#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SLC24A3	57419	broad.mit.edu	37	20	19566136	19566136	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr20:19566136C>T	ENST00000328041.6	+	6	757	c.560C>T	c.(559-561)gCg>gTg	p.A187V		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	187					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTGGGCTCAGCGGTATTCAAC	0.527																																						ENST00000328041.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(559-561)gCg>gTg		solute carrier family 24 (sodium/potassium/calcium exchanger), member 3							321.0	284.0	297.0					20																	19566136		2203	4300	6503	SO:0001583	missense	57419					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr20:19566136C>T	AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.560C>T	20.37:g.19566136C>T	ENSP00000333519:p.Ala187Val						p.A187V	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN			6	757	+			187					B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	ENST00000328041.6	37	c.560C>T	CCDS13140.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.581596	0.86748	.	.	ENSG00000185052	ENST00000328041	T	0.64085	-0.08	5.63	5.63	0.86233	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.87156	0.6107	H	0.98068	4.14	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.91628	0.5316	9	.	.	.	.	17.1718	0.86832	0.0:1.0:0.0:0.0	.	187	Q9HC58	NCKX3_HUMAN	V	187	ENSP00000333519:A187V	.	A	+	2	0	SLC24A3	19514136	1.000000	0.71417	0.058000	0.19502	0.550000	0.35303	7.468000	0.80943	2.650000	0.89964	0.467000	0.42956	GCG		0.527	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689		10	288	0	0	0	0.000978159	0	10	288				
OR1S2	219958	broad.mit.edu	37	11	57971223	57971223	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr11:57971223T>C	ENST00000302592.6	-	1	430	c.431A>G	c.(430-432)aAc>aGc	p.N144S		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AGTTGTATAGTTCAGAGGGTG	0.463																																						ENST00000302592.6																			0				endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46						c.(430-432)aAc>aGc		olfactory receptor, family 1, subfamily S, member 2							152.0	144.0	147.0					11																	57971223		2201	4296	6497	SO:0001583	missense	219958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57971223T>C	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"""GPCR / Class A : Olfactory receptors"""	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.431A>G	11.37:g.57971223T>C	ENSP00000305469:p.Asn144Ser						p.N144S	NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN			1	430	-		Breast(21;0.0589)	144					Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	c.431A>G	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	T	7.712	0.695390	0.15106	.	.	ENSG00000197887	ENST00000302592	T	0.00382	7.61	4.47	-0.94	0.10405	GPCR, rhodopsin-like superfamily (1);	0.664334	0.13806	N	0.361469	T	0.00178	0.0005	N	0.20401	0.57	0.24998	N	0.991486	B	0.19706	0.038	B	0.14023	0.01	T	0.35151	-0.9800	10	0.66056	D	0.02	.	5.5071	0.16860	0.0:0.1541:0.2708:0.5751	.	144	Q8NGQ3	OR1S2_HUMAN	S	144	ENSP00000305469:N144S	ENSP00000305469:N144S	N	-	2	0	OR1S2	57727799	0.000000	0.05858	0.149000	0.22428	0.192000	0.23643	-0.817000	0.04472	-0.253000	0.09514	-0.290000	0.09829	AAC		0.463	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		14	100	0	0	0	0.00244969	0	14	100				
GBA2	57704	broad.mit.edu	37	9	35751280	35751280	+	5'Flank	SNP	T	T	G			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr9:35751280T>G	ENST00000378103.3	-	0	0				MSMP_ENST00000414286.1_5'Flank|GBA2_ENST00000378094.4_5'Flank|RGP1_ENST00000456972.2_Missense_Mutation_p.F209V|GBA2_ENST00000545786.1_5'Flank|RGP1_ENST00000378078.4_Missense_Mutation_p.F169V	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGATGTCCGGTTTCCCCAGGA	0.512																																						ENST00000378078.4																			0				cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(505-507)Ttt>Gtt		RGP1 retrograde golgi transport homolog (S. cerevisiae)							211.0	209.0	210.0					9																	35751280		1957	4138	6095	SO:0001631	upstream_gene_variant	9827							g.chr9:35751280T>G	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35751280T>G	Exception_encountered					RGP1_ENST00000456972.2_Missense_Mutation_p.F209V	p.F169V	NM_001080496.2	NP_001073965.2	Q92546	RGP1_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		6	646	+	all_epithelial(49;0.167)		169					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	c.505T>G	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	T	4.822	0.152767	0.09185	.	.	ENSG00000107185	ENST00000456972;ENST00000378078	.	.	.	5.82	4.68	0.58851	.	0.146508	0.64402	D	0.000006	T	0.38134	0.1029	L	0.36672	1.1	0.35053	D	0.760844	B;B	0.22146	0.065;0.065	B;B	0.30251	0.113;0.113	T	0.38693	-0.9649	9	0.17369	T	0.5	-12.2496	4.2949	0.10897	0.1563:0.1563:0.0:0.6874	.	169;169	Q92546;A8K0K1	RGP1_HUMAN;.	V	209;169	.	ENSP00000367318:F169V	F	+	1	0	RGP1	35741280	1.000000	0.71417	0.958000	0.39756	0.725000	0.41563	5.155000	0.64900	1.038000	0.40049	0.459000	0.35465	TTT		0.512	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		32	338	0	0	0	0.000692331	0	32	338				
ST8SIA6	338596	broad.mit.edu	37	10	17365107	17365107	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr10:17365107T>C	ENST00000377602.4	-	7	759	c.685A>G	c.(685-687)Aaa>Gaa	p.K229E		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	229					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						AGATTTGTTTTACTGCCAACA	0.333																																						ENST00000377602.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						c.(685-687)Aaa>Gaa		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6							202.0	182.0	189.0					10																	17365107		2203	4300	6503	SO:0001583	missense	338596				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr10:17365107T>C		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.685A>G	10.37:g.17365107T>C	ENSP00000366827:p.Lys229Glu						p.K229E	NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN			7	759	-			229					B0YJ97|B9EH72|Q5VZH4	Missense_Mutation	SNP	ENST00000377602.4	37	c.685A>G	CCDS31158.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.302321	0.81136	.	.	ENSG00000148488	ENST00000377610;ENST00000377602	T	0.48836	0.8	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.75466	0.3853	M	0.92412	3.305	0.50632	D	0.999881	D	0.76494	0.999	D	0.79784	0.993	T	0.82400	-0.0476	10	0.87932	D	0	-2.0574	15.3779	0.74625	0.0:0.0:0.0:1.0	.	229	P61647	SIA8F_HUMAN	E	59;229	ENSP00000366827:K229E	ENSP00000366827:K229E	K	-	1	0	ST8SIA6	17405113	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	5.777000	0.68931	2.280000	0.76307	0.460000	0.39030	AAA		0.333	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470		25	50	0	0	0	0.00106085	0	25	50				
PTPRG	5793	broad.mit.edu	37	3	62240850	62240850	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr3:62240850T>G	ENST00000474889.1	+	16	2896	c.2519T>G	c.(2518-2520)cTc>cGc	p.L840R	PTPRG_ENST00000295874.10_Missense_Mutation_p.L811R	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	840					brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ATCGGTGAGCTCTATTCTAAT	0.368																																						ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(2518-2520)cTc>cGc		protein tyrosine phosphatase, receptor type, G							139.0	135.0	136.0					3																	62240850		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62240850T>G	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.2519T>G	3.37:g.62240850T>G	ENSP00000418112:p.Leu840Arg					PTPRG_ENST00000295874.10_Missense_Mutation_p.L811R	p.L840R	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	16	2896	+			840					B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.2519T>G	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.993683	0.74703	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.13420	2.59;2.59	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.28896	0.0717	L	0.46819	1.47	0.80722	D	1	B;D;D	0.76494	0.009;0.999;0.97	B;D;P	0.63113	0.006;0.911;0.618	T	0.00726	-1.1592	10	0.48119	T	0.1	.	15.7156	0.77667	0.0:0.0:0.0:1.0	.	86;811;840	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	R	840;811	ENSP00000418112:L840R;ENSP00000295874:L811R	ENSP00000295874:L811R	L	+	2	0	PTPRG	62215890	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.838000	0.69388	2.121000	0.65114	0.528000	0.53228	CTC		0.368	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		34	60	0	0	0	0.000953801	0	34	60				
KCNK5	8645	broad.mit.edu	37	6	39158873	39158873	+	Silent	SNP	G	G	A	rs144931567		TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr6:39158873G>A	ENST00000359534.3	-	5	1631	c.1293C>T	c.(1291-1293)gaC>gaT	p.D431D		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	431					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.D431D(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						AGGTCTCCTCGTCTGAGAGGC	0.632																																						ENST00000359534.3																			1	Substitution - coding silent(1)	p.D431D(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						c.(1291-1293)gaC>gaT		potassium channel, subfamily K, member 5		G		1,4405	2.1+/-5.4	0,1,2202	56.0	54.0	55.0		1293	-9.9	0.0	6	dbSNP_134	55	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	KCNK5	NM_003740.3		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		431/500	39158873	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	8645				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39158873G>A	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.1293C>T	6.37:g.39158873G>A							p.D431D	NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN			5	1631	-			431					B2RAQ6|B5TJL2|Q5VV76	Silent	SNP	ENST00000359534.3	37	c.1293C>T	CCDS4841.1																																																																																				0.632	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740		4	38	0	0	0	0.00024832	0	4	38				
ENPP1	5167	broad.mit.edu	37	6	132195457	132195457	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr6:132195457A>G	ENST00000360971.2	+	16	1635	c.1615A>G	c.(1615-1617)Aat>Gat	p.N539D		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	539	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TGGCTCTGACAATGTATTTTC	0.279																																					Colon(104;336 1535 5856 11019 33782)	ENST00000360971.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46						c.(1615-1617)Aat>Gat		ectonucleotide pyrophosphatase/phosphodiesterase 1	Amifostine(DB01143)|Ribavirin(DB00811)						97.0	106.0	103.0					6																	132195457		2203	4286	6489	SO:0001583	missense	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132195457A>G	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.1615A>G	6.37:g.132195457A>G	ENSP00000354238:p.Asn539Asp						p.N539D	NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	16	1635	+	Breast(56;0.0505)		539			Phosphodiesterase.		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	c.1615A>G	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	A	24.2	4.505537	0.85282	.	.	ENSG00000197594	ENST00000360971	T	0.76060	-0.99	5.95	5.95	0.96441	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.047144	0.85682	D	0.000000	D	0.86665	0.5987	M	0.89287	3.02	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.89140	0.3516	10	0.72032	D	0.01	-31.2336	16.4237	0.83790	1.0:0.0:0.0:0.0	.	539;169	P22413;Q7Z3P5	ENPP1_HUMAN;.	D	539	ENSP00000354238:N539D	ENSP00000354238:N539D	N	+	1	0	ENPP1	132237150	1.000000	0.71417	0.968000	0.41197	0.889000	0.51656	7.548000	0.82154	2.279000	0.76181	0.533000	0.62120	AAT		0.279	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			39	67	0	0	0	0.00222228	0	39	67				
SPOP	8405	broad.mit.edu	37	17	47696637	47696637	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr17:47696637A>G	ENST00000393328.2	-	5	676	c.311T>C	c.(310-312)tTc>tCc	p.F104S	SPOP_ENST00000347630.2_Missense_Mutation_p.F104S|SPOP_ENST00000504102.1_Missense_Mutation_p.F104S|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_Missense_Mutation_p.F104S|SPOP_ENST00000393331.3_Missense_Mutation_p.F104S	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	104	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CAGGATGGAGAATTTGAATTT	0.408										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(310-312)tTc>tCc		speckle-type POZ protein							151.0	139.0	143.0					17																	47696637		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696637A>G	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.311T>C	17.37:g.47696637A>G	ENSP00000377001:p.Phe104Ser	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.F104S|SPOP_ENST00000503676.1_Missense_Mutation_p.F104S|SPOP_ENST00000347630.2_Missense_Mutation_p.F104S|SPOP_ENST00000393328.2_Missense_Mutation_p.F104S	p.F104S	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			6	781	-			104			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.311T>C	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.671845	0.88348	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	D	0.87337	0.6152	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.91256	0.5033	10	0.87932	D	0	-15.0693	15.4649	0.75390	1.0:0.0:0.0:0.0	.	104	O43791	SPOP_HUMAN	S	104;104;104;104;104;57;104;104;104;104;104	ENSP00000377001:F104S;ENSP00000377004:F104S;ENSP00000240327:F104S;ENSP00000425905:F104S;ENSP00000420908:F104S;ENSP00000426986:F104S;ENSP00000420960:F104S;ENSP00000426262:F104S;ENSP00000424119:F104S;ENSP00000426537:F104S	ENSP00000240327:F104S	F	-	2	0	SPOP	45051636	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.321000	0.79088	2.317000	0.78254	0.460000	0.39030	TTC		0.408	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		44	73	0	0	0	0.00285205	0	44	73				
PCDHB4	56131	broad.mit.edu	37	5	140502262	140502262	+	Nonsense_Mutation	SNP	C	C	T	rs375620247		TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr5:140502262C>T	ENST00000194152.1	+	1	682	c.682C>T	c.(682-684)Cga>Tga	p.R228*	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	228	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R228*(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCATGGTTCGAATCCTGAT	0.542																																						ENST00000194152.1																			1	Substitution - Nonsense(1)	p.R228*(1)	large_intestine(1)	autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(682-684)Cga>Tga				C	stop/ARG	0,4406		0,0,2203	131.0	121.0	124.0		682	2.5	0.0	5		124	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	PCDHB4	NM_018938.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		228/796	140502262	1,13005	2203	4300	6503	SO:0001587	stop_gained	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502262C>T	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.682C>T	5.37:g.140502262C>T	ENSP00000194152:p.Arg228*						p.R228*	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	682	+			228			Cadherin 2.		Q4V761	Nonsense_Mutation	SNP	ENST00000194152.1	37	c.682C>T	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.674784	0.47781	0.0	1.16E-4	ENSG00000081818	ENST00000194152	.	.	.	4.31	2.46	0.29980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5138	0.61528	0.5737:0.4263:0.0:0.0	.	.	.	.	X	228	.	ENSP00000194152:R228X	R	+	1	2	PCDHB4	140482446	0.000000	0.05858	0.034000	0.17996	0.747000	0.42532	-1.935000	0.01550	0.517000	0.28361	0.650000	0.86243	CGA		0.542	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		6	123	0	0	0	0.00116845	0	6	123				
SLC22A16	85413	broad.mit.edu	37	6	110768172	110768172	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr6:110768172C>A	ENST00000368919.3	-	3	621	c.555G>T	c.(553-555)ttG>ttT	p.L185F	SLC22A16_ENST00000330550.4_Missense_Mutation_p.L151F|SLC22A16_ENST00000439654.1_Missense_Mutation_p.L185F|SLC22A16_ENST00000456137.2_3'UTR	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	185					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	TTGTGGCCCACAAGACCACCC	0.443																																						ENST00000368919.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(553-555)ttG>ttT		solute carrier family 22 (organic cation/carnitine transporter), member 16							70.0	65.0	67.0					6																	110768172		2203	4300	6503	SO:0001583	missense	85413				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	g.chr6:110768172C>A		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.555G>T	6.37:g.110768172C>A	ENSP00000357915:p.Leu185Phe					SLC22A16_ENST00000330550.4_Missense_Mutation_p.L151F|SLC22A16_ENST00000439654.1_Missense_Mutation_p.L185F|SLC22A16_ENST00000456137.2_3'UTR	p.L185F	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	3	621	-		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)	185					O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	ENST00000368919.3	37	c.555G>T	CCDS5084.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.708472	0.30322	.	.	ENSG00000004809	ENST00000368919;ENST00000451557;ENST00000330550;ENST00000439654;ENST00000434949;ENST00000437378;ENST00000424139	T;T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	5.14	2.37	0.29283	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.265904	0.35555	N	0.003128	T	0.69584	0.3127	L	0.45285	1.41	0.80722	D	1	D;D	0.64830	0.994;0.992	D;P	0.66497	0.944;0.907	T	0.65869	-0.6063	10	0.15499	T	0.54	.	10.493	0.44762	0.0:0.6998:0.0:0.3002	.	185;151	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	F	185;102;151;185;15;142;142	ENSP00000357915:L185F;ENSP00000395642:L102F;ENSP00000328583:L151F;ENSP00000408799:L185F;ENSP00000409306:L15F;ENSP00000416310:L142F;ENSP00000401007:L142F	ENSP00000328583:L151F	L	-	3	2	SLC22A16	110874865	1.000000	0.71417	0.477000	0.27303	0.131000	0.20780	1.509000	0.35780	-0.031000	0.13781	-1.134000	0.01955	TTG		0.443	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		13	21	1	0	1.61879e-10	0.00136819	6.28091e-10	13	21				
HS3ST6	64711	broad.mit.edu	37	16	1961822	1961822	+	Silent	SNP	G	G	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr16:1961822G>A	ENST00000293937.3	-	2	797	c.798C>T	c.(796-798)ttC>ttT	p.F266F	HS3ST6_ENST00000443547.1_Silent_p.F235F|HS3ST6_ENST00000454677.2_Silent_p.F283F			Q96QI5	HS3S6_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	266					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			endometrium(2)|lung(2)	4						TCAGGCCCAGGAAGTCCTGCA	0.667																																						ENST00000454677.2																			0				endometrium(2)|lung(2)	4						c.(847-849)ttC>ttT		heparan sulfate (glucosamine) 3-O-sulfotransferase 6							70.0	81.0	77.0					16																	1961822		2197	4300	6497	SO:0001819	synonymous_variant	64711							g.chr16:1961822G>A			16p13.3	2008-10-30	2003-06-11	2003-06-13	ENSG00000162040	ENSG00000162040		"""Sulfotransferases, membrane-bound"""	14178	protein-coding gene	gene with protein product			"""heparan sulfate (glucosamine) 3-O-sulfotransferase 5"""	HS3ST5		11157797	Standard	NM_001009606		Approved		uc002cnf.3	Q96QI5	OTTHUMG00000047860	ENST00000293937.3:c.798C>T	16.37:g.1961822G>A						HS3ST6_ENST00000293937.3_Silent_p.F266F|HS3ST6_ENST00000443547.1_Silent_p.F235F	p.F283F			C9JH64	C9JH64_HUMAN			2	914	-			235					Q96RX7	Silent	SNP	ENST00000293937.3	37	c.849C>T																																																																																					0.667	HS3ST6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001009606		13	143	0	0	0	0.00244969	0	13	143				
CNOT2	4848	broad.mit.edu	37	12	70723332	70723332	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr12:70723332C>T	ENST00000418359.3	+	6	819	c.368C>T	c.(367-369)aCg>aTg	p.T123M	CNOT2_ENST00000548230.1_3'UTR|CNOT2_ENST00000229195.3_Missense_Mutation_p.T123M	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	123					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TCACTTCACACGCCTCCATCT	0.398																																						ENST00000229195.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20						c.(367-369)aCg>aTg		CCR4-NOT transcription complex, subunit 2							133.0	122.0	125.0					12																	70723332		2203	4300	6503	SO:0001583	missense	4848				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	g.chr12:70723332C>T	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.368C>T	12.37:g.70723332C>T	ENSP00000412091:p.Thr123Met					CNOT2_ENST00000418359.3_Missense_Mutation_p.T123M|CNOT2_ENST00000548230.1_3'UTR	p.T123M	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		5	947	+	Renal(347;0.236)		123					Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Missense_Mutation	SNP	ENST00000418359.3	37	c.368C>T	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.956011	0.53293	.	.	ENSG00000111596	ENST00000552231;ENST00000229195;ENST00000418359;ENST00000552915;ENST00000550641;ENST00000548159;ENST00000549750;ENST00000551043;ENST00000551873;ENST00000550194	T;T;T;T	0.48836	0.8;0.8;0.81;0.8	5.5	5.5	0.81552	.	0.207589	0.50627	D	0.000118	T	0.41419	0.1158	N	0.24115	0.695	0.58432	D	0.999999	P	0.50943	0.94	P	0.44732	0.459	T	0.20273	-1.0280	10	0.33141	T	0.24	-4.9036	19.4076	0.94655	0.0:1.0:0.0:0.0	.	123	Q9NZN8	CNOT2_HUMAN	M	123;123;123;123;103;114;123;123;38;123	ENSP00000229195:T123M;ENSP00000412091:T123M;ENSP00000449659:T114M;ENSP00000449260:T123M	ENSP00000229195:T123M	T	+	2	0	CNOT2	69009599	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.487000	0.81328	2.586000	0.87340	0.460000	0.39030	ACG		0.398	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			24	50	0	0	0	0.000878237	0	24	50				
FBN3	84467	broad.mit.edu	37	19	8140171	8140171	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr19:8140171A>C	ENST00000600128.1	-	60	7992	c.7578T>G	c.(7576-7578)tgT>tgG	p.C2526W	FBN3_ENST00000270509.2_Missense_Mutation_p.C2526W|FBN3_ENST00000601739.1_Missense_Mutation_p.C2526W			Q75N90	FBN3_HUMAN	fibrillin 3	2526	EGF-like 41; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTGTACCTTCACAGCCATGGC	0.602																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(7576-7578)tgT>tgG		fibrillin 3							51.0	46.0	48.0					19																	8140171		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8140171A>C		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.7578T>G	19.37:g.8140171A>C	ENSP00000470498:p.Cys2526Trp					FBN3_ENST00000601739.1_Missense_Mutation_p.C2526W|FBN3_ENST00000270509.2_Missense_Mutation_p.C2526W	p.C2526W			Q75N90	FBN3_HUMAN			60	7992	-			2526			EGF-like 41; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.7578T>G	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.180279	0.38511	.	.	ENSG00000142449	ENST00000270509	D	0.91237	-2.81	3.93	-3.17	0.05202	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.116409	0.64402	U	0.000014	D	0.95937	0.8677	H	0.98646	4.29	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92548	0.6047	10	0.87932	D	0	.	6.8287	0.23897	0.5145:0.1233:0.3622:0.0	.	2526	Q75N90	FBN3_HUMAN	W	2526	ENSP00000270509:C2526W	ENSP00000270509:C2526W	C	-	3	2	FBN3	8046171	0.331000	0.24713	0.972000	0.41901	0.298000	0.27526	-0.166000	0.09954	-0.530000	0.06349	0.379000	0.24179	TGT		0.602	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		22	40	0	0	0	0.00229938	0	22	40				
SLC51A	200931	broad.mit.edu	37	3	195959365	195959365	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr3:195959365C>T	ENST00000296327.5	+	8	1065	c.856C>T	c.(856-858)Cct>Tct	p.P286S	PCYT1A_ENST00000419333.1_Intron	NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	286					bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	TGCTTGTTCGCCTCCCTATTC	0.552																																						ENST00000296327.5																			0											c.(856-858)Cct>Tct		solute carrier family 51, alpha subunit							163.0	130.0	142.0					3																	195959365		2203	4300	6503	SO:0001583	missense	200931							g.chr3:195959365C>T		CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"""Solute carriers"""	29955	protein-coding gene	gene with protein product	"""organic solute transporter, alpha subunit"""	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.856C>T	3.37:g.195959365C>T	ENSP00000296327:p.Pro286Ser					PCYT1A_ENST00000419333.1_Intron	p.P286S	NM_152672.5	NP_689885.4					8	1065	+								Q6ZMC7	Missense_Mutation	SNP	ENST00000296327.5	37	c.856C>T	CCDS3314.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812629	0.90707	.	.	ENSG00000163959	ENST00000296327	T	0.39229	1.09	6.03	6.03	0.97812	.	0.000000	0.49305	D	0.000151	T	0.66567	0.2802	M	0.83012	2.62	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.60737	-0.7204	10	0.13108	T	0.6	.	19.545	0.95291	0.0:1.0:0.0:0.0	.	286	Q86UW1	OSTA_HUMAN	S	286	ENSP00000296327:P286S	ENSP00000296327:P286S	P	+	1	0	AC069257.9	197443762	0.999000	0.42202	0.984000	0.44739	0.902000	0.53008	5.432000	0.66514	2.861000	0.98227	0.655000	0.94253	CCT		0.552	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341253.1	NM_152672		7	86	0	0	0	0.000157383	0	7	86				
ANKRD30A	91074	broad.mit.edu	37	10	37508447	37508447	+	Nonsense_Mutation	SNP	T	T	G			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr10:37508447T>G	ENST00000602533.1	+	34	3738	c.3639T>G	c.(3637-3639)taT>taG	p.Y1213*	ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.Y1213*|ANKRD30A_ENST00000374660.1_Nonsense_Mutation_p.Y1332*			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1269					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATCTCAATTATGCAGGAGATG	0.373																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(3994-3996)taT>taG		ankyrin repeat domain 30A							58.0	51.0	53.0					10																	37508447		1862	4092	5954	SO:0001587	stop_gained	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37508447T>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3639T>G	10.37:g.37508447T>G	ENSP00000473551:p.Tyr1213*					ANKRD30A_ENST00000602533.1_Nonsense_Mutation_p.Y1213*|ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.Y1213*	p.Y1332*			Q9BXX3	AN30A_HUMAN			40	4095	+			1269					Q5W025	Nonsense_Mutation	SNP	ENST00000602533.1	37	c.3996T>G		.	.	.	.	.	.	.	.	.	.	t	32	5.140807	0.94560	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	.	.	.	2.91	-5.82	0.02333	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.7071	0.02884	0.1326:0.1472:0.2638:0.4564	.	.	.	.	X	1213;1332	.	ENSP00000354432:Y1213X	Y	+	3	2	ANKRD30A	37548453	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.363000	0.02592	-1.470000	0.01888	-0.457000	0.05445	TAT		0.373	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		3	36	0	0	0	6.4e-05	0	3	36				
NRCAM	4897	broad.mit.edu	37	7	107880413	107880413	+	Silent	SNP	T	T	C			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr7:107880413T>C	ENST00000425651.2	-	1	95	c.96A>G	c.(94-96)gtA>gtG	p.V32V	NRCAM_ENST00000351718.4_Silent_p.V32V|NRCAM_ENST00000379024.4_Silent_p.V32V|NRCAM_ENST00000379022.4_Silent_p.V32V|NRCAM_ENST00000413765.2_Silent_p.V32V|NRCAM_ENST00000379028.3_Silent_p.V32V	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	32					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GATCAAGAGGTACTTCCAGTG	0.458																																						ENST00000379028.3																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						c.(94-96)gtA>gtG		neuronal cell adhesion molecule							109.0	105.0	106.0					7																	107880413		2203	4300	6503	SO:0001819	synonymous_variant	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107880413T>C		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.96A>G	7.37:g.107880413T>C						NRCAM_ENST00000379022.4_Silent_p.V32V|NRCAM_ENST00000379024.4_Silent_p.V32V|NRCAM_ENST00000425651.2_Silent_p.V32V|NRCAM_ENST00000351718.4_Silent_p.V32V|NRCAM_ENST00000413765.2_Silent_p.V32V	p.V32V			Q92823	NRCAM_HUMAN			4	566	-			32					A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Silent	SNP	ENST00000425651.2	37	c.96A>G	CCDS47686.1																																																																																				0.458	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		16	152	0	0	0	0.00074312	0	16	152				
NSRP1	84081	broad.mit.edu	37	17	28511696	28511696	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr17:28511696A>G	ENST00000247026.5	+	7	744	c.681A>G	c.(679-681)atA>atG	p.I227M	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	227					developmental process (GO:0032502)|mRNA processing (GO:0006397)|nucleocytoplasmic transport (GO:0006913)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						AAAACAGAATACCACAAGAGA	0.368																																						ENST00000247026.5																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						c.(679-681)atA>atG		nuclear speckle splicing regulatory protein 1							58.0	58.0	58.0					17																	28511696		2203	4300	6503	SO:0001583	missense	84081				developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding	g.chr17:28511696A>G	AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653			25305	protein-coding gene	gene with protein product			"""coiled-coil domain containing 55"""	CCDC55		11230166	Standard	NM_032141		Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	ENST00000247026.5:c.681A>G	17.37:g.28511696A>G	ENSP00000247026:p.Ile227Met					NSRP1_ENST00000540900.3_3'UTR	p.I227M	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN			7	744	+			227					Q6FI71	Missense_Mutation	SNP	ENST00000247026.5	37	c.681A>G	CCDS11255.1	.	.	.	.	.	.	.	.	.	.	A	1.032	-0.681594	0.03353	.	.	ENSG00000126653	ENST00000247026;ENST00000540900;ENST00000394826	T	0.42513	0.97	5.96	0.909	0.19332	.	1.041630	0.07527	N	0.911615	T	0.32224	0.0822	L	0.51422	1.61	0.09310	N	1	B	0.19445	0.036	B	0.11329	0.006	T	0.36792	-0.9733	10	0.48119	T	0.1	0.5117	0.9696	0.01413	0.3897:0.2115:0.0914:0.3074	.	227	Q9H0G5	NSRP1_HUMAN	M	227;158;173	ENSP00000247026:I227M	ENSP00000247026:I227M	I	+	3	3	NSRP1	25535822	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.193000	0.17116	0.408000	0.25621	0.528000	0.53228	ATA		0.368	NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256121.2	NM_032141		3	51	0	0	0	6.4e-05	0	3	51				
WNK1	65125	broad.mit.edu	37	12	966384	966384	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr12:966384G>A	ENST00000315939.6	+	5	2012	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K	WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000340908.4_Missense_Mutation_p.E50K|WNK1_ENST00000537687.1_Missense_Mutation_p.E457K|WNK1_ENST00000530271.2_Missense_Mutation_p.E457K|WNK1_ENST00000535572.1_Missense_Mutation_p.E457K	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	457	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GGAAATTATTGAAGGATGCAT	0.373																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(1369-1371)Gaa>Aaa		WNK lysine deficient protein kinase 1							97.0	94.0	95.0					12																	966384		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:966384G>A	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.1369G>A	12.37:g.966384G>A	ENSP00000313059:p.Glu457Lys					WNK1_ENST00000530271.2_Missense_Mutation_p.E457K|WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000315939.6_Missense_Mutation_p.E457K|WNK1_ENST00000340908.4_Missense_Mutation_p.E50K|WNK1_ENST00000535572.1_Missense_Mutation_p.E457K	p.E457K	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		5	2012	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		457			Protein kinase.		A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.1369G>A	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	34	5.341399	0.95783	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000530271;ENST00000340908	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;1.9	5.84	5.84	0.93424	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000005	T	0.67277	0.2876	N	0.20483	0.58	0.58432	D	0.999991	D;D	0.55172	0.963;0.97	P;P	0.61940	0.784;0.896	T	0.67241	-0.5720	10	0.44086	T	0.13	-18.3748	20.1466	0.98079	0.0:0.0:1.0:0.0	.	457;457	F5GWT4;Q9H4A3	.;WNK1_HUMAN	K	457;457;457;457;50	ENSP00000441972:E457K;ENSP00000313059:E457K;ENSP00000444465:E457K;ENSP00000433548:E457K;ENSP00000341292:E50K	ENSP00000313059:E457K	E	+	1	0	WNK1	836645	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	9.824000	0.99380	2.779000	0.95612	0.591000	0.81541	GAA		0.373	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		23	29	0	0	0	0.000878237	0	23	29				
AIFM2	84883	broad.mit.edu	37	10	71877572	71877572	+	Silent	SNP	C	C	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr10:71877572C>A	ENST00000307864.1	-	6	825	c.612G>T	c.(610-612)ctG>ctT	p.L204L	AIFM2_ENST00000373248.1_Silent_p.L204L|AIFM2_ENST00000482166.1_5'UTR	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	204					apoptotic mitochondrial changes (GO:0008637)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						ACGTACTCAGCAGCAGCTGCA	0.637																																						ENST00000307864.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						c.(610-612)ctG>ctT		apoptosis-inducing factor, mitochondrion-associated, 2							85.0	76.0	79.0					10																	71877572		2203	4300	6503	SO:0001819	synonymous_variant	84883				apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding	g.chr10:71877572C>A	AK027403	CCDS7297.1	10q22.2	2006-11-16	2006-11-16	2006-11-16	ENSG00000042286	ENSG00000042286			21411	protein-coding gene	gene with protein product		605159	"""apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death"""	AMID		12135761, 11980907, 15958387	Standard	NM_001198696		Approved	FLJ14497, PRG3	uc001jqp.2	Q9BRQ8	OTTHUMG00000018398	ENST00000307864.1:c.612G>T	10.37:g.71877572C>A						AIFM2_ENST00000373248.1_Silent_p.L204L|AIFM2_ENST00000482166.1_5'UTR	p.L204L	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN			6	825	-			204					B3KXI0|Q63Z39	Silent	SNP	ENST00000307864.1	37	c.612G>T	CCDS7297.1																																																																																				0.637	AIFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048487.1	NM_032797		8	64	1	0	0.000442599	0.000442599	0.00168361	8	64				
FADS3	3995	broad.mit.edu	37	11	61641315	61641315	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr11:61641315T>C	ENST00000278829.2	-	12	1461	c.1309A>G	c.(1309-1311)Atc>Gtc	p.I437V	FADS3_ENST00000525588.1_Missense_Mutation_p.I409V|FADS3_ENST00000540820.1_3'UTR|FADS3_ENST00000527697.1_Missense_Mutation_p.I322V	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	437					unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water (GO:0016717)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TCCAGCCAGATGTCACCAGAC	0.622																																						ENST00000278829.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1309-1311)Atc>Gtc		fatty acid desaturase 3							38.0	34.0	36.0					11																	61641315		2202	4298	6500	SO:0001583	missense	3995				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water	g.chr11:61641315T>C		CCDS8013.1	11q12-q13.1	2013-01-25			ENSG00000221968	ENSG00000221968	1.14.19.3	"""Fatty acid desaturases"""	3576	protein-coding gene	gene with protein product	"""delta-9-desaturase"""	606150		LLCDL3			Standard	NM_021727		Approved	CYB5RP	uc001nsm.3	Q9Y5Q0	OTTHUMG00000167500	ENST00000278829.2:c.1309A>G	11.37:g.61641315T>C	ENSP00000278829:p.Ile437Val					FADS3_ENST00000525588.1_Missense_Mutation_p.I409V|FADS3_ENST00000527697.1_Missense_Mutation_p.I322V|FADS3_ENST00000540820.1_3'UTR	p.I437V	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN			12	1461	-			437					O60426	Missense_Mutation	SNP	ENST00000278829.2	37	c.1309A>G	CCDS8013.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	11.98|11.98	1.800762|1.800762	0.31869|0.31869	.|.	.|.	ENSG00000221968|ENSG00000221968	ENST00000525094|ENST00000527697;ENST00000278829;ENST00000525588	.|T;T;T	.|0.57107	.|2.0;0.42;0.42	4.78|4.78	-1.31|-1.31	0.09230|0.09230	.|.	.|.	.|.	.|.	.|.	T|T	0.19208|0.19208	0.0461|0.0461	N|N	0.00760|0.00760	-1.21|-1.21	0.26200|0.26200	N|N	0.979459|0.979459	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.17501|0.17501	-1.0367|-1.0367	5|9	.|0.44086	.|T	.|0.13	-6.3535|-6.3535	6.3752|6.3752	0.21503|0.21503	0.0:0.4474:0.2003:0.3523|0.0:0.4474:0.2003:0.3523	.|.	.|322;437	.|E9PKP8;Q9Y5Q0	.|.;FADS3_HUMAN	R|V	107|322;437;409	.|ENSP00000431533:I322V;ENSP00000278829:I437V;ENSP00000432206:I409V	.|ENSP00000278829:I437V	H|I	-|-	2|1	0|0	FADS3|FADS3	61397891|61397891	0.000000|0.000000	0.05858|0.05858	0.060000|0.060000	0.19600|0.19600	0.985000|0.985000	0.73830|0.73830	-1.292000|-1.292000	0.02772|0.02772	-0.644000|-0.644000	0.05465|0.05465	0.454000|0.454000	0.30748|0.30748	CAT|ATC		0.622	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394836.1			3	28	0	0	0	0.00024832	0	3	28				
KIN	22944	broad.mit.edu	37	10	7822139	7822139	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr10:7822139T>G	ENST00000379562.4	-	4	303	c.256A>C	c.(256-258)Act>Cct	p.T86P	KIN_ENST00000543003.1_5'UTR|KIN_ENST00000535925.1_Missense_Mutation_p.T86P	NM_012311.3	NP_036443.1			Kin17 DNA and RNA binding protein											endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						ACCCTTTTAGTGCCTGAGAAC	0.388																																						ENST00000379562.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						c.(256-258)Act>Cct		KIN, antigenic determinant of recA protein homolog (mouse)							268.0	237.0	247.0					10																	7822139		2203	4300	6503	SO:0001583	missense	22944				DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding	g.chr10:7822139T>G	AJ005273	CCDS7080.1	10p15-p14	2014-07-15	2014-07-15		ENSG00000151657	ENSG00000151657			6327	protein-coding gene	gene with protein product		601720	"""antigenic determinant of recA protein (mouse) homolog"", ""KIN, antigenic determinant of recA protein homolog (mouse)"""			1923796, 24140279	Standard	NM_012311		Approved	KIN17, Rts2	uc001ijt.3	O60870	OTTHUMG00000017634	ENST00000379562.4:c.256A>C	10.37:g.7822139T>G	ENSP00000368881:p.Thr86Pro					KIN_ENST00000535925.1_Missense_Mutation_p.T86P|KIN_ENST00000543003.1_5'UTR	p.T86P			O60870	KIN17_HUMAN			4	303	-			86						Missense_Mutation	SNP	ENST00000379562.4	37	c.256A>C	CCDS7080.1	.	.	.	.	.	.	.	.	.	.	T	19.37	3.814667	0.70912	.	.	ENSG00000151657	ENST00000535925;ENST00000379562	.	.	.	5.65	5.65	0.86999	DNA/RNA-binding protein Kin17, conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.84566	0.5500	M	0.92026	3.265	0.80722	D	1	D;D	0.60575	0.988;0.988	D;D	0.80764	0.994;0.994	D	0.86135	0.1577	9	0.39692	T	0.17	-12.7564	14.4602	0.67442	0.0:0.0:0.0:1.0	.	86;86	B4DX32;O60870	.;KIN17_HUMAN	P	86	.	ENSP00000368881:T86P	T	-	1	0	KIN	7862145	1.000000	0.71417	0.973000	0.42090	0.602000	0.36980	6.093000	0.71422	2.149000	0.67028	0.533000	0.62120	ACT		0.388	KIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046683.2	NM_012311		31	78	0	0	0	0.00209593	0	31	78				
CDH3	1001	broad.mit.edu	37	16	68732283	68732283	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr16:68732283G>A	ENST00000264012.4	+	16	3014	c.2470G>A	c.(2470-2472)Ggt>Agt	p.G824S	CDH3_ENST00000429102.2_3'UTR|CDH3_ENST00000581171.1_Missense_Mutation_p.G769S	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	824					adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		AGACATGTACGGTGGCGGGGA	0.617																																						ENST00000264012.4																			2	Unknown(2)	p.?(2)	breast(2)	NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25						c.(2470-2472)Ggt>Agt		cadherin 3, type 1, P-cadherin (placental)							73.0	71.0	72.0					16																	68732283		2198	4300	6498	SO:0001583	missense	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68732283G>A	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.2470G>A	16.37:g.68732283G>A	ENSP00000264012:p.Gly824Ser					CDH3_ENST00000581171.1_Missense_Mutation_p.G769S|CDH3_ENST00000429102.2_3'UTR	p.G824S	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	16	3014	+		Ovarian(137;0.0564)	824					B2R6F4|Q05DI6	Missense_Mutation	SNP	ENST00000264012.4	37	c.2470G>A	CCDS10868.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996651	0.74818	.	.	ENSG00000062038	ENST00000264012;ENST00000542274	T	0.78707	-1.2	5.51	3.43	0.39272	Cadherin, cytoplasmic domain (1);	0.000000	0.42294	D	0.000732	D	0.87055	0.6082	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87621	0.2510	10	0.87932	D	0	.	8.8678	0.35298	0.0836:0.1515:0.7649:0.0	.	824	P22223	CADH3_HUMAN	S	824;769	ENSP00000264012:G824S	ENSP00000264012:G824S	G	+	1	0	CDH3	67289784	1.000000	0.71417	0.220000	0.23810	0.349000	0.29174	7.800000	0.85949	1.463000	0.47967	0.655000	0.94253	GGT		0.617	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		40	58	0	0	0	0.00285205	0	40	58				
HTT	3064	broad.mit.edu	37	4	3176835	3176835	+	Splice_Site	SNP	G	G	C			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr4:3176835G>C	ENST00000355072.5	+	33	4552		c.e33+1			NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin						anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTCAGATCAGGTTTGTCACTT	0.388																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.e33+1		huntingtin							171.0	151.0	157.0					4																	3176835		1860	4103	5963	SO:0001630	splice_region_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3176835G>C	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.4407+1G>C	4.37:g.3176835G>C								NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	33	4552	+		all_epithelial(65;0.18)						Q9UQB7	Splice_Site	SNP	ENST00000355072.5	37		CCDS43206.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814444	0.90790	.	.	ENSG00000197386	ENST00000355072	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4054	0.94646	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HTT	3146633	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.813000	0.99286	2.659000	0.90383	0.650000	0.86243	.		0.388	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111	Intron	10	117	0	0	0	0.000442599	0	10	117				
ZNF142	7701	broad.mit.edu	37	2	219505430	219505430	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr2:219505430G>C	ENST00000449707.1	-	9	4972	c.4551C>G	c.(4549-4551)tgC>tgG	p.C1517W	ZNF142_ENST00000411696.2_Missense_Mutation_p.C1517W	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1517					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGACCCACTTGCACTTGTAGC	0.493																																					Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(4549-4551)tgC>tgG		zinc finger protein 142							106.0	113.0	111.0					2																	219505430		2061	4215	6276	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219505430G>C	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.4551C>G	2.37:g.219505430G>C	ENSP00000408643:p.Cys1517Trp					ZNF142_ENST00000449707.1_Missense_Mutation_p.C1517W	p.C1517W			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	5330	-		Renal(207;0.0474)	1517					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.4551C>G	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250615	0.80135	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.18174	2.23;2.23	5.94	5.07	0.68467	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.35770	0.0943	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.08106	-1.0738	10	0.62326	D	0.03	-32.1027	15.1035	0.72303	0.0676:0.0:0.9324:0.0	.	1517;1354	P52746;A8MWU9	ZN142_HUMAN;.	W	1517	ENSP00000408643:C1517W;ENSP00000398798:C1517W	ENSP00000398798:C1517W	C	-	3	2	ZNF142	219213674	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.910000	0.87451	1.531000	0.49152	0.650000	0.86243	TGC		0.493	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		16	29	0	0	0	0.000566183	0	16	29				
POM121L9P	29774	broad.mit.edu	37	22	24659578	24659578	+	RNA	SNP	A	A	G			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr22:24659578A>G	ENST00000414583.2	+	0	3103					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		TGCGCAGGCCAACACTCACTG	0.617																																						ENST00000414583.2																			0																																																			0							g.chr22:24659578A>G	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659578A>G								NR_003714.1						0	3103	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.617	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		4	23	0	0	0	0.000602214	0	4	23				
NCAPG2	54892	broad.mit.edu	37	7	158443616	158443616	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr7:158443616G>A	ENST00000409423.1	-	25	3155	c.2983C>T	c.(2983-2985)Cag>Tag	p.Q995*	NCAPG2_ENST00000409339.3_Nonsense_Mutation_p.Q995*|NCAPG2_ENST00000356309.3_Nonsense_Mutation_p.Q995*|NCAPG2_ENST00000541468.1_Intron|NCAPG2_ENST00000275830.10_Intron|NCAPG2_ENST00000449727.2_Nonsense_Mutation_p.Q995*	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	995					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TGCCGAGACTGAACAGCAGTA	0.463																																						ENST00000409339.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39						c.(2983-2985)Cag>Tag		non-SMC condensin II complex, subunit G2							100.0	100.0	100.0					7																	158443616		1895	4120	6015	SO:0001587	stop_gained	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158443616G>A	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.2983C>T	7.37:g.158443616G>A	ENSP00000386569:p.Gln995*					NCAPG2_ENST00000356309.3_Nonsense_Mutation_p.Q995*|NCAPG2_ENST00000449727.2_Nonsense_Mutation_p.Q995*|NCAPG2_ENST00000275830.10_Intron|NCAPG2_ENST00000541468.1_Intron|NCAPG2_ENST00000409423.1_Nonsense_Mutation_p.Q995*	p.Q995*			Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	24	3096	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	995					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Nonsense_Mutation	SNP	ENST00000409423.1	37	c.2983C>T	CCDS43686.1	.	.	.	.	.	.	.	.	.	.	G	39	7.795532	0.98495	.	.	ENSG00000146918	ENST00000356309;ENST00000409423;ENST00000409339;ENST00000545393;ENST00000449727	.	.	.	5.11	5.11	0.69529	.	0.062950	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-19.8354	17.5121	0.87763	0.0:0.0:1.0:0.0	.	.	.	.	X	995;995;995;438;995	.	ENSP00000348657:Q995X	Q	-	1	0	NCAPG2	158136377	1.000000	0.71417	0.948000	0.38648	0.210000	0.24377	6.362000	0.73077	2.354000	0.79902	0.655000	0.94253	CAG		0.463	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		12	98	0	0	0	0.00136819	0	12	98				
TP53BP1	7158	broad.mit.edu	37	15	43748753	43748753	+	Nonsense_Mutation	SNP	T	T	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr15:43748753T>A	ENST00000263801.3	-	12	2290	c.2038A>T	c.(2038-2040)Aaa>Taa	p.K680*	TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.K685*|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.K685*|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.K685*|TP53BP1_ENST00000605155.1_5'Flank	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	680					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TTTTCTTCTTTGAGTTCCTCT	0.443								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(2038-2040)Aaa>Taa	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							97.0	102.0	101.0					15																	43748753		2201	4298	6499	SO:0001587	stop_gained	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43748753T>A	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2038A>T	15.37:g.43748753T>A	ENSP00000263801:p.Lys680*					TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.K685*|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.K685*|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.K685*	p.K680*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	12	2290	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	680					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Nonsense_Mutation	SNP	ENST00000263801.3	37	c.2038A>T	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	T	38	6.870283	0.97901	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	.	.	.	4.41	3.25	0.37280	.	0.766120	0.12532	N	0.460678	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8095	5.5694	0.17188	0.0:0.0885:0.1756:0.7359	.	.	.	.	X	680;685;685;685;685	.	ENSP00000263801:K680X	K	-	1	0	TP53BP1	41536045	0.445000	0.25657	0.703000	0.30354	0.504000	0.33889	1.223000	0.32527	0.805000	0.34159	0.460000	0.39030	AAA		0.443	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			10	127	0	0	0	0.000442599	0	10	127				
C2orf44	80304	broad.mit.edu	37	2	24261454	24261454	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr2:24261454C>G	ENST00000295148.4	-	2	968	c.911G>C	c.(910-912)aGa>aCa	p.R304T	C2orf44_ENST00000406895.3_Missense_Mutation_p.R304T	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	304									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCTTTTTTCTTAGACAAAT	0.373			T	ALK	NSCLC																																	ENST00000295148.4				Dom	yes		2	2p23.3	80304	T	chromosome 2 open reading frame 44			E	ALK		NSCLC	C2orf44/ALK(2)	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24						c.(910-912)aGa>aCa		chromosome 2 open reading frame 44							60.0	61.0	60.0					2																	24261454		2203	4300	6503	SO:0001583	missense	80304						protein binding	g.chr2:24261454C>G	AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.911G>C	2.37:g.24261454C>G	ENSP00000295148:p.Arg304Thr					C2orf44_ENST00000406895.3_Missense_Mutation_p.R304T	p.R304T	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN			2	968	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		304					D6W532|Q8IYK0|Q9HBP5	Missense_Mutation	SNP	ENST00000295148.4	37	c.911G>C	CCDS1705.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846351	0.51164	.	.	ENSG00000163026	ENST00000295148;ENST00000406895	T;T	0.56103	0.48;0.48	5.6	3.39	0.38822	WD40/YVTN repeat-like-containing domain (1);	0.157288	0.56097	D	0.000021	T	0.51432	0.1674	M	0.71581	2.175	0.33505	D	0.590419	P;P	0.49358	0.923;0.923	P;P	0.46110	0.504;0.504	T	0.66744	-0.5846	10	0.87932	D	0	-7.4331	5.0358	0.14434	0.0:0.5973:0.2044:0.1983	.	304;304	Q9H6R7-2;Q9H6R7	.;CB044_HUMAN	T	304	ENSP00000295148:R304T;ENSP00000385816:R304T	ENSP00000295148:R304T	R	-	2	0	C2orf44	24114958	0.146000	0.22672	0.085000	0.20634	0.781000	0.44180	0.662000	0.25038	1.481000	0.48307	0.655000	0.94253	AGA		0.373	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	NM_025203		13	54	0	0	0	0.00136819	0	13	54				
UNC13D	201294	broad.mit.edu	37	17	73838576	73838576	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr17:73838576C>G	ENST00000207549.4	-	6	886	c.507G>C	c.(505-507)gaG>gaC	p.E169D	UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Missense_Mutation_p.E169D	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	169	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCGGTGGGTCTCCTCCTCGG	0.667									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000207549.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(505-507)gaG>gaC		unc-13 homolog D (C. elegans)							97.0	80.0	86.0					17																	73838576		2203	4300	6503	SO:0001583	missense	201294	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	g.chr17:73838576C>G	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.507G>C	17.37:g.73838576C>G	ENSP00000207549:p.Glu169Asp					UNC13D_ENST00000412096.2_Missense_Mutation_p.E169D|UNC13D_ENST00000587504.1_5'UTR	p.E169D	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		6	886	-			169			C2 1.		B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	37	c.507G>C	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	C	9.710	1.156943	0.21454	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.70282	-0.45;-0.47	4.45	4.45	0.53987	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.267677	0.30667	N	0.009135	T	0.60766	0.2294	L	0.41079	1.255	0.22185	N	0.999302	B	0.27971	0.196	B	0.30943	0.122	T	0.49457	-0.8938	10	0.20519	T	0.43	-9.4632	12.6112	0.56552	0.0:0.9163:0.0:0.0837	.	169	Q70J99	UN13D_HUMAN	D	169	ENSP00000207549:E169D;ENSP00000388093:E169D	ENSP00000207549:E169D	E	-	3	2	UNC13D	71350171	0.999000	0.42202	1.000000	0.80357	0.844000	0.47949	0.703000	0.25646	2.019000	0.59389	0.563000	0.77884	GAG		0.667	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		12	69	0	0	0	0.00136819	0	12	69				
GXYLT2	727936	broad.mit.edu	37	3	73016753	73016753	+	Silent	SNP	C	C	T	rs370320248		TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr3:73016753C>T	ENST00000389617.4	+	6	1193	c.1032C>T	c.(1030-1032)taC>taT	p.Y344Y		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	344					O-glycan processing (GO:0016266)	integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)	p.Y344Y(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						ACTGCATGTACGGAAGCAACT	0.498																																						ENST00000389617.4																			1	Substitution - coding silent(1)	p.Y344Y(1)	large_intestine(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						c.(1030-1032)taC>taT		glucoside xylosyltransferase 2		C		0,4108		0,0,2054	100.0	97.0	98.0		1032	-11.0	0.2	3		98	1,8403		0,1,4201	no	coding-synonymous	GXYLT2	NM_001080393.1		0,1,6255	TT,TC,CC		0.0119,0.0,0.0080		344/444	73016753	1,12511	2054	4202	6256	SO:0001819	synonymous_variant	727936				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	g.chr3:73016753C>T	AC098481	CCDS46870.1	3p13	2013-02-22	2009-11-17	2009-11-17	ENSG00000172986	ENSG00000172986		"""Glycosyltransferase family 8 domain containing"""	33383	protein-coding gene	gene with protein product		613322	"""glycosyltransferase 8 domain containing 4"""	GLT8D4		19940119	Standard	NM_001080393		Approved		uc003dpg.3	A0PJZ3	OTTHUMG00000158815	ENST00000389617.4:c.1032C>T	3.37:g.73016753C>T							p.Y344Y	NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN			6	1193	+			344						Silent	SNP	ENST00000389617.4	37	c.1032C>T	CCDS46870.1																																																																																				0.498	GXYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352318.1	NM_001080393		5	19	0	0	0	0.000602214	0	5	19				
MYBPC3	4607	broad.mit.edu	37	11	47350634	47350634	+	IGR	SNP	C	C	T			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr11:47350634C>T	ENST00000545968.1	-	0	4217				MADD_ENST00000395344.3_Missense_Mutation_p.S1520L|MADD_ENST00000342922.4_Missense_Mutation_p.S1567L|MADD_ENST00000402192.2_Missense_Mutation_p.S1566L|MADD_ENST00000395336.3_3'UTR|MADD_ENST00000407859.3_Missense_Mutation_p.S1544L|MADD_ENST00000349238.3_Missense_Mutation_p.S1587L|MADD_ENST00000311027.5_Missense_Mutation_p.S1626L|MADD_ENST00000402799.1_Missense_Mutation_p.S1524L|MADD_ENST00000406482.1_3'UTR	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac						cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TGTCTCTTCTCGTACGTGGCT	0.557																																						ENST00000342922.4																			0				breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84						c.(4699-4701)tCg>tTg		MAP-kinase activating death domain							192.0	166.0	175.0					11																	47350634		2201	4298	6499	SO:0001628	intergenic_variant	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47350634C>T	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896			11.37:g.47350634C>T						MADD_ENST00000407859.3_Missense_Mutation_p.S1544L|MADD_ENST00000406482.1_3'UTR|MADD_ENST00000402799.1_Missense_Mutation_p.S1524L|MADD_ENST00000395336.3_3'UTR|MADD_ENST00000395344.3_Missense_Mutation_p.S1520L|MADD_ENST00000349238.3_Missense_Mutation_p.S1587L|MADD_ENST00000311027.5_Missense_Mutation_p.S1626L|MADD_ENST00000402192.2_Missense_Mutation_p.S1566L	p.S1567L	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	33	5057	+			1626					A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	c.4700C>T	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	C	36	5.737356	0.96865	.	.	ENSG00000110514	ENST00000342922;ENST00000402799;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000402192	T;T;T;T;T;T;T	0.10192	3.03;2.91;3.02;3.05;2.9;2.9;3.04	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	M	0.64170	1.965	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;0.999;0.998;1.0	D;D;D;D;D;D;D	0.83275	0.978;0.984;0.99;0.996;0.993;0.99;0.996	T	0.01068	-1.1462	10	0.87932	D	0	-6.8112	20.0016	0.97412	0.0:1.0:0.0:0.0	.	1520;1520;1524;1587;1544;1626;1567	B5MEE5;A8K8S7;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;MADD_HUMAN;.	L	1567;1524;1587;1626;1544;1520;1566	ENSP00000343902:S1567L;ENSP00000385585:S1524L;ENSP00000304505:S1587L;ENSP00000310933:S1626L;ENSP00000384204:S1544L;ENSP00000378753:S1520L;ENSP00000384287:S1566L	ENSP00000310933:S1626L	S	+	2	0	MADD	47307210	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.023000	0.76437	2.731000	0.93534	0.555000	0.69702	TCG		0.557	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			80	121	0	0	0	0.000781405	0	80	121				
ZNF827	152485	broad.mit.edu	37	4	146823855	146823855	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr4:146823855T>G	ENST00000508784.1	-	2	783	c.556A>C	c.(556-558)Agt>Cgt	p.S186R	ZNF827_ENST00000379448.4_Missense_Mutation_p.S186R|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	186					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					AAACGGTTACTTGGAGTGTAT	0.517																																						ENST00000508784.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(556-558)Agt>Cgt		zinc finger protein 827							91.0	84.0	86.0					4																	146823855		2203	4300	6503	SO:0001583	missense	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146823855T>G	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.556A>C	4.37:g.146823855T>G	ENSP00000421863:p.Ser186Arg					ZNF827_ENST00000379448.4_Missense_Mutation_p.S186R|ZNF827_ENST00000513320.1_Intron	p.S186R			Q17R98	ZN827_HUMAN			2	783	-	all_hematologic(180;0.151)		186					B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37	c.556A>C		.	.	.	.	.	.	.	.	.	.	T	13.30	2.196780	0.38806	.	.	ENSG00000151612	ENST00000508784;ENST00000379448;ENST00000281318	T;T	0.09445	2.98;3.02	5.77	4.4	0.53042	.	0.159855	0.64402	D	0.000002	T	0.08313	0.0207	N	0.24115	0.695	0.36397	D	0.86286	B;B	0.31859	0.232;0.343	B;B	0.30646	0.055;0.118	T	0.20739	-1.0266	10	0.72032	D	0.01	-3.1288	11.6707	0.51399	0.0:0.1237:0.0:0.8763	.	186;186	Q17R98;Q17R98-2	ZN827_HUMAN;.	R	186;186;185	ENSP00000421863:S186R;ENSP00000368761:S186R	ENSP00000281318:S185R	S	-	1	0	ZNF827	147043305	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.462000	0.35266	2.206000	0.71126	0.459000	0.35465	AGT		0.517	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		6	83	0	0	0	0.00116845	0	6	83				
HOXB13	10481	broad.mit.edu	37	17	46805442	46805442	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr17:46805442A>C	ENST00000290295.7	-	1	1098	c.514T>G	c.(514-516)Tgg>Ggg	p.W172G	PRAC2_ENST00000422730.2_RNA	NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	172					angiogenesis (GO:0001525)|epidermis development (GO:0008544)|epithelial cell maturation involved in prostate gland development (GO:0060743)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|response to wounding (GO:0009611)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						GCGAGAGCCCAAGACTGGTAA	0.567																																						ENST00000290295.7																			0				endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						c.(514-516)Tgg>Ggg		homeobox B13							76.0	72.0	73.0					17																	46805442		2203	4300	6503	SO:0001583	missense	10481				angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46805442A>C	U57052	CCDS11536.1	17q21.32	2014-09-17	2005-12-22		ENSG00000159184	ENSG00000159184		"""Homeoboxes / ANTP class : HOXL subclass"""	5112	protein-coding gene	gene with protein product		604607	"""homeo box B13"""			8756292, 9665387	Standard	NM_006361		Approved		uc002ioa.3	Q92826	OTTHUMG00000159900	ENST00000290295.7:c.514T>G	17.37:g.46805442A>C	ENSP00000290295:p.Trp172Gly						p.W172G	NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN			1	1098	-			172					B2R878|Q96QM4|Q99810	Missense_Mutation	SNP	ENST00000290295.7	37	c.514T>G	CCDS11536.1	.	.	.	.	.	.	.	.	.	.	A	19.53	3.845232	0.71603	.	.	ENSG00000159184	ENST00000290295	D	0.92249	-3.0	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.95840	0.8646	M	0.83603	2.65	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.96343	0.9252	10	0.87932	D	0	.	13.3212	0.60434	1.0:0.0:0.0:0.0	.	172	Q92826	HXB13_HUMAN	G	172	ENSP00000290295:W172G	ENSP00000290295:W172G	W	-	1	0	HOXB13	44160441	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	8.761000	0.91691	2.023000	0.59567	0.459000	0.35465	TGG		0.567	HOXB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358087.3	NM_006361		30	41	0	0	0	0.00178596	0	30	41				
LCE2D	353141	broad.mit.edu	37	1	152636615	152636615	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr1:152636615delC	ENST00000368784.1	+	2	89	c.34delC	c.(34-36)cccfs	p.P14fs		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	14	Cys-rich.				keratinization (GO:0031424)					large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGTGCCAGCCCCCTCCCAA	0.493																																						ENST00000368784.1																			0				large_intestine(1)|lung(7)|prostate(2)	10						c.(34-36)ccfs		late cornified envelope 2D							106.0	112.0	110.0					1																	152636615		2203	4300	6503	SO:0001589	frameshift_variant	353141				keratinization			g.chr1:152636615delC	BI670513	CCDS1018.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000187223	ENSG00000187223		"""Late cornified envelopes"""	16518	protein-coding gene	gene with protein product		612612	"""small proline rich-like (epidermal differentiation complex) 1A"""	SPRL1A		11698679	Standard	NM_178430		Approved	LEP12	uc001fag.4	Q5TA82	OTTHUMG00000014400	ENST00000368784.1:c.34delC	1.37:g.152636615delC	ENSP00000357773:p.Pro14fs						p.P14fs	NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	89	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		14			Cys-rich.		A1L4M8	Frame_Shift_Del	DEL	ENST00000368784.1	37	c.34delC	CCDS1018.1																																																																																				0.493	LCE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040058.1	NM_178430		15	145						15	145	---	---	---	---
RPLP0P6	220717	broad.mit.edu	37	2	38710012	38710013	+	lincRNA	INS	-	-	A	rs71402229|rs56728844		TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr2:38710012_38710013insA	ENST00000417039.1	-	0	696																											CTTACTTCTTtaaaaaataaat	0.252																																						ENST00000417039.1																			0																																																			0							g.chr2:38710012_38710013insA																													2.37:g.38710018_38710018dupA														0	696	-									RNA	INS	ENST00000417039.1	37																																																																																						0.252	AC016995.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331173.1			4	5						4	5	---	---	---	---
CHDH	55349	broad.mit.edu	37	3	53857978	53857992	+	In_Frame_Del	DEL	CCAGGGCTCCCCGTG	CCAGGGCTCCCCGTG	-	rs200094235|rs61746180|rs557197311	byFrequency	TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr3:53857978_53857992delCCAGGGCTCCCCGTG	ENST00000315251.6	-	3	481_495	c.44_58delCACGGGGAGCCCTGG	c.(43-60)gcacggggagccctgggg>ggg	p.ARGAL15del		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	15					glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	TGCTGCTGCCCCAGGGCTCCCCGTGCCAGGGCTCC	0.665														3	0.000599042	0.0	0.0	5008	,	,		16626	0.0		0.003	False		,,,				2504	0.0					ENST00000315251.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17						c.(43-60)ggg>g		choline dehydrogenase	Choline(DB00122)			3,2879		1,1,1439						3.4	0.2			4	17,5595		5,7,2794	no	coding	CHDH	NM_018397.4		6,8,4233	A1A1,A1R,RR		0.3029,0.1041,0.2355				20,8474				SO:0001651	inframe_deletion	55349				alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:53857978_53857992delCCAGGGCTCCCCGTG	AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.44_58delCACGGGGAGCCCTGG	3.37:g.53857978_53857992delCCAGGGCTCCCCGTG	ENSP00000319851:p.Ala15_Leu19del						p.ARGALG15del	NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	3	481_495	-		Hepatocellular(537;0.152)	15					Q9NY17	In_Frame_Del	DEL	ENST00000315251.6	37	c.44_58delCACGGGGAGCCCTGG	CCDS2873.1																																																																																				0.665	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350567.2	NM_018397		3	4						3	4	---	---	---	---
SRSF1	6426	broad.mit.edu	37	17	56083248	56083249	+	Frame_Shift_Ins	INS	-	-	A			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr17:56083248_56083249insA	ENST00000258962.4	-	3	673_674	c.465_466insT	c.(463-468)gatggcfs	p.G156fs	SRSF1_ENST00000585096.1_Intron|SRSF1_ENST00000581497.1_5'Flank|SRSF1_ENST00000582730.2_Frame_Shift_Ins_p.G156fs|SRSF1_ENST00000584773.1_Frame_Shift_Ins_p.G156fs|RP11-159D12.5_ENST00000578794.1_5'Flank	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	156	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACACCAGTGCCATCTCGGTAAA	0.426																																						ENST00000582730.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(463-468)gagcacfs		serine/arginine-rich splicing factor 1																																				SO:0001589	frameshift_variant	6426				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding	g.chr17:56083248_56083249insA		CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10780	protein-coding gene	gene with protein product	"""splicing factor 2"", ""pre-mRNA-splicing factor SF2, P33 subunit"", ""alternate splicing factor"", ""SR splicing factor 1"""	600812	"""splicing factor, arginine/serine-rich 1"""	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.466dupT	17.37:g.56083249_56083249dupA	ENSP00000258962:p.Gly156fs					SRSF1_ENST00000584773.1_Frame_Shift_Ins_p.EH155fs|SRSF1_ENST00000585096.1_Intron|SRSF1_ENST00000258962.4_Frame_Shift_Ins_p.EH155fs	p.EH155fs	NM_001078166.1	NP_001071634.1	Q07955	SRSF1_HUMAN			3	588_589	-			155			RRM 2.		B2R6Z7|D3DTZ3|Q13809	Frame_Shift_Ins	INS	ENST00000258962.4	37	c.465_466insT	CCDS11600.1																																																																																				0.426	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443335.1	NM_006924		22	50						22	50	---	---	---	---
