#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
SCNN1D	6339	broad.mit.edu	37	1	1222931	1222931	+	Missense_Mutation	SNP	A	A	G			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:1222931A>G	ENST00000338555.2	+	7	2006	c.862A>G	c.(862-864)Acg>Gcg	p.T288A	SCNN1D_ENST00000400928.3_Missense_Mutation_p.T288A|SCNN1D_ENST00000325425.8_Missense_Mutation_p.T354A|SCNN1D_ENST00000379116.5_Missense_Mutation_p.T452A			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	288					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	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;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	CAGCTGCTACACGGTCGATGG	0.677																																						uc001adt.1																			0				lung(6)|skin(1)	7						c.(1354-1356)Acg>Gcg		Homo sapiens sodium channel, nonvoltage-gated 1, delta (SCNN1D), transcript variant 1, mRNA.							47.0	48.0	47.0					1																	1222931		2199	4295	6494	SO:0001583	missense	6339							g.chr1:1222931A>G	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10601	protein-coding gene	gene with protein product		601328	"""sodium channel, nonvoltage-gated 1, delta"", ""sodium channel, non-voltage-gated 1, delta"""			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.862A>G	1.37:g.1222931A>G	ENSP00000339504:p.Thr288Ala					SCNN1D_uc001adu.1_Missense_Mutation_p.T288A|SCNN1D_uc001adw.2_Missense_Mutation_p.T354A|SCNN1D_uc001adv.2_Missense_Mutation_p.T288A|SCNN1D_uc001adx.2_Silent_p.T51T	p.T452A	NM_001130413	NP_001123885				Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	9	1580	+	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)						A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	ENST00000338555.2	37	c.1354A>G		.	.	.	.	.	.	.	.	.	.	A	11.89	1.773548	0.31411	.	.	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928;ENST00000379099	T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;0.85	3.13	1.98	0.26296	.	0.325881	0.24996	N	0.033944	T	0.79936	0.4532	M	0.86864	2.845	0.22142	N	0.999337	D;D	0.76494	0.997;0.999	D;D	0.74348	0.983;0.939	T	0.68667	-0.5348	10	0.72032	D	0.01	.	6.991	0.24755	0.8817:0.0:0.1183:0.0	.	288;452	P51172;A6NNF7	SCNND_HUMAN;.	A	319;452;288;354;288;79	ENSP00000368411:T452A;ENSP00000339504:T288A;ENSP00000321594:T354A;ENSP00000383717:T288A;ENSP00000368393:T79A	ENSP00000321594:T354A	T	+	1	0	SCNN1D	1212794	0.509000	0.26163	0.072000	0.20136	0.001000	0.01503	2.021000	0.41020	0.409000	0.25649	0.260000	0.18958	ACG		0.677	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2	NM_002978	
ACTL8	81569	broad.mit.edu	37	1	18152553	18152553	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:18152553G>A	ENST00000375406.1	+	3	856	c.640G>A	c.(640-642)Gtg>Atg	p.V214M		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	214					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CAAGTGCTACGTGCCGCAGAA	0.567											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001bat.3																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(640-642)Gtg>Atg		Homo sapiens actin-like 8 (ACTL8), mRNA.							44.0	46.0	45.0					1																	18152553		2203	4300	6503	SO:0001583	missense	81569					cytoplasm|cytoskeleton		g.chr1:18152553G>A	AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"""cancer/testis antigen 57"""						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.640G>A	1.37:g.18152553G>A	ENSP00000364555:p.Val214Met		OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	723		p.V214M	NM_030812	NP_110439	Q9H568	ACTL8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	2	856	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	214					Q13104|Q96M75	Missense_Mutation	SNP	ENST00000375406.1	37	c.640G>A	CCDS183.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484423	0.63962	.	.	ENSG00000117148	ENST00000375406	D	0.97352	-4.35	5.25	4.31	0.51392	.	0.000000	0.40728	N	0.001023	D	0.98639	0.9544	M	0.92691	3.335	0.37170	D	0.903023	D	0.89917	1.0	D	0.72625	0.978	D	0.99959	1.1683	10	0.87932	D	0	-47.031	13.6925	0.62556	0.0:0.1564:0.8436:0.0	.	214	Q9H568	ACTL8_HUMAN	M	214	ENSP00000364555:V214M	ENSP00000364555:V214M	V	+	1	0	ACTL8	18025140	1.000000	0.71417	0.969000	0.41365	0.267000	0.26476	6.869000	0.75521	1.287000	0.44583	0.655000	0.94253	GTG		0.567	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1	NM_030812	
SCMH1	22955	broad.mit.edu	37	1	41514522	41514522	+	Silent	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:41514522G>A	ENST00000326197.7	-	10	1415	c.1116C>T	c.(1114-1116)caC>caT	p.H372H	SCMH1_ENST00000397171.2_Silent_p.H311H|SCMH1_ENST00000372596.1_Silent_p.H311H|SCMH1_ENST00000361191.5_Silent_p.H311H|SCMH1_ENST00000337495.5_Silent_p.H382H|SCMH1_ENST00000402904.2_Silent_p.H372H|SCMH1_ENST00000397174.2_Silent_p.H352H|SCMH1_ENST00000372597.1_Silent_p.H325H|SCMH1_ENST00000361705.3_Silent_p.H325H|SCMH1_ENST00000372595.1_Silent_p.H311H|SCMH1_ENST00000456518.2_Silent_p.H214H					sex comb on midleg homolog 1 (Drosophila)											breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				TCTTATCTAAGTGGGGGCCTG	0.493																																						uc001cgo.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15						c.(1114-1116)caC>caT		Homo sapiens sex comb on midleg homolog 1 (Drosophila) (SCMH1), transcript variant 1, mRNA.							116.0	117.0	117.0					1																	41514522		2203	4300	6503	SO:0001819	synonymous_variant	22955				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:41514522G>A	AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"""Sterile alpha motif (SAM) domain containing"""	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.1116C>T	1.37:g.41514522G>A						SCMH1_uc010ojr.2_Silent_p.H214H|SCMH1_uc001cgp.3_Silent_p.H311H|SCMH1_uc001cgr.3_Silent_p.H311H|SCMH1_uc001cgq.3_Silent_p.H325H|SCMH1_uc001cgs.3_Silent_p.H382H|SCMH1_uc001cgt.3_Silent_p.H311H|SCMH1_uc010ojs.1_Non-coding_Transcript	p.H372H	NM_001031694	NP_001165692	Q96GD3	SCMH1_HUMAN			10	1485	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)	372						Silent	SNP	ENST00000326197.7	37	c.1116C>T	CCDS30688.1																																																																																				0.493	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1		
CPT2	1376	broad.mit.edu	37	1	53666396	53666396	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:53666396C>T	ENST00000371486.3	+	2	673	c.158C>T	c.(157-159)cCt>cTt	p.P53L	CPT2_ENST00000468572.1_3'UTR	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	53					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	CCCAGGCTGCCTATTCCCAAA	0.433																																						uc001cvb.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15						c.(157-159)cCt>cTt		Homo sapiens carnitine palmitoyltransferase 2 (CPT2), nuclear gene encoding mitochondrial protein, mRNA.	L-Carnitine(DB00583)|Perhexiline(DB01074)						133.0	128.0	130.0					1																	53666396		2203	4300	6503	SO:0001583	missense	1376				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity	g.chr1:53666396C>T	BC002445	CCDS575.1	1p32.3	2014-01-09	2009-03-04		ENSG00000157184	ENSG00000157184	2.3.1.21		2330	protein-coding gene	gene with protein product		600650	"""carnitine palmitoyltransferase II"""	CPT1		1339389	Standard	NM_000098		Approved	CPTASE	uc001cvb.4	P23786	OTTHUMG00000008942	ENST00000371486.3:c.158C>T	1.37:g.53666396C>T	ENSP00000360541:p.Pro53Leu						p.P53L	NM_000098	NP_000089	P23786	CPT2_HUMAN			1	673	+			53					B2R6S0|Q5SW68|Q9BQ26	Missense_Mutation	SNP	ENST00000371486.3	37	c.158C>T	CCDS575.1	.	.	.	.	.	.	.	.	.	.	C	33	5.211641	0.95069	.	.	ENSG00000157184	ENST00000371486	D	0.98862	-5.19	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.99513	0.9826	H	0.97158	3.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98264	1.0500	10	0.87932	D	0	-3.9917	19.905	0.97004	0.0:1.0:0.0:0.0	.	53	P23786	CPT2_HUMAN	L	53	ENSP00000360541:P53L	ENSP00000360541:P53L	P	+	2	0	CPT2	53438984	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.879000	0.75572	2.804000	0.96469	0.462000	0.41574	CCT		0.433	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024757.1	NM_000098	
FLG	2312	broad.mit.edu	37	1	152284782	152284782	+	Silent	SNP	C	C	T	rs146300888	byFrequency	TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:152284782C>T	ENST00000368799.1	-	3	2615	c.2580G>A	c.(2578-2580)tcG>tcA	p.S860S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	860	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.S860>?(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)			ACCTATCTACCGATTGCTCGT	0.587									Ichthyosis				-|||	4	0.000798722	0.0	0.0029	5008	,	,		21122	0.0		0.002	False		,,,				2504	0.0					uc001ezu.1																			1	Complex(1)	p.S860>?(2)	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.(2578-2580)tcG>tcA		Homo sapiens filaggrin (FLG), mRNA.		C		3,4403		0,3,2200	343.0	333.0	337.0		2580	-7.6	0.0	1	dbSNP_134	337	28,8572		1,26,4273	no	coding-synonymous	FLG	NM_002016.1		1,29,6473	TT,TC,CC		0.3256,0.0681,0.2384		860/4062	152284782	31,12975	2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284782C>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.2580G>A	1.37:g.152284782C>T						AK056431_uc001ezv.3_5'Flank	p.S860S	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2616	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		860			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.2580G>A	CCDS30860.1																																																																																				0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
PKLR	5313	broad.mit.edu	37	1	155264053	155264053	+	Silent	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:155264053C>T	ENST00000342741.4	-	7	1127	c.1089G>A	c.(1087-1089)gcG>gcA	p.A363A	PKLR_ENST00000392414.3_Silent_p.A332A	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	363					ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CAGGCTTGCCCGCCAAGTTGC	0.577																																						uc001fkb.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1087-1089)gcG>gcA		Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Pyruvic acid(DB00119)						90.0	85.0	87.0					1																	155264053		2203	4300	6503	SO:0001819	synonymous_variant	5313				endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	g.chr1:155264053C>T	BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.1089G>A	1.37:g.155264053C>T						PKLR_uc001fka.4_Silent_p.A332A	p.A363A	NM_000298	NP_000289	P30613	KPYR_HUMAN	Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		6	1128	-	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		363					O75758|P11973	Silent	SNP	ENST00000342741.4	37	c.1089G>A	CCDS1109.1																																																																																				0.577	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298	
MPZL1	9019	broad.mit.edu	37	1	167757139	167757139	+	Missense_Mutation	SNP	C	C	T	rs375874838		TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:167757139C>T	ENST00000359523.2	+	6	993	c.791C>T	c.(790-792)gCg>gTg	p.A264V	MPZL1_ENST00000392121.3_Missense_Mutation_p.A114V|MPZL1_ENST00000403379.3_3'UTR	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	264					cell-cell signaling (GO:0007267)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	structural molecule activity (GO:0005198)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					GTGGTGTATGCGGATATCCGA	0.448																																						uc001geo.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15						c.(790-792)gCg>gTg		Homo sapiens myelin protein zero-like 1 (MPZL1), transcript variant 1, mRNA.		C	VAL/ALA,VAL/ALA,	1,4405	2.1+/-5.4	0,1,2202	96.0	89.0	92.0		341,791,	4.6	0.1	1		92	0,8600		0,0,4300	no	missense,missense,utr-3	MPZL1	NM_001146191.1,NM_003953.5,NM_024569.4	64,64,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,	114/120,264/270,	167757139	1,13005	2203	4300	6503	SO:0001583	missense	9019				cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity	g.chr1:167757139C>T	AF087020	CCDS1264.1, CCDS44273.1, CCDS53425.1	1q24.2	2013-01-11			ENSG00000197965	ENSG00000197965		"""Immunoglobulin superfamily / V-set domain containing"""	7226	protein-coding gene	gene with protein product		604376				9792637	Standard	NM_003953		Approved	PZR, FLJ21047	uc001geo.3	O95297	OTTHUMG00000034571	ENST00000359523.2:c.791C>T	1.37:g.167757139C>T	ENSP00000352513:p.Ala264Val					MPZL1_uc001gep.3_3'UTR|MPZL1_uc001geq.3_Missense_Mutation_p.A114V|MPZL1_uc009wvh.3_Non-coding_Transcript	p.A264V	NM_003953	NP_003944	O95297	MPZL1_HUMAN			5	993	+	all_hematologic(923;0.215)		264					B2REB9|B2REC0|Q5R332|Q8IX11|Q9BWZ3|Q9NYK4|Q9UL20	Missense_Mutation	SNP	ENST00000359523.2	37	c.791C>T	CCDS1264.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273622	0.80580	2.27E-4	0.0	ENSG00000197965	ENST00000359523;ENST00000392121	D;D	0.99637	-4.65;-6.29	4.58	4.58	0.56647	.	.	.	.	.	D	0.99196	0.9721	L	0.32530	0.975	0.47778	D	0.999516	D;D	0.89917	1.0;1.0	D;D	0.78314	0.974;0.991	D	0.99541	1.0963	8	0.87932	D	0	.	16.5301	0.84355	0.0:1.0:0.0:0.0	.	114;264	B2REC0;O95297	.;MPZL1_HUMAN	V	264;114	ENSP00000352513:A264V;ENSP00000375968:A114V	ENSP00000352513:A264V	A	+	2	0	MPZL1	166023763	0.994000	0.37717	0.059000	0.19551	0.772000	0.43724	3.449000	0.52950	2.505000	0.84491	0.650000	0.86243	GCG		0.448	MPZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083655.2	NM_024569	
HMCN1	83872	broad.mit.edu	37	1	185956672	185956672	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:185956672C>G	ENST00000271588.4	+	20	3273	c.3044C>G	c.(3043-3045)tCc>tGc	p.S1015C	HMCN1_ENST00000367492.2_Missense_Mutation_p.S1015C|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1015	Ig-like C2-type 7.				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						GTCATCTGGTCCAAGGTAAAT	0.458																																						uc001grq.1																			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.(3043-3045)tCc>tGc		Homo sapiens hemicentin 1 (HMCN1), mRNA.							139.0	143.0	142.0					1																	185956672		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185956672C>G	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.3044C>G	1.37:g.185956672C>G	ENSP00000271588:p.Ser1015Cys					HMCN1_uc001grr.1_Missense_Mutation_p.S356C	p.S1015C	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			19	3273	+			1015			Ig-like C2-type 7.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.3044C>G	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721284	0.68959	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.39997	1.05;1.05	5.33	5.33	0.75918	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.339328	0.31323	N	0.007855	T	0.63570	0.2522	M	0.81239	2.535	0.44168	D	0.996974	D;D	0.71674	0.996;0.998	D;D	0.65987	0.94;0.935	T	0.64664	-0.6354	10	0.41790	T	0.15	.	13.9317	0.64001	0.1519:0.8481:0.0:0.0	.	399;1015	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	C	1015	ENSP00000271588:S1015C;ENSP00000356462:S1015C	ENSP00000271588:S1015C	S	+	2	0	HMCN1	184223295	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	4.288000	0.59007	2.501000	0.84356	0.655000	0.94253	TCC		0.458	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
RBBP5	5929	broad.mit.edu	37	1	205065884	205065884	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:205065884G>A	ENST00000264515.6	-	12	1463	c.1322C>T	c.(1321-1323)tCa>tTa	p.S441L	RBBP5_ENST00000367164.1_Missense_Mutation_p.S441L	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	441					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CCCATCTGCTGAGGACTGCCT	0.493																																						uc010prd.2																			0				cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27						c.(1426-1428)tCa>tTa		Homo sapiens retinoblastoma binding protein 5 (RBBP5), transcript variant 1, mRNA.							191.0	190.0	190.0					1																	205065884		2203	4300	6503	SO:0001583	missense	5929				histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding	g.chr1:205065884G>A	BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"""WD repeat domain containing"""	9888	protein-coding gene	gene with protein product	"""SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"""	600697	"""retinoblastoma-binding protein 5"""			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.1322C>T	1.37:g.205065884G>A	ENSP00000264515:p.Ser441Leu					RBBP5_uc010pre.2_Missense_Mutation_p.S314L|RBBP5_uc001hbu.2_Missense_Mutation_p.S441L|RBBP5_uc001hbv.2_Missense_Mutation_p.S441L	p.S476L	NM_005057	NP_005048	Q15291	RBBP5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		10	1708	-	Breast(84;0.0505)		441					A8K272|Q7Z6D8|Q8NDZ7	Missense_Mutation	SNP	ENST00000264515.6	37	c.1427C>T	CCDS30983.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823134	0.50739	.	.	ENSG00000117222	ENST00000264515;ENST00000367164	T;T	0.60299	0.2;0.21	5.77	5.77	0.91146	.	0.057993	0.64402	D	0.000001	T	0.47619	0.1455	L	0.38175	1.15	0.53688	D	0.999977	B;B;B;B	0.20887	0.049;0.0;0.002;0.007	B;B;B;B	0.18263	0.021;0.001;0.005;0.005	T	0.34279	-0.9835	10	0.29301	T	0.29	.	13.8459	0.63468	0.0734:0.0:0.9266:0.0	.	314;476;441;441	B4DLF8;B4DMM7;Q15291-2;Q15291	.;.;.;RBBP5_HUMAN	L	441	ENSP00000264515:S441L;ENSP00000356132:S441L	ENSP00000264515:S441L	S	-	2	0	RBBP5	203332507	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.998000	0.63927	2.727000	0.93392	0.655000	0.94253	TCA		0.493	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1	NM_005057	
KCNK1	3775	broad.mit.edu	37	1	233802400	233802400	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:233802400G>A	ENST00000366621.3	+	2	583	c.415G>A	c.(415-417)Gtc>Atc	p.V139I	KCNK1_ENST00000366620.1_Missense_Mutation_p.V23I|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	139					potassium ion transport (GO:0006813)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	CATCTACTCCGTCATTGGCAT	0.582																																						uc010pxo.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11						c.(415-417)Gtc>Atc		Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	Ibutilide(DB00308)|Quinidine(DB00908)						212.0	145.0	167.0					1																	233802400		2203	4300	6503	SO:0001583	missense	3775					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr1:233802400G>A	U33632	CCDS1599.1	1q42-q43	2012-03-07			ENSG00000135750	ENSG00000135750		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6272	protein-coding gene	gene with protein product		601745				8661042, 16382106	Standard	NM_002245		Approved	K2p1.1, DPK, TWIK-1	uc010pxo.1	O00180	OTTHUMG00000037923	ENST00000366621.3:c.415G>A	1.37:g.233802400G>A	ENSP00000355580:p.Val139Ile						p.V139I	NM_002245	NP_002236	O00180	KCNK1_HUMAN			1	583	+		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)	139					Q13307|Q5T5E8	Missense_Mutation	SNP	ENST00000366621.3	37	c.415G>A	CCDS1599.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974651	0.53720	.	.	ENSG00000135750	ENST00000366621;ENST00000366620;ENST00000446915	T;T;T	0.30714	1.97;1.52;1.52	5.91	4.05	0.47172	Ion transport 2 (1);	0.221641	0.46442	N	0.000293	T	0.12561	0.0305	N	0.04636	-0.2	0.50171	D	0.999855	B	0.33000	0.393	B	0.24006	0.05	T	0.11817	-1.0572	10	0.35671	T	0.21	.	9.6445	0.39859	0.2091:0.0:0.7909:0.0	.	139	O00180	KCNK1_HUMAN	I	139;23;57	ENSP00000355580:V139I;ENSP00000355579:V23I;ENSP00000409626:V57I	ENSP00000355579:V23I	V	+	1	0	KCNK1	231869023	1.000000	0.71417	0.713000	0.30519	0.846000	0.48090	4.768000	0.62293	0.842000	0.35045	0.655000	0.94253	GTC		0.582	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092565.1	NM_002245	
RYR2	6262	broad.mit.edu	37	1	237947838	237947838	+	Missense_Mutation	SNP	G	G	A	rs368599791		TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:237947838G>A	ENST00000366574.2	+	90	13143	c.12826G>A	c.(12826-12828)Gtg>Atg	p.V4276M	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.V4282M|RYR2_ENST00000542537.1_Missense_Mutation_p.V4260M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4276					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.V4274L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAAGATGACCGTGAAGGACAT	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19077	0.0		0.0	False		,,,				2504	0.0					uc001hyl.1																			1	Substitution - Missense(1)	p.V4274L(1)	lung(1)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(12826-12828)Gtg>Atg		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.		G	MET/VAL	0,3756		0,0,1878	67.0	67.0	67.0		12826	-6.6	0.0	1		67	1,8247		0,1,4123	no	missense	RYR2	NM_001035.2	21	0,1,6001	AA,AG,GG		0.0121,0.0,0.0083	benign	4276/4968	237947838	1,12003	1878	4124	6002	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947838G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12826G>A	1.37:g.237947838G>A	ENSP00000355533:p.Val4276Met					RYR2_uc010pya.2_Missense_Mutation_p.V691M	p.V4276M	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		89	12946	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4276					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.12826G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	6.180	0.401334	0.11696	0.0	1.21E-4	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.96856	-4.15;-4.12;-4.14	5.11	-6.59	0.01830	.	0.693333	0.12852	N	0.433874	D	0.90024	0.6885	N	0.21282	0.65	0.52501	D	0.999958	B;B	0.21520	0.057;0.011	B;B	0.17979	0.02;0.003	T	0.64702	-0.6345	10	0.32370	T	0.25	.	13.0341	0.58860	0.7322:0.0:0.1755:0.0923	.	1250;4276	B4DGV4;Q92736	.;RYR2_HUMAN	M	4276;4282;4260;1250	ENSP00000355533:V4276M;ENSP00000353174:V4282M;ENSP00000443798:V4260M	ENSP00000353174:V4282M	V	+	1	0	RYR2	236014461	0.000000	0.05858	0.001000	0.08648	0.685000	0.39939	-0.114000	0.10757	-1.482000	0.01860	-0.794000	0.03295	GTG		0.468	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
NLRP3	114548	broad.mit.edu	37	1	247587842	247587842	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:247587842G>A	ENST00000336119.3	+	3	1843	c.1097G>A	c.(1096-1098)cGg>cAg	p.R366Q	NLRP3_ENST00000348069.2_Missense_Mutation_p.R366Q|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.R366Q|NLRP3_ENST00000366497.2_Missense_Mutation_p.R366Q|NLRP3_ENST00000391827.2_Missense_Mutation_p.R366Q|NLRP3_ENST00000391828.3_Missense_Mutation_p.R366Q	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	366	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GACCATCCTCGGCATGTGGAG	0.547																																						uc001icr.3																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(1096-1098)cGg>cAg		Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.							60.0	63.0	62.0					1																	247587842		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247587842G>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1097G>A	1.37:g.247587842G>A	ENSP00000337383:p.Arg366Gln					NLRP3_uc001ics.3_Missense_Mutation_p.R366Q|NLRP3_uc001icu.3_Missense_Mutation_p.R366Q|NLRP3_uc001icw.3_Missense_Mutation_p.R366Q|NLRP3_uc001icv.3_Missense_Mutation_p.R366Q|NLRP3_uc010pyw.2_Missense_Mutation_p.R364Q|NLRP3_uc001ict.1_Missense_Mutation_p.R364Q	p.R366Q	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		4	1235	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	366			NACHT.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.1097G>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.704790	0.48412	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14	3.84	3.84	0.44239	NACHT nucleoside triphosphatase (1);	0.000000	0.51477	D	0.000088	D	0.84529	0.5492	M	0.68952	2.095	0.09310	N	1	D;D;D;P;P	0.89917	0.981;0.977;1.0;0.939;0.9	P;P;D;P;P	0.80764	0.824;0.727;0.994;0.723;0.67	T	0.74405	-0.3676	10	0.40728	T	0.16	.	11.5521	0.50726	0.0:0.0:1.0:0.0	.	366;366;366;366;366	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	Q	366	ENSP00000375704:R366Q;ENSP00000355453:R366Q;ENSP00000337383:R366Q;ENSP00000294752:R366Q;ENSP00000355452:R366Q;ENSP00000375703:R366Q	ENSP00000337383:R366Q	R	+	2	0	NLRP3	245654465	0.000000	0.05858	0.102000	0.21198	0.486000	0.33341	0.498000	0.22530	2.436000	0.82500	0.563000	0.77884	CGG		0.547	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895	
MYO3A	53904	broad.mit.edu	37	10	26465747	26465747	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr10:26465747C>T	ENST00000265944.5	+	31	4577	c.4411C>T	c.(4411-4413)Cga>Tga	p.R1471*	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1471					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AATTAATAGACGAGTTTCTTC	0.378																																						uc001isn.2																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(4411-4413)Cga>Tga		Homo sapiens myosin IIIA (MYO3A), mRNA.							87.0	83.0	84.0					10																	26465747		2203	4300	6503	SO:0001587	stop_gained	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26465747C>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4411C>T	10.37:g.26465747C>T	ENSP00000265944:p.Arg1471*					MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	p.R1471*	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			30	4771	+			1471					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Nonsense_Mutation	SNP	ENST00000265944.5	37	c.4411C>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	C	43	10.188804	0.99355	.	.	ENSG00000095777	ENST00000265944	.	.	.	5.65	3.81	0.43845	.	0.819014	0.11589	N	0.548954	.	.	.	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.398	0.55397	0.0:0.8096:0.122:0.0684	.	.	.	.	X	1471	.	ENSP00000265944:R1471X	R	+	1	2	MYO3A	26505753	0.235000	0.23794	0.010000	0.14722	0.885000	0.51271	0.952000	0.29149	0.344000	0.23847	-0.810000	0.03169	CGA		0.378	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
OR5D16	390144	broad.mit.edu	37	11	55606359	55606359	+	Silent	SNP	T	T	C	rs571858428		TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr11:55606359T>C	ENST00000378396.1	+	1	132	c.132T>C	c.(130-132)aaT>aaC	p.N44N		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TGGTAGGGAATCTTGGGATGA	0.438																																						uc010rio.2																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(130-132)aaT>aaC		Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.							150.0	144.0	146.0					11																	55606359		2201	4296	6497	SO:0001819	synonymous_variant	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606359T>C	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.132T>C	11.37:g.55606359T>C							p.N44N	NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN			0	132	+		all_epithelial(135;0.208)	44					Q6IF65|Q96RB4	Silent	SNP	ENST00000378396.1	37	c.132T>C	CCDS31512.1																																																																																				0.438	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496	
OR5AR1	219493	broad.mit.edu	37	11	56431688	56431688	+	Missense_Mutation	SNP	A	A	G			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr11:56431688A>G	ENST00000302969.2	+	1	551	c.527A>G	c.(526-528)cAt>cGt	p.H176R		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	176						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(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						ATCATCAATCATTTCTTCTGC	0.488																																						uc010rjm.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						c.(526-528)cAt>cGt		Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.							227.0	200.0	209.0					11																	56431688		2201	4296	6497	SO:0001583	missense	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56431688A>G	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.527A>G	11.37:g.56431688A>G	ENSP00000302639:p.His176Arg					OR8U8_uc001nit.2_Intron	p.H176R	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN			0	527	+			176					Q6IF61	Missense_Mutation	SNP	ENST00000302969.2	37	c.527A>G	CCDS31535.1	.	.	.	.	.	.	.	.	.	.	A	16.15	3.041032	0.55003	.	.	ENSG00000172459	ENST00000302969	T	0.00174	8.62	4.91	3.75	0.43078	GPCR, rhodopsin-like superfamily (1);	0.134335	0.34002	N	0.004350	T	0.00845	0.0028	H	0.96748	3.875	0.29001	N	0.887473	D	0.62365	0.991	D	0.78314	0.991	T	0.04216	-1.0968	10	0.87932	D	0	.	10.258	0.43410	0.8519:0.0:0.0:0.1481	.	176	Q8NGP9	O5AR1_HUMAN	R	176	ENSP00000302639:H176R	ENSP00000302639:H176R	H	+	2	0	OR5AR1	56188264	0.837000	0.29446	0.997000	0.53966	0.948000	0.59901	5.548000	0.67255	0.859000	0.35456	0.467000	0.42956	CAT		0.488	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730	
LRRC32	2615	broad.mit.edu	37	11	76372493	76372493	+	Silent	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr11:76372493C>T	ENST00000407242.2	-	3	386	c.144G>A	c.(142-144)ccG>ccA	p.P48P	LRRC32_ENST00000260061.5_Silent_p.P48P|LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Silent_p.P48P	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	48					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CAGTGTCTGGCGGGAGCACCG	0.622																																						uc001oxq.4																			0				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						c.(142-144)ccG>ccA		Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.							42.0	42.0	42.0					11																	76372493		2200	4291	6491	SO:0001819	synonymous_variant	2615					integral to plasma membrane		g.chr11:76372493C>T	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.144G>A	11.37:g.76372493C>T						LRRC32_uc001oxr.4_Silent_p.P48P|LRRC32_uc010rsf.2_Silent_p.P48P	p.P48P	NM_005512	NP_005503	Q14392	LRC32_HUMAN			2	387	-			48					Q86V06	Silent	SNP	ENST00000407242.2	37	c.144G>A	CCDS8245.1																																																																																				0.622	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512	
Unknown	0	broad.mit.edu	37	12	90902	90902	+	IGR	SNP	C	C	T	rs138004684		TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr12:90902C>T								AC215219.1 (17580 upstream) : AC026369.1 (56149 downstream)																							CACAGGTAGACGAGGACAAGG	0.647																																						uc010scy.2																			0											c.(766-768)gaC>gaT		Homo sapiens WAS protein family homolog 1 pseudogene (LOC100288778), non-coding RNA.																																				SO:0001628	intergenic_variant	100288778							g.chr12:90902C>T																													12.37:g.90902C>T						LOC100288778_uc010scz.2_Non-coding_Transcript|LOC100288778_uc010sdd.2_3'UTR|LOC100288778_uc010sde.2_Silent_p.D256D|LOC100288778_uc010sdf.2_Silent_p.D256D|LOC100288778_uc010sdg.2_Silent_p.D256D|LOC100288778_uc010sdh.2_Non-coding_Transcript	p.D256D							9	1323	+									Silent	SNP		37	c.768C>T																																																																																				0	0.647								
PTPRR	5801	broad.mit.edu	37	12	71078010	71078010	+	Missense_Mutation	SNP	G	G	A	rs150540173		TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr12:71078010G>A	ENST00000283228.2	-	10	1846	c.1394C>T	c.(1393-1395)aCg>aTg	p.T465M	PTPRR_ENST00000378778.1_Missense_Mutation_p.T259M|PTPRR_ENST00000342084.4_Missense_Mutation_p.T353M|PTPRR_ENST00000549308.1_Missense_Mutation_p.T220M|PTPRR_ENST00000440835.2_Missense_Mutation_p.T220M	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	465	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)		GGGGCCCTGCGTGGCAATGAA	0.433																																						uc001swi.2																			0				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						c.(1393-1395)aCg>aTg		Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.		G	MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	105.0	92.0	96.0		1058,776,1394,659	5.7	1.0	12	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	PTPRR	NM_001207015.1,NM_001207016.1,NM_002849.3,NM_130846.2	81,81,81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	353/546,259/452,465/658,220/413	71078010	1,13005	2203	4300	6503	SO:0001583	missense	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71078010G>A	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	ENST00000283228.2:c.1394C>T	12.37:g.71078010G>A	ENSP00000283228:p.Thr465Met					PTPRR_uc001swh.2_Missense_Mutation_p.T220M|PTPRR_uc009zrs.3_Missense_Mutation_p.T259M|PTPRR_uc010stq.2_Missense_Mutation_p.T353M|PTPRR_uc010str.1_Missense_Mutation_p.T314M	p.T465M	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	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)	9	1808	-			465			Tyrosine-protein phosphatase.		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.1394C>T	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849266	0.91277	0.0	1.16E-4	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308	D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33	5.71	5.71	0.89125	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.51477	D	0.000095	D	0.96445	0.8840	H	0.98155	4.16	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97610	1.0129	10	0.87932	D	0	-13.8925	19.4597	0.94912	0.0:0.0:1.0:0.0	.	314;353;259;465	B7Z998;F5GXR7;Q15256-4;Q15256	.;.;.;PTPRR_HUMAN	M	220;465;259;353;220	ENSP00000391750:T220M;ENSP00000283228:T465M;ENSP00000368054:T259M;ENSP00000339605:T353M;ENSP00000446943:T220M	ENSP00000283228:T465M	T	-	2	0	PTPRR	69364277	1.000000	0.71417	0.961000	0.40146	0.983000	0.72400	9.476000	0.97823	2.701000	0.92244	0.563000	0.77884	ACG		0.433	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849	
CHD8	57680	broad.mit.edu	37	14	21897194	21897194	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr14:21897194G>A	ENST00000557364.1	-	3	1407	c.1144C>T	c.(1144-1146)Cag>Tag	p.Q382*	RN7SL650P_ENST00000583681.1_RNA|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Nonsense_Mutation_p.Q103*|CHD8_ENST00000399982.2_Nonsense_Mutation_p.Q382*			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	382	Gln-rich.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCCATTATCTGAGCCTGCTGT	0.517																																						uc001war.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(1144-1146)Cag>Tag		Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.							140.0	144.0	143.0					14																	21897194		2105	4238	6343	SO:0001587	stop_gained	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21897194G>A	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.1144C>T	14.37:g.21897194G>A	ENSP00000451601:p.Gln382*					CHD8_uc001was.2_Nonsense_Mutation_p.Q103*	p.Q382*	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	1	1209	-	all_cancers(95;0.00121)		382			Gln-rich.		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Nonsense_Mutation	SNP	ENST00000557364.1	37	c.1144C>T	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	G	37	6.569169	0.97671	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-14.0764	11.5855	0.50916	0.0818:0.0:0.9182:0.0	.	.	.	.	X	103;382;102;382	.	ENSP00000262707:Q102X	Q	-	1	0	CHD8	20967034	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.492000	0.66893	2.828000	0.97474	0.655000	0.94253	CAG		0.517	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920	
GOLGA8I	283796	broad.mit.edu	37	15	23261850	23261850	+	Missense_Mutation	SNP	C	C	A	rs185065503	byFrequency	TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr15:23261850C>A	ENST00000450802.3	+	12	1060	c.962C>A	c.(961-963)gCg>gAg	p.A321E	RN7SL495P_ENST00000461817.2_RNA	NM_001282468.1|NM_001282472.1|NM_001282484.1|NM_001282490.1|NM_001282493.1|NM_001282494.1	NP_001269397.1|NP_001269401.1|NP_001269413.1|NP_001269419.1|NP_001269422.1|NP_001269423.1	A6NC78	GOG8I_HUMAN	golgin A8 family, member I	321						Golgi apparatus (GO:0005794)|membrane (GO:0016020)		p.A321E(2)									GTGGCAGGAGCGCTCCAGGCC	0.587																																						uc001yvh.1																			2	Substitution - Missense(2)	p.A321E(2)	endometrium(2)	endometrium(1)|lung(2)|prostate(1)	4						c.(718-720)gCg>gAg		Homo sapiens golgin A8 family, member I, pseudogene (GOLGA8IP), non-coding RNA.																																				SO:0001583	missense	283796							g.chr15:23261850C>A	AK093104		15q11.2	2013-01-17	2012-10-05	2012-10-05	ENSG00000153666	ENSG00000277561			26660	other	unknown	"""FLJ35785"""		"""golgi autoantigen, golgin subfamily a, 9 pseudogene"", ""golgin A9, pseudogene"", ""golgin A8 family, member I, pseudogene"""	GOLGA9P, GOLGA8IP			Standard	NR_024074		Approved	FLJ35785	uc001yvh.1	A6NC78	OTTHUMG00000129149	ENST00000450802.3:c.962C>A	15.37:g.23261850C>A	ENSP00000399637:p.Ala321Glu					DQ582939_uc021sfm.1_5'Flank|DQ578838_uc021sfn.1_5'Flank|DQ588973_uc001yvl.3_5'Flank	p.A240E							10	1261	+									Missense_Mutation	SNP	ENST00000450802.3	37	c.719C>A		228	0.1043956043956044	99	0.20121951219512196	40	0.11049723756906077	71	0.12412587412587413	18	0.023746701846965697	.	0.005	-2.120664	0.00346	.	.	ENSG00000153666	ENST00000450802	T	0.21031	2.03	0.83	0.83	0.18854	.	.	.	.	.	T	0.00012	0.0000	.	.	.	.	.	.	B	0.06786	0.001	B	0.06405	0.002	T	0.41270	-0.9518	7	0.05525	T	0.97	.	5.139	0.14950	0.7017:0.2983:0.0:0.0	.	240	Q8NA68	.	E	321	ENSP00000399637:A321E	ENSP00000399637:A321E	A	+	2	0	GOLGA8IP	20813291	0.840000	0.29493	0.007000	0.13788	0.158000	0.22134	0.722000	0.25925	-0.185000	0.10550	-2.399000	0.00225	GCG		0.587	GOLGA8I-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251213.2	NR_024074	
EPB42	2038	broad.mit.edu	37	15	43499515	43499515	+	Silent	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr15:43499515C>T	ENST00000441366.2	-	9	1425	c.1200G>A	c.(1198-1200)gaG>gaA	p.E400E	EPB42_ENST00000300215.3_Silent_p.E430E|EPB42_ENST00000540029.1_Silent_p.E322E|EPB42_ENST00000563128.1_5'Flank	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	400					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		GTGTCCCATCCTCACAGCACT	0.552																																						uc001zrb.4																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1288-1290)gaG>gaA		Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.							123.0	86.0	98.0					15																	43499515		2203	4299	6502	SO:0001819	synonymous_variant	2038				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	g.chr15:43499515C>T	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.1200G>A	15.37:g.43499515C>T						EPB42_uc001zqz.4_Silent_p.E67E|EPB42_uc001zra.4_Silent_p.E400E|EPB42_uc010udm.2_Silent_p.E322E	p.E430E	NM_000119	NP_000110	P16452	EPB42_HUMAN		GBM - Glioblastoma multiforme(94;8.7e-07)	8	1590	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	400					Q4KKX0|Q4VB97	Silent	SNP	ENST00000441366.2	37	c.1290G>A	CCDS45249.1																																																																																				0.552	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119	
CILP	8483	broad.mit.edu	37	15	65489544	65489544	+	Missense_Mutation	SNP	A	A	G			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr15:65489544A>G	ENST00000261883.4	-	9	3246	c.3080T>C	c.(3079-3081)gTc>gCc	p.V1027A		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	1027					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						CTGGGGGATGACCTTCACCAG	0.592																																						uc002aon.2																			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.(3079-3081)gTc>gCc		Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.							111.0	73.0	86.0					15																	65489544		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.chr15:65489544A>G	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.3080T>C	15.37:g.65489544A>G	ENSP00000261883:p.Val1027Ala						p.V1027A	NM_003613	NP_003604	O75339	CILP1_HUMAN			8	3261	-			1027					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.3080T>C	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.918117	0.52546	.	.	ENSG00000138615	ENST00000261883	T	0.09538	2.97	5.54	5.54	0.83059	.	0.317985	0.34223	N	0.004144	T	0.15349	0.0370	M	0.65498	2.005	0.52099	D	0.99994	P	0.41393	0.748	B	0.37451	0.25	T	0.01235	-1.1410	10	0.87932	D	0	-0.2897	14.8642	0.70401	1.0:0.0:0.0:0.0	.	1027	O75339	CILP1_HUMAN	A	1027	ENSP00000261883:V1027A	ENSP00000261883:V1027A	V	-	2	0	CILP	63276597	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.311000	0.96282	2.108000	0.64289	0.533000	0.62120	GTC		0.592	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613	
FAM219B	57184	broad.mit.edu	37	15	75198690	75198690	+	Silent	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr15:75198690C>T	ENST00000357635.5	-	2	551	c.231G>A	c.(229-231)ctG>ctA	p.L77L	FAM219B_ENST00000565772.1_5'UTR|FAM219B_ENST00000563119.1_Silent_p.L77L|FAM219B_ENST00000457294.2_Silent_p.L77L|FAM219B_ENST00000563706.1_5'Flank	NM_020447.3	NP_065180.1	Q5XKK7	F219B_HUMAN	family with sequence similarity 219, member B	77																	CGGCCTTGGCCAGGTCCCGGT	0.657																																						uc002azh.4																			0											c.(229-231)ctG>ctA		Homo sapiens chromosome 15 open reading frame 17 (C15orf17), mRNA.							21.0	20.0	20.0					15																	75198690		2196	4295	6491	SO:0001819	synonymous_variant	57184						cytochrome-c oxidase activity	g.chr15:75198690C>T	AK000005	CCDS32295.1	15q23	2012-03-06	2012-03-06	2012-03-06	ENSG00000178761	ENSG00000178761			24695	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 17"""	C15orf17		11214971	Standard	NM_020447		Approved	FLJ00005	uc002azh.4	Q5XKK7	OTTHUMG00000172715	ENST00000357635.5:c.231G>A	15.37:g.75198690C>T						FAM219B_uc010bkh.3_5'UTR|FAM219B_uc002azf.3_Silent_p.L77L|FAM219B_uc002azg.2_Silent_p.L77L	p.L77L	NM_020447	NP_065180	Q5XKK7	CO017_HUMAN			1	552	-			77					A8K4Q5|B4DK57|Q9NXY0	Silent	SNP	ENST00000357635.5	37	c.231G>A	CCDS32295.1																																																																																				0.657	FAM219B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420165.1	NM_020447	
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						uc002cdi.3																			10	Substitution - Missense(10)	p.G374S(10)	kidney(7)|prostate(2)|endometrium(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						c.(523-525)Ggc>Agc		Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.																																						374666							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A						WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript	p.G175S							8	1943	+									Missense_Mutation	SNP	ENST00000557932.1	37	c.523G>A		.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163	
DNAH2	146754	broad.mit.edu	37	17	7643079	7643079	+	Missense_Mutation	SNP	G	G	A	rs145686578		TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr17:7643079G>A	ENST00000572933.1	+	9	2659	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	DNAH2_ENST00000082259.3_Missense_Mutation_p.R482H|DNAH2_ENST00000389173.2_Missense_Mutation_p.R400H|DNAH2_ENST00000570791.1_Missense_Mutation_p.R482H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	400	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R400H(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CACTTCGCCCGCTGGGAAGAT	0.483																																						uc002giu.1																			1	Substitution - Missense(1)	p.R400H(2)|p.A399V(1)	endometrium(1)	NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(1198-1200)cGc>cAc		Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.		G	HIS/ARG	0,4406		0,0,2203	71.0	65.0	67.0		1199	5.0	1.0	17	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAH2	NM_020877.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	400/4428	7643079	1,13005	2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7643079G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1199G>A	17.37:g.7643079G>A	ENSP00000458355:p.Arg400His					DNAH2_uc002git.3_Missense_Mutation_p.R482H|DNAH2_uc010vuk.2_Missense_Mutation_p.R400H	p.R400H	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			7	1213	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	400			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.1199G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885069	0.91814	0.0	1.16E-4	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.56275	1.77;0.47	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.66177	0.2763	L	0.43152	1.355	0.43683	D	0.996122	D;D	0.89917	1.0;0.978	D;P	0.78314	0.991;0.669	T	0.66135	-0.5999	10	0.54805	T	0.06	.	17.6301	0.88104	0.0:0.0:1.0:0.0	.	400;482	Q9P225;Q9P225-3	DYH2_HUMAN;.	H	400;400;482	ENSP00000373825:R400H;ENSP00000082259:R482H	ENSP00000082259:R482H	R	+	2	0	DNAH2	7583804	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.209000	0.89751	2.779000	0.95612	0.650000	0.86243	CGC		0.483	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
DNAH9	1770	broad.mit.edu	37	17	11650946	11650946	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr17:11650946C>T	ENST00000262442.4	+	32	6541	c.6473C>T	c.(6472-6474)tCa>tTa	p.S2158L	DNAH9_ENST00000454412.2_Missense_Mutation_p.S2158L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2158	AAA 2. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACCGGCAAGTCACAGGTGCTG	0.562																																						uc002gne.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(6472-6474)tCa>tTa		Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.							83.0	76.0	78.0					17																	11650946		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11650946C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.6473C>T	17.37:g.11650946C>T	ENSP00000262442:p.Ser2158Leu					DNAH9_uc010coo.3_Missense_Mutation_p.S1452L	p.S2158L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	31	6541	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2158			AAA 2 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.6473C>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.608047	0.66558	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.45276	0.9;0.9	4.2	4.2	0.49525	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.159795	0.44688	D	0.000428	T	0.71970	0.3403	H	0.94964	3.605	0.80722	D	1	D	0.56521	0.976	P	0.62560	0.904	T	0.82354	-0.0499	10	0.87932	D	0	.	17.116	0.86689	0.0:1.0:0.0:0.0	.	2158	Q9NYC9	DYH9_HUMAN	L	2158;2158;740	ENSP00000262442:S2158L;ENSP00000414874:S2158L	ENSP00000262442:S2158L	S	+	2	0	DNAH9	11591671	1.000000	0.71417	0.990000	0.47175	0.705000	0.40729	0.878000	0.28126	2.346000	0.79739	0.557000	0.71058	TCA		0.562	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833		TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627																																						uc010wfp.2																			1	Substitution - Missense(1)	p.D18V(2)	endometrium(1)	central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(52-54)gAc>gTc		Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.							18.0	22.0	21.0					17																	39261693		692	1590	2282	SO:0001583	missense	100132386					keratin filament		g.chr17:39261693A>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.53A>T	17.37:g.39261693A>T	ENSP00000375234:p.Asp18Val						p.D18V	NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN			0	53	+			18						Missense_Mutation	SNP	ENST00000391415.1	37	c.53A>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	6.082	0.383461	0.11524	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32272	1.46	2.51	0.174	0.15040	.	.	.	.	.	T	0.25865	0.0630	M	0.64404	1.975	0.30580	P	0.762648	B	0.17852	0.024	B	0.14023	0.01	T	0.23154	-1.0196	8	0.45353	T	0.12	.	3.5681	0.07907	0.2702:0.2037:0.5261:0.0	.	18	Q9BYQ8	KRA49_HUMAN	V	18	ENSP00000375234:D18V	ENSP00000334461:D18V	D	+	2	0	KRTAP4-9	36515219	0.000000	0.05858	0.388000	0.26195	0.320000	0.28249	0.098000	0.15189	-0.245000	0.09625	0.155000	0.16302	GAC		0.627	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041	
ITGB3	3690	broad.mit.edu	37	17	45376748	45376748	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr17:45376748C>T	ENST00000559488.1	+	11	1781	c.1765C>T	c.(1765-1767)Cgt>Tgt	p.R589C	ITGB3_ENST00000560629.1_Missense_Mutation_p.A577V|ITGB3_ENST00000435993.2_Missense_Mutation_p.R542C	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	589	Cysteine-rich tandem repeats.				activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	CTGTACCACGCGTACTGACAC	0.607																																						uc002ilj.3																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(1765-1767)Cgt>Tgt		Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	Abciximab(DB00054)|Tirofiban(DB00775)						98.0	87.0	91.0					17																	45376748		2203	4300	6503	SO:0001583	missense	3690				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr17:45376748C>T		CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.1765C>T	17.37:g.45376748C>T	ENSP00000452786:p.Arg589Cys					ITGB3_uc010wkr.1_Non-coding_Transcript	p.R589C	NM_000212	NP_000203	P05106	ITB3_HUMAN			10	1785	+			589			Cysteine-rich tandem repeats.		A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	c.1765C>T	CCDS11511.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996918	0.74818	.	.	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.92805	-3.11	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.90844	0.7124	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	D	0.92383	0.5915	10	0.72032	D	0.01	.	14.4139	0.67135	0.1483:0.8517:0.0:0.0	.	589	P05106	ITB3_HUMAN	C	589;542	ENSP00000407801:R542C	ENSP00000262017:R589C	R	+	1	0	C17orf57	42731747	0.976000	0.34144	0.981000	0.43875	0.480000	0.33159	2.487000	0.45268	2.770000	0.95276	0.555000	0.69702	CGT		0.607	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212	
SPAG9	9043	broad.mit.edu	37	17	49062314	49062314	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr17:49062314C>T	ENST00000262013.7	-	24	3266	c.3058G>A	c.(3058-3060)Ggc>Agc	p.G1020S	SPAG9_ENST00000510283.1_Missense_Mutation_p.G863S|SPAG9_ENST00000505279.1_Missense_Mutation_p.G1010S|SPAG9_ENST00000357122.4_Missense_Mutation_p.G1006S	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1020					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			GCAAGGGTGCCGTCAGCCAGG	0.458																																						uc002itc.3																			0				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(3058-3060)Ggc>Agc		Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 1, mRNA.							198.0	173.0	181.0					17																	49062314		2203	4300	6503	SO:0001583	missense	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49062314C>T	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.3058G>A	17.37:g.49062314C>T	ENSP00000262013:p.Gly1020Ser					SPAG9_uc002itd.3_Missense_Mutation_p.G1010S|SPAG9_uc002itb.3_Missense_Mutation_p.G1006S|SPAG9_uc002ita.3_Missense_Mutation_p.G863S	p.G1020S	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		23	3267	-			1020					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	c.3058G>A	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	C	36	5.970721	0.97156	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000357791;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.67	5.67	0.87782	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.76126	0.3944	M	0.89904	3.07	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;0.999	T	0.79205	-0.1899	10	0.52906	T	0.07	-7.1705	19.7863	0.96440	0.0:1.0:0.0:0.0	.	1010;1020;1006;863	O60271-2;O60271;O60271-4;E7ENU2	.;JIP4_HUMAN;.;.	S	1020;777;767;557;863;1010;1006;618	ENSP00000262013:G1020S;ENSP00000423165:G863S;ENSP00000426900:G1010S;ENSP00000349636:G1006S	ENSP00000262013:G1020S	G	-	1	0	SPAG9	46417313	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.958000	0.70330	2.665000	0.90641	0.655000	0.94253	GGC		0.458	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971	
CD300LB	124599	broad.mit.edu	37	17	72521999	72521999	+	Silent	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr17:72521999C>T	ENST00000392621.1	-	2	373	c.369G>A	c.(367-369)acG>acA	p.T123T	CD300LB_ENST00000314401.3_Silent_p.T123T	NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	86					cellular response to lipopolysaccharide (GO:0071222)|innate immune response (GO:0045087)|neutrophil mediated immunity (GO:0002446)|positive regulation of mast cell activation (GO:0033005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						TCACAGTGAACGTGCGGTCTT	0.517																																						uc002jkx.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						c.(367-369)acG>acA		Homo sapiens CD300 molecule-like family member b (CD300LB), mRNA.							254.0	225.0	235.0					17																	72521999		2203	4300	6503	SO:0001819	synonymous_variant	124599					integral to membrane|plasma membrane	receptor activity	g.chr17:72521999C>T	AF427618	CCDS11700.1, CCDS11700.2	17q25.1	2013-01-11	2006-03-29		ENSG00000178789	ENSG00000178789		"""Immunoglobulin superfamily / V-set domain containing"""	30811	protein-coding gene	gene with protein product	"""triggering receptor expressed on myeloid cells 5"""	610705	"""CD300 antigen like family member B"""			12975309	Standard	NM_174892		Approved	TREM5, CLM7	uc002jkx.2	A8K4G0	OTTHUMG00000067606	ENST00000392621.1:c.369G>A	17.37:g.72521999C>T						CD300LB_uc010wqz.1_Silent_p.T123T	p.T123T	NM_174892	NP_777552	A8K4G0	CLM7_HUMAN			1	382	-			86					Q1EG73|Q8IX40|Q8N6D1	Silent	SNP	ENST00000392621.1	37	c.369G>A	CCDS11700.1																																																																																				0.517	CD300LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145082.2	NM_174892	
EVPL	2125	broad.mit.edu	37	17	74005267	74005267	+	Missense_Mutation	SNP	G	G	A	rs375290979		TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr17:74005267G>A	ENST00000301607.3	-	22	4272	c.4019C>T	c.(4018-4020)gCg>gTg	p.A1340V	EVPL_ENST00000586740.1_Missense_Mutation_p.A1362V	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1340	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTTCTGGGCCGCCTCCCGCAC	0.672																																						uc010wss.1																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(4084-4086)gCg>gTg		Homo sapiens envoplakin (EVPL), mRNA.		G	VAL/ALA	1,4395		0,1,2197	52.0	62.0	59.0		4019	3.4	0.2	17		59	0,8590		0,0,4295	no	missense	EVPL	NM_001988.2	64	0,1,6492	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1340/2034	74005267	1,12985	2198	4295	6493	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74005267G>A	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.4019C>T	17.37:g.74005267G>A	ENSP00000301607:p.Ala1340Val					EVPL_uc002jqi.2_Missense_Mutation_p.A1340V|EVPL_uc010wst.1_Missense_Mutation_p.A810V	p.A1362V	NM_001988	NP_001979	Q92817	EVPL_HUMAN			21	4313	-			1340			Central fibrous rod domain.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.4085C>T	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	G	4.410	0.075867	0.08485	2.27E-4	0.0	ENSG00000167880	ENST00000301607	T	0.46063	0.88	5.41	3.37	0.38596	.	0.112837	0.64402	N	0.000014	T	0.36026	0.0952	M	0.63428	1.95	0.21878	N	0.999497	B;B	0.18968	0.018;0.032	B;B	0.10450	0.004;0.005	T	0.32481	-0.9905	10	0.52906	T	0.07	-34.3352	5.9786	0.19395	0.2233:0.0:0.6408:0.1358	.	1362;1340	B7ZLH8;Q92817	.;EVPL_HUMAN	V	1340	ENSP00000301607:A1340V	ENSP00000301607:A1340V	A	-	2	0	EVPL	71516862	0.957000	0.32711	0.174000	0.22961	0.961000	0.63080	2.473000	0.45145	1.270000	0.44297	0.561000	0.74099	GCG		0.672	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988	
ENGASE	64772	broad.mit.edu	37	17	77073797	77073797	+	Silent	SNP	G	G	T	rs375589820	byFrequency	TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr17:77073797G>T	ENST00000579016.1	+	3	267	c.267G>T	c.(265-267)tcG>tcT	p.S89S	ENGASE_ENST00000539857.2_5'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	89						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						ACTTGTCTTCGCTGGAGGAGC	0.527																																						uc002jwv.3																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						c.(265-267)tcG>tcT		Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.							106.0	110.0	109.0					17																	77073797		1947	4133	6080	SO:0001819	synonymous_variant	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77073797G>T	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"""Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase"", ""Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"""	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.267G>T	17.37:g.77073797G>T						ENGASE_uc002jwu.1_Silent_p.S89S|ENGASE_uc010wtz.1_5'UTR|ENGASE_uc002jww.3_5'Flank	p.S89S	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN			2	275	+			89					Q659F0|Q8TB86|Q9H6U4	Silent	SNP	ENST00000579016.1	37	c.267G>T	CCDS42394.1																																																																																				0.527	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759	
DENND1C	79958	broad.mit.edu	37	19	6479059	6479059	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr19:6479059G>A	ENST00000381480.2	-	5	297	c.185C>T	c.(184-186)cCc>cTc	p.P62L	DENND1C_ENST00000543576.1_Missense_Mutation_p.P18L|DENND1C_ENST00000591030.1_5'UTR	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	62	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GGCGGGGCTGGGGGGCTCCCT	0.632																																						uc002mfe.3																			0				endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						c.(184-186)cCc>cTc		Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.							41.0	51.0	48.0					19																	6479059		1930	4132	6062	SO:0001583	missense	79958					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr19:6479059G>A	AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.185C>T	19.37:g.6479059G>A	ENSP00000370889:p.Pro62Leu					DENND1C_uc002mfb.3_5'Flank|DENND1C_uc002mfc.3_5'Flank|DENND1C_uc002mfd.3_5'UTR|DENND1C_uc010xje.2_Missense_Mutation_p.P18L	p.P62L	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN			4	277	-			62			UDENN.		B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	37	c.185C>T	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250034	0.39797	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.39997	1.05;1.05	5.24	4.12	0.48240	uDENN (3);	0.331840	0.30840	N	0.008778	T	0.27933	0.0688	N	0.19112	0.55	0.38740	D	0.953874	B	0.26577	0.153	B	0.34346	0.18	T	0.08126	-1.0737	10	0.09338	T	0.73	-25.9796	11.764	0.51920	0.0:0.0:0.8121:0.1879	.	62	Q8IV53	DEN1C_HUMAN	L	62;18	ENSP00000370889:P62L;ENSP00000437805:P18L	ENSP00000370889:P62L	P	-	2	0	DENND1C	6430059	0.523000	0.26274	1.000000	0.80357	0.925000	0.55904	1.149000	0.31626	2.459000	0.83118	0.313000	0.20887	CCC		0.632	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898	
MUC16	94025	broad.mit.edu	37	19	9069613	9069613	+	Missense_Mutation	SNP	C	C	T	rs199743326		TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr19:9069613C>T	ENST00000397910.4	-	3	18036	c.17833G>A	c.(17833-17835)Gca>Aca	p.A5945T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5947	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTGATACTGCGGAATAAAGA	0.512																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(17833-17835)Gca>Aca		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							100.0	95.0	96.0					19																	9069613		1960	4139	6099	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9069613C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17833G>A	19.37:g.9069613C>T	ENSP00000381008:p.Ala5945Thr						p.A5945T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	18037	-			5947			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.17833G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	5.734	0.319905	0.10845	.	.	ENSG00000181143	ENST00000397910	T	0.17213	2.29	1.76	-0.803	0.10886	.	.	.	.	.	T	0.03608	0.0103	N	0.00368	-1.59	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.36480	-0.9746	8	0.87932	D	0	.	2.373	0.04335	0.246:0.3866:0.0:0.3674	.	5945	B5ME49	.	T	5945	ENSP00000381008:A5945T	ENSP00000381008:A5945T	A	-	1	0	MUC16	8930613	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.047000	0.03521	-0.791000	0.04486	-0.893000	0.02921	GCA		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
SLC5A7	60482	broad.mit.edu	37	2	108604723	108604723	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr2:108604723C>T	ENST00000264047.2	+	2	388	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C	SLC5A7_ENST00000540517.1_Intron|SLC5A7_ENST00000409059.1_Missense_Mutation_p.R38C	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	38					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)	p.R38G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CGCAGAAGAGCGCAGCGAAGC	0.502																																						uc002tdv.3																			1	Substitution - Missense(1)	p.R38G(2)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(112-114)Cgc>Tgc		Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	Choline(DB00122)						149.0	131.0	137.0					2																	108604723		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108604723C>T	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.112C>T	2.37:g.108604723C>T	ENSP00000264047:p.Arg38Cys					SLC5A7_uc010ywm.2_5'UTR|SLC5A7_uc010fjj.3_Missense_Mutation_p.R38C|SLC5A7_uc010ywn.2_Intron	p.R38C	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			1	388	+			38					Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.112C>T	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.795804	0.90453	.	.	ENSG00000115665	ENST00000409059;ENST00000264047	D;D	0.91124	-2.79;-2.79	5.76	5.76	0.90799	.	0.103999	0.64402	D	0.000002	D	0.91324	0.7264	M	0.65975	2.015	0.80722	D	1	D	0.56746	0.977	P	0.44860	0.462	D	0.91597	0.5292	10	0.56958	D	0.05	-0.3632	20.3242	0.98691	0.0:1.0:0.0:0.0	.	38	Q9GZV3	SC5A7_HUMAN	C	38	ENSP00000387346:R38C;ENSP00000264047:R38C	ENSP00000264047:R38C	R	+	1	0	SLC5A7	107971155	1.000000	0.71417	0.999000	0.59377	0.772000	0.43724	7.445000	0.80570	2.882000	0.98803	0.655000	0.94253	CGC		0.502	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1		
MYO7B	4648	broad.mit.edu	37	2	128366343	128366343	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr2:128366343C>T	ENST00000409816.2	+	21	2736	c.2704C>T	c.(2704-2706)Cgc>Tgc	p.R902C	MYO7B_ENST00000389524.4_Missense_Mutation_p.R902C|MYO7B_ENST00000428314.1_Missense_Mutation_p.R902C			Q6PIF6	MYO7B_HUMAN	myosin VIIB	902						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TGCCAAGAAGCGCAGATCCAT	0.652																																						uc002top.3																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(2704-2706)Cgc>Tgc		Homo sapiens myosin VIIB (MYO7B), mRNA.							38.0	46.0	44.0					2																	128366343		2109	4212	6321	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128366343C>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2704C>T	2.37:g.128366343C>T	ENSP00000386461:p.Arg902Cys						p.R902C	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	21	2757	+	Colorectal(110;0.1)		902					Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.2704C>T	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508986	0.64410	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.88586	-2.39;-2.4;-2.4	5.34	4.46	0.54185	.	0.155439	0.38436	N	0.001692	D	0.91324	0.7264	M	0.71581	2.175	0.43508	D	0.995763	D	0.89917	1.0	P	0.54706	0.759	D	0.91532	0.5243	10	0.66056	D	0.02	.	11.9651	0.53029	0.0:0.9183:0.0:0.0817	.	902	Q6PIF6	MYO7B_HUMAN	C	902	ENSP00000374175:R902C;ENSP00000415090:R902C;ENSP00000386461:R902C	ENSP00000374175:R902C	R	+	1	0	MYO7B	128082813	0.928000	0.31464	0.950000	0.38849	0.417000	0.31264	1.557000	0.36299	1.248000	0.43934	0.462000	0.41574	CGC		0.652	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001	
POTEE	445582	broad.mit.edu	37	2	131976471	131976471	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr2:131976471G>A	ENST00000356920.5	+	1	590	c.496G>A	c.(496-498)Gtg>Atg	p.V166M	POTEE_ENST00000358087.5_Missense_Mutation_p.V166M|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	166					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GGACACTGACGTGAACAAGAA	0.592																																						uc002tsn.2																			0											c.(496-498)Gtg>Atg		Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.							142.0	144.0	144.0					2																	131976471		2202	4299	6501	SO:0001583	missense	445582						ATP binding	g.chr2:131976471G>A	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.496G>A	2.37:g.131976471G>A	ENSP00000439189:p.Val166Met					PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	p.V166M	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			0	548	+			166					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.496G>A	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	6.887	0.533134	0.13188	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.69040	-0.37;0.4	1.05	-2.11	0.07187	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.60130	0.2245	M	0.82323	2.585	0.09310	N	1	D	0.64830	0.994	P	0.45946	0.498	T	0.55256	-0.8169	9	0.10111	T	0.7	.	0.4843	0.00553	0.2242:0.3331:0.2329:0.2098	.	166	Q6S8J3	POTEE_HUMAN	M	166	ENSP00000439189:V166M;ENSP00000443049:V166M	ENSP00000439189:V166M	V	+	1	0	AC131180.1	131692941	0.000000	0.05858	0.000000	0.03702	0.429000	0.31625	-1.874000	0.01636	-1.957000	0.01021	0.162000	0.16502	GTG		0.592	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538	
TTN	7273	broad.mit.edu	37	2	179542438	179542438	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr2:179542438C>T	ENST00000591111.1	-	144	33474	c.33250G>A	c.(33250-33252)Gaa>Aaa	p.E11084K	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E10157K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E11401K			Q8WZ42	TITIN_HUMAN	titin	10214	Glu-rich.|Pro-rich.				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)			TATTCTTCTTCGGGAGGAACT	0.453																																						uc021vsy.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.(30469-30471)Gaa>Aaa		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							95.0	93.0	94.0					2																	179542438		1852	4081	5933	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179542438C>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.33250G>A	2.37:g.179542438C>T	ENSP00000465570:p.Glu11084Lys					TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6818K|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	p.E10157K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		142	30694	-			11084			Glu-rich.		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.30469G>A		.	.	.	.	.	.	.	.	.	.	C	13.90	2.373562	0.42105	.	.	ENSG00000155657	ENST00000342992	T	0.70749	-0.51	3.53	3.53	0.40419	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.57359	0.2048	.	.	.	0.80722	D	1	P	0.47253	0.892	B	0.35240	0.198	T	0.63541	-0.6614	8	0.87932	D	0	.	8.6414	0.33978	0.2278:0.7722:0.0:0.0	.	11084	Q8WZ42	TITIN_HUMAN	K	10157	ENSP00000343764:E10157K	ENSP00000343764:E10157K	E	-	1	0	TTN	179250683	0.860000	0.29831	0.938000	0.37757	0.953000	0.61014	1.881000	0.39638	1.684000	0.51022	0.609000	0.83330	GAA		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179639038	179639038	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr2:179639038C>T	ENST00000591111.1	-	30	7177	c.6953G>A	c.(6952-6954)cGt>cAt	p.R2318H	TTN_ENST00000360870.5_Missense_Mutation_p.R2318H|TTN_ENST00000359218.5_Missense_Mutation_p.R2272H|TTN_ENST00000460472.2_Missense_Mutation_p.R2272H|TTN_ENST00000342175.6_Missense_Mutation_p.R2272H|TTN_ENST00000342992.6_Missense_Mutation_p.R2318H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000610005.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R2318H			Q8WZ42	TITIN_HUMAN	titin	12640	Ig-like 12.				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)			CTGACGTCCACGACGAGATGT	0.403																																						uc021vsy.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.(6952-6954)cGt>cAt		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							176.0	161.0	166.0					2																	179639038		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179639038C>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.6953G>A	2.37:g.179639038C>T	ENSP00000465570:p.Arg2318His					TTN_uc021vsz.1_Missense_Mutation_p.R2272H|TTN_uc021vta.1_Missense_Mutation_p.R2272H|TTN_uc021vtb.1_Missense_Mutation_p.R2272H|TTN_uc002unb.2_Missense_Mutation_p.R2318H|AK123298_uc002unc.1_5'Flank	p.R2318H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		29	7178	-			2318			Ig-like 12.		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.6953G>A		.	.	.	.	.	.	.	.	.	.	C	16.23	3.065125	0.55432	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.6	5.6	0.85130	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56171	0.1967	L	0.29908	0.895	0.39107	D	0.961397	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.60885	-0.7174	9	0.87932	D	0	.	19.6137	0.95619	0.0:1.0:0.0:0.0	.	2272;2272;2272;2318;2318	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	H	2318;2272;2272;2272;2272;2318	ENSP00000343764:R2318H;ENSP00000434586:R2272H;ENSP00000340554:R2272H;ENSP00000352154:R2272H;ENSP00000354117:R2318H	ENSP00000340554:R2272H	R	-	2	0	TTN	179347283	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.818000	0.86416	2.650000	0.89964	0.557000	0.71058	CGT		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
DOCK10	55619	broad.mit.edu	37	2	225670162	225670162	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr2:225670162T>C	ENST00000258390.7	-	35	3966	c.3899A>G	c.(3898-3900)aAt>aGt	p.N1300S	DOCK10_ENST00000409592.3_Missense_Mutation_p.N1294S	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1300					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GCTCTTCTCATTGGTACTTGG	0.423																																						uc010fwz.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(3898-3900)aAt>aGt		Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.							167.0	161.0	163.0					2																	225670162		2092	4221	6313	SO:0001583	missense	55619						GTP binding	g.chr2:225670162T>C	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.3899A>G	2.37:g.225670162T>C	ENSP00000258390:p.Asn1300Ser					DOCK10_uc002vob.2_Missense_Mutation_p.N1294S|DOCK10_uc002voa.2_5'UTR|DOCK10_uc002voc.2_Missense_Mutation_p.N154S	p.N1300S	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	34	4138	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1300					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.3899A>G	CCDS46528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	5.695|5.695	0.312866|0.312866	0.10789|0.10789	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000422684|ENST00000409592;ENST00000258390	.|T;T	.|0.17691	.|2.26;2.26	5.74|5.74	-4.91|-4.91	0.03085|0.03085	.|.	.|0.463048	.|0.26784	.|N	.|0.022508	T|T	0.04588|0.04588	0.0125|0.0125	N|N	0.02674|0.02674	-0.535|-0.535	0.22684|0.22684	N|N	0.998857|0.998857	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.04013	.|0.001;0.0;0.001	T|T	0.34229|0.34229	-0.9837|-0.9837	5|10	.|0.02654	.|T	.|1	.|.	14.3987|14.3987	0.67027|0.67027	0.0:0.0589:0.6544:0.2867|0.0:0.0589:0.6544:0.2867	.|.	.|1300;154;1294	.|Q96BY6;B4DF07;B3FL70	.|DOC10_HUMAN;.;.	V|S	182|1294;1300	.|ENSP00000386694:N1294S;ENSP00000258390:N1300S	.|ENSP00000258390:N1300S	M|N	-|-	1|2	0|0	DOCK10|DOCK10	225378406|225378406	0.989000|0.989000	0.36119|0.36119	0.081000|0.081000	0.20488|0.20488	0.993000|0.993000	0.82548|0.82548	0.542000|0.542000	0.23222|0.23222	-0.731000|-0.731000	0.04862|0.04862	0.459000|0.459000	0.35465|0.35465	ATG|AAT		0.423	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1		
MC3R	4159	broad.mit.edu	37	20	54824818	54824818	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr20:54824818C>T	ENST00000243911.2	+	1	1031	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	307					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)	p.R344C(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CCTGGAATTGCGCAACACCTT	0.517																																						uc002xxb.2																			1	Substitution - Missense(1)	p.R344C(1)	breast(1)	breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26						c.(919-921)Cgc>Tgc		Homo sapiens melanocortin 3 receptor (MC3R), mRNA.							171.0	162.0	165.0					20																	54824818		2203	4300	6503	SO:0001583	missense	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54824818C>T		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.919C>T	20.37:g.54824818C>T	ENSP00000243911:p.Arg307Cys						p.R307C	NM_019888	NP_063941	P41968	MC3R_HUMAN	Colorectal(105;0.202)		0	1031	+			344					Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	c.919C>T	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967174	0.34754	.	.	ENSG00000124089	ENST00000243911	T	0.58358	0.34	5.09	3.06	0.35304	.	0.000000	0.64402	D	0.000014	T	0.80989	0.4730	H	0.97440	4.005	0.54753	D	0.999986	D	0.89917	1.0	D	0.83275	0.996	D	0.85842	0.1398	10	0.87932	D	0	.	13.1951	0.59734	0.4134:0.5866:0.0:0.0	.	344	P41968	MC3R_HUMAN	C	307	ENSP00000243911:R307C	ENSP00000243911:R307C	R	+	1	0	MC3R	54258225	1.000000	0.71417	0.993000	0.49108	0.191000	0.23601	2.103000	0.41806	0.477000	0.27464	0.555000	0.69702	CGC		0.517	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2		
TPTE	7179	broad.mit.edu	37	21	10969096	10969096	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr21:10969096C>T	ENST00000361285.4	-	7	481	c.152G>A	c.(151-153)cGg>cAg	p.R51Q	TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Intron|TPTE_ENST00000298232.7_Intron	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	51					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		AGGTGACACCCGGGCTGCTCC	0.453																																						uc002yip.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(151-153)cGg>cAg		Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.							234.0	220.0	225.0					21																	10969096		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10969096C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.152G>A	21.37:g.10969096C>T	ENSP00000355208:p.Arg51Gln					TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Intron|TPTE_uc002yir.1_Intron|TPTE_uc010gkv.1_Intron	p.R51Q	NM_199261	NP_954870	P56180	TPTE_HUMAN	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)	6	520	-			51					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.152G>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	A	4.078	0.012302	0.07912	.	.	ENSG00000166157	ENST00000361285;ENST00000328758	D	0.94687	-3.49	0.558	-1.12	0.09808	.	0.602094	0.13783	U	0.363084	T	0.81880	0.4916	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.63484	-0.6627	9	0.21540	T	0.41	5.8346	.	.	.	.	51	P56180	TPTE_HUMAN	Q	51;33	ENSP00000355208:R51Q	ENSP00000399471:R33Q	R	-	2	0	TPTE	9990967	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.181000	0.01257	-2.672000	0.00413	-2.396000	0.00226	CGG		0.453	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		
TSPEAR	54084	broad.mit.edu	37	21	45948429	45948429	+	Silent	SNP	C	C	T	rs371022077		TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr21:45948429C>T	ENST00000323084.4	-	6	893	c.828G>A	c.(826-828)ccG>ccA	p.P276P	TSPEAR_ENST00000397916.1_Silent_p.P208P	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	276	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CCTCGGTACACGGTGGCTGGG	0.577																																						uc002zfe.1																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						c.(826-828)ccG>ccA		Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.		C		1,4405	2.1+/-5.4	0,1,2202	126.0	103.0	111.0		828	-10.2	0.0	21		111	0,8600		0,0,4300	no	coding-synonymous	TSPEAR	NM_144991.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		276/670	45948429	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45948429C>T	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.828G>A	21.37:g.45948429C>T						TSPEAR_uc010gpv.1_Silent_p.P208P	p.P276P	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN			5	894	-			276						Silent	SNP	ENST00000323084.4	37	c.828G>A	CCDS13712.1																																																																																				0.577	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991	
MYO18B	84700	broad.mit.edu	37	22	26228907	26228907	+	Missense_Mutation	SNP	C	C	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr22:26228907C>A	ENST00000407587.2	+	16	3172	c.3003C>A	c.(3001-3003)gaC>gaA	p.D1001E	MYO18B_ENST00000536101.1_Missense_Mutation_p.D1001E|MYO18B_ENST00000335473.7_Missense_Mutation_p.D1001E			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1001	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGCAGTTTGACCTCCCGGACC	0.507																																						uc003abz.1																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(3001-3003)gaC>gaA		Homo sapiens myosin XVIIIB (MYO18B), mRNA.							87.0	89.0	88.0					22																	26228907		1884	4092	5976	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26228907C>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.3003C>A	22.37:g.26228907C>A	ENSP00000386096:p.Asp1001Glu					MYO18B_uc003aca.1_Missense_Mutation_p.D882E|MYO18B_uc010guy.1_Missense_Mutation_p.D882E|MYO18B_uc010guz.1_Missense_Mutation_p.D882E|MYO18B_uc011aka.1_Missense_Mutation_p.D155E|MYO18B_uc011akb.1_Missense_Mutation_p.D514E	p.D1001E	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			15	3253	+			1001			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.3003C>A		.	.	.	.	.	.	.	.	.	.	C	15.56	2.869542	0.51588	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86956	-2.19;-2.19;-2.19	4.76	0.0386	0.14201	Myosin head, motor domain (2);	0.058075	0.64402	D	0.000002	D	0.85097	0.5619	L	0.31526	0.94	0.35155	D	0.770147	D;D;D;D	0.89917	0.957;0.966;1.0;0.957	P;P;D;P	0.83275	0.514;0.731;0.996;0.611	T	0.81720	-0.0804	10	0.18276	T	0.48	.	6.7431	0.23447	0.0:0.4373:0.0:0.5627	.	514;1001;1001;1001	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	E	1001	ENSP00000441229:D1001E;ENSP00000334563:D1001E;ENSP00000386096:D1001E	ENSP00000334563:D1001E	D	+	3	2	MYO18B	24558907	0.531000	0.26338	0.995000	0.50966	0.627000	0.37826	-0.706000	0.05047	0.230000	0.21059	0.563000	0.77884	GAC		0.507	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608	
KCNJ4	3761	broad.mit.edu	37	22	38823844	38823844	+	Silent	SNP	G	G	C			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr22:38823844G>C	ENST00000303592.3	-	2	552	c.294C>G	c.(292-294)ggC>ggG	p.G98G	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	98	Val/Gly/Ala/Pro stretch.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					ccgccgccgggccccccgccg	0.682																																						uc003avs.1																			0				endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(292-294)ggC>ggG		Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA.							21.0	20.0	20.0					22																	38823844		2199	4294	6493	SO:0001819	synonymous_variant	3761				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding	g.chr22:38823844G>C	U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.294C>G	22.37:g.38823844G>C						KCNJ4_uc003avt.1_Silent_p.G98G|KCNJ4_uc021wpp.1_Silent_p.G98G	p.G98G	NM_004981	NP_690607	P48050	IRK4_HUMAN			1	391	-	Melanoma(58;0.0286)		98			Val/Gly/Ala/Pro stretch.		Q14D44	Silent	SNP	ENST00000303592.3	37	c.294C>G	CCDS13971.1																																																																																				0.682	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981	
UBA7	7318	broad.mit.edu	37	3	49849871	49849871	+	Missense_Mutation	SNP	C	C	T	rs201219751		TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr3:49849871C>T	ENST00000333486.3	-	6	822	c.664G>A	c.(664-666)Gac>Aac	p.D222N	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	222	2 approximate repeats.				cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGATCACAGTCGTTGAGCTCA	0.567																																						uc003cxr.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33						c.(664-666)Gac>Aac		Homo sapiens ubiquitin-like modifier activating enzyme 7 (UBA7), mRNA.							85.0	81.0	82.0					3																	49849871		2203	4300	6503	SO:0001583	missense	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49849871C>T	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.664G>A	3.37:g.49849871C>T	ENSP00000333266:p.Asp222Asn						p.D222N	NM_003335	NP_003326	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	5	835	-			222			2 approximate repeats.		Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	c.664G>A	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369654	0.42003	.	.	ENSG00000182179	ENST00000333486	T	0.57752	0.38	5.44	3.61	0.41365	Molybdenum cofactor biosynthesis, MoeB (1);	0.366291	0.34002	N	0.004357	T	0.35566	0.0936	N	0.25957	0.775	0.24205	N	0.995494	B	0.18310	0.027	B	0.10450	0.005	T	0.17715	-1.0360	10	0.32370	T	0.25	-1.2315	8.0776	0.30726	0.0:0.7163:0.1324:0.1514	.	222	P41226	UBA7_HUMAN	N	222	ENSP00000333266:D222N	ENSP00000333266:D222N	D	-	1	0	UBA7	49824875	0.000000	0.05858	0.042000	0.18584	0.022000	0.10575	0.233000	0.17911	0.741000	0.32674	0.561000	0.74099	GAC		0.567	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335	
EPHB1	2047	broad.mit.edu	37	3	134851749	134851749	+	Silent	SNP	C	C	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr3:134851749C>A	ENST00000398015.3	+	5	1525	c.1155C>A	c.(1153-1155)ggC>ggA	p.G385G	EPHB1_ENST00000493838.1_De_novo_Start_InFrame	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	385	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			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						GGCAGCTGGGCCTGACGGAGT	0.597																																						uc003eqt.3																			0		p.G385V(1)		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.(1153-1155)ggC>ggA		Homo sapiens EPH receptor B1 (EPHB1), mRNA.							42.0	48.0	46.0					3																	134851749		2198	4295	6493	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134851749C>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.1155C>A	3.37:g.134851749C>A						EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_3'UTR|EPHB1_uc003equ.3_5'UTR	p.G385G	NM_004441	NP_004432	P54762	EPHB1_HUMAN			4	1530	+			385			Fibronectin type-III 1.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.1155C>A	CCDS46921.1																																																																																				0.597	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441	
HTR3E	285242	broad.mit.edu	37	3	183824082	183824082	+	Silent	SNP	G	G	A	rs374233648		TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr3:183824082G>A	ENST00000415389.2	+	8	1558	c.1092G>A	c.(1090-1092)gcG>gcA	p.A364A	HTR3E_ENST00000440596.2_Silent_p.A390A|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000436361.2_Silent_p.A364A|HTR3E_ENST00000335304.2_Silent_p.A379A|HTR3E_ENST00000425359.2_Silent_p.A349A	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	364					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)	p.A379A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	GTCCCACTGCGCCCCAGAAGG	0.667																																					Melanoma(7;227 727 6634 44770)	uc010hxr.3																			1	Substitution - coding silent(1)	p.A379A(1)|p.T390N(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40						c.(1168-1170)gcG>gcA		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	29.0	33.0	31.0		1137	-6.4	0.0	3		31	0,8600		0,0,4300	no	coding-synonymous	HTR3E	NM_182589.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		379/472	183824082	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	285242					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183824082G>A	AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.1092G>A	3.37:g.183824082G>A						HTR3E_uc010hxq.3_Silent_p.A364A|HTR3E_uc003fml.4_Silent_p.A349A|HTR3E_uc003fmm.3_Silent_p.A379A|HTR3E_uc003fmn.3_Silent_p.A364A	p.A390A	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		5	1364	+	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		364					A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Silent	SNP	ENST00000415389.2	37	c.1170G>A	CCDS58868.1																																																																																				0.667	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589	
DGKG	1608	broad.mit.edu	37	3	185975697	185975697	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr3:185975697G>A	ENST00000265022.3	-	17	1995	c.1456C>T	c.(1456-1458)Cgt>Tgt	p.R486C	DGKG_ENST00000382164.4_Missense_Mutation_p.R447C|DGKG_ENST00000544847.1_Missense_Mutation_p.R427C|DGKG_ENST00000344484.4_Missense_Mutation_p.R461C	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	486	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GCCAAAACACGGAAGTCTGGA	0.463																																						uc003fqa.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42						c.(1456-1458)Cgt>Tgt		Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	Phosphatidylserine(DB00144)						116.0	105.0	109.0					3																	185975697		2203	4300	6503	SO:0001583	missense	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:185975697G>A	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1456C>T	3.37:g.185975697G>A	ENSP00000265022:p.Arg486Cys					DGKG_uc003fqb.3_Missense_Mutation_p.R447C|DGKG_uc003fqc.3_Missense_Mutation_p.R461C|DGKG_uc011brx.2_Missense_Mutation_p.R427C	p.R486C	NM_001346	NP_001337	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	16	1993	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		486			DAGKc.		B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	c.1456C>T	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514140	0.85389	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691	T;T;T;T	0.45668	0.89;0.9;0.89;0.89	5.33	5.33	0.75918	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.68403	0.2997	M	0.89478	3.035	0.80722	D	1	D;D;D;D	0.89917	0.987;0.995;0.973;1.0	P;P;P;D	0.77004	0.784;0.908;0.532;0.989	T	0.73534	-0.3952	10	0.72032	D	0.01	.	12.9633	0.58470	0.0:0.0:0.8381:0.1619	.	427;461;447;486	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	C	486;461;447;427;450	ENSP00000265022:R486C;ENSP00000339777:R461C;ENSP00000371599:R447C;ENSP00000440507:R427C	ENSP00000265022:R486C	R	-	1	0	DGKG	187458391	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.311000	0.65786	2.775000	0.95449	0.655000	0.94253	CGT		0.463	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3		
BDH1	622	broad.mit.edu	37	3	197238913	197238913	+	Silent	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr3:197238913C>T	ENST00000392378.2	-	7	1195	c.885G>A	c.(883-885)acG>acA	p.T295T	BDH1_ENST00000358186.2_Silent_p.T295T|BDH1_ENST00000441275.1_Silent_p.T208T|BDH1_ENST00000392379.1_Silent_p.T295T	NM_004051.4	NP_004042.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	295					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|response to cadmium ion (GO:0046686)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to growth hormone (GO:0060416)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|phospholipid binding (GO:0005543)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)		TGACAGGGGACGTGTCTGTGG	0.577																																						uc003fxr.3																			0				endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						c.(883-885)acG>acA		Homo sapiens 3-hydroxybutyrate dehydrogenase, type 1 (BDH1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	NADH(DB00157)						202.0	168.0	180.0					3																	197238913		2203	4300	6503	SO:0001819	synonymous_variant	622				cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity	g.chr3:197238913C>T	M93107	CCDS3328.1	3q29	2011-09-14	2005-11-15	2005-11-15	ENSG00000161267	ENSG00000161267	1.1.1.30	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	1027	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 1"""	603063	"""3-hydroxybutyrate dehydrogenase (heart, mitochondrial)"""	BDH		1639787, 19027726	Standard	XM_005269352		Approved	SDR9C1	uc003fxs.3	Q02338	OTTHUMG00000155478	ENST00000392378.2:c.885G>A	3.37:g.197238913C>T						BDH1_uc003fxs.3_Silent_p.T295T|BDH1_uc003fxu.3_Silent_p.T295T	p.T295T	NM_203314	NP_976060	Q02338	BDH_HUMAN	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	7	1287	-	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	295					D3DXC0|Q96ET1|Q9BRZ4	Silent	SNP	ENST00000392378.2	37	c.885G>A	CCDS3328.1																																																																																				0.577	BDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340267.1	NM_004051	
AMBN	258	broad.mit.edu	37	4	71472354	71472354	+	Silent	SNP	G	G	A	rs570826995		TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr4:71472354G>A	ENST00000322937.6	+	13	1354	c.1251G>A	c.(1249-1251)acG>acA	p.T417T	AMBN_ENST00000449493.2_Silent_p.T402T	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	417					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TGGATACCACGATGGCCCCAA	0.512													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19423	0.0		0.0	False		,,,				2504	0.0					uc003hfl.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29						c.(1249-1251)acG>acA		Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.							61.0	65.0	64.0					4																	71472354		2203	4300	6503	SO:0001819	synonymous_variant	258				bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	g.chr4:71472354G>A	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"""ameloblastin, enamel matrix protein"""			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.1251G>A	4.37:g.71472354G>A							p.T417T	NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Lung(101;0.235)		12	1352	+			417					Q3B862|Q9H2X1|Q9H4L1	Silent	SNP	ENST00000322937.6	37	c.1251G>A	CCDS3543.1																																																																																				0.512	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519	
IRX1	79192	broad.mit.edu	37	5	3600344	3600344	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr5:3600344G>A	ENST00000302006.3	+	2	1334	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	428					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TGGAGACAAGGCCTCGGTCCG	0.697																																						uc003jde.3																			0				biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(1282-1284)Gcc>Acc		Homo sapiens iroquois homeobox 1 (IRX1), mRNA.							16.0	20.0	19.0					5																	3600344		2201	4298	6499	SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3600344G>A	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.1282G>A	5.37:g.3600344G>A	ENSP00000305244:p.Ala428Thr						p.A428T	NM_024337	NP_077313	P78414	IRX1_HUMAN			1	1334	+			428					Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.1282G>A	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	G	4.913	0.169654	0.09339	.	.	ENSG00000170549	ENST00000302006	T	0.58797	0.31	4.24	3.29	0.37713	.	0.937373	0.08974	N	0.866772	T	0.27933	0.0688	N	0.02011	-0.69	0.34633	D	0.719803	B	0.11235	0.004	B	0.10450	0.005	T	0.37126	-0.9719	10	0.12430	T	0.62	.	7.6959	0.28594	0.0966:0.2866:0.6168:0.0	.	428	P78414	IRX1_HUMAN	T	428	ENSP00000305244:A428T	ENSP00000305244:A428T	A	+	1	0	IRX1	3653344	1.000000	0.71417	1.000000	0.80357	0.262000	0.26303	2.268000	0.43338	1.863000	0.54032	0.467000	0.42956	GCC		0.697	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337	
CMYA5	202333	broad.mit.edu	37	5	79026546	79026546	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr5:79026546T>C	ENST00000446378.2	+	2	1989	c.1958T>C	c.(1957-1959)cTc>cCc	p.L653P		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	653					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAGAGCTCTCTCTCACCATCC	0.458																																						uc003kgc.3																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(1957-1959)cTc>cCc		Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.							55.0	55.0	55.0					5																	79026546		1945	4142	6087	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79026546T>C	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.1958T>C	5.37:g.79026546T>C	ENSP00000394770:p.Leu653Pro						p.L653P	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	1	2030	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	653					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.1958T>C	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	T	10.78	1.446927	0.25987	.	.	ENSG00000164309	ENST00000446378	T	0.51325	0.71	5.73	2.01	0.26516	.	1.390050	0.04697	N	0.415135	T	0.49184	0.1542	M	0.78801	2.425	0.09310	N	1	B	0.18741	0.03	B	0.14578	0.011	T	0.42396	-0.9454	10	0.72032	D	0.01	.	4.1236	0.10116	0.1424:0.2418:0.0:0.6158	.	653	Q8N3K9	CMYA5_HUMAN	P	653	ENSP00000394770:L653P	ENSP00000394770:L653P	L	+	2	0	CMYA5	79062302	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	0.241000	0.18065	0.461000	0.27071	0.533000	0.62120	CTC		0.458	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
ABLIM3	22885	broad.mit.edu	37	5	148617052	148617052	+	Silent	SNP	G	G	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr5:148617052G>T	ENST00000506113.1	+	10	1412	c.930G>T	c.(928-930)gcG>gcT	p.A310A	AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000309868.7_Silent_p.A310A|ABLIM3_ENST00000504238.1_Intron|ABLIM3_ENST00000508983.1_Silent_p.A310A|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000326685.7_Intron|ABLIM3_ENST00000519549.1_3'UTR|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000356541.3_Intron			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	310					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGACCTGGCGGCTCTCCCCA	0.468																																						uc003lpy.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(928-930)gcG>gcT		Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.							112.0	117.0	115.0					5																	148617052		2203	4300	6503	SO:0001819	synonymous_variant	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148617052G>T	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.930G>T	5.37:g.148617052G>T						ABLIM3_uc003lpz.1_Silent_p.A310A|ABLIM3_uc003lqa.1_Intron|ABLIM3_uc003lqb.3_Intron|ABLIM3_uc003lqc.1_Silent_p.A310A|ABLIM3_uc003lqd.1_Intron|ABLIM3_uc003lqe.1_Intron|ABLIM3_uc003lqf.3_Intron	p.A310A	NM_014945	NP_055760	O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		10	1181	+			310					A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Silent	SNP	ENST00000506113.1	37	c.930G>T	CCDS4294.1																																																																																				0.468	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945	
SLIT3	6586	broad.mit.edu	37	5	168620553	168620553	+	Splice_Site	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr5:168620553G>A	ENST00000519560.1	-	4	762	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	SLIT3_ENST00000332966.8_Splice_Site_p.R115C|SLIT3_ENST00000521130.1_5'UTR|SLIT3_ENST00000404867.3_Splice_Site_p.R115C	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	115					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.R115C(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGTTCAGGCGCCTAAAGAGG	0.438																																					Ovarian(29;311 847 10864 17279 24903)	uc010jjg.3																			1	Substitution - Missense(1)	p.R115C(1)	large_intestine(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.e4-1		Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.							115.0	109.0	111.0					5																	168620553		2203	4300	6503	SO:0001630	splice_region_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168620553G>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.342-1C>T	5.37:g.168620553G>A						SLIT3_uc003mab.3_Splice_Site_p.L114_splice|SLIT3_uc010jji.2_Splice_Site_p.L114_splice	p.L114_splice	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	762	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	114					A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.342_splice	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416299	0.83449	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.25085	1.82;1.82;1.82	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000002	T	0.47116	0.1428	L	0.50919	1.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.988;0.996	T	0.39078	-0.9631	10	0.87932	D	0	.	17.0755	0.86585	0.0:0.0:1.0:0.0	.	115;115	O75094-2;O75094	.;SLIT3_HUMAN	C	115	ENSP00000430333:R115C;ENSP00000332164:R115C;ENSP00000384890:R115C	ENSP00000332164:R115C	R	-	1	0	SLIT3	168553131	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.347000	0.73004	2.705000	0.92388	0.655000	0.94253	CGC		0.438	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062	Missense_Mutation
MDC1	9656	broad.mit.edu	37	6	30682871	30682871	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr6:30682871C>T	ENST00000376406.3	-	2	729	c.82G>A	c.(82-84)Gtg>Atg	p.V28M	MDC1_ENST00000376405.2_Missense_Mutation_p.V28M|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	28	Interaction with CHEK2.|Interaction with the MRN complex.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						ACTGGCTCCACGTTACACCTC	0.458								Other conserved DNA damage response genes																														uc003nrg.4																			0				breast(2)|kidney(1)|ovary(1)	4						c.(82-84)Gtg>Atg	Other conserved DNA damage response genes	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.							164.0	142.0	150.0					6																	30682871		2203	4300	6503	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30682871C>T	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.82G>A	6.37:g.30682871C>T	ENSP00000365588:p.Val28Met					MDC1_uc003nrf.4_5'Flank|MDC1_uc011dmp.1_5'UTR|MDC1_uc003nrh.1_5'UTR|MDC1_uc003nri.2_Missense_Mutation_p.V28M	p.V28M	NM_014641	NP_055456	Q14676	MDC1_HUMAN			1	522	-			28			Interaction with CHEK2.|Interaction with the MRN complex.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.82G>A	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	C	4.012	-0.000317	0.07819	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000435797;ENST00000452213;ENST00000416571;ENST00000425072;ENST00000422266	T;T	0.03181	4.1;4.02	5.22	-5.83	0.02325	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	.	.	.	.	T	0.00580	0.0019	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48614	-0.9020	9	0.37606	T	0.19	0.0609	2.2856	0.04125	0.2644:0.3844:0.2357:0.1155	.	28	Q14676	MDC1_HUMAN	M	28	ENSP00000365588:V28M;ENSP00000365587:V28M	ENSP00000365587:V28M	V	-	1	0	MDC1	30790850	0.001000	0.12720	0.005000	0.12908	0.002000	0.02628	-0.615000	0.05597	-0.564000	0.06070	-1.096000	0.02151	GTG		0.458	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641	
IER3	8870	broad.mit.edu	37	6	30711832	30711832	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr6:30711832C>T	ENST00000259874.5	-	2	387	c.352G>A	c.(352-354)Gca>Aca	p.A118T	FLOT1_ENST00000470643.1_5'Flank|IER3_ENST00000376377.2_3'UTR|FLOT1_ENST00000376389.3_5'Flank|XXbac-BPG252P9.10_ENST00000607333.1_RNA|FLOT1_ENST00000456573.2_5'Flank	NM_003897.3	NP_003888.2	P46695	IEX1_HUMAN	immediate early response 3	118					anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glycolytic process (GO:0045820)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|negative regulation of systemic arterial blood pressure (GO:0003085)|positive regulation of protein catabolic process (GO:0045732)|regulation of DNA repair (GO:0006282)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of response to DNA damage stimulus (GO:2001020)|response to protozoan (GO:0001562)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)	1						GCCAGGGATGCGGCGTTAGGG	0.627																																						uc003nrn.3																			0				NS(1)	1						c.(352-354)Gca>Aca		Homo sapiens immediate early response 3 (IER3), mRNA.							35.0	39.0	38.0					6																	30711832		2203	4300	6503	SO:0001583	missense	8870				anatomical structure morphogenesis|anti-apoptosis|apoptosis	integral to membrane	protein binding	g.chr6:30711832C>T	AF083421	CCDS4689.1	6p21.3	2010-02-17			ENSG00000137331	ENSG00000137331			5392	protein-coding gene	gene with protein product		602996				8603392, 9703517	Standard	NM_003897		Approved	IEX-1, DIF-2, PRG1, IEX-1L	uc003nrn.3	P46695	OTTHUMG00000031265	ENST00000259874.5:c.352G>A	6.37:g.30711832C>T	ENSP00000259874:p.Ala118Thr					FLOT1_uc003nrm.3_5'Flank|FLOT1_uc011dmr.2_5'Flank	p.A118T	NM_003897	NP_003888	P46695	IEX1_HUMAN			1	384	-			118					Q5SU30|Q92691|Q93044	Missense_Mutation	SNP	ENST00000259874.5	37	c.352G>A	CCDS4689.1	.	.	.	.	.	.	.	.	.	.	C	7.163	0.586014	0.13749	.	.	ENSG00000137331	ENST00000259874;ENST00000376382	T	0.44482	0.92	3.4	0.461	0.16689	.	0.725547	0.11683	N	0.539595	T	0.09113	0.0225	L	0.36672	1.1	0.09310	N	0.999992	B	0.30482	0.281	B	0.21917	0.037	T	0.24404	-1.0161	10	0.25751	T	0.34	.	2.1308	0.03749	0.1916:0.4842:0.2075:0.1167	.	118	P46695	IEX1_HUMAN	T	118;154	ENSP00000259874:A118T	ENSP00000259874:A118T	A	-	1	0	IER3	30819811	0.000000	0.05858	0.001000	0.08648	0.091000	0.18340	0.099000	0.15210	0.071000	0.16664	0.456000	0.33151	GCA		0.627	IER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076578.2		
BBS9	27241	broad.mit.edu	37	7	33397475	33397475	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr7:33397475C>T	ENST00000242067.6	+	16	2082	c.1561C>T	c.(1561-1563)Cga>Tga	p.R521*	BBS9_ENST00000355070.2_Nonsense_Mutation_p.R516*|BBS9_ENST00000354265.4_Nonsense_Mutation_p.R486*|BBS9_ENST00000350941.3_Nonsense_Mutation_p.R481*|BBS9_ENST00000396127.2_Nonsense_Mutation_p.R486*	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	521			R -> Q (in dbSNP:rs34218557).		cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			AGGCATTCCGCGAGTTATCCA	0.323									Bardet-Biedl syndrome																													uc003tdn.1																		BBS9/PKD1L1(2)	0		p.R521Q(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50						c.(1561-1563)Cga>Tga		Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA.							94.0	102.0	99.0					7																	33397475		2203	4299	6502	SO:0001587	stop_gained	27241	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33397475C>T		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.1561C>T	7.37:g.33397475C>T	ENSP00000242067:p.Arg521*					BBS9_uc003tdo.1_Nonsense_Mutation_p.R486*|BBS9_uc003tdp.1_Nonsense_Mutation_p.R516*|BBS9_uc003tdq.1_Nonsense_Mutation_p.R481*|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc003tdr.1_Nonsense_Mutation_p.R45*|BBS9_uc003tds.1_5'UTR|BBS9_uc011kao.1_Nonsense_Mutation_p.R399*	p.R521*	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		15	2074	+			521		R -> Q (in dbSNP:rs34218557).			E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Nonsense_Mutation	SNP	ENST00000242067.6	37	c.1561C>T	CCDS43566.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	10.807248|10.807248	0.99470|0.99470	.|.	.|.	ENSG00000122507|ENSG00000122507	ENST00000434373|ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132	.|.	.|.	.|.	5.94|5.94	4.1|4.1	0.47936|0.47936	.|.	.|0.128329	.|0.49305	.|D	.|0.000159	T|.	0.42200|.	0.1192|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.24941|.	-1.0146|.	4|.	.|0.02654	.|T	.|1	-16.6125|-16.6125	14.6331|14.6331	0.68671|0.68671	0.4657:0.5343:0.0:0.0|0.4657:0.5343:0.0:0.0	.|.	.|.	.|.	.|.	V|X	87|521;481;486;516;486;521	.|.	.|ENSP00000242067:R521X	A|R	+|+	2|1	0|2	BBS9|BBS9	33364000|33364000	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.987000|0.987000	0.75469|0.75469	1.220000|1.220000	0.32491|0.32491	0.803000|0.803000	0.34113|0.34113	-0.294000|-0.294000	0.09567|0.09567	GCG|CGA		0.323	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1		
PCLO	27445	broad.mit.edu	37	7	82584801	82584801	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr7:82584801G>A	ENST00000333891.9	-	5	5805	c.5468C>T	c.(5467-5469)cCa>cTa	p.P1823L	PCLO_ENST00000423517.2_Missense_Mutation_p.P1823L	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGTGTCTTTGGCCTTTCCCT	0.423																																						uc003uhx.2																			0		p.R1822M(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(5467-5469)cCa>cTa		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							256.0	236.0	243.0					7																	82584801		1875	4107	5982	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82584801G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5468C>T	7.37:g.82584801G>A	ENSP00000334319:p.Pro1823Leu					PCLO_uc003uhv.2_Missense_Mutation_p.P1823L	p.P1823L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			4	5757	-			1754						Missense_Mutation	SNP	ENST00000333891.9	37	c.5468C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.416433	0.25552	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.19394	2.15;2.16	5.33	5.33	0.75918	.	.	.	.	.	T	0.30916	0.0780	N	0.14661	0.345	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.66351	0.943;0.943	T	0.27502	-1.0072	9	0.87932	D	0	.	19.012	0.92877	0.0:0.0:1.0:0.0	.	1823;1823	Q9Y6V0-5;Q9Y6V0-6	.;.	L	1754;1823;1823	ENSP00000334319:P1823L;ENSP00000388393:P1823L	ENSP00000334319:P1823L	P	-	2	0	PCLO	82422737	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.208000	0.65203	2.502000	0.84385	0.655000	0.94253	CCA		0.423	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
DMTF1	9988	broad.mit.edu	37	7	86815172	86815172	+	Silent	SNP	A	A	G			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr7:86815172A>G	ENST00000394703.5	+	14	1640	c.1077A>G	c.(1075-1077)gaA>gaG	p.E359E	DMTF1_ENST00000414194.2_Silent_p.E93E|DMTF1_ENST00000432937.2_Silent_p.E271E|DMTF1_ENST00000331242.7_Silent_p.E359E|DMTF1_ENST00000413276.2_Silent_p.E359E	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	359	Interaction with CCND1, CCND2 and CCND3. {ECO:0000250}.|Myb-like 2. {ECO:0000255|PROSITE- ProRule:PRU00133}.|Required for DNA-binding. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					TAGCTGATGAAAATGACATTA	0.398																																						uc003uih.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16						c.(1075-1077)gaA>gaG		Homo sapiens cyclin D binding myb-like transcription factor 1 (DMTF1), transcript variant 2, mRNA.							241.0	216.0	224.0					7																	86815172		2203	4300	6503	SO:0001819	synonymous_variant	9988				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:86815172A>G	AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"""cyclin D-binding Myb-like protein"""	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.1077A>G	7.37:g.86815172A>G						DMTF1_uc003uii.3_Silent_p.E93E|DMTF1_uc003uij.3_Silent_p.E93E|DMTF1_uc011khb.2_Silent_p.E271E|DMTF1_uc003uik.3_Non-coding_Transcript|DMTF1_uc003uil.3_Silent_p.E359E|DMTF1_uc003uin.3_Silent_p.E93E	p.E359E	NM_001142327	NP_001135798	Q9Y222	DMTF1_HUMAN			11	1403	+	Esophageal squamous(14;0.0058)		359			Interaction with CCND1, CCND2 and CCND3 (By similarity).|Myb-like 2.|Required for DNA-binding (By similarity).		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Silent	SNP	ENST00000394703.5	37	c.1077A>G	CCDS5601.1																																																																																				0.398	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145	
CNTNAP2	26047	broad.mit.edu	37	7	146997320	146997320	+	Missense_Mutation	SNP	C	C	T	rs367642984		TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr7:146997320C>T	ENST00000361727.3	+	9	1952	c.1436C>T	c.(1435-1437)gCa>gTa	p.A479V		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	479	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGAGATGAAGCATCAGCAGTT	0.428										HNSCC(39;0.1)																												uc003weu.2																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(1435-1437)gCa>gTa		Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.		C	VAL/ALA	0,4406		0,0,2203	156.0	143.0	147.0		1436	5.9	1.0	7		147	1,8599	1.2+/-3.3	0,1,4299	no	missense	CNTNAP2	NM_014141.5	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	479/1332	146997320	1,13005	2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146997320C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1436C>T	7.37:g.146997320C>T	ENSP00000354778:p.Ala479Val	HNSCC(39;0.1)				MIR548I4_uc022aoo.1_Intron	p.A479V	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		8	1952	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	479			Laminin G-like 2.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1436C>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279364	0.80692	0.0	1.16E-4	ENSG00000174469	ENST00000361727	T	0.77620	-1.11	5.95	5.95	0.96441	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.173042	0.37715	N	0.001963	T	0.77398	0.4124	M	0.65975	2.015	0.80722	D	1	B	0.14012	0.009	B	0.24006	0.05	T	0.70956	-0.4731	10	0.16420	T	0.52	.	18.9528	0.92646	0.0:1.0:0.0:0.0	.	479	Q9UHC6	CNTP2_HUMAN	V	479	ENSP00000354778:A479V	ENSP00000354778:A479V	A	+	2	0	CNTNAP2	146628253	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	7.266000	0.78452	2.817000	0.96982	0.563000	0.77884	GCA		0.428	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		
DOCK8	81704	broad.mit.edu	37	9	404947	404947	+	Silent	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr9:404947G>A	ENST00000453981.1	+	27	3376	c.3264G>A	c.(3262-3264)acG>acA	p.T1088T	DOCK8_ENST00000382329.1_Silent_p.T555T|DOCK8_ENST00000382331.1_Silent_p.T390T|DOCK8_ENST00000432829.2_Silent_p.T1020T|DOCK8_ENST00000469391.1_Silent_p.T988T			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1088					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ACCTTCCAACGCTCATTTCCA	0.418																																						uc003zgf.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(3262-3264)acG>acA		Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.							123.0	105.0	111.0					9																	404947		2203	4300	6503	SO:0001819	synonymous_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:404947G>A	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3264G>A	9.37:g.404947G>A						DOCK8_uc022bcu.1_Silent_p.T1020T|DOCK8_uc010mgv.3_Silent_p.T988T|DOCK8_uc010mgu.3_Silent_p.T390T|DOCK8_uc010mgw.2_Silent_p.T390T|DOCK8_uc003zgk.2_Silent_p.T546T	p.T1088T	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	26	3376	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1088					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	c.3264G>A	CCDS6440.2																																																																																				0.418	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307	
ANKS6	203286	broad.mit.edu	37	9	101533299	101533299	+	Silent	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr9:101533299G>A	ENST00000353234.4	-	10	1898	c.1851C>T	c.(1849-1851)agC>agT	p.S617S	ANKS6_ENST00000375018.1_Silent_p.S617S|ANKS6_ENST00000540940.1_Silent_p.S422S|ANKS6_ENST00000375019.2_Silent_p.S316S			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	617	Ser-rich.					cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TTCTGGGGAGGCTTGGAAATT	0.582																																						uc004ayu.3																			0		p.P616S(1)		endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21						c.(1849-1851)agC>agT		Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA.							43.0	49.0	47.0					9																	101533299		1898	4118	6016	SO:0001819	synonymous_variant	203286							g.chr9:101533299G>A	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.1851C>T	9.37:g.101533299G>A						ANKS6_uc004ayv.2_Silent_p.S79S|ANKS6_uc004ayx.2_Non-coding_Transcript|ANKS6_uc004ayy.2_Non-coding_Transcript|ANKS6_uc004ayt.3_Silent_p.S316S	p.S617S	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN			9	1872	-		Acute lymphoblastic leukemia(62;0.0527)	617			Ser-rich.		A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Silent	SNP	ENST00000353234.4	37	c.1851C>T	CCDS43856.1	.	.	.	.	.	.	.	.	.	.	G	7.396	0.631698	0.14322	.	.	ENSG00000165138	ENST00000444472	.	.	.	5.66	-1.26	0.09376	.	.	.	.	.	T	0.58075	0.2097	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54827	-0.8235	4	.	.	.	-5.3985	11.599	0.50990	0.3725:0.0:0.6275:0.0	.	.	.	.	S	86	.	.	P	-	1	0	ANKS6	100573120	0.963000	0.33076	0.988000	0.46212	0.605000	0.37080	0.178000	0.16820	-0.217000	0.10033	-0.379000	0.06801	CCT		0.582	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551	
BRD3	8019	broad.mit.edu	37	9	136918434	136918434	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr9:136918434C>T	ENST00000303407.7	-	2	351	c.166G>A	c.(166-168)Gcc>Acc	p.A56T	BRD3_ENST00000357885.2_Missense_Mutation_p.A56T|RP11-374P20.4_ENST00000412181.1_RNA|BRD3_ENST00000371834.2_Missense_Mutation_p.A56T	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	56	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		AAGGGCCAGGCGAACTGGTGT	0.617			T	C15orf55	lethal midline carcinoma of young people																																	uc004cew.3				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				kidney(1)|skin(1)|stomach(4)	6						c.(166-168)Gcc>Acc		Homo sapiens bromodomain containing 3 (BRD3), mRNA.							94.0	91.0	92.0					9																	136918434		2203	4300	6503	SO:0001583	missense	8019					nucleus	protein binding	g.chr9:136918434C>T		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.166G>A	9.37:g.136918434C>T	ENSP00000305918:p.Ala56Thr					BRD3_uc004cex.2_Missense_Mutation_p.A56T	p.A56T	NM_007371	NP_031397	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	1	354	-			56			Bromo 1.		B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	ENST00000303407.7	37	c.166G>A	CCDS6980.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.098256	0.76870	.	.	ENSG00000169925	ENST00000303407;ENST00000371834;ENST00000357885;ENST00000371842	T;T;T;T	0.36699	1.24;1.24;1.24;1.99	5.28	5.28	0.74379	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.64402	D	0.000001	T	0.62417	0.2426	M	0.82433	2.59	0.80722	D	1	D;D	0.64830	0.991;0.994	P;P	0.62435	0.902;0.811	T	0.68773	-0.5320	10	0.87932	D	0	-26.7557	17.8826	0.88845	0.0:1.0:0.0:0.0	.	56;56	Q15059-2;Q15059	.;BRD3_HUMAN	T	56	ENSP00000305918:A56T;ENSP00000360900:A56T;ENSP00000350557:A56T;ENSP00000360908:A56T	ENSP00000305918:A56T	A	-	1	0	BRD3	135908255	1.000000	0.71417	1.000000	0.80357	0.198000	0.23893	5.802000	0.69122	2.452000	0.82932	0.563000	0.77884	GCC		0.617	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371	
FMR1NB	158521	broad.mit.edu	37	X	147088330	147088330	+	Missense_Mutation	SNP	C	C	T	rs376382924		TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chrX:147088330C>T	ENST00000370467.3	+	3	580	c.506C>T	c.(505-507)aCg>aTg	p.T169M	5S_rRNA_ENST00000364415.1_RNA	NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	169	P-type.					integral component of membrane (GO:0016021)|nucleolus (GO:0005730)				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TCGGGGACCACGAGCTTCAAA	0.368																																						uc004fcm.3																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25						c.(505-507)aCg>aTg		Homo sapiens fragile X mental retardation 1 neighbor (FMR1NB), mRNA.		C	MET/THR	1,3834		0,1,1631,571	182.0	156.0	165.0		506	-8.6	0.0	X		165	0,6728		0,0,2428,1872	no	missense	FMR1NB	NM_152578.2	81	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	probably-damaging	169/256	147088330	1,10562	2203	4300	6503	SO:0001583	missense	158521					integral to membrane		g.chrX:147088330C>T		CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"""cancer/testis antigen 37"""					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.506C>T	X.37:g.147088330C>T	ENSP00000359498:p.Thr169Met						p.T169M	NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN			2	580	+	Acute lymphoblastic leukemia(192;6.56e-05)		169			P-type.		D3DWT3	Missense_Mutation	SNP	ENST00000370467.3	37	c.506C>T	CCDS14683.1	.	.	.	.	.	.	.	.	.	.	C	5.088	0.201811	0.09652	2.61E-4	0.0	ENSG00000176988	ENST00000370467	T	0.29917	1.55	5.32	-8.55	0.00908	P-type trefoil (1);	1.785190	0.03628	N	0.237471	T	0.11495	0.0280	N	0.08118	0	0.09310	N	1	B	0.15719	0.014	B	0.11329	0.006	T	0.14200	-1.0481	10	0.42905	T	0.14	-0.2628	0.6082	0.00756	0.3472:0.2163:0.1104:0.3261	.	169	Q8N0W7	FMR1N_HUMAN	M	169	ENSP00000359498:T169M	ENSP00000359498:T169M	T	+	2	0	FMR1NB	146896022	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.055000	0.01397	-1.821000	0.01213	-1.140000	0.01884	ACG		0.368	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058667.1	NM_152578	
