_ENST00000545844.1_Missense_Mutation_p.R3353K|MACF1_ENST00000564288.1_Missense_Mutation_p.R5415K|MACF1_ENST00000317713.7_Missense_Mutation_p.R3353K|MACF1_ENST00000567887.1_Missense_Mutation_p.R5452K|MACF1_ENST00000539005.1_Missense_Mutation_p.R3332K|MACF1_ENST00000289893.4_Missense_Mutation_p.R3855K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5420					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGGCTGATAGAGAGAAAATC	0.483																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(16243-16245)aGa>aAa		microtubule-actin crosslinking factor 1							94.0	94.0	94.0					1																	39889794		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39889794G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.16259G>A	1.37:g.39889794G>A	ENSP00000362006:p.Arg5420Lys					MACF1_ENST00000539005.1_Missense_Mutation_p.R3332K|MACF1_ENST00000289893.4_Missense_Mutation_p.R3855K|MACF1_ENST00000317713.7_Missense_Mutation_p.R3353K|MACF1_ENST00000372915.3_Missense_Mutation_p.R5420K|MACF1_ENST00000567887.1_Missense_Mutation_p.R5452K|MACF1_ENST00000545844.1_Missense_Mutation_p.R3353K|MACF1_ENST00000361689.2_Missense_Mutation_p.R3353K	p.R5415K			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		61	17021	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	5420					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.16244G>A		.	.	.	.	.	.	.	.	.	.	G	9.925	1.213117	0.22289	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000482035	T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.48	4.56	0.56223	.	0.093871	0.46442	D	0.000285	T	0.23965	0.0580	N	0.05280	-0.08	0.80722	D	1	B;B;B	0.33212	0.402;0.073;0.004	B;B;B	0.33846	0.171;0.042;0.016	T	0.13415	-1.0510	10	0.06236	T	0.91	.	13.6778	0.62465	0.0742:0.0:0.9258:0.0	.	5420;3353;3297	Q9UPN3;F8W8Q1;Q9UPN3-3	MACF1_HUMAN;.;.	K	3353;5420;3353;3353;3332;3855;169	ENSP00000439537:R3353K;ENSP00000362006:R5420K;ENSP00000354573:R3353K;ENSP00000313438:R3353K;ENSP00000444364:R3332K;ENSP00000289893:R3855K;ENSP00000433104:R169K	ENSP00000289893:R3855K	R	+	2	0	MACF1	39662381	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.422000	0.52749	2.569000	0.86673	0.655000	0.94253	AGA		0.483	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		29	63	0	0	0	1	0	29	63				
COL19A1	1310	broad.mit.edu	37	6	70886424	70886424	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr6:70886424C>A	ENST00000322773.4	+	42	2737	c.2635C>A	c.(2635-2637)Cca>Aca	p.P879T	COL19A1_ENST00000393344.1_Missense_Mutation_p.P501T	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	879	Collagen-like 9.|Triple-helical region 5 (COL5).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGATCGAGGCCCAGCAGGTCC	0.398																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(2635-2637)Cca>Aca		collagen, type XIX, alpha 1							126.0	118.0	121.0					6																	70886424		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70886424C>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2635C>A	6.37:g.70886424C>A	ENSP00000316030:p.Pro879Thr					COL19A1_ENST00000393344.1_Missense_Mutation_p.P501T	p.P879T	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			42	2737	+			879			Triple-helical region 5 (COL5).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.2635C>A	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.071828	0.55646	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.96651	-4.08;-4.08	5.19	5.19	0.71726	.	0.085364	0.49916	D	0.000128	D	0.96870	0.8978	M	0.72118	2.19	0.45205	D	0.998215	D	0.89917	1.0	D	0.91635	0.999	D	0.95677	0.8729	10	0.15499	T	0.54	.	15.4606	0.75353	0.0:1.0:0.0:0.0	.	879	Q14993	COJA1_HUMAN	T	879;501	ENSP00000316030:P879T;ENSP00000377013:P501T	ENSP00000316030:P879T	P	+	1	0	COL19A1	70943145	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.734000	0.62043	2.431000	0.82371	0.591000	0.81541	CCA		0.398	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			21	22	1	0	1.64293e-13	1	1.97536e-13	21	22				
GAP43	2596	broad.mit.edu	37	3	115395168	115395168	+	Silent	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:115395168G>A	ENST00000305124.6	+	2	705	c.339G>A	c.(337-339)aaG>aaA	p.K113K	GAP43_ENST00000393780.3_Silent_p.K149K	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	113					axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		AGGAGAAGAAGGGGGAGGGTG	0.607																																						ENST00000393780.3																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(445-447)aaG>aaA		growth associated protein 43							31.0	34.0	33.0					3																	115395168		2203	4300	6503	SO:0001819	synonymous_variant	2596				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding	g.chr3:115395168G>A		CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"""neuron growth-associated protein 43"", ""neuromodulin"", ""nerve growth-related peptide GAP43"", ""axonal membrane protein GAP-43"", ""protein F1"", ""calmodulin-binding protein P-57"", ""neural phosphoprotein B-50"""	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.339G>A	3.37:g.115395168G>A						GAP43_ENST00000305124.6_Silent_p.K113K	p.K149K	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN		GBM - Glioblastoma multiforme(114;0.164)	3	915	+			113					A8K0Y4	Silent	SNP	ENST00000305124.6	37	c.447G>A	CCDS33830.1																																																																																				0.607	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258216.2	NM_002045		13	50	0	0	0	1	0	13	50				
HAVCR1	26762	broad.mit.edu	37	5	156482413	156482413	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:156482413C>T	ENST00000339252.3	-	2	710	c.178G>A	c.(178-180)Ggc>Agc	p.G60S	HAVCR1_ENST00000523175.1_Missense_Mutation_p.G60S|HAVCR1_ENST00000522693.1_Missense_Mutation_p.G60S|HAVCR1_ENST00000544197.1_Missense_Mutation_p.G60S|HAVCR1_ENST00000425854.1_Missense_Mutation_p.G60S	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	Ig-like V-type.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAGACAATGCCATTTTGGCAT	0.493																																						ENST00000339252.3																			0				endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(178-180)Ggc>Agc		hepatitis A virus cellular receptor 1							92.0	84.0	87.0					5																	156482413		2003	4190	6193	SO:0001583	missense	26762				interspecies interaction between organisms	integral to membrane	receptor activity	g.chr5:156482413C>T	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"""Immunoglobulin superfamily / V-set domain containing"""	17866	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 1"""	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.178G>A	5.37:g.156482413C>T	ENSP00000344844:p.Gly60Ser					HAVCR1_ENST00000544197.1_Missense_Mutation_p.G60S|HAVCR1_ENST00000522693.1_Missense_Mutation_p.G60S|HAVCR1_ENST00000523175.1_Missense_Mutation_p.G60S|HAVCR1_ENST00000425854.1_Missense_Mutation_p.G60S	p.G60S	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	710	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	60			Ig-like V-type.		O43656	Missense_Mutation	SNP	ENST00000339252.3	37	c.178G>A	CCDS43392.1	.	.	.	.	.	.	.	.	.	.	C	7.837	0.721142	0.15372	.	.	ENSG00000113249	ENST00000522693;ENST00000523175;ENST00000339252;ENST00000425854;ENST00000544197;ENST00000518745	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	5.58	-3.64	0.04515	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.433110	0.01446	N	0.015310	T	0.14787	0.0357	N	0.01352	-0.895	0.09310	N	1	B;B	0.20671	0.047;0.047	B;B	0.19148	0.024;0.024	T	0.26538	-1.0100	10	0.08381	T	0.77	-0.3952	8.1234	0.30984	0.0:0.189:0.4483:0.3628	.	60;60	F1CME6;Q96D42	.;HAVR1_HUMAN	S	60	ENSP00000428524:G60S;ENSP00000427898:G60S;ENSP00000344844:G60S;ENSP00000403333:G60S;ENSP00000440258:G60S;ENSP00000428422:G60S	ENSP00000344844:G60S	G	-	1	0	HAVCR1	156414991	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.478000	0.02329	-0.797000	0.04450	-0.143000	0.13931	GGC		0.493	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			14	47	0	0	0	1	0	14	47				
ARHGAP31	57514	broad.mit.edu	37	3	119121027	119121027	+	Silent	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:119121027G>A	ENST00000264245.4	+	10	1960	c.1428G>A	c.(1426-1428)tcG>tcA	p.S476S		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	476					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TGGAGCCCTCGCCGCGTAACC	0.592																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(1426-1428)tcG>tcA		Rho GTPase activating protein 31							66.0	76.0	72.0					3																	119121027		2070	4213	6283	SO:0001819	synonymous_variant	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119121027G>A		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.1428G>A	3.37:g.119121027G>A							p.S476S	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			10	1960	+			476					Q9ULL6	Silent	SNP	ENST00000264245.4	37	c.1428G>A	CCDS43135.1																																																																																				0.592	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			46	119	0	0	0	1	0	46	119				
AZGP1	563	broad.mit.edu	37	7	99564745	99564745	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr7:99564745C>A	ENST00000292401.4	-	4	914	c.778G>T	c.(778-780)Ggc>Tgc	p.G260C	AZGP1_ENST00000411734.1_3'UTR|AZGP1_ENST00000483612.1_5'UTR	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	260	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TGGTAAGTGCCATTTCCATTG	0.622																																						ENST00000292401.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16						c.(778-780)Ggc>Tgc		alpha-2-glycoprotein 1, zinc-binding							74.0	56.0	62.0					7																	99564745		2203	4300	6503	SO:0001583	missense	563				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	g.chr7:99564745C>A	BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"""Immunoglobulin superfamily / C1-set domain containing"""	910	protein-coding gene	gene with protein product		194460	"""alpha-2-glycoprotein 1, zinc"""			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.778G>T	7.37:g.99564745C>A	ENSP00000292401:p.Gly260Cys					AZGP1_ENST00000411734.1_3'UTR|AZGP1_ENST00000483612.1_5'UTR	p.G260C	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN			4	914	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		260			Ig-like C1-type.		D6W5T8|O60386|Q5XKQ4|Q8N4N0	Missense_Mutation	SNP	ENST00000292401.4	37	c.778G>T	CCDS5680.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569048	0.45798	.	.	ENSG00000160862	ENST00000292401	T	0.03441	3.93	2.17	1.24	0.21308	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.525300	0.14142	U	0.338629	T	0.23370	0.0565	H	0.96301	3.8	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.01326	-1.1384	10	0.87932	D	0	.	6.9745	0.24666	0.0:0.8367:0.0:0.1633	.	260	P25311	ZA2G_HUMAN	C	260	ENSP00000292401:G260C	ENSP00000292401:G260C	G	-	1	0	AZGP1	99402681	0.583000	0.26757	0.439000	0.26833	0.139000	0.21198	1.492000	0.35594	0.189000	0.20188	0.313000	0.20887	GGC		0.622	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	NM_001185		34	80	1	0	2.08457e-15	1	2.62911e-15	34	80				
TTN	7273	broad.mit.edu	37	2	179443831	179443831	+	Silent	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:179443831G>T	ENST00000591111.1	-	270	63227	c.63003C>A	c.(63001-63003)ggC>ggA	p.G21001G	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.G13769G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.G20074G|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.G22642G|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.G13702G|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.G13577G|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21001					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCCAGGCTTGCCAACAACCT	0.443																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(67924-67926)ggC>ggA		titin							121.0	114.0	116.0					2																	179443831		1948	4152	6100	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179443831G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.63003C>A	2.37:g.179443831G>T						TTN_ENST00000342992.6_Silent_p.G20074G|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.G13769G|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.G13702G|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Silent_p.G21001G|TTN_ENST00000460472.2_Silent_p.G13577G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA	p.G22642G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		320	68150	-			21001			Fibronectin type-III 64.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.67926C>A																																																																																					0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		35	57	1	0	7.11191e-15	1	8.7553e-15	35	57				
IL5RA	3568	broad.mit.edu	37	3	3144489	3144489	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:3144489G>T	ENST00000446632.2	-	4	672	c.98C>A	c.(97-99)cCt>cAt	p.P33H	IL5RA_ENST00000256452.3_Missense_Mutation_p.P33H|IL5RA_ENST00000445864.2_Missense_Mutation_p.P33H|IL5RA_ENST00000456302.1_Missense_Mutation_p.P33H|IL5RA_ENST00000311981.8_Missense_Mutation_p.P33H|IL5RA_ENST00000383846.1_Missense_Mutation_p.P33H|IL5RA_ENST00000418488.2_Missense_Mutation_p.P33H|SNORA43_ENST00000517240.1_RNA|IL5RA_ENST00000430514.2_Missense_Mutation_p.P33H|IL5RA_ENST00000438560.1_Missense_Mutation_p.P33H	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	33	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		GAAATTGACAGGTGGGAGAAG	0.343																																					GBM(169;430 2801 24955 28528)	ENST00000446632.2																			0				cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24						c.(97-99)cCt>cAt		interleukin 5 receptor, alpha							70.0	70.0	70.0					3																	3144489		2203	4299	6502	SO:0001583	missense	3568				cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	g.chr3:3144489G>T	M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"""Interleukins and interleukin receptors"", ""CD molecules"""	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.98C>A	3.37:g.3144489G>T	ENSP00000412209:p.Pro33His					IL5RA_ENST00000438560.1_Missense_Mutation_p.P33H|IL5RA_ENST00000418488.2_Missense_Mutation_p.P33H|IL5RA_ENST00000256452.3_Missense_Mutation_p.P33H|IL5RA_ENST00000430514.2_Missense_Mutation_p.P33H|IL5RA_ENST00000456302.1_Missense_Mutation_p.P33H|IL5RA_ENST00000311981.8_Missense_Mutation_p.P33H|IL5RA_ENST00000445864.2_Missense_Mutation_p.P33H|IL5RA_ENST00000383846.1_Missense_Mutation_p.P33H	p.P33H	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN		Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)	4	672	-			33					B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP	ENST00000446632.2	37	c.98C>A	CCDS2559.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839734	0.71488	.	.	ENSG00000091181	ENST00000446632;ENST00000438560;ENST00000256452;ENST00000418488;ENST00000445864;ENST00000383846;ENST00000311981;ENST00000430514;ENST00000456302;ENST00000445701;ENST00000427088	T;T;T;D;D;T;T;T;T;D;T	0.99863	-1.03;-1.03;-1.03;-7.27;-7.27;-1.03;-1.03;-1.03;-1.03;-7.27;-1.03	4.8	4.8	0.61643	Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000010	D	0.99813	0.9918	M	0.75264	2.295	0.54753	D	0.99998	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;0.999;0.999	D	0.96459	0.9340	10	0.87932	D	0	-23.8289	14.9531	0.71091	0.0:0.0:1.0:0.0	.	33;33;33;33;33;33	B4E2G0;Q01344-3;Q01344-2;Q01344;B3IU77;E7ERY4	.;.;.;IL5RA_HUMAN;.;.	H	33	ENSP00000412209:P33H;ENSP00000390753:P33H;ENSP00000256452:P33H;ENSP00000388858:P33H;ENSP00000402598:P33H;ENSP00000373358:P33H;ENSP00000309196:P33H;ENSP00000400400:P33H;ENSP00000392059:P33H;ENSP00000398117:P33H;ENSP00000391274:P33H	ENSP00000256452:P33H	P	-	2	0	IL5RA	3119489	1.000000	0.71417	0.983000	0.44433	0.984000	0.73092	5.881000	0.69706	2.348000	0.79779	0.557000	0.71058	CCT		0.343	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337537.2			14	20	1	0	6.31663e-08	1	7.17587e-08	14	20				
MYH13	8735	broad.mit.edu	37	17	10206726	10206726	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:10206726C>A	ENST00000418404.3	-	37	5719	c.5556G>T	c.(5554-5556)aaG>aaT	p.K1852N	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.K1852N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1852					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.K1852N(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AAGTCATCTCCTTGACTTTGC	0.542																																						ENST00000418404.3																			2	Substitution - Missense(2)	p.K1852N(2)	upper_aerodigestive_tract(2)	breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(5554-5556)aaG>aaT		myosin, heavy chain 13, skeletal muscle							149.0	149.0	149.0					17																	10206726		1935	4161	6096	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10206726C>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5556G>T	17.37:g.10206726C>A	ENSP00000404570:p.Lys1852Asn					MYH13_ENST00000570743.1_Missense_Mutation_p.K1852N|MYH13_ENST00000252172.4_Missense_Mutation_p.K1852N	p.K1852N			Q9UKX3	MYH13_HUMAN			37	5719	-			1852					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.5556G>T	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315573	0.60524	.	.	ENSG00000006788	ENST00000252172	D	0.83075	-1.68	3.92	0.804	0.18697	Myosin tail (1);	.	.	.	.	D	0.93064	0.7792	H	0.98218	4.175	0.35282	D	0.781437	D	0.69078	0.997	D	0.75484	0.986	D	0.92935	0.6367	9	0.87932	D	0	.	8.5744	0.33590	0.0:0.6439:0.0:0.3561	.	1852	Q9UKX3	MYH13_HUMAN	N	1852	ENSP00000252172:K1852N	ENSP00000252172:K1852N	K	-	3	2	MYH13	10147451	1.000000	0.71417	0.997000	0.53966	0.930000	0.56654	0.824000	0.27379	0.405000	0.25532	0.561000	0.74099	AAG		0.542	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		56	131	1	0	4.88506e-25	1	6.59162e-25	56	131				
FAM189A2	9413	broad.mit.edu	37	9	71998550	71998550	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:71998550G>C	ENST00000257515.8	+	7	919	c.499G>C	c.(499-501)Gtt>Ctt	p.V167L	FAM189A2_ENST00000455972.1_Missense_Mutation_p.V167L|FAM189A2_ENST00000303068.7_Missense_Mutation_p.V2L	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	167						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						TCCTAGGATGGTTGGTCCTGA	0.537																																						ENST00000257515.8																			0				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(499-501)Gtt>Ctt		family with sequence similarity 189, member A2							285.0	248.0	261.0					9																	71998550		2203	4300	6503	SO:0001583	missense	9413					integral to membrane		g.chr9:71998550G>C	L27479	CCDS6629.1	9q21.11	2009-07-09	2009-07-09	2009-07-09	ENSG00000135063	ENSG00000135063			24820	protein-coding gene	gene with protein product		607710	"""chromosome 9 open reading frame 61"""	C9orf61		7951235	Standard	NM_004816		Approved	X123	uc010mon.1	Q15884	OTTHUMG00000019979	ENST00000257515.8:c.499G>C	9.37:g.71998550G>C	ENSP00000257515:p.Val167Leu					FAM189A2_ENST00000455972.1_Missense_Mutation_p.V167L|FAM189A2_ENST00000303068.7_Missense_Mutation_p.V2L	p.V167L	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN			7	919	+			167					Q14CN5|Q5T6C8|Q5T6C9|Q6ZTX4|Q96N10	Missense_Mutation	SNP	ENST00000257515.8	37	c.499G>C	CCDS6629.1	.	.	.	.	.	.	.	.	.	.	G	4.242	0.043855	0.08196	.	.	ENSG00000135063	ENST00000455972;ENST00000257515;ENST00000303068;ENST00000377225	T;T;T	0.28454	4.04;4.04;1.61	5.95	4.09	0.47781	.	0.317657	0.30676	N	0.009111	T	0.11580	0.0282	N	0.04705	-0.18	0.30825	N	0.737341	B;B	0.11235	0.004;0.0	B;B	0.13407	0.009;0.001	T	0.26326	-1.0106	10	0.02654	T	1	-6.5844	7.7461	0.28869	0.1393:0.3146:0.5461:0.0	.	2;167	F2Z2T9;Q15884	.;F1892_HUMAN	L	167;167;2;166	ENSP00000395675:V167L;ENSP00000257515:V167L;ENSP00000304435:V2L	ENSP00000257515:V167L	V	+	1	0	FAM189A2	71188370	0.982000	0.34865	0.997000	0.53966	0.959000	0.62525	0.955000	0.29188	1.510000	0.48803	0.655000	0.94253	GTT		0.537	FAM189A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052576.2	NM_004816		80	188	0	0	0	1	0	80	188				
CDH10	1008	broad.mit.edu	37	5	24488133	24488133	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:24488133G>A	ENST00000264463.4	-	12	2513	c.2006C>T	c.(2005-2007)gCc>gTc	p.A669V	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	669					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GATATCAAAGGCCTGGGTGTC	0.463										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(2005-2007)gCc>gTc		cadherin 10, type 2 (T2-cadherin)							63.0	65.0	65.0					5																	24488133		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24488133G>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2006C>T	5.37:g.24488133G>A	ENSP00000264463:p.Ala669Val	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.A669V	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2513	-			669					Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.2006C>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781240	0.90282	.	.	ENSG00000040731	ENST00000264463	T	0.80393	-1.37	5.46	5.46	0.80206	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.92580	0.7643	M	0.93594	3.435	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.94188	0.7438	10	0.87932	D	0	.	18.2977	0.90153	0.0:0.0:1.0:0.0	.	669	Q9Y6N8	CAD10_HUMAN	V	669	ENSP00000264463:A669V	ENSP00000264463:A669V	A	-	2	0	CDH10	24523890	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.658000	0.98594	2.580000	0.87095	0.655000	0.94253	GCC		0.463	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		35	81	0	0	0	1	0	35	81				
CATSPER1	117144	broad.mit.edu	37	11	65792739	65792739	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:65792739C>T	ENST00000312106.5	-	1	1249	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	371					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.R371H(1)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GACACGTGAGCGGATTGTGCT	0.557																																						ENST00000312106.5																			1	Substitution - Missense(1)	p.R371H(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1111-1113)cGc>cAc		cation channel, sperm associated 1							138.0	114.0	122.0					11																	65792739		2201	4296	6497	SO:0001583	missense	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65792739C>T	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.1112G>A	11.37:g.65792739C>T	ENSP00000309052:p.Arg371His						p.R371H	NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN			1	1249	-			371					Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	c.1112G>A	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	C	0.898	-0.723131	0.03158	.	.	ENSG00000175294	ENST00000312106	D	0.97620	-4.46	2.02	-1.88	0.07713	.	.	.	.	.	D	0.82618	0.5076	N	0.00583	-1.355	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.78738	-0.2087	9	0.10377	T	0.69	0.1168	2.9718	0.05925	0.0:0.3088:0.2419:0.4494	.	371	Q8NEC5	CTSR1_HUMAN	H	371	ENSP00000309052:R371H	ENSP00000309052:R371H	R	-	2	0	CATSPER1	65549315	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.380000	0.00491	-0.509000	0.06532	-2.363000	0.00238	CGC		0.557	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		10	63	0	0	0	1	0	10	63				
CCNL2	81669	broad.mit.edu	37	1	1328777	1328777	+	Splice_Site	SNP	A	A	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:1328777A>G	ENST00000400809.3	-	5	663	c.658T>C	c.(658-660)Tgg>Cgg	p.W220R	CCNL2_ENST00000408918.4_Splice_Site_p.W220R|CCNL2_ENST00000408952.5_5'UTR|CCNL2_ENST00000505849.1_5'Flank	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	220	Cyclin-like 2.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TCAACTCACCATGAGGTCTGG	0.502																																						ENST00000400809.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13						c.e5+1		cyclin L2							215.0	170.0	185.0					1																	1328777		2203	4296	6499	SO:0001630	splice_region_variant	81669				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr1:1328777A>G	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.659+1T>C	1.37:g.1328777A>G						CCNL2_ENST00000408952.5_5'UTR|CCNL2_ENST00000408918.4_Splice_Site_p.W220_splice	p.W220_splice	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)	5	663	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	220			Cyclin-like 2.		A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Splice_Site	SNP	ENST00000400809.3	37	c.659_splice	CCDS30557.1	.	.	.	.	.	.	.	.	.	.	A	18.74	3.687628	0.68157	.	.	ENSG00000221978	ENST00000400809;ENST00000408918	T;T	0.56776	2.1;0.44	5.34	5.34	0.76211	Cyclin, C-terminal (1);Cyclin-like (3);	0.165787	0.44285	D	0.000476	T	0.78578	0.4305	M	0.92833	3.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.83996	0.0340	10	0.72032	D	0.01	.	14.6621	0.68879	1.0:0.0:0.0:0.0	.	220;220;220	F2Z3J5;Q96S94;Q96S94-2	.;CCNL2_HUMAN;.	R	220	ENSP00000383611:W220R;ENSP00000386158:W220R	ENSP00000383611:W220R	W	-	1	0	CCNL2	1318640	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.676000	0.91199	2.253000	0.74438	0.533000	0.62120	TGG		0.502	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937	Missense_Mutation	29	77	0	0	0	1	0	29	77				
C10orf11	83938	broad.mit.edu	37	10	77818527	77818527	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr10:77818527G>T	ENST00000372499.1	+	4	633	c.418G>T	c.(418-420)Gtg>Ttg	p.V140L	C10orf11_ENST00000593699.1_3'UTR	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	140					melanocyte differentiation (GO:0030318)					endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					CTTCATGAAGGTGGTGAAGCC	0.498																																						ENST00000372499.1																			0				endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10						c.(418-420)Gtg>Ttg		chromosome 10 open reading frame 11							134.0	124.0	128.0					10																	77818527		2203	4300	6503	SO:0001583	missense	83938							g.chr10:77818527G>T	AF267860	CCDS7351.1	10q22.3	2013-08-22			ENSG00000148655	ENSG00000148655			23405	protein-coding gene	gene with protein product	"""oculocutaneous albinism 7, autosomal recessive"""	614537				23395477	Standard	NM_032024		Approved	CDA017, OCA7	uc001jxi.3	Q9H2I8	OTTHUMG00000018532	ENST00000372499.1:c.418G>T	10.37:g.77818527G>T	ENSP00000361577:p.Val140Leu					C10orf11_ENST00000593699.1_3'UTR	p.V140L	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN			4	633	+	Prostate(51;0.0095)|all_epithelial(25;0.0221)		140					B1AVW6	Missense_Mutation	SNP	ENST00000372499.1	37	c.418G>T	CCDS7351.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685179	0.47991	.	.	ENSG00000148655	ENST00000354343;ENST00000372499	T	0.32988	1.43	5.66	4.75	0.60458	.	0.060253	0.64402	D	0.000003	T	0.30355	0.0762	M	0.70842	2.15	0.36436	D	0.865205	B	0.30763	0.294	B	0.29716	0.106	T	0.20571	-1.0271	10	0.23891	T	0.37	-30.6638	9.689	0.40116	0.2064:0.0:0.7936:0.0	.	140	Q9H2I8	CJ011_HUMAN	L	168;140	ENSP00000361577:V140L	ENSP00000346310:V168L	V	+	1	0	C10orf11	77488533	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.268000	0.65536	2.680000	0.91292	0.655000	0.94253	GTG		0.498	C10orf11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048839.1	NM_032024		26	68	1	0	1.1804e-14	1	1.44167e-14	26	68				
GPR119	139760	broad.mit.edu	37	X	129518776	129518776	+	Silent	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chrX:129518776G>T	ENST00000276218.2	-	1	735	c.646C>A	c.(646-648)Cgg>Agg	p.R216R		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	216					insulin secretion (GO:0030073)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						CTGGGAGTCCGTGGGGATCGA	0.527																																						ENST00000276218.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						c.(646-648)Cgg>Agg		G protein-coupled receptor 119							98.0	78.0	85.0					X																	129518776		2203	4300	6503	SO:0001819	synonymous_variant	139760					integral to membrane|plasma membrane	lipid binding	g.chrX:129518776G>T	AY288416	CCDS14625.1	Xq26.1	2014-01-30			ENSG00000147262	ENSG00000147262		"""GPCR / Class A : Orphans"""	19060	protein-coding gene	gene with protein product		300513				12044878, 14623098	Standard	NM_178471		Approved	hGPCR2, GPCR2	uc011muv.2	Q8TDV5	OTTHUMG00000022397	ENST00000276218.2:c.646C>A	X.37:g.129518776G>T							p.R216R	NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN			1	735	-			216					Q495H7|Q4VBN3	Silent	SNP	ENST00000276218.2	37	c.646C>A	CCDS14625.1																																																																																				0.527	GPR119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058270.1	NM_178471		29	26	1	0	1.17739e-12	1	1.40469e-12	29	26				
CHRNA3	1136	broad.mit.edu	37	15	78893755	78893755	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr15:78893755A>T	ENST00000326828.5	-	5	1613	c.1229T>A	c.(1228-1230)aTa>aAa	p.I410K	CHRNA3_ENST00000348639.3_Missense_Mutation_p.I410K	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	410					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	GGAGATTTTTATCCTGCGGTG	0.502																																						ENST00000326828.5																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1228-1230)aTa>aAa		cholinergic receptor, nicotinic, alpha 3 (neuronal)							131.0	116.0	121.0					15																	78893755		2196	4293	6489	SO:0001583	missense	1136				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78893755A>T		CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1957	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 3 (neuronal)"""	118503	"""cholinergic receptor, nicotinic, alpha polypeptide 3"""			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.1229T>A	15.37:g.78893755A>T	ENSP00000315602:p.Ile410Lys					CHRNA3_ENST00000348639.3_Missense_Mutation_p.I410K	p.I410K	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN			5	1613	-			410					Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	Missense_Mutation	SNP	ENST00000326828.5	37	c.1229T>A	CCDS10305.1	.	.	.	.	.	.	.	.	.	.	A	5.723	0.317897	0.10845	.	.	ENSG00000080644	ENST00000348639;ENST00000326828	D;D	0.85258	-1.96;-1.96	5.79	4.67	0.58626	Neurotransmitter-gated ion-channel transmembrane domain (2);	2.985150	0.00628	N	0.000467	T	0.77798	0.4184	L	0.28556	0.865	0.09310	N	1	B;B	0.31817	0.067;0.341	B;B	0.29598	0.079;0.104	T	0.62374	-0.6868	10	0.05833	T	0.94	.	10.3635	0.44010	0.8641:0.0:0.1359:0.0	.	410;410	P32297;P32297-3	ACHA3_HUMAN;.	K	410	ENSP00000267951:I410K;ENSP00000315602:I410K	ENSP00000315602:I410K	I	-	2	0	CHRNA3	76680810	0.012000	0.17670	0.018000	0.16275	0.951000	0.60555	2.574000	0.46016	1.020000	0.39573	0.482000	0.46254	ATA		0.502	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290111.3			93	65	0	0	0	1	0	93	65				
LRRC40	55631	broad.mit.edu	37	1	70618226	70618226	+	Splice_Site	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:70618226C>T	ENST00000370952.3	-	12	1408	c.1329G>A	c.(1327-1329)agG>agA	p.R443R		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	443						membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						GTTCTACCATCCTGAAACAAA	0.323																																						ENST00000370952.3																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						c.e12-1		leucine rich repeat containing 40							52.0	51.0	51.0					1																	70618226		2202	4292	6494	SO:0001630	splice_region_variant	55631							g.chr1:70618226C>T		CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.1329-1G>A	1.37:g.70618226C>T							p.R443_splice	NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN			12	1408	-			443					Q9BTR7|Q9NSK1|Q9NXC1	Splice_Site	SNP	ENST00000370952.3	37	c.1328_splice	CCDS646.1																																																																																				0.323	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025914.1	NM_017768	Silent	21	35	0	0	0	1	0	21	35				
NCKAP5	344148	broad.mit.edu	37	2	133542517	133542517	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:133542517A>C	ENST00000409261.1	-	14	2240	c.1867T>G	c.(1867-1869)Ttt>Gtt	p.F623V	NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000317721.6_Missense_Mutation_p.F623V|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	623										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GATTTTCCAAACCCCACAAGG	0.478																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(1867-1869)Ttt>Gtt		NCK-associated protein 5							63.0	65.0	64.0					2																	133542517		1916	4119	6035	SO:0001583	missense	344148						protein binding	g.chr2:133542517A>C	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.1867T>G	2.37:g.133542517A>C	ENSP00000387128:p.Phe623Val					NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.F623V	p.F623V	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	2240	-			623					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.1867T>G	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	a	3.847	-0.032703	0.07543	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.39406	1.08;1.08	5.64	1.01	0.19927	.	0.999372	0.08093	U	0.999063	T	0.28433	0.0703	L	0.29908	0.895	0.09310	N	1	B	0.26400	0.148	B	0.24394	0.053	T	0.24728	-1.0152	10	0.38643	T	0.18	.	5.134	0.14924	0.2954:0.0:0.4875:0.2172	.	623	O14513	NCKP5_HUMAN	V	623	ENSP00000387128:F623V;ENSP00000380603:F623V	ENSP00000380603:F623V	F	-	1	0	NCKAP5	133258987	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	0.292000	0.19011	-0.009000	0.14296	0.529000	0.55759	TTT		0.478	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		25	54	0	0	0	1	0	25	54				
JADE1	79960	broad.mit.edu	37	4	129773388	129773388	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr4:129773388G>A	ENST00000226319.6	+	6	941	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	PHF17_ENST00000511647.1_Missense_Mutation_p.V221M|PHF17_ENST00000512960.1_Missense_Mutation_p.V221M|PHF17_ENST00000413543.2_Missense_Mutation_p.V221M|PHF17_ENST00000452328.2_Missense_Mutation_p.V209M	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CAATGAGATGGTGTTCTGTGA	0.522																																						ENST00000226319.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(661-663)Gtg>Atg									179.0	147.0	158.0					4																	129773388		2203	4300	6503	SO:0001583	missense	79960				apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding	g.chr4:129773388G>A																												ENST00000226319.6:c.661G>A	4.37:g.129773388G>A	ENSP00000226319:p.Val221Met					PHF17_ENST00000511647.1_Missense_Mutation_p.V221M|PHF17_ENST00000413543.2_Missense_Mutation_p.V221M|PHF17_ENST00000452328.2_Missense_Mutation_p.V209M|PHF17_ENST00000512960.1_Missense_Mutation_p.V221M	p.V221M	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN			6	941	+			221						Missense_Mutation	SNP	ENST00000226319.6	37	c.661G>A	CCDS34062.1	.	.	.	.	.	.	.	.	.	.	G	33	5.278042	0.95459	.	.	ENSG00000077684	ENST00000226319;ENST00000511647;ENST00000452328;ENST00000512960;ENST00000535321;ENST00000413543	D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47	5.38	5.38	0.77491	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.94545	0.8243	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	D	0.93833	0.7129	9	.	.	.	.	19.3333	0.94303	0.0:0.0:1.0:0.0	.	209;221;221	Q6IE81-2;Q6IE81;Q6IE81-3	.;JADE1_HUMAN;.	M	221;221;209;221;221;221	ENSP00000226319:V221M;ENSP00000423737:V221M;ENSP00000388015:V209M;ENSP00000425730:V221M;ENSP00000404211:V221M	.	V	+	1	0	PHF17	129992838	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.294000	0.96088	2.793000	0.96121	0.655000	0.94253	GTG		0.522	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1			24	52	0	0	0	1	0	24	52				
OR52I1	390037	broad.mit.edu	37	11	4615567	4615567	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:4615567C>G	ENST00000530443.2	+	1	299	c.299C>G	c.(298-300)gCt>gGt	p.A100G	OR52I1_ENST00000450052.2_Missense_Mutation_p.A124G	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A125V(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCTTTAGTGCTTGTTTCACT	0.527																																						ENST00000450052.2																			1	Substitution - Missense(1)	p.A125V(1)	endometrium(1)	central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15						c.(370-372)gCt>gGt		olfactory receptor, family 52, subfamily I, member 1							136.0	127.0	130.0					11																	4615567		2201	4298	6499	SO:0001583	missense	390037				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4615567C>G	BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268		"""GPCR / Class A : Olfactory receptors"""	15220	protein-coding gene	gene with protein product							Standard	NM_001005169		Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.299C>G	11.37:g.4615567C>G	ENSP00000436453:p.Ala100Gly					OR52I1_ENST00000530443.2_Missense_Mutation_p.A100G	p.A124G			Q8NGK6	O52I1_HUMAN		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	371	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	100					Q6IF91	Missense_Mutation	SNP	ENST00000530443.2	37	c.371C>G	CCDS59223.1	.	.	.	.	.	.	.	.	.	.	C	9.052	0.992367	0.18966	.	.	ENSG00000232268	ENST00000450052;ENST00000530443	T;T	0.01197	5.19;5.19	4.96	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.157917	0.29486	N	0.012019	T	0.01835	0.0058	N	0.20445	0.575	0.33320	D	0.567196	D	0.69078	0.997	D	0.63703	0.917	T	0.59300	-0.7480	9	0.14656	T	0.56	-5.2141	6.9153	0.24357	0.0:0.7288:0.1788:0.0924	.	100	Q8NGK6	O52I1_HUMAN	G	124;100	ENSP00000409094:A124G;ENSP00000436453:A100G	ENSP00000409094:A124G	A	+	2	0	OR52I1	4572143	0.000000	0.05858	0.997000	0.53966	0.292000	0.27327	-0.782000	0.04643	1.420000	0.47138	0.555000	0.69702	GCT		0.527	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2	NM_001005169		45	105	0	0	0	1	0	45	105				
EPHB1	2047	broad.mit.edu	37	3	134851755	134851755	+	Silent	SNP	G	G	A	rs367562212		TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:134851755G>A	ENST00000398015.3	+	5	1531	c.1161G>A	c.(1159-1161)acG>acA	p.T387T	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	387	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.		T -> M (in dbSNP:rs56396912). {ECO:0000269|PubMed:17344846}.		angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.T387T(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGGGCCTGACGGAGTGCCGCG	0.612																																						ENST00000398015.3																			2	Substitution - coding silent(2)	p.T387T(2)	breast(2)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(1159-1161)acG>acA		EPH receptor B1		G		1,4397	2.1+/-5.4	0,1,2198	42.0	48.0	46.0		1161	-11.0	0.2	3		46	0,8590		0,0,4295	no	coding-synonymous	EPHB1	NM_004441.4		0,1,6493	AA,AG,GG		0.0,0.0227,0.0077		387/985	134851755	1,12987	2199	4295	6494	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134851755G>A	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1161G>A	3.37:g.134851755G>A						EPHB1_ENST00000493838.1_5'UTR	p.T387T	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			5	1531	+			387		T -> M (in dbSNP:rs56396912).	Fibronectin type-III 1.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.1161G>A	CCDS46921.1																																																																																				0.612	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		20	42	0	0	0	1	0	20	42				
SNRNP200	23020	broad.mit.edu	37	2	96950195	96950195	+	Silent	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:96950195C>T	ENST00000323853.5	-	31	4370	c.4293G>A	c.(4291-4293)aaG>aaA	p.K1431K	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1431	Helicase ATP-binding 2. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GTATGTCCCACTTCTCAGGGG	0.557																																						ENST00000323853.5																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(4291-4293)aaG>aaA		small nuclear ribonucleoprotein 200kDa (U5)							192.0	147.0	163.0					2																	96950195		2203	4300	6503	SO:0001819	synonymous_variant	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96950195C>T	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.4293G>A	2.37:g.96950195C>T						SNRNP200_ENST00000349783.5_Intron	p.K1431K	NM_014014.4	NP_054733.2	O75643	U520_HUMAN			31	4370	-			1431			Helicase ATP-binding 2.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	ENST00000323853.5	37	c.4293G>A	CCDS2020.1																																																																																				0.557	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		37	98	0	0	0	1	0	37	98				
FDX1L	112812	broad.mit.edu	37	19	10426109	10426109	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr19:10426109C>A	ENST00000393708.3	-	3	278	c.260G>T	c.(259-261)gGg>gTg	p.G87V	FDX1L_ENST00000492239.1_5'UTR|FDX1L_ENST00000494368.1_5'UTR|FDX1L_ENST00000541276.1_Missense_Mutation_p.G90V|CTD-2369P2.10_ENST00000452032.2_Missense_Mutation_p.G87V	NM_001031734.2	NP_001026904.1	Q6P4F2	ADXL_HUMAN	ferredoxin 1-like	87	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)			NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			AACATTGTCCCCGACTCTGCC	0.567																																						ENST00000452032.2																			0											c.(259-261)gGg>gTg									46.0	40.0	42.0					19																	10426109		2203	4300	6503	SO:0001583	missense	112812							g.chr19:10426109C>A	AK097022	CCDS32905.1	19p13.2	2012-10-09			ENSG00000267673	ENSG00000267673			30546	protein-coding gene	gene with protein product		614585				12477932	Standard	NM_001031734		Approved	MGC19604	uc002mny.1	Q6P4F2	OTTHUMG00000141299	ENST00000393708.3:c.260G>T	19.37:g.10426109C>A	ENSP00000377311:p.Gly87Val					FDX1L_ENST00000393708.3_Missense_Mutation_p.G87V|FDX1L_ENST00000541276.1_Missense_Mutation_p.G90V|FDX1L_ENST00000494368.1_5'UTR|FDX1L_ENST00000492239.1_5'UTR	p.G87V							3	272	-								Q8N8B8	Missense_Mutation	SNP	ENST00000393708.3	37	c.260G>T	CCDS32905.1	.	.	.	.	.	.	.	.	.	.	C	33	5.275691	0.95459	.	.	ENSG00000167807	ENST00000541276;ENST00000393708	.	.	.	4.85	4.85	0.62838	Beta-grasp fold, ferredoxin-type (1);Ferredoxin (3);	0.000000	0.85682	D	0.000000	D	0.90858	0.7128	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94572	0.7772	9	0.87932	D	0	-3.5212	15.8145	0.78589	0.0:1.0:0.0:0.0	.	87	Q6P4F2	ADXL_HUMAN	V	90;87	.	ENSP00000377311:G87V	G	-	2	0	FDX1L	10287109	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.735000	0.74806	2.401000	0.81631	0.643000	0.83706	GGG		0.567	FDX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280567.2			18	98	1	0	8.10497e-08	1	9.17376e-08	18	98				
ST6GALNAC3	256435	broad.mit.edu	37	1	77094303	77094303	+	Splice_Site	SNP	A	A	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:77094303A>G	ENST00000328299.3	+	5	879		c.e5-1			NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3						glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						tttcttttctAGGACAGAAGG	0.363																																						ENST00000328299.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						c.e5-1		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3							42.0	43.0	43.0					1																	77094303		2202	4296	6498	SO:0001630	splice_region_variant	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77094303A>G		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.732-1A>G	1.37:g.77094303A>G								NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN			5	879	+								Q6PCE0|Q6UX29|Q8N259	Splice_Site	SNP	ENST00000328299.3	37		CCDS672.1	.	.	.	.	.	.	.	.	.	.	a	16.15	3.041435	0.55003	.	.	ENSG00000184005	ENST00000328299;ENST00000394993;ENST00000415813	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9845	0.80142	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ST6GALNAC3	76866891	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.791000	0.75120	2.229000	0.72834	0.524000	0.50904	.		0.363	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996	Intron	22	30	0	0	0	1	0	22	30				
TEAD4	7004	broad.mit.edu	37	12	3129865	3129865	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr12:3129865C>G	ENST00000397122.2	+	7	547	c.262C>G	c.(262-264)Cgc>Ggc	p.R88G	TEAD4_ENST00000359864.2_Missense_Mutation_p.R217G|TEAD4_ENST00000358409.2_Missense_Mutation_p.R174G	NM_201443.2	NP_958851.1	Q15561	TEAD4_HUMAN	TEA domain family member 4	217					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			ATGGCAGGGCCGCAGCGTGGC	0.657																																						ENST00000359864.2																			0				endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10						c.(649-651)Cgc>Ggc		TEA domain family member 4							57.0	51.0	53.0					12																	3129865		2203	4300	6503	SO:0001583	missense	7004				hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:3129865C>G	X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000397122.2:c.262C>G	12.37:g.3129865C>G	ENSP00000380311:p.Arg88Gly					TEAD4_ENST00000358409.2_Missense_Mutation_p.R174G|TEAD4_ENST00000397122.2_Missense_Mutation_p.R88G	p.R217G	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)		9	839	+	Ovarian(42;0.211)		217					H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Missense_Mutation	SNP	ENST00000397122.2	37	c.649C>G	CCDS41737.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.59|18.59	3.657610|3.657610	0.67586|0.67586	.|.	.|.	ENSG00000197905|ENSG00000197905	ENST00000544666|ENST00000358409;ENST00000359864;ENST00000397122	.|T;T;T	.|0.63580	.|0.11;-0.05;-0.03	5.34|5.34	4.45|4.45	0.53987|0.53987	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81786|0.81786	0.4896|0.4896	M|M	0.90705|0.90705	3.14|3.14	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.85130	.|0.997	D|D	0.85362|0.85362	0.1108|0.1108	5|10	.|0.87932	.|D	.|0	-25.2382|-25.2382	13.003|13.003	0.58687|0.58687	0.0:0.9225:0.0:0.0775|0.0:0.9225:0.0:0.0775	.|.	.|217	.|Q15561	.|TEAD4_HUMAN	R|G	139|174;217;88	.|ENSP00000351184:R174G;ENSP00000352926:R217G;ENSP00000380311:R88G	.|ENSP00000351184:R174G	P|R	+|+	2|1	0|0	TEAD4|TEAD4	3000126|3000126	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.547000|0.547000	0.35210|0.35210	2.521000|2.521000	0.45563|0.45563	1.266000|1.266000	0.44231|0.44231	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.657	TEAD4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398477.1	NM_003213		23	51	0	0	0	1	0	23	51				
CFHR5	81494	broad.mit.edu	37	1	196953185	196953185	+	Silent	SNP	A	A	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:196953185A>T	ENST00000256785.4	+	3	457	c.348A>T	c.(346-348)acA>acT	p.T116T	CFHR5_ENST00000367414.5_Silent_p.T140T			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	116	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TTTGCAACACAGGATACAGCC	0.403																																						ENST00000367414.5																			0				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						c.(418-420)acA>acT		complement factor H-related 5							116.0	101.0	106.0					1																	196953185		2203	4300	6503	SO:0001819	synonymous_variant	81494				complement activation, alternative pathway	extracellular region		g.chr1:196953185A>T	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.348A>T	1.37:g.196953185A>T						CFHR5_ENST00000256785.4_Silent_p.T116T	p.T140T	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN			3	476	+			116			Sushi 2.		Q2NKK2	Silent	SNP	ENST00000256785.4	37	c.420A>T	CCDS1387.1																																																																																				0.403	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		33	55	0	0	0	1	0	33	55				
NYAP2	57624	broad.mit.edu	37	2	226447479	226447479	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:226447479T>G	ENST00000272907.6	+	4	1759	c.1346T>G	c.(1345-1347)cTg>cGg	p.L449R	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	449	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CTGACTCCCCTGAGCCTCAAA	0.627																																						ENST00000272907.6																			0											c.(1345-1347)cTg>cGg		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							41.0	45.0	44.0					2																	226447479		2024	4193	6217	SO:0001583	missense	57624							g.chr2:226447479T>G	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1346T>G	2.37:g.226447479T>G	ENSP00000272907:p.Leu449Arg					NYAP2_ENST00000409269.2_Intron	p.L449R	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN			4	1759	+			449			Pro-rich.		A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.1346T>G	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	T	18.01	3.526730	0.64860	.	.	ENSG00000144460	ENST00000272907	T	0.33865	1.39	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000003	T	0.53142	0.1778	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52525	-0.8564	10	0.48119	T	0.1	-12.8615	15.069	0.72021	0.0:0.0:0.0:1.0	.	449	Q9P242	K1486_HUMAN	R	449	ENSP00000272907:L449R	ENSP00000272907:L449R	L	+	2	0	KIAA1486	226155723	1.000000	0.71417	0.931000	0.37212	0.992000	0.81027	7.698000	0.84413	1.957000	0.56846	0.460000	0.39030	CTG		0.627	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		10	43	0	0	0	1	0	10	43				
RHEB	6009	broad.mit.edu	37	7	151167697	151167697	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr7:151167697C>T	ENST00000262187.5	-	7	834	c.422G>A	c.(421-423)tGg>tAg	p.W141*	RHEB_ENST00000496004.1_Nonsense_Mutation_p.W36*|RHEB_ENST00000472642.1_Nonsense_Mutation_p.W36*	NM_005614.3	NP_005605.1	Q15382	RHEB_HUMAN	Ras homolog enriched in brain	141					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|positive regulation of TOR signaling (GO:0032008)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		AGCTGCATTCCAAGATTCTGC	0.343																																					Pancreas(98;671 892 8111 15140 36556 39178 39939 44184)	ENST00000262187.5																			0				breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14						c.(421-423)tGg>tAg		Ras homolog enriched in brain							75.0	76.0	76.0					7																	151167697		2201	4297	6498	SO:0001587	stop_gained	6009				cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|metal ion binding|protein binding	g.chr7:151167697C>T	D78132	CCDS5927.1	7q36	2014-05-09	2003-07-14	2003-07-14	ENSG00000106615	ENSG00000106615			10011	protein-coding gene	gene with protein product		601293	"""Ras homolog enriched in brain 2"""	RHEB2		8661031	Standard	NM_005614		Approved		uc003wkh.1	Q15382	OTTHUMG00000157330	ENST00000262187.5:c.422G>A	7.37:g.151167697C>T	ENSP00000262187:p.Trp141*					RHEB_ENST00000496004.1_Nonsense_Mutation_p.W36*|RHEB_ENST00000472642.1_Nonsense_Mutation_p.W36*	p.W141*	NM_005614.3	NP_005605.1	Q15382	RHEB_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)	7	834	-			141					B3KWN6|D3DX13|Q53Y56|Q99444	Nonsense_Mutation	SNP	ENST00000262187.5	37	c.422G>A	CCDS5927.1	.	.	.	.	.	.	.	.	.	.	C	39	7.797295	0.98495	.	.	ENSG00000106615	ENST00000262187;ENST00000472642;ENST00000496004	.	.	.	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.4241	0.87522	0.0:1.0:0.0:0.0	.	.	.	.	X	141;36;36	.	ENSP00000262187:W141X	W	-	2	0	RHEB	150798630	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.619000	0.83057	2.429000	0.82318	0.591000	0.81541	TGG		0.343	RHEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348468.2	NM_005614		18	42	0	0	0	1	0	18	42				
NUP214	8021	broad.mit.edu	37	9	134016058	134016058	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:134016058C>T	ENST00000359428.5	+	11	1399	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*	RP11-544A12.4_ENST00000587408.1_RNA|NUP214_ENST00000451030.1_Nonsense_Mutation_p.R419*|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|NUP214_ENST00000411637.2_Nonsense_Mutation_p.R419*			P35658	NU214_HUMAN	nucleoporin 214kDa	419					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AACACCAGAGCGACTTTCATT	0.433			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"""DEK, SET, ABL1"""		"""AML, T-ALL"""		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(1255-1257)Cga>Tga		nucleoporin 214kDa							113.0	110.0	111.0					9																	134016058		2203	4300	6503	SO:0001587	stop_gained	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134016058C>T	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.1255C>T	9.37:g.134016058C>T	ENSP00000352400:p.Arg419*					NUP214_ENST00000451030.1_Nonsense_Mutation_p.R419*|NUP214_ENST00000411637.2_Nonsense_Mutation_p.R419*|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA	p.R419*			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	11	1399	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	419					A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Nonsense_Mutation	SNP	ENST00000359428.5	37	c.1255C>T	CCDS6940.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.3|27.3	4.823364|4.823364	0.90873|0.90873	.|.	.|.	ENSG00000126883|ENSG00000126883	ENST00000530863|ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375	.|.	.|.	.|.	5.91|5.91	4.99|4.99	0.66335|0.66335	.|.	.|0.896444	.|0.09179	.|N	.|0.837770	T|.	0.46073|.	0.1374|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.40496|.	-0.9560|.	3|.	.|0.10377	.|T	.|0.69	-30.1883|-30.1883	15.0046|15.0046	0.71501|0.71501	0.154:0.846:0.0:0.0|0.154:0.846:0.0:0.0	.|.	.|.	.|.	.|.	V|X	90|419	.|.	.|ENSP00000352400:R419X	A|R	+|+	2|1	0|2	NUP214|NUP214	133005879|133005879	0.005000|0.005000	0.15991|0.15991	0.832000|0.832000	0.32986|0.32986	0.059000|0.059000	0.15707|0.15707	0.402000|0.402000	0.20965|0.20965	1.445000|1.445000	0.47624|0.47624	0.655000|0.655000	0.94253|0.94253	GCG|CGA		0.433	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		4	96	0	0	0	1	0	4	96				
SLC35C2	51006	broad.mit.edu	37	20	44979515	44979515	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr20:44979515C>A	ENST00000372227.1	-	9	1392	c.852G>T	c.(850-852)ttG>ttT	p.L284F	SLC35C2_ENST00000372229.1_Missense_Mutation_p.L151F|SLC35C2_ENST00000543605.1_Missense_Mutation_p.L313F|SLC35C2_ENST00000372230.5_Missense_Mutation_p.L284F|SLC35C2_ENST00000493599.1_5'UTR|SLC35C2_ENST00000243896.2_Missense_Mutation_p.L284F|SLC35C2_ENST00000317734.8_Missense_Mutation_p.L263F	NM_001281458.1|NM_001281460.1	NP_001268387.1|NP_001268389.1	Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	284					negative regulation of gene expression (GO:0010629)|positive regulation of Notch signaling pathway (GO:0045747)|protein O-linked fucosylation (GO:0036066)|transport (GO:0006810)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				CTGCCAACAGCAAAGTGCAGA	0.587																																						ENST00000372227.1																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16						c.(850-852)ttG>ttT		solute carrier family 35 (GDP-fucose transporter), member C2							56.0	55.0	56.0					20																	44979515		2203	4300	6503	SO:0001583	missense	51006				transport	integral to membrane		g.chr20:44979515C>A		CCDS13396.1, CCDS13397.1, CCDS63292.1	20q13.12	2013-07-17	2013-07-17	2003-10-10	ENSG00000080189	ENSG00000080189		"""Solute carriers"""	17117	protein-coding gene	gene with protein product			"""ovarian cancer overexpressed 1"", ""solute carrier family 35, member C2"""	C20orf5, OVCOV1		10810093, 11549316	Standard	NM_173179		Approved	CGI-15, bA394O2.1	uc002xrq.3	Q9NQQ7	OTTHUMG00000033050	ENST00000372227.1:c.852G>T	20.37:g.44979515C>A	ENSP00000361301:p.Leu284Phe					SLC35C2_ENST00000372229.1_Missense_Mutation_p.L151F|SLC35C2_ENST00000243896.2_Missense_Mutation_p.L284F|SLC35C2_ENST00000543605.1_Missense_Mutation_p.L313F|SLC35C2_ENST00000493599.1_5'UTR|SLC35C2_ENST00000317734.8_Missense_Mutation_p.L263F|SLC35C2_ENST00000372230.5_Missense_Mutation_p.L284F	p.L284F			Q9NQQ7	S35C2_HUMAN			9	1392	-		Myeloproliferative disorder(115;0.0122)	284					B7Z6V6|E1P5T0|Q53GK3|Q5JW05|Q96CJ8|Q9Y304	Missense_Mutation	SNP	ENST00000372227.1	37	c.852G>T	CCDS13396.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521489	0.64747	.	.	ENSG00000080189	ENST00000317734;ENST00000243896;ENST00000372227;ENST00000372229;ENST00000372230;ENST00000372225;ENST00000543605	T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	4.79	2.86	0.33363	Domain of unknown function DUF250 (1);	0.000000	0.64402	D	0.000007	T	0.72566	0.3476	M	0.73962	2.25	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.989;0.994;0.994;0.999	T	0.70695	-0.4801	10	0.72032	D	0.01	-10.5235	3.5188	0.07735	0.1766:0.5408:0.0:0.2826	.	313;149;263;284	F5H4T9;B7Z6R4;Q9NQQ7-2;Q9NQQ7	.;.;.;S35C2_HUMAN	F	263;284;284;151;284;152;313	ENSP00000318960:L263F;ENSP00000243896:L284F;ENSP00000361301:L284F;ENSP00000361303:L151F;ENSP00000361304:L284F;ENSP00000439974:L313F	ENSP00000243896:L284F	L	-	3	2	SLC35C2	44412922	1.000000	0.71417	0.990000	0.47175	0.998000	0.95712	1.168000	0.31859	0.626000	0.30322	0.655000	0.94253	TTG		0.587	SLC35C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080363.1	NM_015945		21	51	1	0	0.000295444	1	0.000307381	21	51				
ANKHD1	54882	broad.mit.edu	37	5	139876563	139876563	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:139876563A>T	ENST00000360839.2	+	15	2858	c.2704A>T	c.(2704-2706)Atc>Ttc	p.I902F	ANKHD1_ENST00000462121.1_3'UTR|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.I902F|ANKHD1_ENST00000297183.6_Missense_Mutation_p.I902F	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	902						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTGACACAATCTTATTTAA	0.448																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(2704-2706)Atc>Ttc		ankyrin repeat and KH domain containing 1							105.0	104.0	104.0					5																	139876563		2203	4300	6503	SO:0001583	missense	54882							g.chr5:139876563A>T	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.2704A>T	5.37:g.139876563A>T	ENSP00000354085:p.Ile902Phe					ANKHD1_ENST00000462121.1_3'UTR|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.I902F|ANKHD1_ENST00000360839.2_Missense_Mutation_p.I902F	p.I902F	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		15	2828	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.2704A>T	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	A	12.45	1.942773	0.34283	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000421134;ENST00000532219	T;T;T;T	0.68903	-0.32;-0.36;-0.22;-0.36	5.46	-3.26	0.05064	Ankyrin repeat-containing domain (1);	0.177328	0.48286	D	0.000193	T	0.51770	0.1694	L	0.42245	1.32	0.45962	D	0.998781	B;B;B	0.22909	0.018;0.077;0.077	B;B;B	0.25884	0.064;0.034;0.034	T	0.30090	-0.9990	10	0.59425	D	0.04	.	8.6629	0.34103	0.4432:0.1127:0.4442:0.0	.	902;902;902	Q8IWZ3-4;Q8IWZ2;Q8IWZ3	.;.;ANKH1_HUMAN	F	902;935;902;902;436;921;902	ENSP00000354085:I902F;ENSP00000297183:I902F;ENSP00000394489:I921F;ENSP00000432016:I902F	ENSP00000432016:I902F	I	+	1	0	ANKHD1-EIF4EBP3;ANKHD1	139856747	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	1.958000	0.40402	-0.370000	0.08016	-0.361000	0.07541	ATC		0.448	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		38	93	0	0	0	1	0	38	93				
DBH	1621	broad.mit.edu	37	9	136501760	136501760	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:136501760G>A	ENST00000393056.2	+	1	279	c.267G>A	c.(265-267)atG>atA	p.M89I		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	89	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.				behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	TGTTTGGGATGTCCGACCGTG	0.607																																						ENST00000393056.2																			0				central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(265-267)atG>atA		dopamine beta-hydroxylase (dopamine beta-monooxygenase)	Dopamine(DB00988)|Vitamin C(DB00126)						88.0	64.0	72.0					9																	136501760		2203	4300	6503	SO:0001583	missense	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136501760G>A	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.267G>A	9.37:g.136501760G>A	ENSP00000376776:p.Met89Ile						p.M89I	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	1	279	+			89			DOMON.		Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	c.267G>A	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123706	0.56613	.	.	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.75367	-0.93;-0.93	5.24	4.34	0.51931	DOMON domain (3);	0.000000	0.85682	D	0.000000	T	0.80576	0.4649	L	0.54323	1.7	0.58432	D	0.999992	D	0.56521	0.976	P	0.60012	0.867	T	0.82014	-0.0667	10	0.59425	D	0.04	-10.4262	14.2065	0.65737	0.0738:0.0:0.9262:0.0	.	89	P09172	DOPO_HUMAN	I	89;75;75	ENSP00000376776:M89I;ENSP00000263611:M75I	ENSP00000263611:M75I	M	+	3	0	DBH	135491581	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	6.153000	0.71819	2.448000	0.82819	0.561000	0.74099	ATG		0.607	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		18	45	0	0	0	1	0	18	45				
ORAI1	84876	broad.mit.edu	37	12	122079195	122079195	+	Silent	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr12:122079195G>T	ENST00000330079.7	+	2	751	c.558G>T	c.(556-558)acG>acT	p.T186T		NM_032790.3	NP_116179	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	184					blood coagulation (GO:0007596)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|regulation of calcium ion transport (GO:0051924)|store-operated calcium entry (GO:0002115)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|store-operated calcium channel activity (GO:0015279)	p.T186T(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		TCATCGGCACGCTGCTCTTCC	0.632																																						ENST00000330079.7																			1	Substitution - coding silent(1)	p.T186T(1)	lung(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11						c.(556-558)acG>acT		ORAI calcium release-activated calcium modulator 1							67.0	70.0	69.0					12																	122079195		2203	4300	6503	SO:0001819	synonymous_variant	84876				platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr12:122079195G>T	AK027372		12q24.31	2014-09-17	2007-08-14	2007-08-14	ENSG00000182500	ENSG00000276045		"""ORAI calcium release-activated calcium modulators"""	25896	protein-coding gene	gene with protein product	"""calcium release-activated calcium modulator 1"""	610277	"""transmembrane protein 142A"""	TMEM142A		16582901	Standard	NM_032790		Approved	FLJ14466, CRACM1	uc021rff.1	Q96D31		ENST00000330079.7:c.558G>T	12.37:g.122079195G>T							p.T186T	NM_032790.3	NP_116179.2	Q96D31	CRCM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)	2	751	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		184					Q3MHV3|Q6DHX2|Q96BP7|Q96K71	Silent	SNP	ENST00000330079.7	37	c.558G>T	CCDS41851.1																																																																																				0.632	ORAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402151.1	NM_032790		21	31	1	0	6.44725e-10	1	7.51774e-10	21	31				
SLC24A2	25769	broad.mit.edu	37	9	19786496	19786496	+	Silent	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:19786496G>A	ENST00000341998.2	-	1	430	c.369C>T	c.(367-369)gaC>gaT	p.D123D	SLC24A2_ENST00000286344.3_Silent_p.D123D	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	123					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GGGAAAAGATGTCTTTCGGGT	0.433																																						ENST00000341998.2																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(367-369)gaC>gaT		solute carrier family 24 (sodium/potassium/calcium exchanger), member 2							107.0	107.0	107.0					9																	19786496		2203	4300	6503	SO:0001819	synonymous_variant	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19786496G>A	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.369C>T	9.37:g.19786496G>A						SLC24A2_ENST00000286344.3_Silent_p.D123D	p.D123D	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	1	430	-			123					B7ZLL8|Q9NTN5|Q9NZQ4	Silent	SNP	ENST00000341998.2	37	c.369C>T	CCDS6493.1																																																																																				0.433	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		24	42	0	0	0	1	0	24	42				
MYH6	4624	broad.mit.edu	37	14	23872602	23872602	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr14:23872602G>T	ENST00000356287.3	-	9	882	c.853C>A	c.(853-855)Cac>Aac	p.H285N	MYH6_ENST00000405093.3_Missense_Mutation_p.H285N			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	285	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TAGAAGATGTGGTAGTTTCTC	0.577																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(853-855)Cac>Aac		myosin, heavy chain 6, cardiac muscle, alpha							147.0	152.0	150.0					14																	23872602		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23872602G>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.853C>A	14.37:g.23872602G>T	ENSP00000348634:p.His285Asn					MYH6_ENST00000356287.3_Missense_Mutation_p.H285N	p.H285N	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	10	923	-	all_cancers(95;2.54e-05)		285			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.853C>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	15.06	2.719938	0.48728	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.92099	-2.97;-2.97	3.87	3.87	0.44632	Myosin head, motor domain (2);	.	.	.	.	D	0.98261	0.9424	H	0.99859	4.855	0.58432	D	0.999997	P;P	0.35481	0.504;0.504	P;P	0.60682	0.878;0.878	D	0.98813	1.0744	9	0.87932	D	0	.	15.7825	0.78272	0.0:0.0:1.0:0.0	.	285;285	D9YZU2;P13533	.;MYH6_HUMAN	N	285	ENSP00000386041:H285N;ENSP00000348634:H285N	ENSP00000348634:H285N	H	-	1	0	MYH6	22942442	1.000000	0.71417	1.000000	0.80357	0.005000	0.04900	9.358000	0.97109	1.880000	0.54463	0.561000	0.74099	CAC		0.577	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			93	221	1	0	2.0191e-50	1	2.94293e-50	93	221				
SEMA3E	9723	broad.mit.edu	37	7	83014746	83014746	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr7:83014746T>C	ENST00000307792.3	-	16	2206	c.1739A>G	c.(1738-1740)gAt>gGt	p.D580G	SEMA3E_ENST00000427262.1_Missense_Mutation_p.D520G	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	580					axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				ATCCAAAGCATCCCCTACAAC	0.363																																						ENST00000307792.3																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51						c.(1738-1740)gAt>gGt		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E							174.0	153.0	160.0					7																	83014746		2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83014746T>C	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1739A>G	7.37:g.83014746T>C	ENSP00000303212:p.Asp580Gly					SEMA3E_ENST00000427262.1_Missense_Mutation_p.D520G	p.D580G	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN			16	2206	-		Medulloblastoma(109;0.109)	580					B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.1739A>G	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	T	17.30	3.355257	0.61293	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.30981	1.56;1.51	5.54	5.54	0.83059	.	0.101356	0.64402	D	0.000003	T	0.30230	0.0758	L	0.43152	1.355	0.58432	D	0.999991	B	0.24092	0.097	B	0.29524	0.103	T	0.04961	-1.0915	10	0.28530	T	0.3	.	15.676	0.77321	0.0:0.0:0.0:1.0	.	580	O15041	SEM3E_HUMAN	G	580;520;580	ENSP00000303212:D580G;ENSP00000405052:D520G	ENSP00000303212:D580G	D	-	2	0	SEMA3E	82852682	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.178000	0.65037	2.098000	0.63641	0.528000	0.53228	GAT		0.363	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		62	99	0	0	0	1	0	62	99				
DHX36	170506	broad.mit.edu	37	3	154027464	154027464	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:154027464G>T	ENST00000496811.1	-	5	871	c.791C>A	c.(790-792)cCa>cAa	p.P264Q	DHX36_ENST00000544526.1_Missense_Mutation_p.P264Q|DHX36_ENST00000329463.5_Missense_Mutation_p.P264Q|DHX36_ENST00000308361.6_Missense_Mutation_p.P264Q	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	264	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AATTCTTCTTGGCTGAGTACA	0.348																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(790-792)cCa>cAa		DEAH (Asp-Glu-Ala-His) box polypeptide 36							84.0	83.0	84.0					3																	154027464		2201	4300	6501	SO:0001583	missense	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154027464G>T	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.791C>A	3.37:g.154027464G>T	ENSP00000417078:p.Pro264Gln					DHX36_ENST00000544526.1_Missense_Mutation_p.P264Q|DHX36_ENST00000308361.6_Missense_Mutation_p.P264Q|DHX36_ENST00000329463.5_Missense_Mutation_p.P264Q	p.P264Q	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		5	871	-			264			Helicase ATP-binding.		B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	c.791C>A	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795013	0.90453	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5	5.15	5.15	0.70609	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85452	0.5700	H	0.99555	4.625	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92297	0.5846	10	0.87932	D	0	.	18.6205	0.91319	0.0:0.0:1.0:0.0	.	264;264;264	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	Q	264;264;264;264;178	ENSP00000417078:P264Q;ENSP00000309296:P264Q;ENSP00000444247:P264Q;ENSP00000330113:P264Q;ENSP00000419862:P178Q	ENSP00000309296:P264Q	P	-	2	0	DHX36	155510158	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	9.409000	0.97331	2.391000	0.81399	0.650000	0.86243	CCA		0.348	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		21	78	1	0	1.85244e-09	1	2.14384e-09	21	78				
MFN1	55669	broad.mit.edu	37	3	179082100	179082100	+	Silent	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:179082100C>T	ENST00000471841.1	+	6	678	c.552C>T	c.(550-552)gtC>gtT	p.V184V	MFN1_ENST00000280653.7_Silent_p.V184V|MFN1_ENST00000263969.5_Silent_p.V184V	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	184	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GCACAGATGTCACTACAGAGC	0.323																																						ENST00000471841.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31						c.(550-552)gtC>gtT		mitofusin 1							128.0	118.0	122.0					3																	179082100		2203	4300	6503	SO:0001819	synonymous_variant	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179082100C>T	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.552C>T	3.37:g.179082100C>T						MFN1_ENST00000280653.7_Silent_p.V184V|MFN1_ENST00000263969.5_Silent_p.V184V	p.V184V	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		6	678	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		184					B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Silent	SNP	ENST00000471841.1	37	c.552C>T	CCDS3228.1																																																																																				0.323	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		29	46	0	0	0	1	0	29	46				
ABCA8	10351	broad.mit.edu	37	17	66899501	66899501	+	Missense_Mutation	SNP	G	G	C	rs75339580	byFrequency	TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:66899501G>C	ENST00000269080.2	-	18	2555	c.2418C>G	c.(2416-2418)tgC>tgG	p.C806W	ABCA8_ENST00000586539.1_Missense_Mutation_p.C846W|ABCA8_ENST00000430352.2_Missense_Mutation_p.C846W	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	806					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTGCAATTGCGCAGATTTGCT	0.408																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(2416-2418)tgC>tgG		ATP-binding cassette, sub-family A (ABC1), member 8							143.0	133.0	137.0					17																	66899501		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66899501G>C	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.2418C>G	17.37:g.66899501G>C	ENSP00000269080:p.Cys806Trp					ABCA8_ENST00000430352.2_Missense_Mutation_p.C846W|ABCA8_ENST00000586539.1_Missense_Mutation_p.C846W	p.C806W	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			18	2555	-	Breast(10;4.56e-13)		806					A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.2418C>G	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	G	3.101	-0.184864	0.06340	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	T;T	0.78246	-1.16;-1.16	4.9	-6.31	0.02001	.	0.322414	0.25968	N	0.027143	T	0.66548	0.2800	L	0.58810	1.83	0.18873	N	0.999987	B;B;B;B;B	0.27450	0.179;0.112;0.053;0.044;0.112	B;B;B;B;B	0.33799	0.17;0.057;0.055;0.057;0.055	T	0.57539	-0.7794	10	0.37606	T	0.19	.	6.8801	0.24168	0.51:0.2869:0.2031:0.0	.	785;846;846;846;806	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	W	806;846;785	ENSP00000269080:C806W;ENSP00000402814:C846W	ENSP00000269080:C806W	C	-	3	2	ABCA8	64411096	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.585000	0.05794	-0.691000	0.05135	-0.290000	0.09829	TGC		0.408	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		45	146	0	0	0	1	0	45	146				
TLE1	7088	broad.mit.edu	37	9	84267137	84267137	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:84267137T>C	ENST00000376499.3	-	6	1428	c.364A>G	c.(364-366)Atc>Gtc	p.I122V	TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000376463.1_Missense_Mutation_p.I66V	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	122	Gln-rich.				multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						ACCCCGATGATGGCATTCAAT	0.463																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	ENST00000376499.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						c.(364-366)Atc>Gtc		transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)							240.0	201.0	214.0					9																	84267137		2203	4300	6503	SO:0001583	missense	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84267137T>C		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.364A>G	9.37:g.84267137T>C	ENSP00000365682:p.Ile122Val					TLE1_ENST00000376463.1_Missense_Mutation_p.I66V|TLE1_ENST00000376472.1_5'UTR	p.I122V	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN			6	1428	-			122			Gln-rich.		A8K495|Q5T3G4|Q969V9	Missense_Mutation	SNP	ENST00000376499.3	37	c.364A>G	CCDS6661.1	.	.	.	.	.	.	.	.	.	.	T	15.06	2.721613	0.48728	.	.	ENSG00000196781	ENST00000376499;ENST00000355002;ENST00000418319;ENST00000376463	T;T;T	0.54866	0.55;1.23;0.79	5.73	5.73	0.89815	Groucho/TLE, N-terminal Q-rich domain (1);	0.056198	0.64402	D	0.000001	T	0.50463	0.1617	L	0.43701	1.375	0.80722	D	1	B;B;B;B;B;B	0.32526	0.001;0.0;0.374;0.001;0.018;0.0	B;B;B;B;B;B	0.37091	0.002;0.012;0.241;0.012;0.028;0.012	T	0.49523	-0.8931	10	0.42905	T	0.14	-20.7231	16.0209	0.80493	0.0:0.0:0.0:1.0	.	122;122;122;149;122;122	B4E345;B4DEF9;A6NFH2;Q59EF7;Q5T3G3;Q04724	.;.;.;.;.;TLE1_HUMAN	V	122;122;122;66	ENSP00000365682:I122V;ENSP00000391347:I122V;ENSP00000365646:I66V	ENSP00000347102:I122V	I	-	1	0	TLE1	83456957	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.042000	0.64202	2.186000	0.69663	0.459000	0.35465	ATC		0.463	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		69	164	0	0	0	1	0	69	164				
PUM2	23369	broad.mit.edu	37	2	20451388	20451388	+	Silent	SNP	C	C	A	rs191721728	byFrequency	TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:20451388C>A	ENST00000361078.2	-	20	3181	c.3159G>T	c.(3157-3159)ccG>ccT	p.P1053P	PUM2_ENST00000536417.1_Silent_p.P995P|PUM2_ENST00000338086.5_Silent_p.P1051P|PUM2_ENST00000319801.5_Silent_p.P974P|PUM2_ENST00000403432.1_Silent_p.P1051P			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	1053					regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCTAGGTCCGGGCTATTCT	0.378																																						ENST00000361078.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42						c.(3157-3159)ccG>ccT		pumilio RNA-binding family member 2							169.0	171.0	170.0					2																	20451388		2203	4300	6503	SO:0001819	synonymous_variant	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20451388C>A	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.3159G>T	2.37:g.20451388C>A						PUM2_ENST00000319801.5_Silent_p.P974P|PUM2_ENST00000403432.1_Silent_p.P1051P|PUM2_ENST00000536417.1_Silent_p.P995P|PUM2_ENST00000338086.5_Silent_p.P1051P	p.P1053P			Q8TB72	PUM2_HUMAN			20	3181	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1053					B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Silent	SNP	ENST00000361078.2	37	c.3159G>T																																																																																					0.378	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		37	110	1	0	2.20474e-14	1	2.68214e-14	37	110				
H2AFZ	3015	broad.mit.edu	37	4	100870880	100870880	+	Silent	SNP	T	T	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr4:100870880T>A	ENST00000296417.5	-	2	238	c.21A>T	c.(19-21)ggA>ggT	p.G7G	RP11-15B17.1_ENST00000514624.1_RNA|RP11-15B17.1_ENST00000501976.2_RNA|H2AFZ_ENST00000529158.1_5'UTR|RP11-15B17.1_ENST00000507494.1_RNA|DNAJB14_ENST00000442697.2_5'Flank	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	7	Required for interaction with INCENP. {ECO:0000250}.				cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular vesicular exosome (GO:0070062)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		CGGAGTCCTTTCCAGCCTTAC	0.622																																						ENST00000296417.5																			0				breast(1)|endometrium(3)|lung(1)	5						c.(19-21)ggA>ggT		H2A histone family, member Z							65.0	73.0	70.0					4																	100870880		2203	4300	6503	SO:0001819	synonymous_variant	3015				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr4:100870880T>A	X52317	CCDS3654.1	4q23	2011-01-27			ENSG00000164032	ENSG00000164032		"""Histones / Replication-independent"""	4741	protein-coding gene	gene with protein product		142763		H2AZ		1697587	Standard	XM_005262971		Approved	H2A.Z	uc003hvo.1	P0C0S5	OTTHUMG00000131048	ENST00000296417.5:c.21A>T	4.37:g.100870880T>A						H2AFZ_ENST00000529158.1_5'UTR	p.G7G	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)	2	238	-			7			Required for interaction with INCENP (By similarity).		B2RD56|P17317|Q6I9U0	Silent	SNP	ENST00000296417.5	37	c.21A>T	CCDS3654.1																																																																																				0.622	H2AFZ-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000253695.1	NM_002106		44	97	0	0	0	1	0	44	97				
C1orf105	92346	broad.mit.edu	37	1	172414217	172414217	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:172414217C>T	ENST00000367727.4	+	2	224	c.26C>T	c.(25-27)tCt>tTt	p.S9F	PIGC_ENST00000484368.1_5'Flank|PIGC_ENST00000367728.1_5'Flank|PIGC_ENST00000344529.4_5'Flank|PIGC_ENST00000258324.1_5'Flank	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	9										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						CTCTAGGCTTCTGTTCCAAAA	0.423																																						ENST00000367727.4																			0				large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						c.(25-27)tCt>tTt		chromosome 1 open reading frame 105							99.0	96.0	97.0					1																	172414217		2203	4300	6503	SO:0001583	missense	92346							g.chr1:172414217C>T	AL035295	CCDS1301.1, CCDS72983.1	1q24.3	2012-06-26			ENSG00000180999	ENSG00000180999			29591	protein-coding gene	gene with protein product						12477932	Standard	NM_139240		Approved		uc001gik.3	O95561	OTTHUMG00000034750	ENST00000367727.4:c.26C>T	1.37:g.172414217C>T	ENSP00000356700:p.Ser9Phe						p.S9F	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN			2	224	+			9					Q8IY02	Missense_Mutation	SNP	ENST00000367727.4	37	c.26C>T	CCDS1301.1	.	.	.	.	.	.	.	.	.	.	C	1.034	-0.681058	0.03353	.	.	ENSG00000180999	ENST00000367727	T	0.30981	1.51	4.06	2.13	0.27403	.	0.477414	0.17976	N	0.155718	T	0.04272	0.0118	N	0.11560	0.145	0.80722	D	1	B	0.20261	0.043	B	0.21546	0.035	T	0.28202	-1.0051	10	0.09590	T	0.72	-2.4196	5.002	0.14269	0.0:0.6633:0.2178:0.1189	.	9	O95561	CA105_HUMAN	F	9	ENSP00000356700:S9F	ENSP00000356700:S9F	S	+	2	0	C1orf105	170680840	0.994000	0.37717	0.949000	0.38748	0.387000	0.30353	1.551000	0.36233	0.629000	0.30376	-0.175000	0.13238	TCT		0.423	C1orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084062.2	NM_139240		12	28	0	0	0	1	0	12	28				
SERPINA4	5267	broad.mit.edu	37	14	95034604	95034604	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr14:95034604G>T	ENST00000557004.1	+	4	1483	c.1062G>T	c.(1060-1062)caG>caT	p.Q354H	SERPINA4_ENST00000298841.5_Missense_Mutation_p.Q354H|SERPINA4_ENST00000555095.1_Missense_Mutation_p.Q354H|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	354					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TCACCAAACAGCAAAAACTGG	0.532																																						ENST00000557004.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46						c.(1060-1062)caG>caT		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4							70.0	68.0	69.0					14																	95034604		2203	4300	6503	SO:0001583	missense	5267				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr14:95034604G>T	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.1062G>T	14.37:g.95034604G>T	ENSP00000450838:p.Gln354His					SERPINA4_ENST00000555095.1_Missense_Mutation_p.Q354H|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.Q354H	p.Q354H			P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	4	1483	+			354					Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	ENST00000557004.1	37	c.1062G>T	CCDS9927.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.618483	0.46736	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.82711	-1.64;-1.64;-1.64	5.3	-3.76	0.04359	Serpin domain (3);	1.294320	0.06109	U	0.666742	T	0.65144	0.2663	N	0.13140	0.3	0.09310	N	1	B;B	0.27140	0.169;0.058	B;B	0.30572	0.081;0.117	T	0.53788	-0.8389	10	0.33940	T	0.23	.	2.4215	0.04449	0.1158:0.2806:0.2305:0.373	.	354;354	B2R815;P29622	.;KAIN_HUMAN	H	354	ENSP00000450838:Q354H;ENSP00000451172:Q354H;ENSP00000298841:Q354H	ENSP00000298841:Q354H	Q	+	3	2	SERPINA4	94104357	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.927000	0.01561	-0.076000	0.12775	0.655000	0.94253	CAG		0.532	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		27	62	1	0	2.41591e-17	1	3.13662e-17	27	62				
FLG	2312	broad.mit.edu	37	1	152276039	152276039	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:152276039C>T	ENST00000368799.1	-	3	11358	c.11323G>A	c.(11323-11325)Gag>Aag	p.E3775K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3775	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)	p.E3775*(1)		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)			ACCGATTGCTCGTGGTAGGAT	0.597									Ichthyosis																													ENST00000368799.1																			1	Substitution - Nonsense(1)	p.E3775*(1)	lung(1)	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.(11323-11325)Gag>Aag		filaggrin							378.0	365.0	369.0					1																	152276039		2203	4300	6503	SO:0001583	missense	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.chr1:152276039C>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.11323G>A	1.37:g.152276039C>T	ENSP00000357789:p.Glu3775Lys					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.E3775K	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11358	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3775			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.11323G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.873285	0.33069	.	.	ENSG00000143631	ENST00000368799	T	0.01685	4.69	2.69	-0.739	0.11120	.	.	.	.	.	T	0.02688	0.0081	M	0.79805	2.47	0.09310	N	1	D	0.69078	0.997	D	0.68039	0.955	T	0.34378	-0.9831	9	0.42905	T	0.14	-1.534	4.9685	0.14103	0.0:0.4467:0.419:0.1343	.	3775	P20930	FILA_HUMAN	K	3775	ENSP00000357789:E3775K	ENSP00000357789:E3775K	E	-	1	0	FLG	150542663	0.000000	0.05858	0.009000	0.14445	0.014000	0.08584	-2.575000	0.00910	-0.131000	0.11578	0.552000	0.68991	GAG		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		6	754	0	0	0	1	0	6	754				
IGDCC3	9543	broad.mit.edu	37	15	65623395	65623395	+	Silent	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr15:65623395C>A	ENST00000327987.4	-	9	1805	c.1554G>T	c.(1552-1554)ctG>ctT	p.L518L	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	518	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CACCTTCACCCAGGGTGCTAG	0.587																																						ENST00000327987.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1552-1554)ctG>ctT		immunoglobulin superfamily, DCC subclass, member 3							71.0	69.0	70.0					15																	65623395		2201	4299	6500	SO:0001819	synonymous_variant	9543							g.chr15:65623395C>A	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1554G>T	15.37:g.65623395C>A							p.L518L	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN			9	1805	-			518					O95215	Silent	SNP	ENST00000327987.4	37	c.1554G>T	CCDS10205.1																																																																																				0.587	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		10	81	1	0	2.17888e-05	1	2.32163e-05	10	81				
OR8U1	219417	broad.mit.edu	37	11	56143644	56143644	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:56143644T>C	ENST00000302270.1	+	1	545	c.545T>C	c.(544-546)aTg>aCg	p.M182T		NM_001005204.1	NP_001005204.1	Q8NH10	OR8U1_HUMAN	olfactory receptor, family 8, subfamily U, member 1	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					TGTGATGACATGCCTCTCCTC	0.453																																						ENST00000302270.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39						c.(544-546)aTg>aCg		olfactory receptor, family 8, subfamily U, member 1							248.0	242.0	244.0					11																	56143644		2128	4237	6365	SO:0001583	missense	219417							g.chr11:56143644T>C	AB065603	CCDS41647.1	11q11	2012-08-09			ENSG00000172199	ENSG00000172199		"""GPCR / Class A : Olfactory receptors"""	19611	protein-coding gene	gene with protein product							Standard	NM_001005204		Approved			Q8NH10	OTTHUMG00000166860	ENST00000302270.1:c.545T>C	11.37:g.56143644T>C	ENSP00000304188:p.Met182Thr						p.M182T	NM_001005204.1	NP_001005204.1					1	545	+	Esophageal squamous(21;0.00448)								Missense_Mutation	SNP	ENST00000302270.1	37	c.545T>C	CCDS41647.1	.	.	.	.	.	.	.	.	.	.	T	6.555	0.470640	0.12461	.	.	ENSG00000172199	ENST00000302270	T	0.00069	8.77	5.78	4.67	0.58626	GPCR, rhodopsin-like superfamily (1);	0.101660	0.43919	D	0.000503	T	0.00073	0.0002	N	0.02539	-0.55	0.22866	N	0.998634	B	0.25312	0.123	B	0.32928	0.155	T	0.33189	-0.9878	10	0.54805	T	0.06	.	4.0598	0.09832	0.0:0.1423:0.1982:0.6595	.	182	Q8NH10	OR8U1_HUMAN	T	182	ENSP00000304188:M182T	ENSP00000304188:M182T	M	+	2	0	OR8U1	55900220	0.004000	0.15560	1.000000	0.80357	0.025000	0.11179	1.897000	0.39799	2.214000	0.71695	0.523000	0.50628	ATG		0.453	OR8U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391607.1	NM_001005204		54	291	0	0	0	1	0	54	291				
PYROXD1	79912	broad.mit.edu	37	12	21614000	21614000	+	Silent	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr12:21614000G>A	ENST00000240651.9	+	8	846	c.792G>A	c.(790-792)aaG>aaA	p.K264K	PYROXD1_ENST00000545178.1_3'UTR|PYROXD1_ENST00000538582.1_Silent_p.K193K	NM_024854.3	NP_079130.2	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	264							oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						GTGAAGTAAAGAAAATCTACC	0.328																																						ENST00000538582.1																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						c.(577-579)aaG>aaA		pyridine nucleotide-disulphide oxidoreductase domain 1							46.0	53.0	51.0					12																	21614000		2202	4286	6488	SO:0001819	synonymous_variant	79912						oxidoreductase activity	g.chr12:21614000G>A	AL832441	CCDS31755.1	12p12.1	2014-02-12			ENSG00000121350	ENSG00000121350			26162	protein-coding gene	gene with protein product						12477932	Standard	NM_024854		Approved	DKFZp762G094, FLJ22028	uc001rew.3	Q8WU10	OTTHUMG00000169129	ENST00000240651.9:c.792G>A	12.37:g.21614000G>A						PYROXD1_ENST00000545178.1_3'UTR|PYROXD1_ENST00000240651.9_Silent_p.K264K	p.K193K			Q8WU10	PYRD1_HUMAN			8	1332	+			264					A6NKI6|B3KWN8|Q9H6P1	Silent	SNP	ENST00000240651.9	37	c.579G>A	CCDS31755.1																																																																																				0.328	PYROXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402363.1	NM_024854		20	43	0	0	0	1	0	20	43				
COL11A1	1301	broad.mit.edu	37	1	103544216	103544216	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:103544216delC	ENST00000370096.3	-	3	798	c.486delG	c.(484-486)gggfs	p.G162fs	COL11A1_ENST00000358392.2_Frame_Shift_Del_p.G162fs|COL11A1_ENST00000512756.1_Frame_Shift_Del_p.G162fs|COL11A1_ENST00000353414.4_Frame_Shift_Del_p.G162fs	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	162	Laminin G-like.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTACTTACTTCCCGTCAGCGA	0.358																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(484-486)ggfs		collagen, type XI, alpha 1							73.0	77.0	75.0					1																	103544216		2203	4300	6503	SO:0001589	frameshift_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103544216delC	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.486delG	1.37:g.103544216delC	ENSP00000359114:p.Gly162fs					COL11A1_ENST00000370096.3_Frame_Shift_Del_p.G162fs|COL11A1_ENST00000353414.4_Frame_Shift_Del_p.G162fs|COL11A1_ENST00000512756.1_Frame_Shift_Del_p.G162fs	p.G162fs	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	3	803	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	162			TSP N-terminal.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Frame_Shift_Del	DEL	ENST00000370096.3	37	c.486delG	CCDS778.1																																																																																				0.358	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		22	42						22	42	---	---	---	---
LOC101927533	101927533	broad.mit.edu	37	2	65894933	65894933	+	lincRNA	DEL	A	A	-			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:65894933delA	ENST00000377977.3	+	0	862				AC007389.4_ENST00000583614.1_RNA																							TCAGAGGTTTAAAAAAAAAAA	0.517																																						ENST00000377977.3																			0																																																			101927533							g.chr2:65894933delA																													2.37:g.65894933delA														0	862	+									RNA	DEL	ENST00000377977.3	37																																																																																						0.517	AC074391.1-010	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470883.1			2	4						2	4	---	---	---	---
CLASP2	23122	broad.mit.edu	37	3	33645691	33645691	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:33645691delA	ENST00000468888.2	-	17	1754	c.1708delT	c.(1708-1710)tctfs	p.S571fs	CLASP2_ENST00000333778.6_Frame_Shift_Del_p.S347fs|CLASP2_ENST00000461133.3_Frame_Shift_Del_p.S337fs|CLASP2_ENST00000313350.6_Frame_Shift_Del_p.S343fs|CLASP2_ENST00000539981.1_Frame_Shift_Del_p.S322fs|CLASP2_ENST00000480013.1_Frame_Shift_Del_p.S337fs|CLASP2_ENST00000487200.1_Frame_Shift_Del_p.S343fs|CLASP2_ENST00000359576.5_Frame_Shift_Del_p.S570fs|CLASP2_ENST00000399362.4_Frame_Shift_Del_p.S570fs|CLASP2_ENST00000307312.7_Frame_Shift_Del_p.S59fs			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	337	Interaction with microtubules, MAPRE1 and MAPRE3.|Ser-rich.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CATTTGGAAGAAAAAGGGCGA	0.323																																						ENST00000399362.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1705-1707)ctfs		cytoplasmic linker associated protein 2							29.0	28.0	28.0					3																	33645691		1783	4044	5827	SO:0001589	frameshift_variant	23122							g.chr3:33645691delA	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.1708delT	3.37:g.33645691delA	ENSP00000419974:p.Ser571fs					CLASP2_ENST00000461133.3_Frame_Shift_Del_p.S337fs|CLASP2_ENST00000487200.1_Frame_Shift_Del_p.S343fs|CLASP2_ENST00000313350.6_Frame_Shift_Del_p.S343fs|CLASP2_ENST00000307312.7_Frame_Shift_Del_p.S59fs|CLASP2_ENST00000333778.6_Frame_Shift_Del_p.S347fs|CLASP2_ENST00000480013.1_Frame_Shift_Del_p.S337fs|CLASP2_ENST00000468888.2_Frame_Shift_Del_p.S571fs|CLASP2_ENST00000359576.5_Frame_Shift_Del_p.S570fs|CLASP2_ENST00000539981.1_Frame_Shift_Del_p.S322fs	p.S570fs	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN			17	2058	-			571					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Frame_Shift_Del	DEL	ENST00000468888.2	37	c.1705delT																																																																																					0.323	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		2	4						2	4	---	---	---	---
RP11-93K22.13	0	broad.mit.edu	37	3	129814807	129814807	+	lincRNA	DEL	G	G	-	rs71158106	byFrequency	TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:129814807delG	ENST00000514010.1	-	0	0				AC083906.2_ENST00000578837.1_RNA|ALG1L2_ENST00000507643.1_RNA																							CACTCCCCTCGGGGGGTGTTG	0.607														857	0.171126	0.2088	0.1628	5008	,	,		17216	0.003		0.2932	False		,,,				2504	0.1738					ENST00000507643.1																			0																																																			644974				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr3:129814807delG																													3.37:g.129814807delG										C9J202	AG1L2_HUMAN			0	456	+									RNA	DEL	ENST00000514010.1	37																																																																																						0.607	RP11-93K22.13-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000358040.1			2	4						2	4	---	---	---	---
CP	1356	broad.mit.edu	37	3	148939561	148939567	+	Frame_Shift_Del	DEL	CAAGTAT	CAAGTAT	-	rs199779396		TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:148939561_148939567delCAAGTAT	ENST00000264613.6	-	1	275_281	c.13_19delATACTTG	c.(13-21)atacttggtfs	p.ILG5fs		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	5					cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	AGAAAAATACCAAGTATCAAAATCTTC	0.357																																						ENST00000264613.6																			0				breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(13-21)gtfs		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)																																			SO:0001589	frameshift_variant	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148939561_148939567delCAAGTAT	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.13_19delATACTTG	3.37:g.148939561_148939567delCAAGTAT	ENSP00000264613:p.Ile5fs						p.ILG5fs	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		1	275_281	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	5					Q14063|Q2PP18|Q9UKS4	Frame_Shift_Del	DEL	ENST00000264613.6	37	c.13_19delATACTTG	CCDS3141.1																																																																																				0.357	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		18	68						18	68	---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176707779	176707780	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:176707779_176707780insT	ENST00000439151.2	+	18	5881_5882	c.5836_5837insT	c.(5836-5838)attfs	p.I1946fs	NSD1_ENST00000354179.4_Frame_Shift_Ins_p.I1677fs|NSD1_ENST00000347982.4_Frame_Shift_Ins_p.I1677fs|NSD1_ENST00000361032.4_Frame_Shift_Ins_p.I1843fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1946	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		AGAGGTTGAAATTTTCCGCACA	0.465			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(5836-5838)tttfs		nuclear receptor binding SET domain protein 1																																				SO:0001589	frameshift_variant	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176707779_176707780insT	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5840dupT	5.37:g.176707783_176707783dupT	ENSP00000395929:p.Ile1946fs	HNSCC(47;0.14)				NSD1_ENST00000354179.4_Frame_Shift_Ins_p.F1677fs|NSD1_ENST00000347982.4_Frame_Shift_Ins_p.F1677fs|NSD1_ENST00000361032.4_Frame_Shift_Ins_p.F1843fs	p.F1946fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	18	5881_5882	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1946			SET.		Q96PD8|Q96RN7	Frame_Shift_Ins	INS	ENST00000439151.2	37	c.5836_5837insT	CCDS4412.1																																																																																				0.465	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		12	68						12	68	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100389573	100389581	+	RNA	DEL	CTGTCTCTA	CTGTCTCTA	-	rs374803297	byFrequency	TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr7:100389573_100389581delCTGTCTCTA	ENST00000348028.3	+	0	7693				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GACCCCGTGGCTGTCTCTACTGCAGGGCT	0.651																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100389573_100389581delCTGTCTCTA	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100389573_100389581delCTGTCTCTA						ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	7674	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	DEL	ENST00000348028.3	37																																																																																						0.651	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		16	24						16	24	---	---	---	---
ADAMDEC1	27299	broad.mit.edu	37	8	24249885	24249885	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:24249885delG	ENST00000256412.4	+	2	419	c.199delG	c.(199-201)ggcfs	p.G67fs	RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000538205.1_5'UTR|ADAMDEC1_ENST00000522298.1_Intron|RP11-624C23.1_ENST00000523578.1_RNA	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	67					immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AGAAAAGCATGGCAAAGAGGT	0.363																																					Ovarian(147;687 1849 3699 25981 31337)	ENST00000256412.4																			0				NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9						c.(199-201)gcfs		ADAM-like, decysin 1							94.0	86.0	89.0					8																	24249885		2203	4300	6503	SO:0001589	frameshift_variant	27299				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:24249885delG	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.199delG	8.37:g.24249885delG	ENSP00000256412:p.Gly67fs					ADAMDEC1_ENST00000538205.1_5'UTR|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Intron|RP11-624C23.1_ENST00000519689.1_RNA	p.G67fs	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)	2	419	+		Prostate(55;0.0181)	67					B7ZAK5	Frame_Shift_Del	DEL	ENST00000256412.4	37	c.199delG	CCDS6044.1																																																																																				0.363	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479		8	31						8	31	---	---	---	---
KCNV1	27012	broad.mit.edu	37	8	110980721	110980722	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:110980721_110980722insA	ENST00000524391.1	-	4	2130_2131	c.1098_1099insT	c.(1096-1101)tttgctfs	p.A367fs	KCNV1_ENST00000297404.1_Frame_Shift_Ins_p.A367fs			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	367					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CTTTGCTCAGCAAAGTATTCTA	0.48																																						ENST00000524391.1																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1096-1101)ttctgafs		potassium channel, subfamily V, member 1																																				SO:0001589	frameshift_variant	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110980721_110980722insA	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.1099dupT	8.37:g.110980724_110980724dupA	ENSP00000435954:p.Ala367fs					KCNV1_ENST00000297404.1_Frame_Shift_Ins_p.*367fs	p.*367fs			Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		4	2130_2131	-	all_neural(195;0.219)		367					Q9UHJ4	Frame_Shift_Ins	INS	ENST00000524391.1	37	c.1098_1099insT	CCDS6314.1																																																																																				0.480	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		26	52						26	52	---	---	---	---
FAM74A7	100996582	broad.mit.edu	37	9	40715923	40715924	+	lincRNA	DEL	AA	AA	-	rs374953827|rs62565543	byFrequency	TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:40715923_40715924delAA	ENST00000432614.1	-	0	0				FAM74A3_ENST00000604146.1_lincRNA																							GAAGACGTGGAAAGAGCTCAGA	0.569																																						ENST00000604146.1																			0				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10																																														728495							g.chr9:40715923_40715924delAA																													9.37:g.40715923_40715924delAA								NR_026801.1					GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	0	262_263	+									RNA	DEL	ENST00000432614.1	37																																																																																						0.569	RP11-395E19.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143688.1			3	6						3	6	---	---	---	---
CEP83	51134	broad.mit.edu	37	12	94794751	94794751	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr12:94794751delC	ENST00000397809.5	-	6	973	c.424delG	c.(424-426)gaafs	p.E142fs	CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000547575.1_Frame_Shift_Del_p.E142fs|CCDC41_ENST00000397807.2_Frame_Shift_Del_p.E109fs|CCDC41_ENST00000339839.5_Frame_Shift_Del_p.E142fs	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		134					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						CTATACTTTTCTACCTCCTAA	0.294																																						ENST00000397809.5																			0				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						c.(424-426)aafs		coiled-coil domain containing 41							88.0	86.0	87.0					12																	94794751		1803	4056	5859	SO:0001589	frameshift_variant	51134							g.chr12:94794751delC																												ENST00000397809.5:c.424delG	12.37:g.94794751delC	ENSP00000380911:p.Glu142fs					CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000397807.2_Frame_Shift_Del_p.E109fs|CCDC41_ENST00000547575.1_Frame_Shift_Del_p.E142fs|CCDC41_ENST00000339839.5_Frame_Shift_Del_p.E142fs	p.E142fs	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN			6	973	-			134					A4FVB1|Q08AP1	Frame_Shift_Del	DEL	ENST00000397809.5	37	c.424delG	CCDS41820.1																																																																																				0.294	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3			25	74						25	74	---	---	---	---
SPG7	6687	broad.mit.edu	37	16	89613072	89613073	+	Frame_Shift_Ins	INS	-	-	G	rs111475461	byFrequency	TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr16:89613072_89613073insG	ENST00000268704.2	+	11	1471_1472	c.1456_1457insG	c.(1456-1458)cggfs	p.R486fs		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	486			R -> Q (in dbSNP:rs111475461).		anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GCAGGAGAGGCGGGAGATTTTT	0.594																																						ENST00000268704.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20						c.(1456-1458)ggafs		spastic paraplegia 7 (pure and complicated autosomal recessive)																																				SO:0001589	frameshift_variant	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89613072_89613073insG	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1459dupG	16.37:g.89613075_89613075dupG	ENSP00000268704:p.Arg486fs						p.G486fs	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	11	1471_1472	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	486		R -> Q.			O75756|Q2TB70|Q58F00|Q96IB0	Frame_Shift_Ins	INS	ENST00000268704.2	37	c.1456_1457insG	CCDS10977.1																																																																																				0.594	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		8	209						8	209	---	---	---	---
CD300C	10871	broad.mit.edu	37	17	72541049	72541050	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:72541049_72541050insC	ENST00000330793.1	-	2	458_459	c.98_99insG	c.(97-99)ggcfs	p.G33fs		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	33	Ig-like V-type.				cellular defense response (GO:0006968)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						CCCCCACGGGGCCCGCCACGGT	0.564																																					Esophageal Squamous(66;421 1121 20537 25337 27468)	ENST00000330793.1																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						c.(97-99)gccfs		CD300c molecule																																				SO:0001589	frameshift_variant	10871				cellular defense response	integral to plasma membrane	transmembrane receptor activity	g.chr17:72541049_72541050insC	BC022279	CCDS11701.1	17q25.2	2014-05-15	2006-03-28		ENSG00000167850	ENSG00000167850		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19320	protein-coding gene	gene with protein product		606786	"""CD300c antigen"""			1349532, 10746781	Standard	NM_006678		Approved	CMRF35, LIR, CMRF-35A, CMRF35A, IGSF16	uc002jky.2	Q08708	OTTHUMG00000067608	ENST00000330793.1:c.99dupG	17.37:g.72541052_72541052dupC	ENSP00000329507:p.Gly33fs						p.A33fs	NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN			2	458_459	-			33			Ig-like V-type.			Frame_Shift_Ins	INS	ENST00000330793.1	37	c.98_99insG	CCDS11701.1																																																																																				0.564	CD300C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145084.1	NM_006678		7	191						7	191	---	---	---	---
ZNF567	163081	broad.mit.edu	37	19	37210374	37210375	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr19:37210374_37210375insA	ENST00000536254.2	+	6	970_971	c.748_749insA	c.(748-750)gaafs	p.E250fs	ZNF567_ENST00000360729.4_Frame_Shift_Ins_p.E219fs|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000585696.1_Frame_Shift_Ins_p.E219fs|ZNF567_ENST00000392163.2_Frame_Shift_Ins_p.E219fs|ZNF567_ENST00000588311.1_Frame_Shift_Ins_p.E219fs			Q8N184	ZN567_HUMAN	zinc finger protein 567	250					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AACCAATATTGAAAAAAAACAT	0.351																																						ENST00000585696.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(655-657)aaafs		zinc finger protein 567																																				SO:0001589	frameshift_variant	163081				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37210374_37210375insA	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.756dupA	19.37:g.37210382_37210382dupA	ENSP00000441838:p.Glu250fs					ZNF567_ENST00000536254.2_Frame_Shift_Ins_p.K250fs|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000360729.4_Frame_Shift_Ins_p.K219fs|ZNF567_ENST00000392163.2_Frame_Shift_Ins_p.K219fs|ZNF567_ENST00000588311.1_Frame_Shift_Ins_p.K219fs	p.K219fs			Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	1885_1886	+	Esophageal squamous(110;0.198)		250					B3KX49|Q6N044	Frame_Shift_Ins	INS	ENST00000536254.2	37	c.655_656insA																																																																																					0.351	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		8	12						8	12	---	---	---	---
TPTEP1	387590	broad.mit.edu	37	22	17131430	17131432	+	lincRNA	DEL	CAC	CAC	-	rs34598386|rs71313627|rs202098224	byFrequency	TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr22:17131430_17131432delCAC	ENST00000426585.1	+	0	2456_2458									transmembrane phosphatase with tensin homology pseudogene 1																		caccatccatcaccaacagaaac	0.443														1332	0.265974	0.0219	0.1614	5008	,	,		23789	0.3542		0.336	False		,,,				2504	0.5072					ENST00000426585.1																			0																																																			387590							g.chr22:17131430_17131432delCAC			22q11.1	2013-10-15			ENSG00000100181	ENSG00000100181			43648	pseudogene	pseudogene						14659893	Standard	NR_001591		Approved	psiTPTE22	uc002zlr.3		OTTHUMG00000141300		22.37:g.17131430_17131432delCAC														0	2456_2458	+									RNA	DEL	ENST00000426585.1	37																																																																																						0.443	TPTEP1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000280575.1	NR_001591		3	3						3	3	---	---	---	---
