#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_ACHILLES_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
SLC35E2B	728661	broad.mit.edu	37	1	1599899	1599899	+	Missense_Mutation	SNP	T	T	C	rs200570843	byFrequency	TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr1:1599899T>C	ENST00000378662.1	-	9	1607	c.847A>G	c.(847-849)Atc>Gtc	p.I283V	SLC35E2B_ENST00000234800.6_Missense_Mutation_p.I283V			P0CK96	S352B_HUMAN	solute carrier family 35, member E2B	283						integral component of membrane (GO:0016021)		p.I283V(2)		kidney(1)|lung(1)	2						CTCCTCCCGATCACTGGGACG	0.542																																							uc001ahf.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(847-849)ATC>GTC		similar to solute carrier family 35, member E2																																				SO:0001583	missense	728661					integral to membrane		g.chr1:1599899T>C		CCDS44041.1	1p36.33	2013-05-22			ENSG00000189339	ENSG00000189339		"""Solute carriers"""	33941	protein-coding gene	gene with protein product							Standard	XM_006710870		Approved		uc001ahg.4	P0CK96	OTTHUMG00000078639	ENST00000378662.1:c.847A>G	1.37:g.1599899T>C	ENSP00000367931:p.Ile283Val					CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc009vkl.1_Missense_Mutation_p.D200G|SLC35E2B_uc001ahe.3_Missense_Mutation_p.D65G|SLC35E2B_uc001ahg.3_Missense_Mutation_p.I283V|SLC35E2B_uc001ahh.3_Missense_Mutation_p.I283V	p.I283V	NM_001110781	NP_001104251	P0CK96	S352B_HUMAN			9	1768	-			283			Helical; (Potential).		B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q9Y3J8	Missense_Mutation	SNP	ENST00000378662.1	37	c.847A>G	CCDS44041.1	.	.	.	.	.	.	.	.	.	.	t	4.199	0.035601	0.08148	.	.	ENSG00000189339	ENST00000378662;ENST00000234800	T;T	0.62639	0.01;0.01	5.07	3.94	0.45596	Domain of unknown function DUF250 (1);	0.368313	0.24927	N	0.034481	T	0.47021	0.1423	L	0.31845	0.965	0.28806	N	0.898528	B	0.02656	0.0	B	0.09377	0.004	T	0.32955	-0.9887	10	0.18276	T	0.48	-17.8471	10.1844	0.42988	0.0:0.0789:0.0:0.9211	.	283	P0CK96	S352B_HUMAN	V	283	ENSP00000367931:I283V;ENSP00000234800:I283V	ENSP00000234800:I283V	I	-	1	0	SLC35E2B	1589762	1.000000	0.71417	0.938000	0.37757	0.200000	0.23975	1.210000	0.32370	0.882000	0.36016	0.460000	0.39030	ATC		0.542	SLC35E2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171589.1			14	69	0	0	0	0.008871	0	14	69				
PRDM2	7799	broad.mit.edu	37	1	14142945	14142945	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr1:14142945G>A	ENST00000235372.7	+	9	5916	c.5060G>A	c.(5059-5061)cGa>cAa	p.R1687Q	PRDM2_ENST00000376048.5_Missense_Mutation_p.D179N|PRDM2_ENST00000505823.1_Missense_Mutation_p.D15N|PRDM2_ENST00000503842.1_Missense_Mutation_p.D15N	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1687					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R1687Q(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TTGGCGTCCCGATGCTCTCCA	0.587																																							uc001avi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(5059-5061)CGA>CAA		retinoblastoma protein-binding zinc finger							85.0	82.0	83.0					1																	14142945		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14142945G>A	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.5060G>A	1.37:g.14142945G>A	ENSP00000235372:p.Arg1687Gln					PRDM2_uc001avg.2_Missense_Mutation_p.D179N|PRDM2_uc009voe.2_RNA|PRDM2_uc009vof.2_RNA	p.R1687Q	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	9	5916	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	1687					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.5060G>A	CCDS150.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.06|18.06	3.538392|3.538392	0.65085|0.65085	.|.	.|.	ENSG00000116731|ENSG00000116731	ENST00000376048;ENST00000503842;ENST00000505823|ENST00000235372	T|T	0.54479|0.01599	0.57|4.74	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	.|0.000000	.|0.48767	.|D	.|0.000164	T|T	0.03520|0.03520	0.0101|0.0101	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B|D	0.27416|0.69078	0.178|0.997	B|D	0.19391|0.70227	0.025|0.968	T|T	0.63752|0.63752	-0.6566|-0.6566	9|10	0.17832|0.87932	T|D	0.49|0	.|.	13.8205|13.8205	0.63318|0.63318	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	179|1687	B1AJZ4|Q13029	.|PRDM2_HUMAN	N|Q	179;15;15|1687	ENSP00000365216:D179N|ENSP00000235372:R1687Q	ENSP00000365216:D179N|ENSP00000235372:R1687Q	D|R	+|+	1|2	0|0	PRDM2|PRDM2	14015532|14015532	0.971000|0.971000	0.33674|0.33674	0.704000|0.704000	0.30370|0.30370	0.918000|0.918000	0.54935|0.54935	4.414000|4.414000	0.59802|0.59802	2.615000|2.615000	0.88500|0.88500	0.655000|0.655000	0.94253|0.94253	GAT|CGA		0.587	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		19	38	0	0	0	0.001882	0	19	38				
Unknown	0	broad.mit.edu	37	1	16975289	16975289	+	IGR	SNP	T	T	A	rs200220176		TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr1:16975289T>A								CROCCP2 (14235 upstream) : RNU1-3 (17990 downstream)																							CCCCCCCAGGTTAGGAGTTGG	0.577																																							uc010och.1		NA																	0					0						c.e8+2		Homo sapiens cDNA FLJ43241 fis, clone HEART1000010, weakly  similar to Hepatocyte growth factor-like protein precursor.																																				SO:0001628	intergenic_variant	11209							g.chr1:16975289T>A																													1.37:g.16975289T>A						MST1P2_uc001azl.3_Splice_Site|MST1P2_uc009vox.2_Splice_Site|MST1P2_uc001azm.3_RNA		NR_027504						8		+									Splice_Site	SNP		37	c.1656_splice																																																																																				0	0.577									14	74	0	0	0	0.004007	0	14	74				
UBR4	23352	broad.mit.edu	37	1	19448475	19448475	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr1:19448475G>A	ENST00000375254.3	-	67	9875	c.9848C>T	c.(9847-9849)gCc>gTc	p.A3283V	UBR4_ENST00000375267.2_Missense_Mutation_p.A3283V|UBR4_ENST00000375226.2_Missense_Mutation_p.A3259V|UBR4_ENST00000375217.2_Missense_Mutation_p.A3276V	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3283					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A3283V(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCGCTGGGCGGCAATCTCTGC	0.478																																							uc001bbi.2		NA																	1	Substitution - Missense(1)		lung(1)	kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(9847-9849)GCC>GTC		retinoblastoma-associated factor 600							114.0	98.0	103.0					1																	19448475		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19448475G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.9848C>T	1.37:g.19448475G>A	ENSP00000364403:p.Ala3283Val					UBR4_uc001bbk.1_Missense_Mutation_p.A930V	p.A3283V	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	67	9852	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	3283					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.9848C>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	35	5.516992	0.96416	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.50001	0.77;0.76;0.79;0.79	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.69468	0.3114	M	0.75085	2.285	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.70920	-0.4741	10	0.66056	D	0.02	.	18.5795	0.91166	0.0:0.0:1.0:0.0	.	3283	Q5T4S7	UBR4_HUMAN	V	3283;3283;3276;3259;891;1969	ENSP00000364403:A3283V;ENSP00000364416:A3283V;ENSP00000364365:A3276V;ENSP00000364374:A3259V	ENSP00000364365:A3276V	A	-	2	0	UBR4	19321062	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.173000	0.94815	2.817000	0.96982	0.643000	0.83706	GCC		0.478	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		3	30	0	0	0	0.004672	0	3	30				
INADL	10207	broad.mit.edu	37	1	62349930	62349930	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr1:62349930A>G	ENST00000371158.2	+	22	3095	c.2981A>G	c.(2980-2982)cAa>cGa	p.Q994R	INADL_ENST00000316485.6_Missense_Mutation_p.Q994R	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	994					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.Q994R(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AATGATGTCCAAGGTCCTAGC	0.458																																							uc001dab.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2980-2982)CAA>CGA		InaD-like							185.0	168.0	174.0					1																	62349930		2203	4300	6503	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62349930A>G	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.2981A>G	1.37:g.62349930A>G	ENSP00000360200:p.Gln994Arg					INADL_uc009waf.1_Missense_Mutation_p.Q994R|INADL_uc001daa.2_Missense_Mutation_p.Q994R|INADL_uc001dad.3_Missense_Mutation_p.Q691R|INADL_uc001dac.2_RNA	p.Q994R	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			22	3095	+			994					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.2981A>G	CCDS617.2	.	.	.	.	.	.	.	.	.	.	A	3.137	-0.177140	0.06380	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.12569	2.8;2.67	5.06	3.91	0.45181	.	0.304109	0.29126	N	0.013069	T	0.13884	0.0336	M	0.63428	1.95	0.20926	N	0.999825	B;B;B	0.28933	0.228;0.091;0.228	B;B;B	0.27796	0.053;0.024;0.083	T	0.17715	-1.0360	10	0.25751	T	0.34	.	8.7228	0.34452	0.8079:0.1921:0.0:0.0	.	994;994;994	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	R	994	ENSP00000360200:Q994R;ENSP00000326199:Q994R	ENSP00000255202:Q994R	Q	+	2	0	INADL	62122518	0.007000	0.16637	0.024000	0.17045	0.013000	0.08279	1.038000	0.30254	0.931000	0.37242	0.408000	0.27601	CAA		0.458	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		56	130	0	0	0	0.00361	0	56	130				
DBT	1629	broad.mit.edu	37	1	100676288	100676288	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr1:100676288C>A	ENST00000370132.4	-	8	992	c.979G>T	c.(979-981)Gct>Tct	p.A327S	DBT_ENST00000370131.3_3'UTR	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	327					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity (GO:0043754)	p.A327T(1)|p.A327S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TCCACAGAAGCGTTAAGGATA	0.338																																							uc001dta.2		NA																	2	Substitution - Missense(2)	p.A327T(1)	lung(1)|pancreas(1)	pancreas(1)	1						c.(979-981)GCT>TCT		dihydrolipoamide branched chain transacylase							116.0	118.0	117.0					1																	100676288		2203	4300	6503	SO:0001583	missense	1629				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	g.chr1:100676288C>A	BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"""dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"""			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.979G>T	1.37:g.100676288C>A	ENSP00000359151:p.Ala327Ser					DBT_uc010oug.1_Missense_Mutation_p.A146S	p.A327S	NM_001918	NP_001909	P11182	ODB2_HUMAN		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)	8	1012	-		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	327					B2R811|Q5VVL8	Missense_Mutation	SNP	ENST00000370132.4	37	c.979G>T	CCDS767.1	.	.	.	.	.	.	.	.	.	.	C	7.468	0.646101	0.14451	.	.	ENSG00000137992	ENST00000543138;ENST00000370132	T	0.40476	1.03	5.53	3.59	0.41128	2-oxoacid dehydrogenase acyltransferase, catalytic domain (1);Chloramphenicol acetyltransferase-like domain (1);	0.172012	0.51477	D	0.000087	T	0.16514	0.0397	N	0.17901	0.54	0.80722	D	1	B;B	0.13145	0.001;0.007	B;B	0.40940	0.077;0.344	T	0.14868	-1.0457	10	0.02654	T	1	-15.8113	13.8724	0.63626	0.3725:0.6275:0.0:0.0	.	146;327	F5H1F9;P11182	.;ODB2_HUMAN	S	146;327	ENSP00000359151:A327S	ENSP00000359151:A327S	A	-	1	0	DBT	100448876	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	0.865000	0.27940	0.759000	0.33084	0.561000	0.74099	GCT		0.338	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030101.2	NM_001918		20	75	1	0	1.50039e-11	0.001882	1.94098e-11	20	75				
KIAA1324	57535	broad.mit.edu	37	1	109707159	109707159	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr1:109707159G>T	ENST00000369939.3	+	3	496	c.313G>T	c.(313-315)Gac>Tac	p.D105Y	KIAA1324_ENST00000529753.1_Missense_Mutation_p.D105Y	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	105					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)	p.D105Y(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GGATATGAAGGACCAGTCATG	0.587																																							uc001dwq.2		NA																	1	Substitution - Missense(1)	p.D105E(1)	lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	5						c.(313-315)GAC>TAC		hypothetical protein LOC57535 precursor							126.0	123.0	124.0					1																	109707159		2203	4300	6503	SO:0001583	missense	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109707159G>T	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.313G>T	1.37:g.109707159G>T	ENSP00000358955:p.Asp105Tyr					KIAA1324_uc009wex.1_Missense_Mutation_p.D105Y|KIAA1324_uc009wey.2_Missense_Mutation_p.D105Y|KIAA1324_uc010ovg.1_Missense_Mutation_p.D3Y	p.D105Y	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	4	449	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	105			Extracellular (Potential).		Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	c.313G>T	CCDS794.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.373743	0.42105	.	.	ENSG00000116299	ENST00000531664;ENST00000534476;ENST00000526264;ENST00000369939;ENST00000457623;ENST00000529753	T;T;T;T;T;D	0.97620	0.89;1.46;0.89;1.36;1.36;-4.46	6.04	4.2	0.49525	.	0.530450	0.22284	N	0.062083	D	0.91788	0.7402	L	0.29908	0.895	0.25989	N	0.982275	P;P;P;P	0.48503	0.911;0.504;0.911;0.739	B;B;P;B	0.46026	0.292;0.237;0.501;0.292	D	0.87116	0.2188	10	0.66056	D	0.02	-16.3277	11.8048	0.52147	0.1845:0.0:0.8155:0.0	.	105;105;105;105	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	Y	105	ENSP00000431349:D105Y;ENSP00000432164:D105Y;ENSP00000435066:D105Y;ENSP00000358955:D105Y;ENSP00000393964:D105Y;ENSP00000434595:D105Y	ENSP00000358955:D105Y	D	+	1	0	KIAA1324	109508682	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	1.685000	0.37659	0.915000	0.36847	-0.969000	0.02612	GAC		0.587	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		36	114	1	0	6.97489e-18	0.004878	9.55384e-18	36	114				
NBPF15	284565	broad.mit.edu	37	1	148594621	148594621	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr1:148594621G>A	ENST00000369187.3	+	19	2483	c.1994G>A	c.(1993-1995)gGa>gAa	p.G665E	NBPF15_ENST00000442702.2_Missense_Mutation_p.G665E	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	665	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.G665E(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					TTCCAGATGGGAGTCATATTC	0.443																																							uc001esc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1993-1995)GGA>GAA		hypothetical protein LOC284565							23.0	30.0	28.0					1																	148594621		1911	4137	6048	SO:0001583	missense	284565					cytoplasm		g.chr1:148594621G>A	BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"""neuroblastoma breakpoint family"""	28791	protein-coding gene	gene with protein product		610414, 614005	"""neuroblastoma breakpoint family, member 16"""	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.1994G>A	1.37:g.148594621G>A	ENSP00000358188:p.Gly665Glu						p.G665E	NM_173638	NP_775909	Q8N660	NBPFF_HUMAN			19	2483	+	all_hematologic(923;0.032)		665			NBPF 6.		Q3BBV9|Q8IX77	Missense_Mutation	SNP	ENST00000369187.3	37	c.1994G>A	CCDS932.1	.	.	.	.	.	.	.	.	.	.	.	0.185	-1.059004	0.01950	.	.	ENSG00000243452	ENST00000442702;ENST00000369187	T;T	0.03212	4.01;4.01	0.502	-1.0	0.10196	DUF1220 (1);	.	.	.	.	T	0.01061	0.0035	L	0.59436	1.845	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47289	-0.9129	8	0.38643	T	0.18	.	.	.	.	.	665	Q8N660	NBPFF_HUMAN	E	665	ENSP00000416864:G665E;ENSP00000358188:G665E	ENSP00000358188:G665E	G	+	2	0	NBPF15	146861245	0.005000	0.15991	0.002000	0.10522	0.008000	0.06430	-1.627000	0.02033	-1.312000	0.02306	-0.893000	0.02921	GGA		0.443	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038609.3	NM_173638		5	191	0	0	0	0.001984	0	5	191				
BRINP3	339479	broad.mit.edu	37	1	190068054	190068054	+	Silent	SNP	G	G	T	rs370368224		TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr1:190068054G>T	ENST00000367462.3	-	8	1626	c.1395C>A	c.(1393-1395)acC>acA	p.T465T	BRINP3_ENST00000534846.1_Silent_p.T363T	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	465					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.T465T(1)									GCATGTAGCCGGTGTTGCAGG	0.597																																							uc001gse.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1393-1395)ACC>ACA		family with sequence similarity 5, member C							88.0	89.0	89.0					1																	190068054		2203	4300	6503	SO:0001819	synonymous_variant	339479					extracellular region		g.chr1:190068054G>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1395C>A	1.37:g.190068054G>T						FAM5C_uc010pot.1_Silent_p.T363T	p.T465T	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	1627	-	Prostate(682;0.198)		465					B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	ENST00000367462.3	37	c.1395C>A	CCDS1373.1																																																																																				0.597	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		52	109	1	0	1.42923e-14	0.00361	1.92532e-14	52	109				
SLC41A1	254428	broad.mit.edu	37	1	205760707	205760707	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr1:205760707T>A	ENST00000367137.3	-	11	2510	c.1496A>T	c.(1495-1497)cAt>cTt	p.H499L	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	499					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)	p.H499L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CCAGAGAACATGGAAGCTGAG	0.552											OREG0014162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001hdh.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1495-1497)CAT>CTT		solute carrier family 41 member 1							63.0	61.0	62.0					1																	205760707		2203	4300	6503	SO:0001583	missense	254428					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	g.chr1:205760707T>A	AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"""Solute carriers"""	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.1496A>T	1.37:g.205760707T>A	ENSP00000356105:p.His499Leu		OREG0014162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2154	SLC41A1_uc001hdg.1_Missense_Mutation_p.H120L	p.H499L	NM_173854	NP_776253	Q8IVJ1	S41A1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		11	2368	-	Breast(84;0.0799)		499			Helical; (Potential).		Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Missense_Mutation	SNP	ENST00000367137.3	37	c.1496A>T	CCDS30988.1	.	.	.	.	.	.	.	.	.	.	T	12.39	1.923982	0.34002	.	.	ENSG00000133065	ENST00000367137	T	0.27256	1.68	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.15912	0.0383	N	0.21508	0.67	0.80722	D	1	B	0.23854	0.092	B	0.25987	0.065	T	0.09773	-1.0659	10	0.09338	T	0.73	-17.965	10.1321	0.42685	0.0:0.0752:0.0:0.9248	.	499	Q8IVJ1	S41A1_HUMAN	L	499	ENSP00000356105:H499L	ENSP00000356105:H499L	H	-	2	0	SLC41A1	204027330	1.000000	0.71417	0.983000	0.44433	0.985000	0.73830	8.033000	0.88852	2.187000	0.69744	0.533000	0.62120	CAT		0.552	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087731.1			3	37	0	0	0	0.000248	0	3	37				
KCNK2	3776	broad.mit.edu	37	1	215342563	215342563	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr1:215342563G>T	ENST00000444842.2	+	4	647	c.497G>T	c.(496-498)cGc>cTc	p.R166L	KCNK2_ENST00000391894.2_Missense_Mutation_p.R151L|KCNK2_ENST00000391895.2_Missense_Mutation_p.R162L	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	166					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)	p.R166L(1)|p.R151L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	ATCTCACCACGCACAGAAGGC	0.368																																							uc001hkq.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(496-498)CGC>CTC		potassium channel, subfamily K, member 2 isoform	Dofetilide(DB00204)						136.0	140.0	138.0					1																	215342563		2203	4300	6503	SO:0001583	missense	3776						outward rectifier potassium channel activity	g.chr1:215342563G>T	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.497G>T	1.37:g.215342563G>T	ENSP00000394033:p.Arg166Leu					KCNK2_uc001hko.2_Missense_Mutation_p.R162L|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Missense_Mutation_p.R151L	p.R166L	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	4	666	+			166					A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	ENST00000444842.2	37	c.497G>T	CCDS41467.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.17|17.17	3.320824|3.320824	0.60634|0.60634	.|.	.|.	ENSG00000082482|ENSG00000082482	ENST00000366948|ENST00000391895;ENST00000478774;ENST00000391894;ENST00000444842;ENST00000457122	.|T;T;T;T;T	.|0.29142	.|1.93;1.58;1.93;1.93;1.93	6.16|6.16	6.16|6.16	0.99307|0.99307	.|Ion transport 2 (1);	.|0.043217	.|0.85682	.|D	.|0.000000	T|T	0.38957|0.38957	0.1060|0.1060	L|L	0.35414|0.35414	1.06|1.06	0.80722|0.80722	D|D	1|1	.|B;B;P	.|0.45212	.|0.087;0.065;0.853	.|B;B;P	.|0.51866	.|0.065;0.032;0.682	T|T	0.00749|0.00749	-1.1582|-1.1582	6|10	0.41790|0.22109	T|T	0.15|0.4	.|.	20.8598|20.8598	0.99761|0.99761	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|151;166;162	.|O95069-2;O95069;O95069-3	.|.;KCNK2_HUMAN;.	S|L	123|162;110;151;166;110	.|ENSP00000375765:R162L;ENSP00000420569:R110L;ENSP00000375764:R151L;ENSP00000394033:R166L;ENSP00000413460:R110L	ENSP00000355915:A123S|ENSP00000375764:R151L	A|R	+|+	1|2	0|0	KCNK2|KCNK2	213409186|213409186	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.985000|0.985000	0.73830|0.73830	6.943000|6.943000	0.75934|0.75934	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GCA|CGC		0.368	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217		33	92	1	0	8.73648e-17	0.004289	1.18671e-16	33	92				
RAB3GAP2	25782	broad.mit.edu	37	1	220345342	220345342	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr1:220345342C>A	ENST00000358951.2	-	23	2582	c.2466G>T	c.(2464-2466)caG>caT	p.Q822H		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	822					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)	p.Q822H(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TGCGCATCTGCTGCCACCATG	0.468																																							uc010puk.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2464-2466)CAG>CAT		rab3 GTPase-activating protein, non-catalytic							68.0	64.0	65.0					1																	220345342		2203	4300	6503	SO:0001583	missense	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220345342C>A	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.2466G>T	1.37:g.220345342C>A	ENSP00000351832:p.Gln822His					RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.Q402H	p.Q822H	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	23	2630	-			822					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	c.2466G>T	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.823562	0.71143	.	.	ENSG00000118873	ENST00000358951	T	0.40476	1.03	5.71	3.52	0.40303	.	0.000000	0.85682	D	0.000000	T	0.55194	0.1905	L	0.55481	1.735	0.54753	D	0.999981	D	0.89917	1.0	D	0.75484	0.986	T	0.55648	-0.8108	10	0.54805	T	0.06	.	9.7527	0.40485	0.0:0.7148:0.0:0.2852	.	822	Q9H2M9	RBGPR_HUMAN	H	822	ENSP00000351832:Q822H	ENSP00000351832:Q822H	Q	-	3	2	RAB3GAP2	218411965	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.773000	0.47686	1.426000	0.47256	0.650000	0.86243	CAG		0.468	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		20	41	1	0	1.33834e-09	0.007413	1.66526e-09	20	41				
GPR137B	7107	broad.mit.edu	37	1	236343183	236343183	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr1:236343183C>T	ENST00000366592.3	+	4	783	c.692C>T	c.(691-693)tCc>tTc	p.S231F	GPR137B_ENST00000366591.4_Missense_Mutation_p.S140F	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	231						integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)		p.S231F(1)|p.S140F(1)		endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			TTCCAGGGCTCCTCCGTGTGT	0.547																																							uc001hxq.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(691-693)TCC>TTC		G protein-coupled receptor 137B							207.0	176.0	186.0					1																	236343183		2203	4300	6503	SO:0001583	missense	7107					integral to plasma membrane|membrane fraction		g.chr1:236343183C>T	AF027826	CCDS1609.1	1q42-q43	2012-08-10	2006-01-26	2006-01-26	ENSG00000077585	ENSG00000077585			11862	protein-coding gene	gene with protein product		604658	"""transmembrane 7 superfamily member 1 (upregulated in kidney)"""	TM7SF1		9521871	Standard	NM_003272		Approved		uc001hxq.3	O60478	OTTHUMG00000037994	ENST00000366592.3:c.692C>T	1.37:g.236343183C>T	ENSP00000355551:p.Ser231Phe					GPR137B_uc001hxr.1_Missense_Mutation_p.S13F|GPR137B_uc009xge.2_RNA	p.S231F	NM_003272	NP_003263	O60478	G137B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		4	783	+	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	231			Cytoplasmic (Potential).		Q53EK7|Q5TAE6|Q6FHI3	Missense_Mutation	SNP	ENST00000366592.3	37	c.692C>T	CCDS1609.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.4|22.4	4.283124|4.283124	0.80803|0.80803	.|.	.|.	ENSG00000077585|ENSG00000077585	ENST00000454895|ENST00000366592;ENST00000366591;ENST00000391852;ENST00000419162	.|T;T;T	.|0.45276	.|0.9;2.31;0.91	5.52|5.52	4.61|4.61	0.57282|0.57282	.|.	.|0.054866	.|0.85682	.|D	.|0.000000	T|T	0.49898|0.49898	0.1584|0.1584	L|L	0.45581|0.45581	1.43|1.43	0.34803|0.34803	D|D	0.736954|0.736954	.|P;D	.|0.55172	.|0.547;0.97	.|B;P	.|0.53722	.|0.444;0.733	T|T	0.65800|0.65800	-0.6080|-0.6080	5|10	.|0.72032	.|D	.|0.01	-40.0971|-40.0971	14.7712|14.7712	0.69679|0.69679	0.0:0.9302:0.0:0.0698|0.0:0.9302:0.0:0.0698	.|.	.|94;231	.|Q5TAF1;O60478	.|.;G137B_HUMAN	S|F	95|231;140;230;13	.|ENSP00000355551:S231F;ENSP00000355550:S140F;ENSP00000401841:S13F	.|ENSP00000355550:S140F	P|S	+|+	1|2	0|0	GPR137B|GPR137B	234409806|234409806	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.347000|7.347000	0.79356|0.79356	1.471000|1.471000	0.48121|0.48121	0.563000|0.563000	0.77884|0.77884	CCT|TCC		0.547	GPR137B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092761.1	NM_003272		59	151	0	0	0	0.00361	0	59	151				
COL13A1	1305	broad.mit.edu	37	10	71716763	71716763	+	Missense_Mutation	SNP	G	G	A	rs1139030		TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr10:71716763G>A	ENST00000398978.3	+	39	2608	c.2116G>A	c.(2116-2118)Gaa>Aaa	p.E706K	COL13A1_ENST00000398969.3_Missense_Mutation_p.E634K|COL13A1_ENST00000398964.3_Missense_Mutation_p.E677K|COL13A1_ENST00000357811.3_Missense_Mutation_p.E672K|COL13A1_ENST00000398972.3_Missense_Mutation_p.E692K|COL13A1_ENST00000522165.1_Missense_Mutation_p.E675K|COL13A1_ENST00000356340.3_Missense_Mutation_p.E706K|COL13A1_ENST00000398971.3_Missense_Mutation_p.E691K|COL13A1_ENST00000398966.3_Missense_Mutation_p.E684K|COL13A1_ENST00000398968.3_Missense_Mutation_p.E687K|COL13A1_ENST00000520133.1_Missense_Mutation_p.E599K|COL13A1_ENST00000517713.1_Missense_Mutation_p.E657K|COL13A1_ENST00000398973.3_Missense_Mutation_p.E680K|COL13A1_ENST00000520267.1_Missense_Mutation_p.E634K|COL13A1_ENST00000354547.3_Missense_Mutation_p.E684K|COL13A1_ENST00000398974.3_Missense_Mutation_p.E694K	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1									p.E706K(1)|p.E689K(1)		endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						CTTGCAGGGCGAAGATGGCTT	0.557																																							uc001jpr.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2116-2118)GAA>AAA		alpha 1 type XIII collagen isoform 1	Atorvastatin(DB01076)|Simvastatin(DB00641)						89.0	93.0	91.0					10																	71716763		2017	4162	6179	SO:0001583	missense	1305				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	g.chr10:71716763G>A	AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.2116G>A	10.37:g.71716763G>A	ENSP00000381949:p.Glu706Lys					COL13A1_uc001jqj.1_Missense_Mutation_p.E679K|COL13A1_uc001jps.1_Missense_Mutation_p.E677K|COL13A1_uc001jpt.1_Missense_Mutation_p.E665K|COL13A1_uc001jpu.1_Missense_Mutation_p.E675K|COL13A1_uc001jpv.1_Missense_Mutation_p.E680K|COL13A1_uc001jpx.1_Missense_Mutation_p.E657K|COL13A1_uc001jpw.1_Missense_Mutation_p.E653K|COL13A1_uc001jpy.1_Missense_Mutation_p.E644K|COL13A1_uc001jpz.1_Missense_Mutation_p.E649K|COL13A1_uc001jqa.1_Missense_Mutation_p.E646K|COL13A1_uc001jqc.1_Missense_Mutation_p.E691K|COL13A1_uc001jqb.1_Missense_Mutation_p.E599K|COL13A1_uc001jql.2_Missense_Mutation_p.E706K|COL13A1_uc001jqd.1_Missense_Mutation_p.E694K|COL13A1_uc001jqe.1_Missense_Mutation_p.E689K|COL13A1_uc001jqf.1_Missense_Mutation_p.E687K|COL13A1_uc001jqg.1_Missense_Mutation_p.E684K|COL13A1_uc001jqh.1_Missense_Mutation_p.E694K|COL13A1_uc001jqi.1_Missense_Mutation_p.E692K|COL13A1_uc010qjf.1_Missense_Mutation_p.E481K	p.E706K	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN			38	2652	+			706	E -> Q (in Ref. 4; AAA52047/AAA52048 and 5; AAA51987/AAA51988/AAA51989/AAA51990/ AAA51991).		Extracellular (Potential).|Nonhelical region 4 (NC4).			Missense_Mutation	SNP	ENST00000398978.3	37	c.2116G>A	CCDS44419.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.69|13.69	2.312689|2.312689	0.40895|0.40895	.|.	.|.	ENSG00000197467|ENSG00000197467	ENST00000398974;ENST00000398971;ENST00000398968;ENST00000398966;ENST00000398964;ENST00000398969;ENST00000356340;ENST00000398972;ENST00000398973;ENST00000398978;ENST00000354547;ENST00000357811;ENST00000520267;ENST00000517713;ENST00000522165;ENST00000520133|ENST00000456019	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.94184|.	-2.76;-3.19;-2.78;-2.77;-2.89;-3.19;-2.8;-3.37;-3.37;-2.81;-2.75;-3.37;-3.19;-3.37;-3.37;-3.37|.	5.49|5.49	4.56|4.56	0.56223|0.56223	.|.	0.063517|.	0.64402|.	D|.	0.000010|.	T|T	0.49983|0.49983	0.1589|0.1589	N|N	0.17474|0.17474	0.49|0.49	0.42186|0.42186	D|D	0.991708|0.991708	P;D;P;P;D;P;P;D;D;P;P;P;P;P;P;P;P;D|.	0.76494|.	0.742;0.999;0.697;0.697;0.973;0.742;0.742;0.994;0.999;0.742;0.934;0.697;0.697;0.547;0.697;0.697;0.742;0.998|.	B;D;B;B;P;B;B;P;D;B;P;B;B;B;B;B;B;D|.	0.76575|.	0.166;0.988;0.162;0.162;0.588;0.251;0.251;0.488;0.988;0.251;0.503;0.162;0.162;0.15;0.162;0.162;0.251;0.98|.	T|T	0.46952|0.46952	-0.9154|-0.9154	10|5	0.66056|.	D|.	0.02|.	-17.4091|-17.4091	16.4192|16.4192	0.83753|0.83753	0.0:0.1318:0.8682:0.0|0.0:0.1318:0.8682:0.0	.|.	634;706;691;692;680;684;687;692;694;691;599;672;657;680;675;684;677;706|.	B9EGD2;Q5TAT6;Q5TAT6-5;Q5TAT6-6;E9PEG9;E7ES55;E7ES51;E7ES47;E7ES46;E7ES49;E7EWL8;Q5TAT6-3;Q5TAT6-4;Q5TAT6-7;Q5TAT6-8;Q5TAT6-2;E7ES56;G5E987|.	.;CODA1_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.|.	K|Q	694;691;687;684;677;634;706;692;680;706;684;672;634;657;675;599|162	ENSP00000381946:E694K;ENSP00000381943:E691K;ENSP00000381940:E687K;ENSP00000381938:E684K;ENSP00000381936:E677K;ENSP00000381941:E634K;ENSP00000348695:E706K;ENSP00000381944:E692K;ENSP00000381945:E680K;ENSP00000381949:E706K;ENSP00000346553:E684K;ENSP00000350463:E672K;ENSP00000428057:E634K;ENSP00000430061:E657K;ENSP00000428342:E675K;ENSP00000430173:E599K|.	ENSP00000346553:E684K|.	E|R	+|+	1|2	0|0	COL13A1|COL13A1	71386769|71386769	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.789000|0.789000	0.44602|0.44602	4.878000|4.878000	0.63093|0.63093	1.414000|1.414000	0.47017|0.47017	0.563000|0.563000	0.77884|0.77884	GAA|CGA		0.557	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048468.1	NM_005203		14	36	0	0	0	0.00499	0	14	36				
TH	7054	broad.mit.edu	37	11	2189322	2189322	+	Splice_Site	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr11:2189322G>T	ENST00000381178.1	-	5	686	c.668C>A	c.(667-669)cCg>cAg	p.P223Q	TH_ENST00000333684.5_Splice_Site_p.P196Q|TH_ENST00000352909.3_Splice_Site_p.P192Q|TH_ENST00000381175.1_Splice_Site_p.P219Q	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	223					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)	p.P223Q(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	ACCACTCACCGGGTGGTCCAA	0.597																																							uc001lvq.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(667-669)CCG>CAG		tyrosine hydroxylase isoform a	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)						102.0	94.0	97.0					11																	2189322		2202	4299	6501	SO:0001630	splice_region_variant	7054				dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity	g.chr11:2189322G>T	X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"""tyrosine 3-monooxygenase"""	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.669+1C>A	11.37:g.2189322G>T						TH_uc001lvp.2_Missense_Mutation_p.P219Q|TH_uc001lvr.2_Missense_Mutation_p.P192Q|TH_uc010qxj.1_Missense_Mutation_p.P196Q|TH_uc001lvs.2_Missense_Mutation_p.P192Q|TH_uc001lvt.2_Missense_Mutation_p.P196Q|TH_uc009ydh.1_RNA	p.P223Q	NM_199292	NP_954986	P07101	TY3H_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	5	687	-		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	223					B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Missense_Mutation	SNP	ENST00000381178.1	37	c.668C>A	CCDS7731.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.780674	0.70222	.	.	ENSG00000180176	ENST00000381178;ENST00000381175;ENST00000352909;ENST00000333684	D;D;D;D	0.99848	-7.14;-7.14;-7.14;-7.14	3.44	3.44	0.39384	Aromatic amino acid hydroxylase, C-terminal (4);	0.000000	0.85682	U	0.000000	D	0.99876	0.9941	H	0.96576	3.845	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.79784	0.993;0.992;0.992;0.988;0.993;0.988	D	0.96273	0.9200	10	0.87932	D	0	-27.4417	14.2495	0.66011	0.0:0.0:1.0:0.0	.	196;196;192;192;223;219	B7ZL73;Q0PWM2;Q0PWM3;P07101-3;P07101;P07101-2	.;.;.;.;TY3H_HUMAN;.	Q	223;219;192;196	ENSP00000370571:P223Q;ENSP00000370567:P219Q;ENSP00000325951:P192Q;ENSP00000328814:P196Q	ENSP00000328814:P196Q	P	-	2	0	TH	2145898	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	7.471000	0.80985	1.633000	0.50488	0.205000	0.17691	CCG		0.597	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360	Missense_Mutation	10	52	1	0	0.000442599	0.006214	0.000494135	10	52				
OR2AG2	338755	broad.mit.edu	37	11	6789746	6789746	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr11:6789746G>C	ENST00000338569.2	-	1	540	c.443C>G	c.(442-444)tCc>tGc	p.S148C		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S148C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAGGATCCAGGATGTGGCCAC	0.507																																							uc001meq.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(442-444)TCC>TGC		olfactory receptor, family 2, subfamily AG,							107.0	87.0	94.0					11																	6789746		2201	4296	6497	SO:0001583	missense	338755				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6789746G>C	AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"""GPCR / Class A : Olfactory receptors"""	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.443C>G	11.37:g.6789746G>C	ENSP00000342697:p.Ser148Cys						p.S148C	NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	443	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	148			Helical; Name=4; (Potential).			Missense_Mutation	SNP	ENST00000338569.2	37	c.443C>G	CCDS31413.1	.	.	.	.	.	.	.	.	.	.	G	9.479	1.097529	0.20552	.	.	ENSG00000188124	ENST00000338569	T	0.38401	1.14	4.47	3.56	0.40772	GPCR, rhodopsin-like superfamily (1);	0.140085	0.33346	N	0.005012	T	0.43166	0.1235	L	0.45470	1.425	0.20638	N	0.99988	P	0.45078	0.85	P	0.57846	0.828	T	0.12656	-1.0539	10	0.35671	T	0.21	.	7.1841	0.25789	0.1949:0.0:0.805:0.0	.	148	A6NM03	O2AG2_HUMAN	C	148	ENSP00000342697:S148C	ENSP00000342697:S148C	S	-	2	0	OR2AG2	6746322	0.063000	0.20901	1.000000	0.80357	0.936000	0.57629	1.249000	0.32839	1.492000	0.48499	-0.137000	0.14449	TCC		0.507	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386775.1	NM_001004490		12	56	0	0	0	0.001368	0	12	56				
EXT2	2132	broad.mit.edu	37	11	44135768	44135768	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr11:44135768G>T	ENST00000343631.3	+	4	789	c.660G>T	c.(658-660)tgG>tgT	p.W220C	EXT2_ENST00000533608.1_Missense_Mutation_p.W220C|EXT2_ENST00000358681.4_Missense_Mutation_p.W220C|EXT2_ENST00000395673.3_Missense_Mutation_p.W253C|EXT2_ENST00000529186.1_3'UTR			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	220					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)	p.W220C(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TTTCTACGTGGACTTACCGGC	0.473			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses																														uc001mxz.2		NA	yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	Mis|N|F|S	multiple exostoses type 2 gene			M		exostoses|osteosarcoma			2	Substitution - Missense(2)		lung(2)	lung(2)|breast(2)|skin(1)	5						c.(658-660)TGG>TGT		exostosin 2 isoform 2							145.0	129.0	134.0					11																	44135768		2203	4300	6503	SO:0001583	missense	2132	Hereditary_Multiple_Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44135768G>T		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3513	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608210	"""exostoses (multiple) 2"", ""exostosin 2"""			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.660G>T	11.37:g.44135768G>T	ENSP00000342656:p.Trp220Cys					EXT2_uc010rfo.1_Missense_Mutation_p.W248C|EXT2_uc001mxy.2_Missense_Mutation_p.W233C|EXT2_uc009ykt.2_Missense_Mutation_p.W220C|EXT2_uc001mya.2_Missense_Mutation_p.W253C	p.W220C	NM_207122	NP_997005	Q93063	EXT2_HUMAN			4	994	+			220			Lumenal (Potential).		B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	37	c.660G>T	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629452	0.87660	.	.	ENSG00000151348	ENST00000533608;ENST00000358681;ENST00000395673;ENST00000343631	D;D;D;D	0.97642	-4.47;-4.47;-4.47;-4.47	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.98327	0.9445	M	0.77820	2.39	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;1.0	D;D;D;D;D	0.72982	0.979;0.979;0.973;0.979;0.979	D	0.97936	1.0323	10	0.36615	T	0.2	-0.757	19.7534	0.96277	0.0:0.0:1.0:0.0	.	220;220;220;220;233	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	C	220;220;253;220	ENSP00000431173:W220C;ENSP00000351509:W220C;ENSP00000379032:W253C;ENSP00000342656:W220C	ENSP00000342656:W220C	W	+	3	0	EXT2	44092344	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.686000	0.98664	2.673000	0.90976	0.650000	0.86243	TGG		0.473	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		43	116	1	0	3.43241e-23	0.002222	4.74139e-23	43	116				
PGR	5241	broad.mit.edu	37	11	100962496	100962496	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr11:100962496A>C	ENST00000325455.5	-	3	3354	c.1901T>G	c.(1900-1902)cTt>cGt	p.L634R	PGR_ENST00000534013.1_Missense_Mutation_p.L40R|PGR_ENST00000263463.5_Missense_Mutation_p.L634R	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	634					cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.L634R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	ATTACCTCCAAGGACCATGCC	0.363																																					Pancreas(124;2271 2354 21954 22882)	Pancreas(124;2271 2354 21954 22882)	uc001pgh.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4						c.(1900-1902)CTT>CGT		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						94.0	86.0	89.0					11																	100962496		2203	4300	6503	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100962496A>C	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.1901T>G	11.37:g.100962496A>C	ENSP00000325120:p.Leu634Arg					PGR_uc001pgi.2_Missense_Mutation_p.L634R|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_Intron	p.L634R	NM_000926	NP_000917	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	3	2644	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	634			Nuclear receptor.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.1901T>G	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.306821	0.81247	.	.	ENSG00000082175	ENST00000325455;ENST00000534013;ENST00000263463;ENST00000537623	T;T;D	0.97620	1.27;1.27;-4.46	5.63	5.63	0.86233	Zinc finger, NHR/GATA-type (1);Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (2);	0.000000	0.85682	D	0.000000	D	0.97820	0.9284	L	0.52905	1.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98965	1.0799	10	0.87932	D	0	.	15.8429	0.78864	1.0:0.0:0.0:0.0	.	634;634	Q8TDS3;P06401	.;PRGR_HUMAN	R	634;40;634;634	ENSP00000325120:L634R;ENSP00000436561:L40R;ENSP00000263463:L634R	ENSP00000263463:L634R	L	-	2	0	PGR	100467706	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	9.091000	0.94151	2.145000	0.66743	0.533000	0.62120	CTT		0.363	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			11	25	0	0	0	0.001855	0	11	25				
AMICA1	120425	broad.mit.edu	37	11	118081271	118081271	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr11:118081271G>A	ENST00000356289.5	-	4	528	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C	AMICA1_ENST00000292067.7_Missense_Mutation_p.R109C|AMICA1_ENST00000526620.1_Missense_Mutation_p.R80C|AMICA1_ENST00000533261.1_Missense_Mutation_p.R119C	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	119	Ig-like V-type 1.				blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)	p.R109C(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCTTTGAGGCGGATTTCACAG	0.522																																							uc001psk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(355-357)CGC>TGC		adhesion molecule, interacts with CXADR antigen							111.0	94.0	100.0					11																	118081271		2200	4296	6496	SO:0001583	missense	120425				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane		g.chr11:118081271G>A	AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"""Immunoglobulin superfamily / V-set domain containing"""	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.355C>T	11.37:g.118081271G>A	ENSP00000348635:p.Arg119Cys					AMICA1_uc001psh.2_Missense_Mutation_p.R80C|AMICA1_uc009yzw.1_RNA|AMICA1_uc001psi.2_Missense_Mutation_p.R109C|AMICA1_uc001psj.2_Missense_Mutation_p.R119C|AMICA1_uc010rxw.1_Missense_Mutation_p.R80C|AMICA1_uc010rxx.1_Missense_Mutation_p.R119C|AMICA1_uc001psl.1_Missense_Mutation_p.R75C	p.R119C	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	4	529	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	119			Ig-like V-type 1.|Extracellular (Potential).		B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Missense_Mutation	SNP	ENST00000356289.5	37	c.355C>T	CCDS41723.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848710	0.51164	.	.	ENSG00000160593	ENST00000356289;ENST00000292067;ENST00000533261;ENST00000526620;ENST00000537867;ENST00000524477;ENST00000525565	D;D;D;D;D;D	0.94687	-3.49;-3.49;-3.49;-3.49;-3.49;-3.49	5.14	5.14	0.70334	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.124581	0.37577	N	0.002038	D	0.96833	0.8966	M	0.77103	2.36	0.53688	D	0.99997	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.80764	0.977;0.994;0.977;0.977;0.961	D	0.96840	0.9617	10	0.66056	D	0.02	-13.3206	13.9841	0.64324	0.0:0.0:1.0:0.0	.	119;80;119;119;109	B4DVI6;E9PKK2;Q86YT9;E9PR26;Q86YT9-2	.;.;JAML1_HUMAN;.;.	C	119;109;119;80;80;80;119	ENSP00000348635:R119C;ENSP00000292067:R109C;ENSP00000436117:R119C;ENSP00000431218:R80C;ENSP00000432769:R80C;ENSP00000431791:R119C	ENSP00000292067:R109C	R	-	1	0	AMICA1	117586481	0.991000	0.36638	0.963000	0.40424	0.048000	0.14542	2.381000	0.44336	2.669000	0.90835	0.655000	0.94253	CGC		0.522	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392105.2	NM_153206		28	88	0	0	0	0.008361	0	28	88				
ROBO4	54538	broad.mit.edu	37	11	124756661	124756661	+	Silent	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr11:124756661G>A	ENST00000306534.3	-	16	2978	c.2493C>T	c.(2491-2493)atC>atT	p.I831I	ROBO4_ENST00000533054.1_Silent_p.I686I|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	831					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.I831I(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TTGGGACGCTGATGTACCCAT	0.622																																							uc001qbg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(2491-2493)ATC>ATT		roundabout homolog 4, magic roundabout							70.0	72.0	71.0					11																	124756661		2201	4299	6500	SO:0001819	synonymous_variant	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124756661G>A	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.2493C>T	11.37:g.124756661G>A						ROBO4_uc010sas.1_Silent_p.I686I|ROBO4_uc001qbh.2_3'UTR|ROBO4_uc001qbi.2_Silent_p.I389I	p.I831I	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	16	2633	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	831					A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Silent	SNP	ENST00000306534.3	37	c.2493C>T	CCDS8455.1																																																																																				0.622	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		26	43	0	0	0	0.005443	0	26	43				
KCNA6	3742	broad.mit.edu	37	12	4920464	4920464	+	Silent	SNP	A	A	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr12:4920464A>T	ENST00000280684.3	+	1	2123	c.1257A>T	c.(1255-1257)acA>acT	p.T419T	KCNA6_ENST00000433855.1_Silent_p.T419T|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	419					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.T419T(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CAGTGGTTACAATGACCACGG	0.587										HNSCC(72;0.22)																													uc001qng.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(1255-1257)ACA>ACT		potassium voltage-gated channel, shaker-related							129.0	111.0	117.0					12																	4920464		2203	4300	6503	SO:0001819	synonymous_variant	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4920464A>T	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.1257A>T	12.37:g.4920464A>T		HNSCC(72;0.22)					p.T419T	NM_002235	NP_002226	P17658	KCNA6_HUMAN			1	2123	+			419						Silent	SNP	ENST00000280684.3	37	c.1257A>T	CCDS8534.1																																																																																				0.587	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		21	79	0	0	0	0.001882	0	21	79				
DIP2B	57609	broad.mit.edu	37	12	51065071	51065071	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr12:51065071G>A	ENST00000301180.5	+	5	564	c.530G>A	c.(529-531)cGt>cAt	p.R177H		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	177	Ser-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.R177H(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TGGATCAACCGTTCAATTCAG	0.527																																							uc001rwv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(1)|pancreas(1)	6						c.(529-531)CGT>CAT		DIP2 disco-interacting protein 2 homolog B							140.0	119.0	126.0					12																	51065071		2203	4300	6503	SO:0001583	missense	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51065071G>A	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.530G>A	12.37:g.51065071G>A	ENSP00000301180:p.Arg177His					DIP2B_uc001rwu.2_Missense_Mutation_p.R177H|DIP2B_uc009zls.1_Missense_Mutation_p.R59H	p.R177H	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN			5	686	+			177			Ser-rich.		Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	c.530G>A	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380451	0.82792	.	.	ENSG00000066084	ENST00000455310;ENST00000301180	T	0.24908	1.83	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.29976	0.0750	M	0.67397	2.05	0.80722	D	1	B;B	0.32467	0.218;0.372	B;B	0.21708	0.033;0.036	T	0.11518	-1.0584	10	0.54805	T	0.06	-12.0321	19.1286	0.93396	0.0:0.0:1.0:0.0	.	177;187	Q9P265;E9PHD6	DIP2B_HUMAN;.	H	187;177	ENSP00000301180:R177H	ENSP00000301180:R177H	R	+	2	0	DIP2B	49351338	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.613000	0.74192	2.758000	0.94735	0.586000	0.80456	CGT		0.527	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		17	112	0	0	0	0.004007	0	17	112				
OR10P1	121130	broad.mit.edu	37	12	56031203	56031203	+	Silent	SNP	G	G	T	rs147317388	byFrequency	TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr12:56031203G>T	ENST00000309675.2	+	1	560	c.528G>T	c.(526-528)ccG>ccT	p.P176P	RP11-644F5.16_ENST00000556606.1_RNA	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P176P(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						CGATCATCCCGCACTTTCTCT	0.562																																							uc010spq.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(526-528)CCG>CCT		olfactory receptor, family 10, subfamily P,							111.0	78.0	89.0					12																	56031203		2203	4300	6503	SO:0001819	synonymous_variant	121130				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:56031203G>T	BK004259	CCDS31828.1	12q13.13	2012-08-09		2004-03-10		ENSG00000175398		"""GPCR / Class A : Olfactory receptors"""	15378	protein-coding gene	gene with protein product				OR10P1P, OR10P2P, OR10P3P			Standard	NM_206899		Approved	OST701	uc010spq.2	Q8NGE3	OTTHUMG00000169961	ENST00000309675.2:c.528G>T	12.37:g.56031203G>T							p.P176P	NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN			1	528	+			176			Extracellular (Potential).		B9EGY4	Silent	SNP	ENST00000309675.2	37	c.528G>T	CCDS31828.1																																																																																				0.562	OR10P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406680.1			20	100	1	0	1.01871e-10	0.008871	1.29727e-10	20	100				
TPCN1	53373	broad.mit.edu	37	12	113710467	113710467	+	Silent	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr12:113710467C>T	ENST00000335509.6	+	8	1067	c.753C>T	c.(751-753)ttC>ttT	p.F251F	TPCN1_ENST00000550785.1_Silent_p.F323F|TPCN1_ENST00000392569.4_Silent_p.F183F|TPCN1_ENST00000541517.1_Silent_p.F323F	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	251					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)	p.F251F(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TTCTAGGTTTCTACTTGTTCT	0.468																																							uc001tuw.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(751-753)TTC>TTT		two pore segment channel 1 isoform 2							300.0	276.0	284.0					12																	113710467		2203	4300	6503	SO:0001819	synonymous_variant	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113710467C>T	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.753C>T	12.37:g.113710467C>T						TPCN1_uc001tux.2_Silent_p.F323F|TPCN1_uc010syt.1_Silent_p.F183F	p.F251F	NM_017901	NP_060371	Q9ULQ1	TPC1_HUMAN			8	1050	+			251			Helical; Name=S5 of repeat I; (Potential).		A7E258|Q86XS9|Q8NC20	Silent	SNP	ENST00000335509.6	37	c.753C>T	CCDS31908.1																																																																																				0.468	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		131	251	0	0	0	0.00361	0	131	251				
TPCN1	53373	broad.mit.edu	37	12	113717996	113717996	+	Silent	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr12:113717996C>T	ENST00000335509.6	+	15	1652	c.1338C>T	c.(1336-1338)ttC>ttT	p.F446F	TPCN1_ENST00000550785.1_Silent_p.F518F|TPCN1_ENST00000392569.4_Silent_p.F378F|TPCN1_ENST00000541517.1_Silent_p.F518F	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	446					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)	p.F446F(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TCCAGTATTTCATGTGTAAGT	0.423																																							uc001tuw.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(1336-1338)TTC>TTT		two pore segment channel 1 isoform 2							105.0	100.0	101.0					12																	113717996		2203	4300	6503	SO:0001819	synonymous_variant	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113717996C>T	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.1338C>T	12.37:g.113717996C>T						TPCN1_uc001tux.2_Silent_p.F518F|TPCN1_uc010syt.1_Silent_p.F378F	p.F446F	NM_017901	NP_060371	Q9ULQ1	TPC1_HUMAN			15	1635	+			446			Helical; Name=S1 of repeat II; (Potential).		A7E258|Q86XS9|Q8NC20	Silent	SNP	ENST00000335509.6	37	c.1338C>T	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	C	9.945	1.218550	0.22373	.	.	ENSG00000186815	ENST00000546781	.	.	.	5.02	4.11	0.48088	.	.	.	.	.	T	0.55097	0.1899	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51434	-0.8706	4	.	.	.	-29.9357	6.4587	0.21944	0.0:0.7275:0.0:0.2725	.	.	.	.	Y	133	.	.	H	+	1	0	TPCN1	112202379	0.947000	0.32204	1.000000	0.80357	0.989000	0.77384	0.047000	0.14056	2.607000	0.88179	0.655000	0.94253	CAT		0.423	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		13	49	0	0	0	0.001855	0	13	49				
CTAGE11P	647288	broad.mit.edu	37	13	75814192	75814192	+	IGR	SNP	T	T	C	rs568350616	byFrequency	TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr13:75814192T>C								AL162571.1 (31019 upstream) : LINC01078 (10423 downstream)																							TAAGGCTAAATTTTTCAAGTA	0.393													T|||	2	0.000399361	0.0	0.0	5008	,	,		19600	0.0		0.002	False		,,,				2504	0.0						uc010ths.1		NA																	0					0						c.(283-285)AAA>AAG		Homo sapiens mRNA; cDNA DKFZp434F0327 (from clone DKFZp434F0327).																																				SO:0001628	intergenic_variant	647288							g.chr13:75814192T>C																													13.37:g.75814192T>C							p.K95K	NR_027466						1	326	-									Silent	SNP		37	c.285A>G																																																																																				0	0.393									12	200	0	0	0	0.000978	0	12	200				
SLITRK5	26050	broad.mit.edu	37	13	88328860	88328860	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr13:88328860C>T	ENST00000325089.6	+	2	1436	c.1217C>T	c.(1216-1218)cCc>cTc	p.P406L	SLITRK5_ENST00000400028.3_Missense_Mutation_p.P165L	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	406	LRRNT.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.P406L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GAACTGCAGCCCAAGCCCTAC	0.567																																							uc001vln.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(1216-1218)CCC>CTC		SLIT and NTRK-like family, member 5 precursor							92.0	77.0	82.0					13																	88328860		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88328860C>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1217C>T	13.37:g.88328860C>T	ENSP00000366283:p.Pro406Leu					SLITRK5_uc010tic.1_Missense_Mutation_p.P165L	p.P406L	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	1436	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		406			Extracellular (Potential).|LRRNT.		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.1217C>T	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656741	0.67586	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.51325	0.71;0.71	5.54	5.54	0.83059	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71685	0.3369	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.985;0.999	T	0.73908	-0.3834	9	.	.	.	-13.3651	16.9785	0.86321	0.0:1.0:0.0:0.0	.	165;406	B4DSH5;O94991	.;SLIK5_HUMAN	L	406;165	ENSP00000366283:P406L;ENSP00000442244:P165L	.	P	+	2	0	SLITRK5	87126861	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.818000	0.86416	2.604000	0.88044	0.561000	0.74099	CCC		0.567	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			14	32	0	0	0	0.001855	0	14	32				
ABHD12B	145447	broad.mit.edu	37	14	51352570	51352570	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr14:51352570G>C	ENST00000337334.2	+	7	634	c.619G>C	c.(619-621)Ggc>Cgc	p.G207R	PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000353130.1_Missense_Mutation_p.G130R|ABHD12B_ENST00000554241.1_3'UTR|ABHD12B_ENST00000395752.1_Missense_Mutation_p.G100R	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	207							hydrolase activity (GO:0016787)	p.G207R(1)|p.G130R(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					GGCAAGAAGTGGCATCACTCC	0.522																																							uc001wys.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(619-621)GGC>CGC		abhydrolase domain containing 12B isoform b							196.0	178.0	184.0					14																	51352570		2203	4300	6503	SO:0001583	missense	145447						hydrolase activity	g.chr14:51352570G>C	BG698443	CCDS9702.1, CCDS55916.1	14q21.3	2009-10-09	2007-04-03	2007-04-03	ENSG00000131969	ENSG00000131969		"""Abhydrolase domain containing"""	19837	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 29"""	C14orf29			Standard	NM_181814		Approved	BEM46L3	uc001wys.3	Q7Z5M8	OTTHUMG00000140286	ENST00000337334.2:c.619G>C	14.37:g.51352570G>C	ENSP00000336693:p.Gly207Arg					ABHD12B_uc001wyq.2_Missense_Mutation_p.G100R|ABHD12B_uc001wyr.2_Missense_Mutation_p.G130R|ABHD12B_uc010any.2_Intron	p.G207R	NM_181533	NP_853511	Q7Z5M8	AB12B_HUMAN			7	634	+	all_epithelial(31;0.00481)|Breast(41;0.148)		207					Q3KNR9|Q3KNS0|Q7Z5M6|Q7Z5M7|Q8N4D2	Missense_Mutation	SNP	ENST00000337334.2	37	c.619G>C	CCDS55916.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689487	0.48097	.	.	ENSG00000131969	ENST00000353130;ENST00000337334;ENST00000395752	T;T;T	0.64618	-0.11;0.85;-0.11	5.76	5.76	0.90799	.	0.104019	0.64402	D	0.000002	T	0.60444	0.2269	L	0.58969	1.84	0.58432	D	0.999997	B;B	0.30104	0.122;0.268	B;B	0.35312	0.2;0.111	T	0.60342	-0.7282	10	0.51188	T	0.08	-17.8351	11.1522	0.48466	0.0837:0.0:0.9163:0.0	.	207;130	Q7Z5M8;Q7Z5M8-2	AB12B_HUMAN;.	R	130;207;100	ENSP00000343951:G130R;ENSP00000336693:G207R;ENSP00000379101:G100R	ENSP00000336693:G207R	G	+	1	0	ABHD12B	50422320	1.000000	0.71417	0.999000	0.59377	0.601000	0.36947	3.010000	0.49559	2.890000	0.99128	0.655000	0.94253	GGC		0.522	ABHD12B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411030.1			47	124	0	0	0	0.003214	0	47	124				
NID2	22795	broad.mit.edu	37	14	52507564	52507564	+	Missense_Mutation	SNP	C	C	A	rs200215158		TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr14:52507564C>A	ENST00000216286.5	-	8	1830	c.1831G>T	c.(1831-1833)Gcc>Tcc	p.A611S	NID2_ENST00000541773.1_Missense_Mutation_p.A558S	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	611	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)	p.A611S(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TGGGTAAAGGCAGCACCTGGA	0.473																																							uc001wzo.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(1831-1833)GCC>TCC		nidogen 2 precursor							120.0	106.0	111.0					14																	52507564		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52507564C>A	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.1831G>T	14.37:g.52507564C>A	ENSP00000216286:p.Ala611Ser					NID2_uc010tqs.1_Missense_Mutation_p.A611S|NID2_uc010tqt.1_Missense_Mutation_p.A611S|NID2_uc001wzp.2_Missense_Mutation_p.A611S	p.A611S	NM_007361	NP_031387	Q14112	NID2_HUMAN			8	2065	-	Breast(41;0.0639)|all_epithelial(31;0.123)		611			Nidogen G2 beta-barrel.		A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.1831G>T	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	C	8.771	0.925988	0.18056	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	T;T	0.21932	1.98;1.98	5.63	-3.48	0.04739	G2 nidogen/fibulin G2F (3);Green fluorescent protein-like (1);	0.815133	0.11887	N	0.519960	T	0.08492	0.0211	N	0.11427	0.14	0.09310	N	1	B;B;P;B	0.35527	0.131;0.127;0.507;0.075	B;B;B;B	0.33960	0.145;0.076;0.173;0.103	T	0.35574	-0.9783	10	0.22706	T	0.39	.	8.4188	0.32687	0.1115:0.4572:0.0:0.4313	.	205;558;613;611	E7EPP3;Q14112-2;Q5CZI2;Q14112	.;.;.;NID2_HUMAN	S	611;205;558;613	ENSP00000216286:A611S;ENSP00000443730:A558S	ENSP00000216286:A611S	A	-	1	0	NID2	51577314	0.000000	0.05858	0.115000	0.21578	0.269000	0.26545	-0.118000	0.10692	-0.402000	0.07633	-0.312000	0.09012	GCC		0.473	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			23	89	1	0	3.62473e-10	0.001882	4.54486e-10	23	89				
KCNK10	54207	broad.mit.edu	37	14	88693778	88693778	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr14:88693778C>G	ENST00000340700.5	-	4	1058	c.607G>C	c.(607-609)Gga>Cga	p.G203R	KCNK10_ENST00000312350.5_Missense_Mutation_p.G208R|KCNK10_ENST00000319231.5_Missense_Mutation_p.G208R	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	203					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.G208R(2)|p.G203R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						AGTTGGTCTCCAATTCCAGCC	0.403																																							uc001xwo.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(2)|skin(2)|pancreas(1)	5						c.(607-609)GGA>CGA		potassium channel, subfamily K, member 10							115.0	117.0	116.0					14																	88693778		2203	4300	6503	SO:0001583	missense	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88693778C>G	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.607G>C	14.37:g.88693778C>G	ENSP00000343104:p.Gly203Arg					KCNK10_uc001xwm.2_Missense_Mutation_p.G208R|KCNK10_uc001xwn.2_Missense_Mutation_p.G208R	p.G203R	NM_021161	NP_066984	P57789	KCNKA_HUMAN			4	1064	-			203			Cytoplasmic (Potential).		B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	c.607G>C	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	C	31	5.094466	0.94149	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	T;T;T	0.34472	1.36;1.36;1.36	6.17	6.17	0.99709	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.69548	0.3123	M	0.88640	2.97	0.80722	D	1	D;D;D	0.89917	1.0;0.988;1.0	D;D;D	0.87578	0.998;0.951;0.997	T	0.72808	-0.4181	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	203;208;208	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	R	203;208;208	ENSP00000343104:G203R;ENSP00000310568:G208R;ENSP00000312811:G208R	ENSP00000310568:G208R	G	-	1	0	KCNK10	87763531	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GGA		0.403	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		49	136	0	0	0	0.00361	0	49	136				
JAG2	3714	broad.mit.edu	37	14	105609331	105609331	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr14:105609331G>A	ENST00000331782.3	-	26	3821	c.3418C>T	c.(3418-3420)Cgg>Tgg	p.R1140W	JAG2_ENST00000347004.2_Missense_Mutation_p.R1102W	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1140					auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)	p.R1140W(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CCCCCCGGCCGCTCAATGGGG	0.731																																							uc001yqg.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|breast(2)	5						c.(3418-3420)CGG>TGG		jagged 2 isoform a precursor																																				SO:0001583	missense	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105609331G>A	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.3418C>T	14.37:g.105609331G>A	ENSP00000328169:p.Arg1140Trp					JAG2_uc010axf.2_5'UTR|JAG2_uc001yqf.2_Missense_Mutation_p.R544W|JAG2_uc001yqh.2_Missense_Mutation_p.R1102W	p.R1140W	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	26	3822	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	1140			Cytoplasmic (Potential).		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	c.3418C>T	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189446	0.38707	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.87650	-2.26;-2.28	4.09	3.1	0.35709	.	0.292389	0.30492	N	0.009505	D	0.88235	0.6382	L	0.47716	1.5	0.09310	N	0.999997	D;D	0.76494	0.999;0.999	D;P	0.67231	0.95;0.857	T	0.78094	-0.2338	10	0.87932	D	0	.	6.1166	0.20130	0.0:0.1561:0.5576:0.2863	.	1102;1140	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	W	1140;1102	ENSP00000328169:R1140W;ENSP00000328566:R1102W	ENSP00000328169:R1140W	R	-	1	2	JAG2	104680376	0.843000	0.29541	0.966000	0.40874	0.096000	0.18686	3.363000	0.52321	2.111000	0.64477	0.491000	0.48974	CGG		0.731	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			15	24	0	0	0	0.004007	0	15	24				
ARHGAP11A	9824	broad.mit.edu	37	15	32915726	32915726	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr15:32915726C>G	ENST00000361627.3	+	3	956	c.234C>G	c.(232-234)gaC>gaG	p.D78E	ARHGAP11A_ENST00000543522.1_5'UTR|ARHGAP11A_ENST00000567348.1_Missense_Mutation_p.D78E|ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.D78E|ARHGAP11A_ENST00000565905.1_5'UTR	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	78	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.D78E(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		CTTTAGAAGACCATATTCATA	0.373																																					Colon(45;757 1134 30003 36652)	Colon(45;757 1134 30003 36652)	uc001zgy.1		NA																	2	Substitution - Missense(2)		lung(1)|endometrium(1)	skin(3)|breast(2)|urinary_tract(1)	6						c.(232-234)GAC>GAG		Rho GTPase activating protein 11A isoform 1							148.0	143.0	144.0					15																	32915726		2201	4300	6501	SO:0001583	missense	9824				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:32915726C>G	D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.234C>G	15.37:g.32915726C>G	ENSP00000355090:p.Asp78Glu					ARHGAP11A_uc010ubw.1_5'UTR|ARHGAP11A_uc001zgw.2_Missense_Mutation_p.D78E|ARHGAP11A_uc001zgx.2_Missense_Mutation_p.D78E|ARHGAP11A_uc010ubx.1_5'UTR	p.D78E	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	3	956	+		all_lung(180;1.3e-11)	78			Rho-GAP.		B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	ENST00000361627.3	37	c.234C>G	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	.	1.416	-0.574154	0.03882	.	.	ENSG00000198826	ENST00000361627	T	0.17213	2.29	4.76	-1.96	0.07525	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.411168	0.20407	N	0.092924	T	0.04092	0.0114	N	0.02379	-0.575	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47699	-0.9097	10	0.02654	T	1	.	6.1194	0.20144	0.3949:0.2143:0.3908:0.0	.	78	Q6P4F7	RHGBA_HUMAN	E	78	ENSP00000355090:D78E	ENSP00000355090:D78E	D	+	3	2	ARHGAP11A	30703018	0.766000	0.28496	0.835000	0.33067	0.834000	0.47266	-0.139000	0.10358	-1.045000	0.03250	-1.217000	0.01609	GAC		0.373	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783		17	93	0	0	0	0.001523	0	17	93				
RASGRP1	10125	broad.mit.edu	37	15	38791143	38791143	+	Silent	SNP	G	G	A	rs374227836		TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr15:38791143G>A	ENST00000310803.5	-	15	1902	c.1725C>T	c.(1723-1725)tgC>tgT	p.C575C	RASGRP1_ENST00000558164.1_Intron|RASGRP1_ENST00000450598.2_Silent_p.C540C|RASGRP1_ENST00000539159.1_Silent_p.C527C|RASGRP1_ENST00000561180.1_Silent_p.C626C|RASGRP1_ENST00000559830.1_Silent_p.C540C	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	575					activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		AGTTCATCCCGCAGTCTGTGG	0.468																																							uc001zke.3		NA																	0				large_intestine(1)|ovary(1)	2						c.(1723-1725)TGC>TGT		RAS guanyl releasing protein 1 isoform a		G	,	0,3850		0,0,1925	260.0	251.0	254.0		1620,1725	-10.2	0.7	15		254	1,8293		0,1,4146	no	coding-synonymous,coding-synonymous	RASGRP1	NM_001128602.1,NM_005739.3	,	0,1,6071	AA,AG,GG		0.0121,0.0,0.0082	,	540/763,575/798	38791143	1,12143	1925	4147	6072	SO:0001819	synonymous_variant	10125				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38791143G>A	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"""EF-hand domain containing"""	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.1725C>T	15.37:g.38791143G>A						RASGRP1_uc010bbe.2_RNA|RASGRP1_uc010bbf.2_Silent_p.C402C|RASGRP1_uc010bbg.2_Intron|RASGRP1_uc001zkd.3_Silent_p.C540C	p.C575C	NM_005739	NP_005730	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	15	1903	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)	575			Phorbol-ester/DAG-type.		Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Silent	SNP	ENST00000310803.5	37	c.1725C>T	CCDS45222.1																																																																																				0.468	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739		5	331	0	0	0	0.001168	0	5	331				
STRC	161497	broad.mit.edu	37	15	43892287	43892287	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr15:43892287G>A	ENST00000450892.2	-	28	5187	c.5110C>T	c.(5110-5112)Caa>Taa	p.Q1704*	STRC_ENST00000541030.1_Nonsense_Mutation_p.Q931*|RNU6-554P_ENST00000410466.1_RNA	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1704					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)		p.Q1704*(1)		skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CTAGATAGTTGGATGGGACTA	0.557																																							uc001zsf.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(5110-5112)CAA>TAA		stereocilin precursor							82.0	69.0	73.0					15																	43892287		2199	4295	6494	SO:0001587	stop_gained	161497				sensory perception of sound	cell surface		g.chr15:43892287G>A	BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.5110C>T	15.37:g.43892287G>A	ENSP00000401513:p.Gln1704*					STRC_uc010bdl.2_Nonsense_Mutation_p.Q931*|STRC_uc001zse.2_Nonsense_Mutation_p.Q222*	p.Q1704*	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	28	5188	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	1704						Nonsense_Mutation	SNP	ENST00000450892.2	37	c.5110C>T	CCDS10098.1	.	.	.	.	.	.	.	.	.	.	G	43	10.448333	0.99407	.	.	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000541030	.	.	.	4.81	4.81	0.61882	.	0.073018	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-13.534	15.7562	0.78030	0.0:0.0:1.0:0.0	.	.	.	.	X	1704;1704;931	.	ENSP00000299992:Q1704X	Q	-	1	0	STRC	41679579	1.000000	0.71417	0.960000	0.40013	0.971000	0.66376	5.564000	0.67359	2.660000	0.90430	0.491000	0.48974	CAA		0.557	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		17	35	0	0	0	0.007413	0	17	35				
UNC13C	440279	broad.mit.edu	37	15	54793103	54793103	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr15:54793103G>A	ENST00000260323.11	+	21	5228	c.5228G>A	c.(5227-5229)aGc>aAc	p.S1743N	UNC13C_ENST00000545554.1_Missense_Mutation_p.S1743N|UNC13C_ENST00000537900.1_Missense_Mutation_p.S1741N	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1743	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.S1743N(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTGAATCAGAGCTTTGAAATT	0.408																																							uc002ack.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(2)	7						c.(5227-5229)AGC>AAC		unc-13 homolog C							109.0	108.0	109.0					15																	54793103		2007	4207	6214	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54793103G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5228G>A	15.37:g.54793103G>A	ENSP00000260323:p.Ser1743Asn						p.S1743N	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	20	5228	+			1743			MHD1.		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.5228G>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458504	0.63401	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.13778	2.56;2.56;2.56	5.11	5.11	0.69529	Munc13 homology 1 (1);	0.000000	0.85682	D	0.000000	T	0.20088	0.0483	M	0.70903	2.155	0.58432	D	0.999996	B	0.06786	0.001	B	0.06405	0.002	T	0.02391	-1.1166	10	0.34782	T	0.22	.	17.8694	0.88807	0.0:0.0:1.0:0.0	.	1743	Q8NB66	UN13C_HUMAN	N	1743;1743;1741	ENSP00000260323:S1743N;ENSP00000438156:S1743N;ENSP00000442569:S1741N	ENSP00000260323:S1743N	S	+	2	0	UNC13C	52580395	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.767000	0.98960	2.523000	0.85059	0.591000	0.81541	AGC		0.408	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		13	100	0	0	0	0.00245	0	13	100				
GOLGA6B	55889	broad.mit.edu	37	15	72954797	72954797	+	Missense_Mutation	SNP	T	T	C	rs201618622	byFrequency	TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr15:72954797T>C	ENST00000421285.3	+	11	1052	c.1052T>C	c.(1051-1053)gTg>gCg	p.V351A	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	351						Golgi apparatus (GO:0005794)		p.V351A(4)		NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GAGCAGGAGGTGCAGAGAGTG	0.562													t|||	142	0.0283546	0.0159	0.0274	5008	,	,		15500	0.0258		0.0249	False		,,,				2504	0.0521						uc010uks.1		NA																	4	Substitution - Missense(4)		skin(2)|lung(1)|endometrium(1)		0						c.(1051-1053)GTG>GCG		golgi autoantigen, golgin subfamily a, 6B							81.0	81.0	81.0					15																	72954797		2063	3889	5952	SO:0001583	missense	55889							g.chr15:72954797T>C		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6B"""				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.1052T>C	15.37:g.72954797T>C	ENSP00000408132:p.Val351Ala						p.V351A	NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN			11	1093	+			351			Potential.		A8MYY7	Missense_Mutation	SNP	ENST00000421285.3	37	c.1052T>C	CCDS10245.2	.	.	.	.	.	.	.	.	.	.	.	0.612	-0.824760	0.02755	.	.	ENSG00000215186	ENST00000421285	T	0.21031	2.03	0.372	0.372	0.16173	.	.	.	.	.	T	0.07143	0.0181	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36601	-0.9741	9	0.27082	T	0.32	.	4.8248	0.13410	0.0:0.7182:0.0:0.2818	.	351	A6NDN3	GOG6B_HUMAN	A	351	ENSP00000408132:V351A	ENSP00000408132:V351A	V	+	2	0	GOLGA6B	70741851	0.000000	0.05858	0.144000	0.22314	0.053000	0.15095	-2.065000	0.01386	-1.296000	0.02353	-1.896000	0.00531	GTG		0.562	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		3	0	0	0	0	0.000602	0	3	0				
USP7	7874	broad.mit.edu	37	16	8993490	8993490	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr16:8993490T>A	ENST00000344836.4	-	22	2632	c.2434A>T	c.(2434-2436)Acg>Tcg	p.T812S	USP7_ENST00000381886.4_Missense_Mutation_p.T796S|USP7_ENST00000535863.1_Missense_Mutation_p.T713S	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	812					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.T812S(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TTTGATAACGTAACCACAAAT	0.363																																							uc002czl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2434-2436)ACG>TCG		ubiquitin specific peptidase 7							126.0	121.0	123.0					16																	8993490		2197	4300	6497	SO:0001583	missense	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:8993490T>A	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.2434A>T	16.37:g.8993490T>A	ENSP00000343535:p.Thr812Ser					USP7_uc010uyk.1_Missense_Mutation_p.T713S|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.T713S|USP7_uc002czk.2_Missense_Mutation_p.T796S	p.T812S	NM_003470	NP_003461	Q93009	UBP7_HUMAN			22	2633	-			812					A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	c.2434A>T	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	T	12.51	1.958525	0.34565	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549	T;T	0.06768	3.26;3.26	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.04318	0.0119	N	0.03324	-0.35	0.80722	D	1	B;B	0.12630	0.006;0.006	B;B	0.04013	0.001;0.001	T	0.46582	-0.9181	10	0.12430	T	0.62	.	15.9211	0.79575	0.0:0.0:0.0:1.0	.	812;796	Q93009;B7Z815	UBP7_HUMAN;.	S	812;820;713;713	ENSP00000343535:T812S;ENSP00000443646:T713S	ENSP00000343535:T812S	T	-	1	0	USP7	8900991	1.000000	0.71417	0.377000	0.26055	0.986000	0.74619	7.737000	0.84957	2.160000	0.67779	0.454000	0.30748	ACG		0.363	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			37	79	0	0	0	0.005524	0	37	79				
RSL1D1	26156	broad.mit.edu	37	16	11931885	11931885	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr16:11931885G>A	ENST00000571133.1	-	9	1304	c.1232C>T	c.(1231-1233)cCa>cTa	p.P411L	RSL1D1_ENST00000542106.1_Missense_Mutation_p.P191L	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	411					osteoblast differentiation (GO:0001649)|regulation of apoptotic process (GO:0042981)|regulation of cellular senescence (GO:2000772)|regulation of protein localization (GO:0032880)	membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.P411L(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						ctcagatgctggcaaagcctt	0.448																																							uc002dbp.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1231-1233)CCA>CTA		ribosomal L1 domain containing 1							193.0	206.0	202.0					16																	11931885		2197	4300	6497	SO:0001583	missense	26156				regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr16:11931885G>A	AY154473	CCDS10551.1	16p13.13	2011-08-12			ENSG00000171490	ENSG00000171490			24534	protein-coding gene	gene with protein product		615874				15334068, 9859858	Standard	NM_015659		Approved	PBK1, L12, DKFZP564M182, CSIG, UTP30	uc002dbp.1	O76021	OTTHUMG00000129824	ENST00000571133.1:c.1232C>T	16.37:g.11931885G>A	ENSP00000460871:p.Pro411Leu					RSL1D1_uc010buv.1_Missense_Mutation_p.P410L|RSL1D1_uc010uyw.1_Missense_Mutation_p.P191L	p.P411L	NM_015659	NP_056474	O76021	RL1D1_HUMAN			9	1305	-			411					B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	Missense_Mutation	SNP	ENST00000571133.1	37	c.1232C>T	CCDS10551.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.131781	0.00338	.	.	ENSG00000171490	ENST00000355674;ENST00000396503;ENST00000542106	T	0.46063	0.88	4.69	0.0714	0.14382	.	0.771273	0.12383	N	0.473738	T	0.22166	0.0534	L	0.34521	1.04	0.09310	N	0.999999	B;B	0.13145	0.007;0.007	B;B	0.12156	0.007;0.002	T	0.31024	-0.9958	10	0.02654	T	1	0.5933	4.1828	0.10383	0.2875:0.1732:0.5393:0.0	.	411;411	Q32Q62;O76021	.;RL1D1_HUMAN	L	410;411;191	ENSP00000347897:P410L	ENSP00000347897:P410L	P	-	2	0	RSL1D1	11839386	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	0.147000	0.16202	0.245000	0.21373	0.563000	0.77884	CCA		0.448	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252059.2	NM_015659		18	501	0	0	0	0.006122	0	18	501				
CCDC113	29070	broad.mit.edu	37	16	58312467	58312467	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr16:58312467G>A	ENST00000219299.4	+	8	1052	c.973G>A	c.(973-975)Gtc>Atc	p.V325I	CCDC113_ENST00000443128.2_Missense_Mutation_p.V271I	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	325						cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.V325I(1)		large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						GATGACTTACGTCCGGGAGAA	0.587																																							uc002ene.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(973-975)GTC>ATC		coiled-coil domain containing 113 isoform 1							62.0	63.0	62.0					16																	58312467		2198	4300	6498	SO:0001583	missense	29070					protein complex		g.chr16:58312467G>A	AL136785	CCDS10795.1, CCDS45497.1	16q21	2008-02-05			ENSG00000103021	ENSG00000103021			25002	protein-coding gene	gene with protein product						11230166, 11042152	Standard	NM_014157		Approved	HSPC065, DKFZp434N1418	uc002ene.3	Q9H0I3	OTTHUMG00000133489	ENST00000219299.4:c.973G>A	16.37:g.58312467G>A	ENSP00000219299:p.Val325Ile					CCDC113_uc010vid.1_Missense_Mutation_p.V271I	p.V325I	NM_014157	NP_054876	Q9H0I3	CC113_HUMAN			8	1052	+			325			Potential.		B2RAQ7|B4DR20|Q9NZX2	Missense_Mutation	SNP	ENST00000219299.4	37	c.973G>A	CCDS10795.1	.	.	.	.	.	.	.	.	.	.	G	4.616	0.114515	0.08831	.	.	ENSG00000103021	ENST00000443128;ENST00000219299	T;T	0.32753	1.53;1.44	5.67	3.71	0.42584	.	0.390425	0.27500	N	0.019096	T	0.15955	0.0384	N	0.20328	0.56	0.22754	N	0.998779	B;B	0.25486	0.127;0.127	B;B	0.20577	0.03;0.03	T	0.19910	-1.0291	10	0.21014	T	0.42	-7.1426	6.0535	0.19799	0.1663:0.1711:0.6626:0.0	.	271;325	B4DR20;Q9H0I3	.;CC113_HUMAN	I	271;325	ENSP00000402588:V271I;ENSP00000219299:V325I	ENSP00000219299:V325I	V	+	1	0	CCDC113	56869968	0.987000	0.35691	0.023000	0.16930	0.005000	0.04900	2.165000	0.42396	0.744000	0.32741	-0.311000	0.09066	GTC		0.587	CCDC113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257387.2	NM_014157		34	50	0	0	0	0.002836	0	34	50				
NUP88	4927	broad.mit.edu	37	17	5317415	5317415	+	Silent	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr17:5317415G>A	ENST00000573584.1	-	3	1016	c.507C>T	c.(505-507)acC>acT	p.T169T		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	169					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.T169T(1)		endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						GAGTCAGAGAGGTGGAACTGG	0.368																																							uc002gbo.1		NA																	1	Substitution - coding silent(1)		lung(1)	kidney(1)	1						c.(505-507)ACC>ACT		nucleoporin 88kDa							94.0	86.0	89.0					17																	5317415		2203	4300	6503	SO:0001819	synonymous_variant	4927				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity	g.chr17:5317415G>A	Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"""nucleoporin 88kD"""			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.507C>T	17.37:g.5317415G>A						NUP88_uc010vsx.1_Silent_p.T169T|NUP88_uc010cle.1_Silent_p.T169T|NUP88_uc010vsy.1_Silent_p.T169T	p.T169T	NM_002532	NP_002523	Q99567	NUP88_HUMAN			3	533	-			169					D3DTM2|Q9BWE5	Silent	SNP	ENST00000573584.1	37	c.507C>T	CCDS11070.1																																																																																				0.368	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	NM_002532		14	12	0	0	0	0.001855	0	14	12				
TP53	7157	broad.mit.edu	37	17	7578536	7578536	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr17:7578536T>C	ENST00000269305.4	-	5	583	c.394A>G	c.(394-396)Aag>Gag	p.K132E	TP53_ENST00000445888.2_Missense_Mutation_p.K132E|TP53_ENST00000413465.2_Missense_Mutation_p.K132E|TP53_ENST00000420246.2_Missense_Mutation_p.K132E|TP53_ENST00000455263.2_Missense_Mutation_p.K132E|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.K132E	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	132	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.K132E(20)|p.K132Q(13)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.N131del(3)|p.K132*(3)|p.N131fs*27(2)|p.K132fs*38(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.L130fs*16(1)|p.K132W(1)|p.K39E(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAAAACATCTTGTTGAGGGCA	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		67	Substitution - Missense(35)|Deletion - In frame(13)|Whole gene deletion(8)|Deletion - Frameshift(8)|Substitution - Nonsense(3)	p.K132N(40)|p.K132R(32)|p.K132E(19)|p.K132Q(13)|p.K132M(9)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.K132T(4)|p.K132*(2)|p.N131del(2)|p.N131fs*27(2)|p.K132fs*38(2)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.V73fs*9(1)|p.L130fs*16(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.K132_A138delKMFCQLA(1)|p.S127fs*36(1)|p.K132K(1)|p.K132W(1)	breast(11)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(7)|ovary(6)|large_intestine(5)|urinary_tract(5)|lung(5)|bone(4)|upper_aerodigestive_tract(3)|adrenal_gland(2)|stomach(2)|oesophagus(2)|prostate(2)|soft_tissue(1)|cervix(1)|kidney(1)|biliary_tract(1)|pancreas(1)|liver(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM086989|CM973641	TP53	M		c.(394-396)AAG>GAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							46.0	47.0	46.0					17																	7578536		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578536T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.394A>G	17.37:g.7578536T>C	ENSP00000269305:p.Lys132Glu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.K132E|TP53_uc002gih.2_Missense_Mutation_p.K132E|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.K132E|TP53_uc010cni.1_Missense_Mutation_p.K132E|TP53_uc002gij.2_Missense_Mutation_p.K132E|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.K39E|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.K93E	p.K132E	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	588	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	132		K -> T (in sporadic cancers; somatic mutation).|KM -> NL (in a sporadic cancer; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> R (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> Q (in sporadic cancers; somatic mutation).|K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.394A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.670498	0.88348	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99854	-7.19;-7.19;-7.19;-7.19;-7.19;-7.19;-7.19;-7.19	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99876	0.9941	M	0.91768	3.24	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.991;0.999;1.0;0.999;1.0	D;D;D;D;D;D;D	0.97110	0.992;0.992;0.953;0.98;0.995;0.989;1.0	D	0.96352	0.9259	10	0.87932	D	0	-14.0777	13.8301	0.63375	0.0:0.0:0.0:1.0	.	93;132;132;39;132;132;132	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	E	132;132;132;132;132;132;121;39;39;132	ENSP00000410739:K132E;ENSP00000352610:K132E;ENSP00000269305:K132E;ENSP00000398846:K132E;ENSP00000391127:K132E;ENSP00000391478:K132E;ENSP00000423862:K39E;ENSP00000424104:K132E	ENSP00000269305:K132E	K	-	1	0	TP53	7519261	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	7.993000	0.88291	2.206000	0.71126	0.533000	0.62120	AAG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		9	15	0	0	0	0.004482	0	9	15				
CCL8	6355	broad.mit.edu	37	17	32646553	32646553	+	Silent	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr17:32646553G>T	ENST00000394620.1	+	1	499	c.33G>T	c.(31-33)ctG>ctT	p.L11L		NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN	chemokine (C-C motif) ligand 8	11					calcium ion transport (GO:0006816)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|exocytosis (GO:0006887)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)|heparin binding (GO:0008201)|phospholipase activator activity (GO:0016004)|protein kinase activity (GO:0004672)	p.L11L(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				TGTGCCTGCTGCTCATGGCAG	0.512																																							uc002hib.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(31-33)CTG>CTT		small inducible cytokine A8 precursor							71.0	65.0	67.0					17																	32646553		2203	4300	6503	SO:0001819	synonymous_variant	6355				calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity	g.chr17:32646553G>T	X99886	CCDS11280.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000108700	ENSG00000108700		"""Chemokine ligands"", ""Endogenous ligands"""	10635	protein-coding gene	gene with protein product		602283	"""small inducible cytokine subfamily A (Cys-Cys), member 8 (monocyte chemotactic protein 2)"""	SCYA8		9119400	Standard	NM_005623		Approved	MCP-2, HC14	uc002hib.3	P80075	OTTHUMG00000132883	ENST00000394620.1:c.33G>T	17.37:g.32646553G>T							p.L11L	NM_005623	NP_005614	P80075	CCL8_HUMAN			1	488	+		Ovarian(249;0.0443)|Breast(31;0.151)	11					A0AV77|P78388	Silent	SNP	ENST00000394620.1	37	c.33G>T	CCDS11280.1																																																																																				0.512	CCL8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256376.2	NM_005623		13	51	1	0	3.45872e-05	0.004007	3.94245e-05	13	51				
RP11-156P1.2	0	broad.mit.edu	37	17	45127332	45127332	+	IGR	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr17:45127332G>A	ENST00000571841.1	+	0	889				LRRC37A17P_ENST00000570478.1_RNA|RP11-156P1.3_ENST00000575173.1_RNA																							ACTCGCTCCCGCATGACCCAC	0.418																																							uc010wkj.1		NA																	0					NA						c.(529-531)CGC>CAC		SubName: Full=Putative uncharacterized protein LRRC37A3;																																				SO:0001628	intergenic_variant	0							g.chr17:45127332G>A																													17.37:g.45127332G>A						uc010wkl.1_RNA	p.R177H							2	884	+									Missense_Mutation	SNP	ENST00000571841.1	37	c.530G>A																																																																																					0.418	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000440447.1			5	216	0	0	0	0.001168	0	5	216				
KCTD2	23510	broad.mit.edu	37	17	73045381	73045381	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr17:73045381C>T	ENST00000322444.6	+	2	412	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C	ATP5H_ENST00000301587.4_5'Flank|ATP5H_ENST00000344546.4_5'Flank|KCTD2_ENST00000584767.1_3'UTR|KCTD2_ENST00000581589.1_5'UTR	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2	136	BTB.				protein homooligomerization (GO:0051260)		protein complex binding (GO:0032403)	p.R136C(1)		kidney(1)|lung(2)	3	all_lung(278;0.226)					CAACTACCTCCGCCACGGGAA	0.468																																							uc002jmp.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(406-408)CGC>TGC		potassium channel tetramerisation domain							105.0	83.0	90.0					17																	73045381		2203	4300	6503	SO:0001583	missense	23510					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr17:73045381C>T	BC033329	CCDS32728.1	17q25.2	2013-06-20	2013-06-20			ENSG00000180901			21294	protein-coding gene	gene with protein product		613422	"""potassium channel tetramerisation domain containing 2"""			12620391	Standard	XR_248405		Approved	KIAA0176	uc002jmp.3	Q14681		ENST00000322444.6:c.406C>T	17.37:g.73045381C>T	ENSP00000312814:p.Arg136Cys					KCTD2_uc010dfy.1_RNA|KCTD2_uc010dfz.2_RNA|ATP5H_uc002jmn.1_5'Flank|ATP5H_uc002jmo.1_5'Flank|KCTD2_uc002jmq.2_RNA	p.R136C	NM_015353	NP_056168	Q14681	KCTD2_HUMAN			2	473	+	all_lung(278;0.226)		136			BTB.			Missense_Mutation	SNP	ENST00000322444.6	37	c.406C>T	CCDS32728.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410572	0.83340	.	.	ENSG00000180901	ENST00000322444;ENST00000375286	T	0.55930	0.49	4.86	4.86	0.63082	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.84120	0.5402	H	0.98980	4.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90808	0.4699	10	0.72032	D	0.01	-10.8815	17.7578	0.88455	0.0:1.0:0.0:0.0	.	136	Q14681	KCTD2_HUMAN	C	136;118	ENSP00000312814:R136C	ENSP00000312814:R136C	R	+	1	0	KCTD2	70556976	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.496000	0.53288	2.521000	0.84997	0.655000	0.94253	CGC		0.468	KCTD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445538.1			8	84	0	0	0	0.00308	0	8	84				
NPLOC4	55666	broad.mit.edu	37	17	79580446	79580446	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr17:79580446G>A	ENST00000331134.6	-	4	499	c.284C>T	c.(283-285)cCg>cTg	p.P95L	NPLOC4_ENST00000539314.1_5'UTR|NPLOC4_ENST00000374747.5_Missense_Mutation_p.P95L|NPLOC4_ENST00000574344.1_5'UTR	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	95					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.P95L(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TTTGAAGCCCGGTGGAACTGA	0.517																																							uc002kat.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(283-285)CCG>CTG		nuclear protein localization 4							92.0	88.0	89.0					17																	79580446		1964	4141	6105	SO:0001583	missense	55666				cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding	g.chr17:79580446G>A	AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.284C>T	17.37:g.79580446G>A	ENSP00000331487:p.Pro95Leu					NPLOC4_uc002kau.3_Missense_Mutation_p.P95L|NPLOC4_uc010wur.1_5'UTR	p.P95L	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		4	466	-	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		95					Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Missense_Mutation	SNP	ENST00000331134.6	37	c.284C>T	CCDS45812.1	.	.	.	.	.	.	.	.	.	.	G	0.107	-1.143898	0.01728	.	.	ENSG00000182446	ENST00000331134;ENST00000374747	.	.	.	5.82	-11.6	0.00059	.	1.060330	0.07222	N	0.861046	T	0.06096	0.0158	N	0.00483	-1.445	0.22001	N	0.999429	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.39440	-0.9614	9	0.27082	T	0.32	1.1554	7.1631	0.25675	0.2761:0.0:0.3444:0.3795	.	95;95	Q8TAT6-2;Q8TAT6	.;NPL4_HUMAN	L	95;94	.	ENSP00000331487:P95L	P	-	2	0	NPLOC4	77190892	0.001000	0.12720	0.000000	0.03702	0.017000	0.09413	0.197000	0.17197	-1.897000	0.01101	-2.057000	0.00402	CCG		0.517	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440140.1			33	29	0	0	0	0.003271	0	33	29				
POTEC	388468	broad.mit.edu	37	18	14542693	14542693	+	Silent	SNP	C	C	T	rs371316587		TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr18:14542693C>T	ENST00000358970.5	-	1	452	c.453G>A	c.(451-453)aaG>aaA	p.K151K	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	151								p.K151K(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTCTGGGGACCTTACCCCACC	0.592																																							uc010dln.2		NA																	2	Substitution - coding silent(2)		lung(1)|endometrium(1)	skin(3)	3						c.(451-453)AAG>AAA		ANKRD26-like family B, member 2							172.0	158.0	163.0					18																	14542693		692	1591	2283	SO:0001819	synonymous_variant	388468							g.chr18:14542693C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.453G>A	18.37:g.14542693C>T						POTEC_uc010xaj.1_RNA	p.K151K	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			1	907	-			151			ANK 1.			Silent	SNP	ENST00000358970.5	37	c.453G>A	CCDS45835.1																																																																																				0.592	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		6	171	0	0	0	0.008291	0	6	171				
ZNF521	25925	broad.mit.edu	37	18	22804461	22804462	+	Missense_Mutation	DNP	AG	AG	TA			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr18:22804461_22804462AG>TA	ENST00000361524.3	-	4	3568_3569	c.3420_3421CT>TA	c.(3418-3423)tgCTct>tgTAct	p.S1141T	ZNF521_ENST00000538137.2_Missense_Mutation_p.S1141T|ZNF521_ENST00000584787.1_Missense_Mutation_p.S921T	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1141					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.S1141T(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTGCAGCTAGAGCAGCGTGTCT	0.53			T	PAX5	ALL																																		uc002kvk.2		NA		Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)	7						c.(3418-3423)TGCTCT>TGTACT		zinc finger protein 521																																				SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22804461_22804462AG>TA	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3420_3421delinsTA	18.37:g.22804461_22804462delinsTA	ENSP00000354794:p.Ser1141Thr					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.S1141T|ZNF521_uc002kvl.2_Missense_Mutation_p.S921T	p.S1141T	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	3667_3668	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		1141			C2H2-type 26.		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	DNP	ENST00000361524.3	37	c.3420_3421CT>TA	CCDS32806.1																																																																																				0.530	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		25	45	0	0	0	0.004672	0	25	45				
TCF4	6925	broad.mit.edu	37	18	52901847	52901847	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr18:52901847G>T	ENST00000356073.4	-	16	2029	c.1418C>A	c.(1417-1419)cCg>cAg	p.P473Q	TCF4_ENST00000566286.1_Missense_Mutation_p.P470Q|TCF4_ENST00000398339.1_Missense_Mutation_p.P575Q|TCF4_ENST00000570287.2_Missense_Mutation_p.P313Q|TCF4_ENST00000537578.1_Missense_Mutation_p.P449Q|TCF4_ENST00000567880.1_Missense_Mutation_p.P413Q|TCF4_ENST00000564228.1_Missense_Mutation_p.P402Q|TCF4_ENST00000561831.3_Missense_Mutation_p.P313Q|TCF4_ENST00000457482.3_Missense_Mutation_p.P313Q|TCF4_ENST00000565018.2_Missense_Mutation_p.P473Q|TCF4_ENST00000354452.3_Missense_Mutation_p.P473Q|TCF4_ENST00000570177.2_Missense_Mutation_p.P343Q|TCF4_ENST00000564999.1_Missense_Mutation_p.P473Q|TCF4_ENST00000537856.3_Missense_Mutation_p.P343Q|TCF4_ENST00000540999.1_Missense_Mutation_p.P449Q|TCF4_ENST00000564403.2_Missense_Mutation_p.P479Q|TCF4_ENST00000543082.1_Missense_Mutation_p.P431Q|TCF4_ENST00000561992.1_Missense_Mutation_p.P343Q|TCF4_ENST00000568673.1_Missense_Mutation_p.P449Q|TCF4_ENST00000568740.1_Missense_Mutation_p.P448Q|TCF4_ENST00000566279.1_Missense_Mutation_p.P413Q|TCF4_ENST00000544241.2_Missense_Mutation_p.P402Q	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	473					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)	p.P575Q(1)|p.P473Q(1)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CTGTGGAACCGGAACCTGGTT	0.597											OREG0024990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002lfz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(1417-1419)CCG>CAG		transcription factor 4 isoform b							121.0	122.0	122.0					18																	52901847		2203	4300	6503	SO:0001583	missense	6925				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	g.chr18:52901847G>T	M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.1418C>A	18.37:g.52901847G>T	ENSP00000348374:p.Pro473Gln		OREG0024990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	988	TCF4_uc002lfw.3_Missense_Mutation_p.P313Q|TCF4_uc010xdu.1_Missense_Mutation_p.P343Q|TCF4_uc010xdv.1_Missense_Mutation_p.P343Q|TCF4_uc002lfx.2_Missense_Mutation_p.P402Q|TCF4_uc010xdw.1_Missense_Mutation_p.P343Q|TCF4_uc002lfy.2_Missense_Mutation_p.P431Q|TCF4_uc010xdx.1_Missense_Mutation_p.P449Q|TCF4_uc010dph.1_Missense_Mutation_p.P473Q|TCF4_uc010xdy.1_Missense_Mutation_p.P449Q|TCF4_uc002lga.2_Missense_Mutation_p.P575Q|TCF4_uc002lgb.1_Missense_Mutation_p.P313Q|TCF4_uc010dpi.2_Missense_Mutation_p.P479Q|TCF4_uc002lfv.2_Missense_Mutation_p.P256Q	p.P473Q	NM_003199	NP_003190	P15884	ITF2_HUMAN		Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)	16	2030	-			473					B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	ENST00000356073.4	37	c.1418C>A	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727636	0.48833	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17	5.5	5.5	0.81552	.	0.077675	0.56097	D	0.000039	T	0.63768	0.2539	L	0.50333	1.59	0.45205	D	0.998217	B;P;P;P;P;B;B;B;P	0.42620	0.101;0.638;0.507;0.785;0.662;0.374;0.222;0.144;0.524	B;P;B;B;B;B;B;B;B	0.48304	0.136;0.573;0.265;0.382;0.123;0.136;0.206;0.052;0.223	T	0.65261	-0.6211	10	0.62326	D	0.03	-11.0135	18.543	0.91037	0.0:0.0:1.0:0.0	.	449;473;313;575;473;431;402;313;470	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	Q	473;313;473;431;449;449;402;343;575	ENSP00000346440:P473Q;ENSP00000409447:P313Q;ENSP00000348374:P473Q;ENSP00000439656:P431Q;ENSP00000445202:P449Q;ENSP00000440731:P449Q;ENSP00000441562:P402Q;ENSP00000439827:P343Q;ENSP00000381382:P575Q	ENSP00000346440:P473Q	P	-	2	0	TCF4	51052845	1.000000	0.71417	0.964000	0.40570	0.907000	0.53573	8.087000	0.89521	2.758000	0.94735	0.563000	0.77884	CCG		0.597	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		19	60	1	0	1.01871e-10	0.008871	1.29727e-10	19	60				
STK11	6794	broad.mit.edu	37	19	1220685	1220685	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr19:1220685A>T	ENST00000326873.7	+	5	1876	c.703A>T	c.(703-705)Aag>Tag	p.K235*		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	235	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(2)|p.K235*(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCGGCTTCAAGGTGGACAT	0.697		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													uc002lrl.1		14	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	D|Mis|N|F|S	serine/threonine kinase 11 gene (LKB1)			"""E, M, O"""		jejunal harmartoma|ovarian|testicular|pancreatic	NSCLC|pancreatic		23	Whole gene deletion(20)|Unknown(2)|Substitution - Nonsense(1)	p.0?(19)|p.?(2)	cervix(14)|lung(5)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1)	266						c.(703-705)AAG>TAG		serine/threonine protein kinase 11							22.0	28.0	26.0					19																	1220685		1987	4140	6127	SO:0001587	stop_gained	6794	Peutz-Jeghers_syndrome	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:1220685A>T	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.703A>T	19.37:g.1220685A>T	ENSP00000324856:p.Lys235*	TSP Lung(3;<1E-08)					p.K235*	NM_000455	NP_000446	Q15831	STK11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1818	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)	235			Protein kinase.		B2RBX7|E7EW76	Nonsense_Mutation	SNP	ENST00000326873.7	37	c.703A>T	CCDS45896.1	.	.	.	.	.	.	.	.	.	.	A	49	15.118890	0.99823	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-55.1976	14.9586	0.71138	1.0:0.0:0.0:0.0	.	.	.	.	X	235	.	ENSP00000324856:K235X	K	+	1	0	STK11	1171685	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.209000	0.95087	2.135000	0.66039	0.459000	0.35465	AAG		0.697	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		12	17	0	0	0	0.000978	0	12	17				
KEAP1	9817	broad.mit.edu	37	19	10610285	10610285	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr19:10610285G>A	ENST00000171111.5	-	2	972	c.425C>T	c.(424-426)aCg>aTg	p.T142M	KEAP1_ENST00000588024.1_5'Flank|KEAP1_ENST00000393623.2_Missense_Mutation_p.T142M	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	142	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.T142M(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	GATGGAGGCCGTGTAGGCGAA	0.587																																							uc002moq.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(424-426)ACG>ATG		kelch-like ECH-associated protein 1							156.0	125.0	136.0					19																	10610285		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10610285G>A	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.425C>T	19.37:g.10610285G>A	ENSP00000171111:p.Thr142Met					KEAP1_uc002mor.1_Missense_Mutation_p.T142M	p.T142M	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		2	581	-			142			BTB.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.425C>T	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440875	0.83993	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.75154	-0.91;-0.91	4.81	4.81	0.61882	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.90628	0.7061	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93746	0.7054	10	0.87932	D	0	.	15.3825	0.74669	0.0:0.0:1.0:0.0	.	142	Q14145	KEAP1_HUMAN	M	142	ENSP00000171111:T142M;ENSP00000377245:T142M	ENSP00000171111:T142M	T	-	2	0	KEAP1	10471285	1.000000	0.71417	0.951000	0.38953	0.950000	0.60333	9.651000	0.98493	2.232000	0.73038	0.561000	0.74099	ACG		0.587	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		17	22	0	0	0	0.00499	0	17	22				
RPSAP58	388524	broad.mit.edu	37	19	24010294	24010294	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr19:24010294C>G	ENST00000496398.1	+	4	754	c.331C>G	c.(331-333)Cag>Gag	p.Q111E	RP11-255H23.2_ENST00000471224.1_RNA|RPSAP58_ENST00000354585.4_Missense_Mutation_p.Q111E|RP11-255H23.4_ENST00000599944.1_lincRNA					ribosomal protein SA pseudogene 58									p.Q111E(12)		endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						CTTCACTAACCAGATCCAGGC	0.567																																							uc002nrn.2		NA																	12	Substitution - Missense(12)		kidney(6)|urinary_tract(2)|prostate(2)|endometrium(2)		0						c.(331-333)CAG>GAG		ribosomal protein SA																																				SO:0001583	missense	388524							g.chr19:24010294C>G			19p12	2010-06-16			ENSG00000205246	ENSG00000205246			36809	pseudogene	pseudogene						19123937	Standard	NR_003662		Approved		uc002nrn.3		OTTHUMG00000158122	ENST00000496398.1:c.331C>G	19.37:g.24010294C>G	ENSP00000417240:p.Gln111Glu						p.Q111E	NM_002295	NP_002286					4	754	+									Missense_Mutation	SNP	ENST00000496398.1	37	c.331C>G		.	.	.	.	.	.	.	.	.	.	.	13.90	2.375690	0.42105	.	.	ENSG00000205246	ENST00000496398;ENST00000354585	T;T	0.21932	1.98;1.98	2.52	2.52	0.30459	.	0.000000	0.64402	U	0.000001	T	0.17619	0.0423	.	.	.	0.48830	D	0.999718	B	0.34226	0.443	B	0.32624	0.149	T	0.11084	-1.0602	9	0.72032	D	0.01	.	10.8987	0.47038	0.0:1.0:0.0:0.0	.	111	A6NE09	.	E	111	ENSP00000417240:Q111E;ENSP00000346598:Q111E	ENSP00000346598:Q111E	Q	+	1	0	RPSAP58	23802134	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	4.812000	0.62613	1.477000	0.48234	0.627000	0.83407	CAG		0.567	RPSAP58-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000350238.1	NR_003662		3	47	0	0	0	0.004672	0	3	47				
ZNF254	9534	broad.mit.edu	37	19	24310436	24310436	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr19:24310436C>G	ENST00000357002.4	+	4	1749	c.1634C>G	c.(1633-1635)cCc>cGc	p.P545R	ZNF254_ENST00000342944.6_Missense_Mutation_p.P460R	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	545					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P545R(1)					all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				GAAGAGAAACCCTACAAATGT	0.363																																							uc002nru.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1633-1635)CCC>CGC		zinc finger protein 254							37.0	40.0	39.0					19																	24310436		2192	4288	6480	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24310436C>G	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1634C>G	19.37:g.24310436C>G	ENSP00000349494:p.Pro545Arg					ZNF254_uc010xrk.1_Missense_Mutation_p.P460R	p.P545R	NM_203282	NP_975011	O75437	ZN254_HUMAN			4	1768	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	545					A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.1634C>G	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	C	6.321	0.427238	0.11987	.	.	ENSG00000213096	ENST00000342944;ENST00000357002	T;T	0.17213	2.29;2.29	1.11	-0.0638	0.13775	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28599	0.0708	L	0.49126	1.545	0.09310	N	0.999998	D	0.76494	0.999	D	0.73380	0.98	T	0.09885	-1.0654	9	0.72032	D	0.01	.	4.9443	0.13982	0.0:0.7346:0.0:0.2654	.	545	O75437	ZN254_HUMAN	R	460;545	ENSP00000445527:P460R;ENSP00000349494:P545R	ENSP00000445527:P460R	P	+	2	0	ZNF254	24102276	0.054000	0.20591	0.135000	0.22099	0.420000	0.31355	1.343000	0.33930	0.530000	0.28619	0.305000	0.20034	CCC		0.363	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		13	26	0	0	0	0.001368	0	13	26				
TSHZ3	57616	broad.mit.edu	37	19	31769002	31769002	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr19:31769002G>T	ENST00000240587.4	-	2	2024	c.1697C>A	c.(1696-1698)tCg>tAg	p.S566*		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	566					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S566*(1)|p.S383*(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTTCCCCGACGAGCCCAGGGA	0.587																																							uc002nsy.3		NA																	2	Substitution - Nonsense(2)	p.M566I(1)	lung(2)	ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(1696-1698)TCG>TAG		zinc finger protein 537							103.0	104.0	104.0					19																	31769002		2203	4300	6503	SO:0001587	stop_gained	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769002G>T	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1697C>A	19.37:g.31769002G>T	ENSP00000240587:p.Ser566*						p.S566*	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	1762	-	Esophageal squamous(110;0.226)		566					Q9H0G6|Q9P254	Nonsense_Mutation	SNP	ENST00000240587.4	37	c.1697C>A	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	G	36	5.610479	0.96637	.	.	ENSG00000121297	ENST00000240587	.	.	.	5.4	5.4	0.78164	.	0.116963	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.4494	19.1896	0.93660	0.0:0.0:1.0:0.0	.	.	.	.	X	566	.	ENSP00000240587:S566X	S	-	2	0	TSHZ3	36460842	1.000000	0.71417	0.766000	0.31476	0.075000	0.17131	5.774000	0.68906	2.519000	0.84933	0.655000	0.94253	TCG		0.587	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		38	56	1	0	1.67305e-13	0.00623	2.21713e-13	38	56				
LSM14A	26065	broad.mit.edu	37	19	34712504	34712504	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr19:34712504G>A	ENST00000433627.5	+	9	1304	c.1229G>A	c.(1228-1230)aGa>aAa	p.R410K	LSM14A_ENST00000544216.3_Missense_Mutation_p.R410K|LSM14A_ENST00000540746.2_Missense_Mutation_p.R369K	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	410					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.R410K(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					GGGGGATACAGAGGCAGAGGA	0.537																																							uc002nvb.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1228-1230)AGA>AAA		LSM14 homolog A isoform a							103.0	73.0	83.0					19																	34712504		2203	4300	6503	SO:0001583	missense	26065				cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		g.chr19:34712504G>A	AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"""chromosome 19 open reading frame 13"", ""family with sequence similarity 61, member A"", ""LSM14 homolog A (SCD6, S. cerevisiae)"""	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.1229G>A	19.37:g.34712504G>A	ENSP00000413964:p.Arg410Lys					LSM14A_uc002nva.3_Missense_Mutation_p.R410K|LSM14A_uc010xru.1_Missense_Mutation_p.R369K|LSM14A_uc002nvc.3_Missense_Mutation_p.R216K	p.R410K	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN			9	1425	+	Esophageal squamous(110;0.162)		410					B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Missense_Mutation	SNP	ENST00000433627.5	37	c.1229G>A	CCDS46040.1	.	.	.	.	.	.	.	.	.	.	g	36	5.667296	0.96745	.	.	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	T;T;T	0.18960	2.18;2.18;2.18	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.48732	0.1516	M	0.74881	2.28	0.80722	D	1	P;P;D	0.56035	0.956;0.956;0.974	D;D;D	0.70487	0.931;0.931;0.969	T	0.13308	-1.0514	10	0.29301	T	0.29	-16.7807	20.4008	0.98991	0.0:0.0:1.0:0.0	.	369;410;410	B4DTG6;Q8ND56;Q8ND56-2	.;LS14A_HUMAN;.	K	410;410;369	ENSP00000446271:R410K;ENSP00000413964:R410K;ENSP00000446451:R369K	ENSP00000314768:R410K	R	+	2	0	LSM14A	39404344	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.414000	0.97362	2.826000	0.97356	0.655000	0.94253	AGA		0.537	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578		12	32	0	0	0	0.001855	0	12	32				
CD37	951	broad.mit.edu	37	19	49843570	49843570	+	Silent	SNP	C	C	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr19:49843570C>A	ENST00000323906.4	+	8	972	c.831C>A	c.(829-831)ctC>ctA	p.L277L	CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000426897.2_Silent_p.L209L	NM_001774.2	NP_001765.1	P11049	CD37_HUMAN	CD37 molecule	277					defense response to protozoan (GO:0042832)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|positive regulation of immunoglobulin production (GO:0002639)|regulation of defense response to virus (GO:0050688)|regulation of humoral immune response (GO:0002920)	extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.L277L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		ACAACCGGCTCGCTCGATACC	0.577																																							uc002pnd.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(829-831)CTC>CTA		CD37 antigen isoform A							115.0	96.0	102.0					19																	49843570		2203	4300	6503	SO:0001819	synonymous_variant	951					integral to membrane		g.chr19:49843570C>A		CCDS12760.1, CCDS46139.1	19p13-q13.4	2013-02-14	2006-03-28			ENSG00000104894		"""CD molecules"", ""Tetraspanins"""	1666	protein-coding gene	gene with protein product		151523	"""CD37 antigen"""			8436422	Standard	XM_005259435		Approved	TSPAN26	uc002pnd.3	P11049		ENST00000323906.4:c.831C>A	19.37:g.49843570C>A						uc002pnb.1_5'Flank|CD37_uc002pnc.2_RNA|CD37_uc002pne.2_Silent_p.L209L	p.L277L	NM_001774	NP_001765	P11049	CD37_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)	8	952	+		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	277			Cytoplasmic (Potential).		B4DVC1|Q3KPF9	Silent	SNP	ENST00000323906.4	37	c.831C>A	CCDS12760.1																																																																																				0.577	CD37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465532.1			20	24	1	0	1.22574e-08	0.002299	1.5136e-08	20	24				
KLK7	5650	broad.mit.edu	37	19	51483661	51483661	+	Missense_Mutation	SNP	G	G	C	rs369190953		TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr19:51483661G>C	ENST00000391807.1	-	4	405	c.304C>G	c.(304-306)Ccc>Gcc	p.P102A	CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000595638.1_5'Flank|KLK7_ENST00000336317.4_5'UTR|KLK7_ENST00000597707.1_Missense_Mutation_p.P30A|KLK7_ENST00000595820.1_Missense_Mutation_p.P102A	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	102	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.P102A(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		GAGTAGCCGGGGTGGCGGAAT	0.572																																							uc002puo.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(304-306)CCC>GCC		stratum corneum chymotryptic enzyme							132.0	103.0	113.0					19																	51483661		2203	4300	6503	SO:0001583	missense	5650				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51483661G>C	L33404	CCDS12812.1, CCDS59414.1	19q13.33	2011-09-07	2006-10-27			ENSG00000169035		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6368	protein-coding gene	gene with protein product		604438	"""kallikrein 7 (chymotryptic, stratum corneum)"""	PRSS6		8034709, 16800724, 16800723	Standard	NM_005046		Approved	SCCE	uc021uyj.1	P49862		ENST00000391807.1:c.304C>G	19.37:g.51483661G>C	ENSP00000375683:p.Pro102Ala					KLK7_uc002pup.2_Missense_Mutation_p.P102A|KLK7_uc010yco.1_5'UTR|KLK7_uc010eok.2_Missense_Mutation_p.P30A	p.P102A	NM_139277	NP_644806	P49862	KLK7_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)	4	406	-		all_neural(266;0.026)	102			Peptidase S1.		A8K0U5|Q8N5N9|Q8NFV7	Missense_Mutation	SNP	ENST00000391807.1	37	c.304C>G	CCDS12812.1	.	.	.	.	.	.	.	.	.	.	g	19.57	3.853022	0.71719	.	.	ENSG00000169035	ENST00000304045;ENST00000391807	D	0.95482	-3.72	4.6	4.6	0.57074	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.33346	U	0.005008	D	0.96420	0.8832	L	0.52759	1.655	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.96734	0.9541	10	0.87932	D	0	.	13.0031	0.58687	0.0:0.0:1.0:0.0	.	102	P49862	KLK7_HUMAN	A	102	ENSP00000375683:P102A	ENSP00000304791:P102A	P	-	1	0	KLK7	56175473	1.000000	0.71417	0.598000	0.28837	0.027000	0.11550	5.225000	0.65294	2.132000	0.65825	0.448000	0.29417	CCC		0.572	KLK7-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464344.1	NM_005046		17	22	0	0	0	0.00499	0	17	22				
KIR3DL1	3811	broad.mit.edu	37	19	55340832	55340832	+	Silent	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr19:55340832G>A	ENST00000391728.4	+	7	1050	c.1017G>A	c.(1015-1017)ctG>ctA	p.L339L	KIR3DL1_ENST00000358178.4_Silent_p.L244L|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000326542.7_Silent_p.L322L|KIR3DL1_ENST00000538269.1_Silent_p.L339L|KIR3DL1_ENST00000541392.1_Silent_p.L322L	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	339					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.L339L(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CCAGACACCTGCACATTCTGA	0.438																																							uc002qhk.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5						c.(1015-1017)CTG>CTA		killer cell immunoglobulin-like receptor, three							271.0	207.0	229.0					19																	55340832		2174	4151	6325	SO:0001819	synonymous_variant	3811				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity	g.chr19:55340832G>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1017G>A	19.37:g.55340832G>A						KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Silent_p.L264L|KIR3DL1_uc010esf.2_Silent_p.L244L|KIR3DL1_uc010yfo.1_Silent_p.L281L|KIR3DL1_uc002qhl.3_Intron	p.L339L	NM_013289	NP_037421	P43629	KI3L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	7	1080	+			339			Extracellular (Potential).		O43473|Q14946|Q16541	Silent	SNP	ENST00000391728.4	37	c.1017G>A	CCDS42621.1																																																																																				0.438	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		2	0	0	0	0	0.004672	0	2	0				
LTBP1	4052	broad.mit.edu	37	2	33359878	33359878	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr2:33359878G>A	ENST00000404816.2	+	5	1405	c.1052G>A	c.(1051-1053)cGc>cAc	p.R351H	LTBP1_ENST00000390003.4_Missense_Mutation_p.R25H|LTBP1_ENST00000354476.3_Missense_Mutation_p.R351H|LTBP1_ENST00000418533.2_Missense_Mutation_p.R25H|LTBP1_ENST00000407925.1_Missense_Mutation_p.R25H|LTBP1_ENST00000404525.1_Missense_Mutation_p.R25H|LTBP1_ENST00000402934.1_Missense_Mutation_p.R25H			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	351					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.R351H(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CACACTGGCCGCATCAAGGTG	0.478																																							uc002ros.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(1051-1053)CGC>CAC		latent transforming growth factor beta binding							105.0	92.0	97.0					2																	33359878		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33359878G>A		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.1052G>A	2.37:g.33359878G>A	ENSP00000386043:p.Arg351His					LTBP1_uc002rot.2_Missense_Mutation_p.R25H|LTBP1_uc002rou.2_Missense_Mutation_p.R25H|LTBP1_uc002rov.2_Missense_Mutation_p.R25H|LTBP1_uc010ymz.1_Missense_Mutation_p.R25H|LTBP1_uc010yna.1_Missense_Mutation_p.R25H	p.R351H	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			5	1052	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	351					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.1052G>A	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	24.0	4.476984	0.84640	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000432635;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	D;D;D;D;D;D;D	0.85258	-1.96;-1.92;-1.87;-1.8;-1.82;-1.81;-1.79	5.57	4.69	0.59074	.	.	.	.	.	D	0.91171	0.7219	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.997;0.993;0.999;0.999;0.999	D	0.92152	0.5729	9	0.87932	D	0	.	16.5376	0.84376	0.0:0.1308:0.8692:0.0	.	351;25;25;25;25;351	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	H	351;351;40;25;25;25;25;25	ENSP00000386043:R351H;ENSP00000346467:R351H;ENSP00000374653:R25H;ENSP00000393057:R25H;ENSP00000384373:R25H;ENSP00000385359:R25H;ENSP00000384091:R25H	ENSP00000346467:R351H	R	+	2	0	LTBP1	33213382	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.750000	0.98875	1.329000	0.45376	0.462000	0.41574	CGC		0.478	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		4	141	0	0	0	0.000602	0	4	141				
EPCAM	4072	broad.mit.edu	37	2	47606164	47606164	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr2:47606164G>A	ENST00000263735.4	+	6	986	c.628G>A	c.(628-630)Gct>Act	p.A210T	MIR559_ENST00000385188.1_RNA|EPCAM_ENST00000405271.1_Missense_Mutation_p.A238T	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	210					negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|stem cell differentiation (GO:0048863)|ureteric bud development (GO:0001657)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein complex binding (GO:0032403)	p.0?(2)|p.A210T(1)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						TGTGGACATAGCTGATGTGGC	0.294																																							uc002rvx.2		NA																	4	Whole gene deletion(2)|Substitution - Missense(1)|Unknown(1)		haematopoietic_and_lymphoid_tissue(3)|lung(1)	skin(1)	1						c.(628-630)GCT>ACT		epithelial cell adhesion molecule precursor							87.0	86.0	86.0					2																	47606164		2203	4298	6501	SO:0001583	missense	4072	Lynch_syndrome			positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	g.chr2:47606164G>A	M33011	CCDS1833.1	2p21	2014-09-17	2008-12-16	2008-12-16	ENSG00000119888	ENSG00000119888		"""CD molecules"""	11529	protein-coding gene	gene with protein product		185535	"""antigen identified by monoclonal antibody AUA1"", ""tumor-associated calcium signal transducer 1"""	M4S1, MIC18, TACSTD1		8382772, 11306819	Standard	NM_002354		Approved	Ly74, TROP1, GA733-2, EGP34, EGP40, EGP-2, KSA, CD326, Ep-CAM, HEA125, KS1/4, MK-1, MH99, MOC31, 323/A3, 17-1A, TACST-1, CO-17A, ESA	uc002rvx.3	P16422	OTTHUMG00000128853	ENST00000263735.4:c.628G>A	2.37:g.47606164G>A	ENSP00000263735:p.Ala210Thr					EPCAM_uc002rvw.2_Missense_Mutation_p.A238T	p.A210T	NM_002354	NP_002345	P16422	EPCAM_HUMAN			6	986	+			210			Extracellular (Potential).		P18180|Q6FG26|Q6FG49|Q96C47|Q9UCD0	Missense_Mutation	SNP	ENST00000263735.4	37	c.628G>A	CCDS1833.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083651	0.55861	.	.	ENSG00000119888	ENST00000405271;ENST00000263735	T;T	0.76060	-0.99;-0.95	5.86	5.86	0.93980	.	0.226724	0.50627	D	0.000119	T	0.64907	0.2641	L	0.45352	1.415	0.34263	D	0.680075	P;P	0.49253	0.921;0.921	B;B	0.38880	0.284;0.284	T	0.73544	-0.3949	10	0.30078	T	0.28	-27.7505	13.6595	0.62359	0.0732:0.0:0.9268:0.0	.	210;238	P16422;B5MCA4	EPCAM_HUMAN;.	T	238;210	ENSP00000385476:A238T;ENSP00000263735:A210T	ENSP00000263735:A210T	A	+	1	0	EPCAM	47459668	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.397000	0.59690	2.781000	0.95711	0.650000	0.86243	GCT		0.294	EPCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250792.2			20	68	0	0	0	0.001882	0	20	68				
GTF2A1L	11036	broad.mit.edu	37	2	48848037	48848037	+	Silent	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr2:48848037G>T	ENST00000403751.3	+	2	106	c.69G>T	c.(67-69)cgG>cgT	p.R23R	STON1-GTF2A1L_ENST00000405008.1_Silent_p.R727R|STON1-GTF2A1L_ENST00000309827.2_Silent_p.R727R|GTF2A1L_ENST00000430487.2_Intron|STON1-GTF2A1L_ENST00000394754.1_Silent_p.R727R|STON1-GTF2A1L_ENST00000402114.2_Silent_p.R727R|STON1-GTF2A1L_ENST00000394751.3_Silent_p.R727R|GTF2A1L_ENST00000468326.1_3'UTR	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	23					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.R727R(1)		lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAGGAGTTCGGAATCTATTTG	0.289																																							uc010yol.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(2179-2181)CGG>CGT		stonin 1							59.0	60.0	59.0					2																	48848037		2203	4298	6501	SO:0001819	synonymous_variant	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48848037G>T	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.69G>T	2.37:g.48848037G>T						STON1-GTF2A1L_uc002rwp.1_Silent_p.R727R|GTF2A1L_uc002rws.1_Silent_p.R23R|GTF2A1L_uc010yom.1_Intron|GTF2A1L_uc002rwt.2_Silent_p.R23R	p.R727R	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		3	2228	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	727					B4DY14|Q53FD9|Q5D050	Silent	SNP	ENST00000403751.3	37	c.2181G>T	CCDS46281.1																																																																																				0.289	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872		13	44	1	0	0.00316338	0.003163	0.00350769	13	44				
SPTBN1	6711	broad.mit.edu	37	2	54756736	54756736	+	Intron	SNP	T	T	C			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr2:54756736T>C	ENST00000356805.4	+	2	429				AC092839.3_ENST00000433475.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1						actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ACCACTGAGTTTGCCATGAAG	0.483																																							uc010yot.1		NA																	0					0						c.(253-255)TTT>TCT		SubName: Full=Putative uncharacterized protein DKFZp547I014;																																				SO:0001627	intron_variant	56969							g.chr2:54756736T>C		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.148+3033T>C	2.37:g.54756736T>C						SPTBN1_uc002rxu.2_Intron|SPTBN1_uc002rxv.1_Intron	p.F85S	NR_002229						1	378	+								B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.254T>C	CCDS33198.1																																																																																				0.483	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			3	63	0	0	0	0.000248	0	3	63				
RGPD4	285190	broad.mit.edu	37	2	108488692	108488692	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr2:108488692T>C	ENST00000408999.3	+	20	4309	c.4232T>C	c.(4231-4233)aTa>aCa	p.I1411T	RGPD4_ENST00000354986.4_Missense_Mutation_p.I1411T	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1411	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)			p.I1411T(1)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AATCACACAATAACTCCAGAC	0.358																																							uc010ywk.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(4231-4233)ATA>ACA		RANBP2-like and GRIP domain containing 4							38.0	27.0	30.0					2																	108488692		691	1572	2263	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108488692T>C	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.4232T>C	2.37:g.108488692T>C	ENSP00000386810:p.Ile1411Thr					RGPD4_uc002tdu.2_Missense_Mutation_p.I598T|RGPD4_uc010ywl.1_Intron	p.I1411T	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN			20	4314	+			1411			RanBD1 2.		B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.4232T>C	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	10.71	1.427927	0.25726	.	.	ENSG00000196862	ENST00000354986;ENST00000408999	T;T	0.56611	0.45;0.45	2.33	2.33	0.28932	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.66616	0.2807	M	0.87900	2.915	0.32536	N	0.534271	P	0.51147	0.942	P	0.54026	0.74	T	0.74575	-0.3620	9	0.59425	D	0.04	-33.8807	9.2036	0.37275	0.0:0.0:0.0:1.0	.	1411	Q7Z3J3	RGPD4_HUMAN	T	1411	ENSP00000347081:I1411T;ENSP00000386810:I1411T	ENSP00000347081:I1411T	I	+	2	0	RGPD4	107855124	1.000000	0.71417	0.999000	0.59377	0.331000	0.28603	7.712000	0.84684	1.072000	0.40860	0.136000	0.15936	ATA		0.358	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		239	511	0	0	0	0.00361	0	239	511				
LRP1B	53353	broad.mit.edu	37	2	141709451	141709451	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr2:141709451G>T	ENST00000389484.3	-	19	3917	c.2946C>A	c.(2944-2946)agC>agA	p.S982R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	982	LDL-receptor class A 6. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.S982R(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCCATTTGCTGCTAATGCATC	0.443										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(2944-2946)AGC>AGA		low density lipoprotein-related protein 1B							185.0	151.0	163.0					2																	141709451		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141709451G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2946C>A	2.37:g.141709451G>T	ENSP00000374135:p.Ser982Arg	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Missense_Mutation_p.S164R	p.S982R	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	19	3918	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	982			Extracellular (Potential).|LDL-receptor class A 6.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.2946C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337624	0.81911	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.95756	-3.8;-3.8	6.16	6.16	0.99307	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.95793	0.8631	L	0.39898	1.24	0.50632	D	0.999886	D;B	0.55605	0.972;0.446	P;B	0.61477	0.889;0.442	D	0.94891	0.8048	10	0.45353	T	0.12	.	14.9398	0.70983	0.0675:0.0:0.9325:0.0	.	165;982	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	R	982;920;127	ENSP00000374135:S982R;ENSP00000413239:S127R	ENSP00000374135:S982R	S	-	3	2	LRP1B	141425921	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.869000	0.48444	2.937000	0.99478	0.650000	0.86243	AGC		0.443	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		20	31	1	0	7.92952e-12	0.003954	1.03401e-11	20	31				
ARL5A	26225	broad.mit.edu	37	2	152663470	152663470	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr2:152663470C>G	ENST00000295087.8	-	5	667	c.356G>C	c.(355-357)gGa>gCa	p.G119A	ARL5A_ENST00000428992.2_Missense_Mutation_p.G82A	NM_001037174.1|NM_012097.3	NP_001032251.1|NP_036229.1	Q9Y689	ARL5A_HUMAN	ADP-ribosylation factor-like 5A	119					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)	p.G119A(1)		breast(1)|large_intestine(2)|liver(1)|lung(2)	6				BRCA - Breast invasive adenocarcinoma(221;0.153)		AATCAGCAATCCAGCTTTTCT	0.318																																							uc002txx.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(355-357)GGA>GCA		ADP-ribosylation factor-like 5A isoform 1							71.0	67.0	69.0					2																	152663470		2203	4299	6502	SO:0001583	missense	26225				small GTPase mediated signal transduction	intracellular	GTP binding	g.chr2:152663470C>G	AF100740	CCDS2195.1, CCDS46425.1	2q23.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000162980	ENSG00000162980		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	696	protein-coding gene	gene with protein product		608960	"""ADP-ribosylation factor-like 5"""	ARL5			Standard	NM_012097		Approved		uc002txx.1	Q9Y689	OTTHUMG00000131887	ENST00000295087.8:c.356G>C	2.37:g.152663470C>G	ENSP00000295087:p.Gly119Ala					ARL5A_uc010zcc.1_RNA|ARL5A_uc002txv.1_Missense_Mutation_p.G82A|ARL5A_uc002txw.1_Missense_Mutation_p.G82A	p.G119A	NM_012097	NP_036229	Q9Y689	ARL5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.153)	5	675	-			119					Q580I5	Missense_Mutation	SNP	ENST00000295087.8	37	c.356G>C	CCDS2195.1	.	.	.	.	.	.	.	.	.	.	C	7.961	0.746896	0.15710	.	.	ENSG00000162980	ENST00000295087;ENST00000452215;ENST00000428992	D;D	0.81579	-1.51;-1.51	5.6	5.6	0.85130	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.54711	0.1875	N	0.00329	-1.635	0.80722	D	1	B	0.11235	0.004	B	0.13407	0.009	T	0.56709	-0.7934	10	0.38643	T	0.18	-19.166	19.6	0.95557	0.0:1.0:0.0:0.0	.	119	Q9Y689	ARL5A_HUMAN	A	119;82;82	ENSP00000295087:G119A;ENSP00000415950:G82A	ENSP00000295087:G119A	G	-	2	0	ARL5A	152371716	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.999000	0.70665	2.640000	0.89533	0.561000	0.74099	GGA		0.318	ARL5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254837.1			6	53	0	0	0	0.004482	0	6	53				
GCA	25801	broad.mit.edu	37	2	163208879	163208879	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr2:163208879G>C	ENST00000437150.2	+	3	385	c.224G>C	c.(223-225)aGa>aCa	p.R75T	GCA_ENST00000233612.4_Missense_Mutation_p.R56T|GCA_ENST00000473240.1_3'UTR|GCA_ENST00000429691.2_Missense_Mutation_p.R56T	NM_012198.3	NP_036330.1	P28676	GRAN_HUMAN	grancalcin, EF-hand calcium binding protein	75	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				membrane fusion (GO:0061025)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R75T(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						GAACTTCAGAGATGTTTGACA	0.299																																							uc002ucg.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(223-225)AGA>ACA		grancalcin, EF-hand calcium binding protein							165.0	165.0	165.0					2																	163208879		2203	4300	6503	SO:0001583	missense	25801				cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity	g.chr2:163208879G>C	M81637	CCDS2218.1	2q24.2	2013-01-10	2001-11-28		ENSG00000115271	ENSG00000115271		"""EF-hand domain containing"""	15990	protein-coding gene	gene with protein product		607030	"""grancalcin, EF-hand calcium-binding protein"""			1737748, 1530588, 12804766	Standard	NM_012198		Approved	GCL	uc002ucg.3	P28676	OTTHUMG00000132057	ENST00000437150.2:c.224G>C	2.37:g.163208879G>C	ENSP00000394842:p.Arg75Thr					GCA_uc010zcu.1_Missense_Mutation_p.R56T	p.R75T	NM_012198	NP_036330	P28676	GRAN_HUMAN			3	400	+			75			EF-hand 1.		B2R5X3|Q53TB5|Q59EP3	Missense_Mutation	SNP	ENST00000437150.2	37	c.224G>C	CCDS2218.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.826266	0.32329	.	.	ENSG00000115271	ENST00000446271;ENST00000429691;ENST00000437150;ENST00000453113;ENST00000233612	T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45	5.19	-0.136	0.13473	EF-hand-like domain (1);	0.151725	0.64402	D	0.000014	T	0.59878	0.2226	L	0.39898	1.24	0.51233	D	0.999913	P	0.43024	0.798	B	0.31869	0.137	T	0.56420	-0.7982	10	0.10902	T	0.67	.	6.1495	0.20304	0.1681:0.0:0.5708:0.2611	.	75	P28676	GRAN_HUMAN	T	101;56;75;56;56	ENSP00000393218:R101T;ENSP00000412899:R56T;ENSP00000394842:R75T;ENSP00000403805:R56T;ENSP00000233612:R56T	ENSP00000233612:R56T	R	+	2	0	GCA	162917125	1.000000	0.71417	0.952000	0.39060	0.953000	0.61014	1.813000	0.38962	-0.373000	0.07979	-0.907000	0.02831	AGA		0.299	GCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255080.3	NM_012198		20	69	0	0	0	0.001882	0	20	69				
FIGN	55137	broad.mit.edu	37	2	164466086	164466086	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr2:164466086G>T	ENST00000333129.3	-	3	2570	c.2256C>A	c.(2254-2256)aaC>aaA	p.N752K	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	752					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)	p.N752K(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CAAACATTTTGTTCCATTCAA	0.378																																							uc002uck.1		NA																	2	Substitution - Missense(2)		lung(1)|breast(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(2254-2256)AAC>AAA		fidgetin							53.0	52.0	52.0					2																	164466086		1867	4107	5974	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164466086G>T	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.2256C>A	2.37:g.164466086G>T	ENSP00000333836:p.Asn752Lys						p.N752K	NM_018086	NP_060556	Q5HY92	FIGN_HUMAN			3	2567	-			752					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.2256C>A	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108005	0.37242	.	.	ENSG00000182263	ENST00000333129	D	0.98493	-4.96	6.02	4.21	0.49690	.	0.000000	0.85682	D	0.000000	D	0.98789	0.9592	M	0.86864	2.845	0.80722	D	1	D	0.67145	0.996	D	0.65140	0.932	D	0.99399	1.0927	10	0.66056	D	0.02	-36.6586	13.0936	0.59178	0.1314:0.0:0.8686:0.0	.	752	Q5HY92	FIGN_HUMAN	K	752	ENSP00000333836:N752K	ENSP00000333836:N752K	N	-	3	2	FIGN	164174332	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.019000	0.57181	1.554000	0.49487	0.650000	0.86243	AAC		0.378	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		8	62	1	0	0.000157383	0.00308	0.000176921	8	62				
SCN1A	6323	broad.mit.edu	37	2	166900385	166900385	+	Nonsense_Mutation	SNP	G	G	A	rs398123585		TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr2:166900385G>A	ENST00000303395.4	-	11	1836	c.1837C>T	c.(1837-1839)Cga>Tga	p.R613*	SCN1A_ENST00000375405.3_Nonsense_Mutation_p.R613*|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.R613*|SCN1A_ENST00000423058.2_Nonsense_Mutation_p.R613*|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	613					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.R613*(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTCCGTGTCGTCGGGGCACA	0.542																																							uc010zcz.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13	GRCh37	CM065453	SCN1A	M		c.(1837-1839)CGA>TGA		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						173.0	144.0	154.0					2																	166900385		2203	4300	6503	SO:0001587	stop_gained	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166900385G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1837C>T	2.37:g.166900385G>A	ENSP00000303540:p.Arg613*					SCN1A_uc002udo.3_Nonsense_Mutation_p.R482*|SCN1A_uc010fpk.2_Nonsense_Mutation_p.R482*	p.R613*	NM_006920	NP_008851	P35498	SCN1A_HUMAN			11	1855	-			613					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Nonsense_Mutation	SNP	ENST00000303395.4	37	c.1837C>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	32	5.155855	0.94686	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	4.71	1.7	0.24286	.	0.098260	0.43110	D	0.000608	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0429	0.64687	0.0:0.0:0.2704:0.7296	.	.	.	.	X	613	.	ENSP00000303540:R613X	R	-	1	2	SCN1A	166608631	0.003000	0.15002	0.983000	0.44433	0.737000	0.42083	0.452000	0.21795	0.141000	0.18875	0.561000	0.74099	CGA		0.542	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		12	57	0	0	0	0.000978	0	12	57				
B3GALT1	8708	broad.mit.edu	37	2	168726189	168726189	+	Silent	SNP	C	C	A	rs144099662	byFrequency	TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr2:168726189C>A	ENST00000392690.3	+	1	732	c.640C>A	c.(640-642)Cgg>Agg	p.R214R	AC016723.4_ENST00000436982.2_RNA|B3GALT1_ENST00000305861.1_Silent_p.R214R|AC016723.4_ENST00000430546.1_RNA			Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	214					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.R214R(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						AGGACCGATTCGGGATGTCCG	0.438													C|||	9	0.00179712	0.0068	0.0	5008	,	,		21415	0.0		0.0	False		,,,				2504	0.0						uc002udz.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(640-642)CGG>AGG		UDP-Gal:betaGlcNAc beta		C		16,4390	23.3+/-48.9	0,16,2187	96.0	96.0	96.0		640	3.2	1.0	2	dbSNP_134	96	0,8600		0,0,4300	no	coding-synonymous	B3GALT1	NM_020981.3		0,16,6487	AA,AC,CC		0.0,0.3631,0.123		214/327	168726189	16,12990	2203	4300	6503	SO:0001819	synonymous_variant	8708				lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr2:168726189C>A	E07739	CCDS2227.1	2q24.3	2013-02-19			ENSG00000172318	ENSG00000172318		"""Beta 3-glycosyltransferases"""	916	protein-coding gene	gene with protein product		603093				9582303	Standard	NM_020981		Approved	beta3Gal-T1	uc002udz.1	Q9Y5Z6	OTTHUMG00000132163	ENST00000392690.3:c.640C>A	2.37:g.168726189C>A							p.R214R	NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN			2	991	+			214			Lumenal (Potential).		D3DPB8|Q53SS2	Silent	SNP	ENST00000392690.3	37	c.640C>A	CCDS2227.1																																																																																				0.438	B3GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255211.2	NM_020981		9	75	1	0	7.48243e-07	0.006214	8.90245e-07	9	75				
PLEKHA3	65977	broad.mit.edu	37	2	179358664	179358664	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr2:179358664C>T	ENST00000234453.5	+	4	800	c.398C>T	c.(397-399)aCa>aTa	p.T133I	PLEKHA3_ENST00000461474.1_3'UTR	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	133						Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)	p.T133I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			CAAGTTCATACAATACAGGAA	0.403																																							uc002umn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(397-399)ACA>ATA		pleckstrin homology domain containing, family A							125.0	117.0	120.0					2																	179358664		2203	4300	6503	SO:0001583	missense	65977					cytoplasm|membrane		g.chr2:179358664C>T	AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"""Pleckstrin homology (PH) domain containing"""	14338	protein-coding gene	gene with protein product	"""four-phosphate-adaptor protein 1"""	607774	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"""			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446	ENST00000234453.5:c.398C>T	2.37:g.179358664C>T	ENSP00000234453:p.Thr133Ile						p.T133I	NM_019091	NP_061964	Q9HB20	PKHA3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)		4	796	+			133					Q4ZG69|Q86TQ1|Q9NXT3	Missense_Mutation	SNP	ENST00000234453.5	37	c.398C>T	CCDS33336.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426089	0.83667	.	.	ENSG00000116095	ENST00000234453	T	0.13901	2.55	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.21550	0.0519	L	0.50333	1.59	0.80722	D	1	P	0.42908	0.793	B	0.44044	0.439	T	0.00172	-1.1958	10	0.46703	T	0.11	-4.4132	20.1356	0.98028	0.0:1.0:0.0:0.0	.	133	Q9HB20	PKHA3_HUMAN	I	133	ENSP00000234453:T133I	ENSP00000234453:T133I	T	+	2	0	PLEKHA3	179066910	1.000000	0.71417	0.976000	0.42696	0.891000	0.51852	4.936000	0.63506	2.755000	0.94549	0.650000	0.86243	ACA		0.403	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2	NM_019091		8	68	0	0	0	0.006214	0	8	68				
TTN	7273	broad.mit.edu	37	2	179432140	179432140	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr2:179432140C>A	ENST00000591111.1	-	276	74020	c.73796G>T	c.(73795-73797)tGt>tTt	p.C24599F	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.C23672F|TTN_ENST00000460472.2_Missense_Mutation_p.C17175F|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.C17300F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.C26240F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.C17367F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24599	Ig-like 122.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.C17367F(1)|p.C23672F(1)|p.C23670F(1)|p.C17175F(1)|p.C17300F(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTATTTCACATCTAGCAGA	0.388																																							uc010zfg.1		NA																	5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(71014-71016)TGT>TTT		titin isoform N2-A							133.0	136.0	135.0					2																	179432140		1843	4089	5932	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179432140C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.73796G>T	2.37:g.179432140C>A	ENSP00000465570:p.Cys24599Phe					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.C17367F|TTN_uc010zfi.1_Missense_Mutation_p.C17300F|TTN_uc010zfj.1_Missense_Mutation_p.C17175F	p.C23672F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	71239	-			24599					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.71015G>T		.	.	.	.	.	.	.	.	.	.	C	6.036	0.375037	0.11409	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.41	2.65	0.31530	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.36082	0.0954	N	0.04705	-0.18	0.42463	D	0.992793	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.13019	-1.0525	9	0.87932	D	0	.	4.5535	0.12126	0.1263:0.6071:0.1224:0.1442	.	17175;17300;17367;24599	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	23672;17175;17367;17300;17173	ENSP00000343764:C23672F;ENSP00000434586:C17175F;ENSP00000340554:C17367F;ENSP00000352154:C17300F	ENSP00000340554:C17367F	C	-	2	0	TTN	179140386	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	0.765000	0.26546	0.265000	0.21872	-0.218000	0.12543	TGT		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		61	159	1	0	4.32865e-36	0.00361	6.03051e-36	61	159				
TTN	7273	broad.mit.edu	37	2	179614601	179614601	+	Intron	SNP	T	T	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr2:179614601T>A	ENST00000591111.1	-	45	10585				TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.I4176F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAAGAATGATGGAATCCCCT	0.373																																							uc002unb.2		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(12526-12528)ATC>TTC		titin isoform novex-3							65.0	70.0	68.0					2																	179614601		2202	4294	6496	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179614601T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+3249A>T	2.37:g.179614601T>A						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.I4176F	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	12750	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.12526A>T		.	.	.	.	.	.	.	.	.	.	T	15.69	2.909467	0.52439	.	.	ENSG00000155657	ENST00000360870	T	0.44083	0.93	5.84	-3.42	0.04825	.	.	.	.	.	T	0.27489	0.0675	L	0.34521	1.04	0.18873	N	0.999982	B	0.33919	0.432	B	0.30495	0.116	T	0.15350	-1.0440	9	0.49607	T	0.09	.	9.61	0.39657	0.0:0.5203:0.1088:0.3709	.	4176	Q8WZ42-6	.	F	4176	ENSP00000354117:I4176F	ENSP00000354117:I4176F	I	-	1	0	TTN	179322846	0.062000	0.20869	0.006000	0.13384	0.861000	0.49209	0.090000	0.15025	-0.661000	0.05345	-0.290000	0.09829	ATC		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	45	0	0	0	0.001882	0	22	45				
AOX1	316	broad.mit.edu	37	2	201468820	201468820	+	Splice_Site	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr2:201468820G>T	ENST00000374700.2	+	8	910	c.669G>T	c.(667-669)atG>atT	p.M223I		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	223					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.M223I(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CTGAGCTAATGGTGAGTAAAG	0.403																																							uc002uvx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(667-669)ATG>ATT		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						75.0	74.0	74.0					2																	201468820		2203	4300	6503	SO:0001630	splice_region_variant	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201468820G>T	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.669+1G>T	2.37:g.201468820G>T							p.M223I	NM_001159	NP_001150	Q06278	ADO_HUMAN			8	770	+			223					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.669G>T	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	G	3.688	-0.064091	0.07273	.	.	ENSG00000138356	ENST00000374700	T	0.21031	2.03	5.46	3.68	0.42216	FAD-binding, type 2 (1);	0.185113	0.64402	D	0.000019	T	0.19644	0.0472	L	0.57536	1.79	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.04481	-1.0948	10	0.20046	T	0.44	-34.831	10.3069	0.43685	0.21:0.0:0.79:0.0	.	223	Q06278	ADO_HUMAN	I	223	ENSP00000363832:M223I	ENSP00000363832:M223I	M	+	3	0	AOX1	201177065	1.000000	0.71417	0.988000	0.46212	0.048000	0.14542	2.020000	0.41010	0.879000	0.35944	-0.150000	0.13652	ATG		0.403	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159	Missense_Mutation	19	33	1	0	2.94398e-08	0.007413	3.58111e-08	19	33				
RBM44	375316	broad.mit.edu	37	2	238729761	238729761	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr2:238729761T>C	ENST00000409864.1	+	6	2218	c.1964T>C	c.(1963-1965)cTg>cCg	p.L655P	RBM44_ENST00000316997.4_Missense_Mutation_p.L655P			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	654						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.L655P(2)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TCAGCACTACTGTCTCTTTTG	0.378																																							uc002vxi.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(1963-1965)CTG>CCG		RNA binding motif protein 44							56.0	53.0	54.0					2																	238729761		1831	4080	5911	SO:0001583	missense	375316						nucleotide binding|RNA binding	g.chr2:238729761T>C	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.1964T>C	2.37:g.238729761T>C	ENSP00000386727:p.Leu655Pro						p.L655P	NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	6	2096	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	654					A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	c.1964T>C	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	T	10.18	1.280671	0.23392	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.30448	1.53;1.53	5.71	4.53	0.55603	.	.	.	.	.	T	0.50051	0.1593	M	0.73962	2.25	0.19300	N	0.99998	D	0.89917	1.0	D	0.71184	0.972	T	0.44314	-0.9336	9	0.72032	D	0.01	-3.2538	5.1623	0.15068	0.1595:0.0838:0.0:0.7567	.	654	Q6ZP01	RBM44_HUMAN	P	655	ENSP00000321179:L655P;ENSP00000386727:L655P	ENSP00000321179:L655P	L	+	2	0	RBM44	238394500	0.966000	0.33281	0.013000	0.15412	0.098000	0.18820	1.848000	0.39309	0.961000	0.38030	0.472000	0.43445	CTG		0.378	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		16	30	0	0	0	0.00499	0	16	30				
AGXT	189	broad.mit.edu	37	2	241812439	241812439	+	Missense_Mutation	SNP	G	G	A	rs180177240|rs180177239		TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr2:241812439G>A	ENST00000307503.3	+	5	955	c.568G>A	c.(568-570)Ggg>Agg	p.G190R		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	190			G -> R (in HP1). {ECO:0000269|PubMed:10541294, ECO:0000269|PubMed:15849466, ECO:0000269|PubMed:15961946, ECO:0000269|PubMed:9604803}.		cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)	p.G190R(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	ATCCCTGGGCGGGACCCCCCT	0.662																																							uc002waa.3		NA																	1	Substitution - Missense(1)		lung(1)		0	GRCh37	CM993607	AGXT	M		c.(568-570)GGG>AGG		alanine-glyoxylate aminotransferase	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						87.0	82.0	84.0					2																	241812439		2203	4300	6503	SO:0001583	missense	189				glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity	g.chr2:241812439G>A	D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"""oxalosis I"", ""primary hyperoxaluria type 1"", ""L-alanine: glyoxylate aminotransferase 1"", ""serine:pyruvate aminotransferase"", ""glycolicaciduria"""	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.568G>A	2.37:g.241812439G>A	ENSP00000302620:p.Gly190Arg					AGXT_uc010zoi.1_Missense_Mutation_p.G190R	p.G190R	NM_000030	NP_000021	P21549	SPYA_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	5	689	+		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	190		G -> R (in HP1).			Q53QU6	Missense_Mutation	SNP	ENST00000307503.3	37	c.568G>A	CCDS2543.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055522	0.55325	.	.	ENSG00000172482	ENST00000307503	D	0.91521	-2.86	4.14	4.14	0.48551	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.239887	0.41396	D	0.000888	D	0.96932	0.8998	H	0.96633	3.855	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98638	1.0674	9	0.87932	D	0	-26.1991	16.028	0.80555	0.0:0.0:1.0:0.0	.	190;190	B7Z548;P21549	.;SPYA_HUMAN	R	190	ENSP00000302620:G190R	ENSP00000302620:G190R	G	+	1	0	AGXT	241461112	1.000000	0.71417	0.711000	0.30485	0.033000	0.12548	8.545000	0.90657	1.851000	0.53745	0.579000	0.79373	GGG		0.662	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257186.1	NM_000030		13	84	0	0	0	0.003163	0	13	84				
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	40								p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358																																							uc010ztl.1		NA																	4	Substitution - Missense(4)		prostate(4)		0						c.(28-30)ATC>ACC		Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.																																				SO:0001583	missense	284802							g.chr20:29625875T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.119T>C	20.37:g.29625875T>C	ENSP00000278882:p.Ile40Thr					FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Intron	p.I10T							2	61	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.29T>C		.	.	.	.	.	.	.	.	.	.	t	10.51	1.369778	0.24771	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.51071	0.72	1.68	1.68	0.24146	.	0.052751	0.64402	D	0.000001	T	0.59865	0.2225	.	.	.	0.51482	D	0.999924	P	0.49862	0.929	D	0.64687	0.928	T	0.59386	-0.7464	9	0.52906	T	0.07	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	45	F5H5R5	.	T	40;45;40	ENSP00000408863:I45T	ENSP00000278882:I40T	I	+	2	0	FRG1B	28239536	1.000000	0.71417	0.982000	0.44146	0.025000	0.11179	6.565000	0.73974	1.028000	0.39785	0.155000	0.16302	ATC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	79	0	0	0	0.00308	0	3	79				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																							uc010ztl.1		NA																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(31-33)GCC>ACC		Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.																																				SO:0001583	missense	284802							g.chr20:29625877G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Intron	p.A11T							2	63	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.31G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	79	0	0	0	0.00308	0	5	79				
FRG1B	284802	broad.mit.edu	37	20	29625895	29625895	+	Missense_Mutation	SNP	G	G	A	rs76435412	byFrequency	TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr20:29625895G>A	ENST00000278882.3	+	5	519	c.139G>A	c.(139-141)Gga>Aga	p.G47R	FRG1B_ENST00000439954.2_Missense_Mutation_p.G52R|FRG1B_ENST00000358464.4_Missense_Mutation_p.G47R			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	47										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATCTGGCTATGGAAAATATCT	0.343																																							uc010ztl.1		NA																	0					0						c.(49-51)GGA>AGA		Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.																																				SO:0001583	missense	284802							g.chr20:29625895G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.139G>A	20.37:g.29625895G>A	ENSP00000278882:p.Gly47Arg					FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Intron	p.G17R							2	81	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.49G>A		.	.	.	.	.	.	.	.	.	.	g	11.07	1.529986	0.27387	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.59502	0.26	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.53690	0.1812	.	.	.	0.58432	D	0.999996	P	0.36412	0.552	B	0.41894	0.369	T	0.59820	-0.7382	9	0.87932	D	0	.	9.3557	0.38164	0.0:0.0:1.0:0.0	.	52	F5H5R5	.	R	47;52;47	ENSP00000408863:G52R	ENSP00000278882:G47R	G	+	1	0	FRG1B	28239556	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	8.114000	0.89570	1.250000	0.43966	0.184000	0.17185	GGA		0.343	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		15	74	0	0	0	0.007413	0	15	74				
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T	rs558255572		TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	62								p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333													.|||	1	0.000199681	0.0	0.0014	5008	,	,		30607	0.0		0.0	False		,,,				2504	0.0						uc010ztl.1		NA																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(94-96)GAT>GTT		Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.																																				SO:0001583	missense	284802							g.chr20:29625941A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.185A>T	20.37:g.29625941A>T	ENSP00000278882:p.Asp62Val					FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Intron	p.D32V							2	127	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.95A>T		.	.	.	.	.	.	.	.	.	.	a	11.46	1.644922	0.29246	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.55930	0.49	1.68	1.68	0.24146	.	0.000000	0.85682	U	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	67	F5H5R5	.	V	62;67;62	ENSP00000408863:D67V	ENSP00000278882:D62V	D	+	2	0	FRG1B	28239602	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.682000	0.84083	1.028000	0.39785	0.155000	0.16302	GAT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	70	0	0	0	0.008291	0	6	70				
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	89								p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363																																							uc010ztl.1		NA																	4	Substitution - Missense(4)		prostate(2)|kidney(2)		0						c.(175-177)ATT>GTT		Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.																																				SO:0001583	missense	284802							g.chr20:29628263A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.265A>G	20.37:g.29628263A>G	ENSP00000278882:p.Ile89Val					FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Missense_Mutation_p.I11V	p.I59V							3	207	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.175A>G		.	.	.	.	.	.	.	.	.	.	a	8.196	0.797144	0.16327	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44482	0.92	2.08	2.08	0.27032	Actin cross-linking (1);	0.052017	0.85682	D	0.000000	T	0.22666	0.0547	.	.	.	0.33862	D	0.633895	B;B	0.06786	0.0;0.001	B;B	0.20767	0.018;0.031	T	0.12041	-1.0563	9	0.22706	T	0.39	.	3.8663	0.09018	0.8139:0.0:0.1861:0.0	.	94;89	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	V	89;94;89	ENSP00000408863:I94V	ENSP00000278882:I89V	I	+	1	0	FRG1B	28241924	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.345000	0.59360	1.208000	0.43306	0.347000	0.21830	ATT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	66	0	0	0	0.001984	0	3	66				
PARD6B	84612	broad.mit.edu	37	20	49366455	49366455	+	Silent	SNP	A	A	G			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr20:49366455A>G	ENST00000371610.2	+	3	792	c.549A>G	c.(547-549)ccA>ccG	p.P183P	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	183	Interaction with PARD3 and CDC42. {ECO:0000250}.|PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.P183P(1)		NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						GGGTAACACCACATGGCTTAG	0.473																																							uc002xvo.2		NA																	1	Substitution - coding silent(1)		lung(1)	kidney(1)	1						c.(547-549)CCA>CCG		PAR-6 beta							71.0	70.0	70.0					20																	49366455		2203	4300	6503	SO:0001819	synonymous_variant	84612				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding	g.chr20:49366455A>G	AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"""par-6 (partitioning defective 6, C.elegans) homolog beta"", ""par-6 partitioning defective 6 homolog beta (C. elegans)"""			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.549A>G	20.37:g.49366455A>G							p.P183P	NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN			3	792	+			183			PDZ.|Interaction with PARD3 and CDC42 (By similarity).		A2A2A7|Q9Y510	Silent	SNP	ENST00000371610.2	37	c.549A>G	CCDS33485.1																																																																																				0.473	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079697.2	NM_032521		22	41	0	0	0	0.001882	0	22	41				
DIDO1	11083	broad.mit.edu	37	20	61541330	61541330	+	Silent	SNP	G	G	A	rs541453651		TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr20:61541330G>A	ENST00000266070.4	-	4	1207	c.882C>T	c.(880-882)ggC>ggT	p.G294G	DIDO1_ENST00000266071.5_Silent_p.G294G|DIDO1_ENST00000370368.1_Silent_p.G294G|DIDO1_ENST00000370366.1_Silent_p.G294G|DIDO1_ENST00000354665.4_Silent_p.G294G|DIDO1_ENST00000395335.2_Silent_p.G294G|DIDO1_ENST00000395340.1_Silent_p.G294G|DIDO1_ENST00000370371.4_Silent_p.G294G|DIDO1_ENST00000395343.1_Silent_p.G294G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	294					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G294G(2)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCACACAATCGCCATGAAACC	0.448																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(3)	6						c.(880-882)GGC>GGT		death inducer-obliterator 1 isoform c							73.0	72.0	72.0					20																	61541330		2203	4300	6503	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61541330G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.882C>T	20.37:g.61541330G>A						DIDO1_uc002yds.1_Silent_p.G294G|DIDO1_uc002ydt.1_Silent_p.G294G|DIDO1_uc002ydu.1_Silent_p.G294G|DIDO1_uc002ydv.1_Silent_p.G294G|DIDO1_uc002ydw.1_Silent_p.G294G|DIDO1_uc002ydx.1_Silent_p.G294G|DIDO1_uc011aao.1_Silent_p.G294G	p.G294G	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			4	1146	-	Breast(26;5.68e-08)		294			PHD-type.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.882C>T	CCDS33506.1																																																																																				0.448	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		23	35	0	0	0	0.003954	0	23	35				
MN1	4330	broad.mit.edu	37	22	28194109	28194109	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr22:28194109C>G	ENST00000302326.4	-	1	3377	c.2423G>C	c.(2422-2424)gGc>gCc	p.G808A		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	808					intramembranous ossification (GO:0001957)			p.G808A(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GTTGAAGGAGCCCAGCGAGAG	0.677			T	ETV6	"""AML, meningioma"""																																		uc003adj.2		NA		Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		AML|meningioma		1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						c.(2422-2424)GGC>GCC		meningioma  1							28.0	32.0	31.0					22																	28194109		1954	4129	6083	SO:0001583	missense	4330						binding	g.chr22:28194109C>G	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.2423G>C	22.37:g.28194109C>G	ENSP00000304956:p.Gly808Ala						p.G808A	NM_002430	NP_002421	Q10571	MN1_HUMAN			1	3378	-			808					A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	c.2423G>C	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807288	0.70797	.	.	ENSG00000169184	ENST00000302326	T	0.68479	-0.33	3.74	3.74	0.42951	.	0.000000	0.85682	D	0.000000	T	0.71204	0.3312	L	0.29908	0.895	0.52099	D	0.999948	D	0.76494	0.999	D	0.87578	0.998	T	0.71119	-0.4685	10	0.37606	T	0.19	-11.7661	14.2933	0.66295	0.0:1.0:0.0:0.0	.	808	Q10571	MN1_HUMAN	A	808	ENSP00000304956:G808A	ENSP00000304956:G808A	G	-	2	0	MN1	26524109	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.837000	0.62796	1.922000	0.55676	0.462000	0.41574	GGC		0.677	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		22	39	0	0	0	0.001523	0	22	39				
BOD1L1	259282	broad.mit.edu	37	4	13604663	13604663	+	Silent	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr4:13604663C>T	ENST00000040738.5	-	10	3996	c.3861G>A	c.(3859-3861)gtG>gtA	p.V1287V		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1287						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V1287V(1)									GCACAACAGTCACTGAACTTA	0.448																																							uc003gmz.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|breast(1)	6						c.(3859-3861)GTG>GTA		biorientation of chromosomes in cell division							96.0	85.0	89.0					4																	13604663		2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13604663C>T	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.3861G>A	4.37:g.13604663C>T						BOD1L_uc010idr.1_Silent_p.V624V	p.V1287V	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	3978	-			1287					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.3861G>A	CCDS3411.2																																																																																				0.448	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		17	37	0	0	0	0.004007	0	17	37				
LRRC66	339977	broad.mit.edu	37	4	52861066	52861067	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr4:52861066_52861067CC>AA	ENST00000343457.3	-	4	2127_2128	c.2121_2122GG>TT	c.(2119-2124)gaGGgg>gaTTgg	p.707_708EG>DW		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	707						integral component of membrane (GO:0016021)		p.E707_G708>DW(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						AACAGAGACCCCTCATCAGAGT	0.53																																							uc003gzi.2		NA																	1	Complex - compound substitution(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2119-2124)GAGGGG>GATTGG		leucine rich repeat containing 66																																				SO:0001583	missense	339977					integral to membrane		g.chr4:52861066_52861067CC>AA	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.2121_2122delinsAA	4.37:g.52861066_52861067delinsAA	ENSP00000341944:p.E707_G708delinsDW						p.707_708EG>DW	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			4	2134_2135	-			707_708						Missense_Mutation	DNP	ENST00000343457.3	37	c.2121_2122GG>TT	CCDS43229.1																																																																																				0.530	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		31	61	0	0	0	0.004672	0	31	61				
TECRL	253017	broad.mit.edu	37	4	65175604	65175604	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr4:65175604C>A	ENST00000381210.3	-	6	707	c.597G>T	c.(595-597)ttG>ttT	p.L199F	TECRL_ENST00000513125.1_5'UTR|TECRL_ENST00000507440.1_Missense_Mutation_p.L199F	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	199					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						ATAAGGTTTCCAAAAGGTATC	0.338																																							uc003hcv.2		NA																	0					0						c.(595-597)TTG>TTT		steroid 5 alpha-reductase 2-like 2							105.0	110.0	108.0					4																	65175604		2203	4300	6503	SO:0001583	missense	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65175604C>A	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.597G>T	4.37:g.65175604C>A	ENSP00000370607:p.Leu199Phe					TECRL_uc003hcw.2_Missense_Mutation_p.L199F	p.L199F	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN			6	706	-			199						Missense_Mutation	SNP	ENST00000381210.3	37	c.597G>T	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196024	0.58126	.	.	ENSG00000205678	ENST00000507440;ENST00000381210	T;T	0.80033	-1.33;1.44	5.11	3.03	0.35002	.	0.228488	0.36893	N	0.002351	D	0.86385	0.5920	M	0.70595	2.14	0.40181	D	0.977296	D;D	0.89917	0.999;1.0	D;D	0.87578	0.998;0.975	D	0.84659	0.0705	10	0.33940	T	0.23	-11.021	9.6916	0.40131	0.0:0.8014:0.0:0.1986	.	199;199	Q6IN47;Q5HYJ1	.;TECRL_HUMAN	F	199	ENSP00000426043:L199F;ENSP00000370607:L199F	ENSP00000370607:L199F	L	-	3	2	TECRL	64858199	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.573000	0.46007	1.151000	0.42436	0.555000	0.69702	TTG		0.338	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		40	100	1	0	1.03484e-13	0.005524	1.38261e-13	40	100				
EPHA5	2044	broad.mit.edu	37	4	66201731	66201731	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr4:66201731T>G	ENST00000273854.3	-	16	3371	c.2771A>C	c.(2770-2772)aAg>aCg	p.K924T	EPHA5_ENST00000511294.1_Missense_Mutation_p.K925T|EPHA5_ENST00000354839.4_Missense_Mutation_p.K902T|EPHA5_ENST00000432638.2_Missense_Mutation_p.K761T	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	924	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.K924T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TTCATCAAACTTGGGCCTGCT	0.488										TSP Lung(17;0.13)																													uc003hcy.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(2770-2772)AAG>ACG		ephrin receptor EphA5 isoform a precursor							180.0	158.0	165.0					4																	66201731		2203	4299	6502	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66201731T>G	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2771A>C	4.37:g.66201731T>G	ENSP00000273854:p.Lys924Thr	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Missense_Mutation_p.K856T|EPHA5_uc003hcz.2_Missense_Mutation_p.K902T|EPHA5_uc011cah.1_Missense_Mutation_p.K925T|EPHA5_uc011cai.1_Missense_Mutation_p.K903T|EPHA5_uc003hda.2_Missense_Mutation_p.K925T	p.K924T	NM_004439	NP_004430	P54756	EPHA5_HUMAN			16	2964	-			924			Cytoplasmic (Potential).|Protein kinase.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.2771A>C	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.984125	0.74474	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.93	5.93	0.95920	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000007	T	0.39886	0.1095	N	0.00072	-2.265	0.80722	D	1	D;D;D;P	0.89917	1.0;0.999;1.0;0.545	D;D;D;B	0.97110	1.0;0.99;0.999;0.242	T	0.77645	-0.2510	10	0.66056	D	0.02	.	16.3943	0.83563	0.0:0.0:0.0:1.0	.	903;925;902;924	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	T	924;761;902;925	ENSP00000273854:K924T;ENSP00000389208:K761T;ENSP00000346899:K902T;ENSP00000427638:K925T	ENSP00000273854:K924T	K	-	2	0	EPHA5	65884326	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.040000	0.89188	2.281000	0.76405	0.533000	0.62120	AAG		0.488	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		14	76	0	0	0	0.00245	0	14	76				
MARCH1	55016	broad.mit.edu	37	4	165118439	165118439	+	Intron	SNP	T	T	A	rs371295964		TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr4:165118439T>A	ENST00000503008.1	-	2	864				MARCH1_ENST00000514618.1_Intron|MARCH1_ENST00000508725.1_Intron	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase						antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D142V(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GTAACAGCTGTCGAGATATGT	0.507																																							uc011cjk.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(424-426)GAC>GTC		acidic nuclear phosphoprotein 32C							143.0	132.0	136.0					4																	165118439		2203	4300	6503	SO:0001627	intron_variant	23520							g.chr4:165118439T>A	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.113-85625A>T	4.37:g.165118439T>A						MARCH1_uc003iqs.1_Intron	p.D142V	NM_012403	NP_036535	O43423	AN32C_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.242)	1	425	-	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)	142					D3DP29|Q9NWR0	Missense_Mutation	SNP	ENST00000503008.1	37	c.425A>T	CCDS54814.1																																																																																				0.507	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		12	126	0	0	0	0.00245	0	12	126				
SNX24	28966	broad.mit.edu	37	5	122281813	122281813	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr5:122281813G>A	ENST00000261369.4	+	3	393	c.208G>A	c.(208-210)Gtc>Atc	p.V70I	SNX24_ENST00000395451.4_Missense_Mutation_p.V103I|SNX24_ENST00000506996.1_Missense_Mutation_p.V70I|SNX24_ENST00000511211.1_3'UTR|SNX24_ENST00000513881.1_Missense_Mutation_p.V70I	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	sorting nexin 24	70	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.V70I(1)		lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		GGTCCCCAAAGTCTTGGAACA	0.323																																							uc011cwo.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(208-210)GTC>ATC		SBBI31 protein							52.0	56.0	55.0					5																	122281813		2203	4300	6503	SO:0001583	missense	28966				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr5:122281813G>A	AF139461	CCDS4132.1	5q23.2	2008-03-11	2007-08-15		ENSG00000064652	ENSG00000064652		"""Sorting nexins"""	21533	protein-coding gene	gene with protein product						12461558	Standard	NM_014035		Approved	SBBI31	uc011cwo.2	Q9Y343	OTTHUMG00000128913	ENST00000261369.4:c.208G>A	5.37:g.122281813G>A	ENSP00000261369:p.Val70Ile					SNX24_uc003ktf.2_Missense_Mutation_p.V70I|SNX24_uc010jcy.2_Missense_Mutation_p.V70I	p.V70I	NM_014035	NP_054754	Q9Y343	SNX24_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)	3	377	+		Prostate(80;0.0387)	70			PX.		Q6UY33	Missense_Mutation	SNP	ENST00000261369.4	37	c.208G>A	CCDS4132.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505149	0.44558	.	.	ENSG00000064652	ENST00000261369;ENST00000513881;ENST00000395451;ENST00000506996	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.86	5.86	0.93980	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.50752	0.1634	L	0.45470	1.425	0.80722	D	1	P;D	0.61697	0.92;0.99	D;D	0.75484	0.956;0.986	T	0.11397	-1.0589	10	0.27082	T	0.32	-1.002	20.5632	0.99335	0.0:0.0:1.0:0.0	.	70;70	Q9Y343;Q9Y343-2	SNX24_HUMAN;.	I	70;70;103;70	ENSP00000261369:V70I;ENSP00000424149:V70I;ENSP00000378837:V103I;ENSP00000422535:V70I	ENSP00000261369:V70I	V	+	1	0	SNX24	122309712	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.348000	0.97062	2.937000	0.99478	0.650000	0.86243	GTC		0.323	SNX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250885.2	NM_014035		7	41	0	0	0	0.004482	0	7	41				
PCDHB18	54660	broad.mit.edu	37	5	140616088	140616088	+	RNA	SNP	C	C	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr5:140616088C>A	ENST00000526308.1	+	0	2151					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A601A(1)		endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						CGCGCTCGGCCACCGCCACGC	0.716																																							uc003ljc.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1801-1803)GCC>GCA		SubName: Full=Similar to protocadherin-3 (Pcdh3);																																						54660							g.chr5:140616088C>A	AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140616088C>A							p.A601A	NR_001281						1	2151	+								B3KTF8	Silent	SNP	ENST00000526308.1	37	c.1803C>A																																																																																					0.716	PCDHB18-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000394776.1			4	38	1	0	1.23904e-05	0.000602	1.42228e-05	4	38				
HIST1H3D	8351	broad.mit.edu	37	6	26199202	26199202	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr6:26199202G>A	ENST00000377831.5	-	0	319				HIST1H2BF_ENST00000359985.1_5'Flank|HIST1H2AD_ENST00000341023.1_Silent_p.N90N|HIST1H3D_ENST00000356476.2_5'Flank	NM_003530.3	NP_003521.2	P68431	H31_HUMAN	histone cluster 1, H3d						blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.N90N(1)		NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				GCTCCTCGTCGTTGCGGATGG	0.597																																					GBM(108;3816 4467)	GBM(108;3816 4467)	uc003ngv.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(-136--132)AACGA>AATGA		histone cluster 1, H3d							119.0	115.0	116.0					6																	26199202		2203	4300	6503			8351				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26199202G>A	Z80784	CCDS4590.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197409	ENSG00000197409		"""Histones / Replication-dependent"""	4767	protein-coding gene	gene with protein product		602811	"""H3 histone family, member B"", ""histone 1, H3d"""	H3FB		9119399, 12408966	Standard	NM_003530		Approved	H3/b	uc003ngv.4	P68431	OTTHUMG00000014433	ENST00000377831.5:c.-135C>T	6.37:g.26199202G>A						HIST1H2AD_uc003ngw.2_Silent_p.N90N|HIST1H2BF_uc003ngx.2_5'Flank		NM_003530	NP_003521	P68431	H31_HUMAN			1	263	-		all_hematologic(11;0.196)						A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Translation_Start_Site	SNP	ENST00000377831.5	37	c.-134C>T	CCDS4590.1																																																																																				0.597	HIST1H3D-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003530		24	132	0	0	0	0.005443	0	24	132				
BAI3	577	broad.mit.edu	37	6	69640468	69640468	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr6:69640468G>T	ENST00000370598.1	+	4	1596	c.775G>T	c.(775-777)Gat>Tat	p.D259Y		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	259					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D259Y(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AATGATGGGAGATCATACAAT	0.368																																							uc003pev.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(775-777)GAT>TAT		brain-specific angiogenesis inhibitor 3							85.0	83.0	84.0					6																	69640468		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69640468G>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.775G>T	6.37:g.69640468G>T	ENSP00000359630:p.Asp259Tyr					BAI3_uc010kak.2_Missense_Mutation_p.D259Y	p.D259Y	NM_001704	NP_001695	O60242	BAI3_HUMAN			4	1223	+		all_lung(197;0.212)	259			Extracellular (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.775G>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.635405	0.47049	.	.	ENSG00000135298	ENST00000370598	T	0.20881	2.04	4.93	4.93	0.64822	.	0.122950	0.53938	D	0.000053	T	0.10465	0.0256	N	0.08118	0	0.80722	D	1	P	0.50943	0.94	P	0.47299	0.543	T	0.14699	-1.0463	10	0.87932	D	0	.	18.5065	0.90900	0.0:0.0:1.0:0.0	.	259	O60242	BAI3_HUMAN	Y	259	ENSP00000359630:D259Y	ENSP00000359630:D259Y	D	+	1	0	BAI3	69697189	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.415000	0.80131	2.441000	0.82636	0.585000	0.79938	GAT		0.368	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			9	23	1	0	2.74318e-10	0.006214	3.46619e-10	9	23				
GABRR1	2569	broad.mit.edu	37	6	89888768	89888768	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr6:89888768G>T	ENST00000454853.2	-	10	1271	c.1161C>A	c.(1159-1161)agC>agA	p.S387R	GABRR1_ENST00000435811.1_Missense_Mutation_p.S370R|GABRR1_ENST00000369451.3_Missense_Mutation_p.S300R	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	387					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.S381R(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	GAGGTAATCCGCTGGTGCAGG	0.542																																							uc003pna.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1159-1161)AGC>AGA		gamma-aminobutyric acid (GABA) receptor, rho 1	Picrotoxin(DB00466)						59.0	52.0	54.0					6																	89888768		2203	4300	6503	SO:0001583	missense	2569				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89888768G>T		CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.1161C>A	6.37:g.89888768G>T	ENSP00000412673:p.Ser387Arg					GABRR1_uc011dzv.1_Missense_Mutation_p.S364R	p.S387R	NM_002042	NP_002033	P24046	GBRR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00917)	10	1616	-		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	387			Cytoplasmic (Probable).		A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	ENST00000454853.2	37	c.1161C>A	CCDS5019.2	.	.	.	.	.	.	.	.	.	.	G	3.793	-0.043262	0.07452	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	D;D;D	0.84800	-1.9;-1.9;-1.9	5.65	0.597	0.17504	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.129649	0.64402	D	0.000001	T	0.49321	0.1550	N	0.05351	-0.065	0.27800	N	0.942506	B;B	0.19706	0.038;0.0	B;B	0.29942	0.109;0.0	T	0.48896	-0.8994	9	.	.	.	-3.6967	10.1942	0.43045	0.5983:0.0:0.4017:0.0	.	370;387	P24046-2;P24046	.;GBRR1_HUMAN	R	387;370;300;300	ENSP00000412673:S387R;ENSP00000394687:S370R;ENSP00000358463:S300R	.	S	-	3	2	GABRR1	89945487	0.287000	0.24315	0.910000	0.35882	0.012000	0.07955	-0.348000	0.07740	-0.124000	0.11724	-0.940000	0.02684	AGC		0.542	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2			11	21	1	0	1.08611e-07	0.000978	1.31137e-07	11	21				
ZBTB24	9841	broad.mit.edu	37	6	109802316	109802316	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr6:109802316T>C	ENST00000230122.3	-	2	1081	c.914A>G	c.(913-915)tAc>tGc	p.Y305C		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	305					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y305C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		AAAGTGATTGTACTTAAAGAC	0.473																																							uc003ptl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(913-915)TAC>TGC		zinc finger and BTB domain containing 24 isoform							125.0	124.0	124.0					6																	109802316		2203	4300	6503	SO:0001583	missense	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109802316T>C	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.914A>G	6.37:g.109802316T>C	ENSP00000230122:p.Tyr305Cys					ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Missense_Mutation_p.Y305C|ZBTB24_uc010kdt.1_RNA|ZBTB24_uc003ptm.2_Missense_Mutation_p.Y305C	p.Y305C	NM_014797	NP_055612	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	2	1082	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	305			C2H2-type 1.		Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	ENST00000230122.3	37	c.914A>G	CCDS34509.1	.	.	.	.	.	.	.	.	.	.	T	13.34	2.208331	0.39003	.	.	ENSG00000112365	ENST00000230122	T	0.08546	3.08	5.37	5.37	0.77165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.169796	0.49916	D	0.000122	T	0.03608	0.0103	L	0.29908	0.895	0.34981	D	0.754073	P;B	0.39624	0.681;0.143	B;B	0.37480	0.251;0.064	T	0.43637	-0.9379	10	0.41790	T	0.15	-27.2984	15.5373	0.76013	0.0:0.0:0.0:1.0	.	305;305	O43167-2;O43167	.;ZBT24_HUMAN	C	305	ENSP00000230122:Y305C	ENSP00000230122:Y305C	Y	-	2	0	ZBTB24	109909009	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	4.452000	0.60054	2.248000	0.74166	0.459000	0.35465	TAC		0.473	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		46	103	0	0	0	0.00361	0	46	103				
DDO	8528	broad.mit.edu	37	6	110714107	110714107	+	Silent	SNP	A	A	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr6:110714107A>T	ENST00000368924.3	-	5	996	c.981T>A	c.(979-981)ccT>ccA	p.P327P	DDO_ENST00000368923.3_Silent_p.P268P	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	299					aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|D-amino acid catabolic process (GO:0019478)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insemination (GO:0007320)|oxidation-reduction process (GO:0055114)	peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-aspartate oxidase activity (GO:0008445)|receptor binding (GO:0005102)	p.P327P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		GGTGGACTACAGGCAGCCTCT	0.637																																							uc003puc.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(979-981)CCT>CCA		D-aspartate oxidase isoform a							83.0	75.0	78.0					6																	110714107		2203	4300	6503	SO:0001819	synonymous_variant	8528				aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity	g.chr6:110714107A>T	D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	1.4.3.1		2727	protein-coding gene	gene with protein product		124450				9163533	Standard	NM_003649		Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.981T>A	6.37:g.110714107A>T						C6orf186_uc003pub.2_Intron|DDO_uc003pud.2_Silent_p.P268P	p.P327P	NM_003649	NP_003640	Q99489	OXDD_HUMAN		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)	5	985	-		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)	299					A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	Silent	SNP	ENST00000368924.3	37	c.981T>A	CCDS5082.1																																																																																				0.637	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041796.1			28	35	0	0	0	0.004656	0	28	35				
PKD1L1	168507	broad.mit.edu	37	7	47894610	47894610	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr7:47894610C>A	ENST00000289672.2	-	30	4779	c.4729G>T	c.(4729-4731)Gta>Tta	p.V1577L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1577					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.V1577L(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CGAAGTAATACAAATGTCGTT	0.348																																							uc003tny.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(4729-4731)GTA>TTA		polycystin-1L1							75.0	76.0	75.0					7																	47894610		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47894610C>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.4729G>T	7.37:g.47894610C>A	ENSP00000289672:p.Val1577Leu						p.V1577L	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			30	4729	-			1577			Extracellular (Potential).		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.4729G>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028783	0.35797	.	.	ENSG00000158683	ENST00000289672	T	0.20463	2.07	5.22	-0.797	0.10909	.	1.148870	0.06983	N	0.820304	T	0.13030	0.0316	L	0.29908	0.895	0.09310	N	1	P	0.43788	0.817	B	0.41894	0.369	T	0.16394	-1.0404	10	0.25751	T	0.34	-1.8538	1.301	0.02079	0.4298:0.2676:0.1195:0.1831	.	1577	Q8TDX9	PK1L1_HUMAN	L	1577	ENSP00000289672:V1577L	ENSP00000289672:V1577L	V	-	1	0	PKD1L1	47861135	0.000000	0.05858	0.003000	0.11579	0.765000	0.43378	-0.882000	0.04174	-0.037000	0.13646	0.655000	0.94253	GTA		0.348	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		18	60	1	0	5.01169e-05	0.00499	5.67296e-05	18	60				
TYW1B	441250	broad.mit.edu	37	7	72081774	72081774	+	RNA	SNP	A	A	G	rs3015854	byFrequency	TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr7:72081774A>G	ENST00000435769.2	-	0	1791				TYW1B_ENST00000343721.5_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										GCCAGGGCACATGGGCCATGG	0.493																																							uc011kej.1		NA																	0					0						c.(1666-1668)CAT>CAC		tRNA-yW synthesizing protein 1 homolog B isoform							226.0	179.0	193.0					7																	72081774		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72081774A>G	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72081774A>G						TYW1B_uc011keh.1_Silent_p.H394H|TYW1B_uc011kei.1_Silent_p.H182H	p.H556H	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN			16	1827	-			556					A6NG09|B4DFY2|Q3KQX2	Silent	SNP	ENST00000435769.2	37	c.1668T>C																																																																																					0.493	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		7	77	0	0	0	0.001984	0	7	77				
ACTR3B	57180	broad.mit.edu	37	7	152549330	152549330	+	Silent	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr7:152549330G>A	ENST00000256001.8	+	10	1205	c.1071G>A	c.(1069-1071)agG>agA	p.R357R	ACTR3B_ENST00000377776.3_Intron|ACTR3B_ENST00000537264.1_Silent_p.R269R|ACTR3B_ENST00000397282.2_Silent_p.R269R	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	357						cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.R357R(1)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		GCGGCGGGAGGATCAAGGTAG	0.637																																							uc003wle.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1069-1071)AGG>AGA		actin-related protein 3-beta isoform 1							69.0	67.0	67.0					7																	152549330		2203	4300	6503	SO:0001819	synonymous_variant	57180				regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding	g.chr7:152549330G>A		CCDS5934.1, CCDS34782.1	7q36.1	2010-07-20			ENSG00000133627	ENSG00000133627			17256	protein-coding gene	gene with protein product						10806390	Standard	NM_001040135		Approved	ARP11, ARP3beta	uc003wle.2	Q9P1U1	OTTHUMG00000151463	ENST00000256001.8:c.1071G>A	7.37:g.152549330G>A						ACTR3B_uc003wlf.1_Intron|ACTR3B_uc003wlg.1_Silent_p.R269R|ACTR3B_uc011kvp.1_Silent_p.R269R	p.R357R	NM_020445	NP_065178	Q9P1U1	ARP3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)	10	1188	+		all_hematologic(28;0.0592)|Prostate(32;0.191)	357					A8MTG1|B4DFW4|Q7Z526|Q96BT2	Silent	SNP	ENST00000256001.8	37	c.1071G>A	CCDS5934.1																																																																																				0.637	ACTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322803.1	NM_020445		12	38	0	0	0	0.001368	0	12	38				
RP1L1	94137	broad.mit.edu	37	8	10470626	10470626	+	Missense_Mutation	SNP	G	G	A	rs374588944		TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr8:10470626G>A	ENST00000382483.3	-	4	1205	c.982C>T	c.(982-984)Cgc>Tgc	p.R328C		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	328					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.R328C(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGGTGGAAGCGGACTTTCATC	0.657																																							uc003wtc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(982-984)CGC>TGC		retinitis pigmentosa 1-like 1							82.0	92.0	89.0					8																	10470626		2152	4243	6395	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10470626G>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.982C>T	8.37:g.10470626G>A	ENSP00000371923:p.Arg328Cys						p.R328C	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	1211	-			328					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.982C>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630914	0.87660	.	.	ENSG00000183638	ENST00000382483	T	0.17854	2.25	5.44	4.56	0.56223	.	0.000000	0.33916	U	0.004439	T	0.32763	0.0840	M	0.67397	2.05	0.80722	D	1	D	0.76494	0.999	P	0.55545	0.778	T	0.10636	-1.0621	10	0.87932	D	0	-12.7513	13.1339	0.59399	0.0772:0.0:0.9228:0.0	.	328	A6NKC6	.	C	328	ENSP00000371923:R328C	ENSP00000371923:R328C	R	-	1	0	RP1L1	10508036	1.000000	0.71417	0.997000	0.53966	0.789000	0.44602	6.460000	0.73518	1.283000	0.44513	0.655000	0.94253	CGC		0.657	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			31	52	0	0	0	0.001786	0	31	52				
CSMD3	114788	broad.mit.edu	37	8	113694836	113694836	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr8:113694836C>A	ENST00000297405.5	-	16	2756	c.2512G>T	c.(2512-2514)Gga>Tga	p.G838*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.G838*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.G798*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.G734*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	838	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G838*(1)|p.G798*(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTGGTATTCCAGGATCAGGG	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(2512-2514)GGA>TGA		CUB and Sushi multiple domains 3 isoform 1							91.0	91.0	91.0					8																	113694836		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113694836C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2512G>T	8.37:g.113694836C>A	ENSP00000297405:p.Gly838*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Nonsense_Mutation_p.G110*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.G798*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.G734*	p.G838*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			16	2671	-			838			Sushi 4.|Extracellular (Potential).		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.2512G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	44	10.879835	0.99483	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.58	5.58	0.84498	.	0.075599	0.52532	D	0.000066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	19.557	0.95354	0.0:1.0:0.0:0.0	.	.	.	.	X	798;838;178;734;838	.	ENSP00000297405:G838X	G	-	1	0	CSMD3	113764012	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.623000	0.88846	0.650000	0.86243	GGA		0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		28	68	1	0	1.17739e-12	0.005443	1.5477e-12	28	68				
CCBL1	883	broad.mit.edu	37	9	131605043	131605043	+	Missense_Mutation	SNP	C	C	T	rs551408131		TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr9:131605043C>T	ENST00000302586.3	-	3	253	c.91G>A	c.(91-93)Gtg>Atg	p.V31M	CCBL1_ENST00000436267.2_Missense_Mutation_p.V125M|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000320665.6_Missense_Mutation_p.V31M	NM_001122671.1|NM_004059.4	NP_001116143.1|NP_004050.3	Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	31					cellular amino acid biosynthetic process (GO:0008652)|cellular modified amino acid metabolic process (GO:0006575)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine catabolic process (GO:0097053)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|glutamine-phenylpyruvate transaminase activity (GO:0047316)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-glutamine:pyruvate aminotransferase activity (GO:0047945)|L-phenylalanine-oxaloacetate transaminase activity (GO:0036141)|L-phenylalanine:pyruvate aminotransferase activity (GO:0047312)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.V31M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)	CCCAAGTTCACGACGTCATGC	0.562													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20125	0.0		0.0	False		,,,				2504	0.0						uc004bwh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(91-93)GTG>ATG		kynurenine aminotransferase I isoform a	L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)						66.0	67.0	67.0					9																	131605043		2009	4189	6198	SO:0001583	missense	883				kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr9:131605043C>T	Y17448	CCDS43884.1, CCDS48038.1, CCDS75915.1	9q34.11	2008-03-11	2008-03-11		ENSG00000171097	ENSG00000171097	2.6.1.64		1564	protein-coding gene	gene with protein product	"""glutamine transaminase K"", ""kyneurenine aminotransferase"""	600547	"""cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)"""			7883047	Standard	NM_001122671		Approved	KATI, GTK	uc004bwh.3	Q16773	OTTHUMG00000020767	ENST00000302586.3:c.91G>A	9.37:g.131605043C>T	ENSP00000302227:p.Val31Met					CCBL1_uc004bwf.2_Missense_Mutation_p.V65M|CCBL1_uc004bwg.2_RNA|CCBL1_uc010myn.2_Missense_Mutation_p.V31M|CCBL1_uc004bwj.2_Missense_Mutation_p.V31M|CCBL1_uc011mbl.1_Missense_Mutation_p.V125M|CCBL1_uc004bwi.2_RNA|CCBL1_uc010myo.2_Missense_Mutation_p.V31M	p.V31M	NM_004059	NP_004050	Q16773	KAT1_HUMAN			3	276	-			31					Q5T275|Q8N191	Missense_Mutation	SNP	ENST00000302586.3	37	c.91G>A	CCDS43884.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.267505	0.59540	.	.	ENSG00000171097	ENST00000302586;ENST00000372610;ENST00000320665;ENST00000436267;ENST00000451800;ENST00000416084;ENST00000427720	D;D;D;D;D	0.90732	-2.72;-1.9;-2.72;-2.72;-2.72	6.07	4.21	0.49690	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.059464	0.64402	D	0.000002	D	0.96262	0.8781	H	0.95043	3.615	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.95823	0.8851	10	0.87932	D	0	-21.1601	10.1184	0.42605	0.1376:0.7915:0.0:0.0709	.	125;31;31;31;31	B7Z4W5;A8K563;Q16773-2;Q16773;Q5T278	.;.;.;KAT1_HUMAN;.	M	31;32;31;125;31;31;32	ENSP00000302227:V31M;ENSP00000317342:V31M;ENSP00000399415:V125M;ENSP00000390377:V31M;ENSP00000412402:V31M	ENSP00000302227:V31M	V	-	1	0	CCBL1	130644864	0.999000	0.42202	0.485000	0.27403	0.290000	0.27261	4.249000	0.58766	0.872000	0.35775	0.655000	0.94253	GTG		0.562	CCBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054521.2			21	23	0	0	0	0.002299	0	21	23				
NLGN4X	57502	broad.mit.edu	37	X	5821243	5821243	+	Silent	SNP	C	C	T	rs9785605		TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chrX:5821243C>T	ENST00000381095.3	-	5	2103	c.1476G>A	c.(1474-1476)gaG>gaA	p.E492E	NLGN4X_ENST00000538097.1_Silent_p.E492E|NLGN4X_ENST00000381093.2_Silent_p.E512E|NLGN4X_ENST00000275857.6_Silent_p.E492E|NLGN4X_ENST00000381092.1_Silent_p.E492E	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	492					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.E492E(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CATAGGGGACCTCATCACCAT	0.557																																							uc010ndh.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.(1474-1476)GAG>GAA		X-linked neuroligin 4 precursor							97.0	80.0	86.0					X																	5821243		2203	4300	6503	SO:0001819	synonymous_variant	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5821243C>T	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1476G>A	X.37:g.5821243C>T						NLGN4X_uc004crp.2_Silent_p.E512E|NLGN4X_uc004crq.2_Silent_p.E492E|NLGN4X_uc010ndi.2_Silent_p.E529E|NLGN4X_uc004crr.2_Silent_p.E492E|NLGN4X_uc010ndj.2_Silent_p.E492E	p.E492E	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN			5	1977	-			492			Extracellular (Potential).		Q6UX10|Q9ULG0	Silent	SNP	ENST00000381095.3	37	c.1476G>A	CCDS14126.1																																																																																				0.557	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		28	40	0	0	0	0.004289	0	28	40				
NLGN4X	57502	broad.mit.edu	37	X	5821249	5821249	+	Silent	SNP	A	A	G	rs9785509		TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chrX:5821249A>G	ENST00000381095.3	-	5	2097	c.1470T>C	c.(1468-1470)ggT>ggC	p.G490G	NLGN4X_ENST00000538097.1_Silent_p.G490G|NLGN4X_ENST00000381093.2_Silent_p.G510G|NLGN4X_ENST00000275857.6_Silent_p.G490G|NLGN4X_ENST00000381092.1_Silent_p.G490G	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	490					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.G490G(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GGACCTCATCACCATGGGCCG	0.567																																							uc010ndh.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.(1468-1470)GGT>GGC		X-linked neuroligin 4 precursor							93.0	78.0	84.0					X																	5821249		2203	4300	6503	SO:0001819	synonymous_variant	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5821249A>G	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1470T>C	X.37:g.5821249A>G						NLGN4X_uc004crp.2_Silent_p.G510G|NLGN4X_uc004crq.2_Silent_p.G490G|NLGN4X_uc010ndi.2_Silent_p.G527G|NLGN4X_uc004crr.2_Silent_p.G490G|NLGN4X_uc010ndj.2_Silent_p.G490G	p.G490G	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN			5	1971	-			490			Extracellular (Potential).		Q6UX10|Q9ULG0	Silent	SNP	ENST00000381095.3	37	c.1470T>C	CCDS14126.1																																																																																				0.567	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		24	38	0	0	0	0.003271	0	24	38				
MAGEB6	158809	broad.mit.edu	37	X	26211971	26211971	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chrX:26211971G>T	ENST00000379034.1	+	2	157	c.8G>T	c.(7-9)cGg>cTg	p.R3L		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	3								p.R3L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ATCATGCCTCGGGGTCACAAG	0.572																																							uc004dbr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(7-9)CGG>CTG		melanoma antigen family B, 6							72.0	61.0	64.0					X																	26211971		2202	4300	6502	SO:0001583	missense	158809							g.chrX:26211971G>T	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.8G>T	X.37:g.26211971G>T	ENSP00000368320:p.Arg3Leu					MAGEB6_uc010ngc.1_5'UTR	p.R3L	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN			2	157	+			3					Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.8G>T	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407436	0.62399	.	.	ENSG00000176746	ENST00000379034	T	0.07114	3.22	2.55	1.67	0.24075	Melanoma associated antigen, MAGE, N-terminal (1);	0.548004	0.17599	U	0.168499	T	0.17152	0.0412	L	0.55990	1.75	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.07139	-1.0788	10	0.35671	T	0.21	.	4.6782	0.12722	0.189:0.0:0.811:0.0	.	3	Q8N7X4	MAGB6_HUMAN	L	3	ENSP00000368320:R3L	ENSP00000368320:R3L	R	+	2	0	MAGEB6	26121892	0.013000	0.17824	0.193000	0.23327	0.721000	0.41392	-0.331000	0.07914	0.491000	0.27793	0.594000	0.82650	CGG		0.572	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		16	70	1	0	3.32936e-07	0.006122	3.99033e-07	16	70				
AR	367	broad.mit.edu	37	X	66863200	66863200	+	Silent	SNP	A	A	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chrX:66863200A>T	ENST00000374690.3	+	2	2243	c.1719A>T	c.(1717-1719)ggA>ggT	p.G573G	AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Silent_p.G573G|AR_ENST00000396044.3_Silent_p.G573G|AR_ENST00000396043.2_Silent_p.G41G	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	572	Interaction with HIPK3. {ECO:0000250}.|Interaction with LPXN.		A -> D (in AIS; defective DNA binding and transactivation). {ECO:0000269|PubMed:8918984}.		androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G573G(1)|p.G383G(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	GTCACTATGGAGCTCTCACAT	0.493									Androgen Insensitivity Syndrome																														uc004dwu.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8						c.(1717-1719)GGA>GGT		androgen receptor isoform 1	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						102.0	82.0	89.0					X																	66863200		2203	4300	6503	SO:0001819	synonymous_variant	367	Androgen_Insensitivity_Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66863200A>T	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.1719A>T	X.37:g.66863200A>T						AR_uc011mpd.1_Silent_p.G573G|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Silent_p.G573G|AR_uc004dwv.1_Silent_p.G41G	p.G573G	NM_000044	NP_000035	P10275	ANDR_HUMAN			2	2834	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	572			Interaction with HIPK3 (By similarity).|NR C4-type.|Nuclear receptor.		A2RUN2|B1AKD7|Q9UD95	Silent	SNP	ENST00000374690.3	37	c.1719A>T	CCDS14387.1																																																																																				0.493	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		21	57	0	0	0	0.001523	0	21	57				
MED12	9968	broad.mit.edu	37	X	70354597	70354597	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chrX:70354597G>A	ENST00000374080.3	+	35	4794	c.4762G>A	c.(4762-4764)Gtg>Atg	p.V1588M	MED12_ENST00000333646.6_Missense_Mutation_p.V1588M|MED12_ENST00000374102.1_Missense_Mutation_p.V1588M			Q93074	MED12_HUMAN	mediator complex subunit 12	1588					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.V1588M(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CATGCTGAGCGTGCTCATCAA	0.483			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																																uc004dyy.2		NA		Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(4762-4764)GTG>ATG		mediator complex subunit 12							132.0	112.0	119.0					X																	70354597		2031	4181	6212	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70354597G>A	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.4762G>A	X.37:g.70354597G>A	ENSP00000363193:p.Val1588Met					MED12_uc011mpq.1_Missense_Mutation_p.V1588M|MED12_uc004dyz.2_Missense_Mutation_p.V1588M|MED12_uc004dza.2_Missense_Mutation_p.V1435M|MED12_uc010nla.2_Missense_Mutation_p.V214M	p.V1588M	NM_005120	NP_005111	Q93074	MED12_HUMAN			35	4961	+	Renal(35;0.156)		1588					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.4762G>A	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	-	23.5	4.420921	0.83559	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	T;T;T;T;T	0.63417	0.18;-0.04;0.18;-0.04;1.22	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.76644	0.4016	M	0.63843	1.955	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.975;0.995;0.996	T	0.79834	-0.1636	10	0.66056	D	0.02	-3.1909	16.4023	0.83644	0.0:0.0:1.0:0.0	.	1588;1435;1588;1588	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	M	1588;1588;1588;1588;1556;333	ENSP00000333125:V1588M;ENSP00000363215:V1588M;ENSP00000363193:V1588M;ENSP00000414203:V1556M;ENSP00000408388:V333M	ENSP00000333125:V1588M	V	+	1	0	MED12	70271322	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	9.255000	0.95524	2.129000	0.65627	0.529000	0.55759	GTG		0.483	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		36	137	0	0	0	0.004289	0	36	137				
ATP7A	538	broad.mit.edu	37	X	77286941	77286941	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chrX:77286941G>T	ENST00000341514.6	+	16	3310	c.3155G>T	c.(3154-3156)gGa>gTa	p.G1052V	ATP7A_ENST00000343533.5_Missense_Mutation_p.G974V|ATP7A_ENST00000350425.4_Missense_Mutation_p.G55V	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1052					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)	p.G1052V(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ATTACTCACGGAACCCCAGTG	0.378																																							uc004ecx.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(3154-3156)GGA>GTA		ATPase, Cu++ transporting, alpha polypeptide							131.0	127.0	128.0					X																	77286941		2203	4300	6503	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77286941G>T	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.3155G>T	X.37:g.77286941G>T	ENSP00000345728:p.Gly1052Val						p.G1052V	NM_000052	NP_000043	Q04656	ATP7A_HUMAN			16	3315	+			1052			Cytoplasmic (Potential).		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.3155G>T	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498545	0.85069	.	.	ENSG00000165240	ENST00000343533;ENST00000350425;ENST00000341514	D;D;D	0.97505	-4.41;-4.41;-4.41	5.39	5.39	0.77823	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.99108	0.9693	H	0.97659	4.05	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99201	1.0873	10	0.87932	D	0	0.0882	18.0914	0.89476	0.0:0.0:1.0:0.0	.	1052	Q04656	ATP7A_HUMAN	V	974;55;1052	ENSP00000343026:G974V;ENSP00000343678:G55V;ENSP00000345728:G1052V	ENSP00000345728:G1052V	G	+	2	0	ATP7A	77173597	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.813000	0.99286	2.395000	0.81488	0.506000	0.49869	GGA		0.378	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		91	197	1	0	1.78623e-52	0.00361	2.50996e-52	91	197				
GPRASP2	114928	broad.mit.edu	37	X	101969872	101969872	+	Silent	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chrX:101969872G>A	ENST00000535209.1	+	4	906	c.75G>A	c.(73-75)ggG>ggA	p.G25G	GPRASP2_ENST00000543253.1_Silent_p.G25G|GPRASP2_ENST00000332262.5_Silent_p.G25G			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	25						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)	p.G25G(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TTATCGCTGGGCCTGAGAGAG	0.542																																							uc004ejk.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(73-75)GGG>GGA		G protein-coupled receptor associated sorting							117.0	110.0	112.0					X																	101969872		2203	4300	6503	SO:0001819	synonymous_variant	114928					cytoplasm	protein binding	g.chrX:101969872G>A	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.75G>A	X.37:g.101969872G>A						GPRASP2_uc004ejl.2_Silent_p.G25G|GPRASP2_uc004ejm.2_Silent_p.G25G|GPRASP2_uc011mrp.1_5'Flank	p.G25G	NM_138437	NP_612446	Q96D09	GASP2_HUMAN			4	1409	+			25					D3DXA0|Q8NAB4	Silent	SNP	ENST00000535209.1	37	c.75G>A	CCDS14501.1																																																																																				0.542	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		46	100	0	0	0	0.002522	0	46	100				
HTR2C	3358	broad.mit.edu	37	X	113965913	113965913	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chrX:113965913G>T	ENST00000276198.1	+	4	974	c.246G>T	c.(244-246)aaG>aaT	p.K82N	HTR2C_ENST00000371950.3_Missense_Mutation_p.K82N|HTR2C_ENST00000371951.1_Missense_Mutation_p.K82N	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	82					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.K82N(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GCATGGAAAAGAAACTGCACA	0.448																																							uc004epu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(244-246)AAG>AAT		5-hydroxytryptamine (serotonin) receptor 2C	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						227.0	172.0	190.0					X																	113965913		2203	4300	6503	SO:0001583	missense	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:113965913G>T		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.246G>T	X.37:g.113965913G>T	ENSP00000276198:p.Lys82Asn					HTR2C_uc010nqc.1_Missense_Mutation_p.K82N|HTR2C_uc004epv.1_Missense_Mutation_p.K82N	p.K82N	NM_000868	NP_000859	P28335	5HT2C_HUMAN			4	974	+			82			Cytoplasmic (By similarity).		B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	c.246G>T	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798782	0.70567	.	.	ENSG00000147246	ENST00000276198;ENST00000371951;ENST00000371950	T;T;T	0.42513	0.97;0.97;0.97	5.43	5.43	0.79202	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.66519	0.2797	M	0.89287	3.02	0.54753	D	0.999981	D;D	0.89917	0.998;1.0	D;D	0.79108	0.988;0.992	T	0.71961	-0.4434	10	0.87932	D	0	.	8.8772	0.35352	0.0997:0.0:0.9003:0.0	.	82;82	B1AMW4;P28335	.;5HT2C_HUMAN	N	82	ENSP00000276198:K82N;ENSP00000361019:K82N;ENSP00000361018:K82N	ENSP00000276198:K82N	K	+	3	2	HTR2C	113872169	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.697000	0.47060	2.520000	0.84964	0.594000	0.82650	AAG		0.448	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		4	118	1	0	2.56e-06	0.000248	2.98057e-06	4	118				
SLITRK2	84631	broad.mit.edu	37	X	144904436	144904436	+	Silent	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chrX:144904436C>T	ENST00000370490.1	+	1	4748	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	SLITRK2_ENST00000413937.2_Silent_p.L165L|SLITRK2_ENST00000428560.2_Silent_p.L165L|SLITRK2_ENST00000447897.2_Silent_p.L165L|SLITRK2_ENST00000434188.2_Silent_p.L165L			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	165					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.L165L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGCTCATCCTGAATGACAA	0.502																																							uc004fcd.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(1)|pancreas(1)	7						c.(493-495)CTG>TTG		SLIT and NTRK-like family, member 2 precursor							167.0	121.0	136.0					X																	144904436		2203	4300	6503	SO:0001819	synonymous_variant	84631					integral to membrane		g.chrX:144904436C>T	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.493C>T	X.37:g.144904436C>T						SLITRK2_uc010nsp.2_Silent_p.L165L|SLITRK2_uc010nso.2_Silent_p.L165L|SLITRK2_uc011mwq.1_Silent_p.L165L|SLITRK2_uc011mwr.1_Silent_p.L165L|SLITRK2_uc011mws.1_Silent_p.L165L|SLITRK2_uc004fcg.2_Silent_p.L165L|SLITRK2_uc011mwt.1_Silent_p.L165L	p.L165L	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			5	1483	+	Acute lymphoblastic leukemia(192;6.56e-05)		165			Extracellular (Potential).|LRR 5.		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Silent	SNP	ENST00000370490.1	37	c.493C>T	CCDS14680.1																																																																																				0.502	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		45	143	0	0	0	0.003214	0	45	143				
AFF2	2334	broad.mit.edu	37	X	147924509	147924509	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chrX:147924509C>T	ENST00000370460.2	+	6	1672	c.1193C>T	c.(1192-1194)cCa>cTa	p.P398L	AFF2_ENST00000370457.5_Missense_Mutation_p.P365L|AFF2_ENST00000286437.5_Missense_Mutation_p.P39L|AFF2_ENST00000370458.1_Missense_Mutation_p.P365L|AFF2_ENST00000342251.3_Missense_Mutation_p.P365L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	398					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.P398L(2)|p.P39L(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CATCTGACCCCAGGATTCACC	0.348																																							uc004fcp.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(3)|pancreas(2)	5						c.(1192-1194)CCA>CTA		fragile X mental retardation 2							92.0	86.0	88.0					X																	147924509		2203	4299	6502	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147924509C>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1193C>T	X.37:g.147924509C>T	ENSP00000359489:p.Pro398Leu					AFF2_uc004fco.2_Missense_Mutation_p.P365L|AFF2_uc004fcq.2_Missense_Mutation_p.P394L|AFF2_uc004fcr.2_Missense_Mutation_p.P365L|AFF2_uc011mxb.1_Missense_Mutation_p.P369L|AFF2_uc004fcs.2_Missense_Mutation_p.P365L|AFF2_uc011mxc.1_Missense_Mutation_p.P39L	p.P398L	NM_002025	NP_002016	P51816	AFF2_HUMAN			6	1672	+	Acute lymphoblastic leukemia(192;6.56e-05)		398					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.1193C>T	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022170	0.75275	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458;ENST00000286437	T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07	5.74	5.74	0.90152	.	0.229244	0.38005	N	0.001852	T	0.73016	0.3533	L	0.46157	1.445	0.46749	D	0.999186	D;D;D;D;D;D;P	0.69078	0.997;0.996;0.996;0.996;0.996;0.997;0.902	D;P;P;P;P;D;P	0.63793	0.918;0.866;0.866;0.866;0.866;0.918;0.52	T	0.75428	-0.3321	10	0.87932	D	0	.	17.0505	0.86517	0.0:1.0:0.0:0.0	.	39;369;365;365;394;398;365	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;.;AFF2_HUMAN;.	L	398;365;365;365;39	ENSP00000359489:P398L;ENSP00000359486:P365L;ENSP00000345459:P365L;ENSP00000359487:P365L;ENSP00000286437:P39L	ENSP00000286437:P39L	P	+	2	0	AFF2	147732201	1.000000	0.71417	0.994000	0.49952	0.885000	0.51271	3.548000	0.53670	2.405000	0.81733	0.540000	0.68198	CCA		0.348	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		36	145	0	0	0	0.003271	0	36	145				
PLXNA3	55558	broad.mit.edu	37	X	153696766	153696766	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chrX:153696766G>A	ENST00000369682.3	+	23	4259	c.4084G>A	c.(4084-4086)Ggc>Agc	p.G1362S		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1362					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)	p.G1362S(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCGCGACCGCGGCACCGTGGC	0.667																																							uc004flm.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(4084-4086)GGC>AGC		plexin A3 precursor							31.0	30.0	31.0					X																	153696766		2200	4297	6497	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153696766G>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.4084G>A	X.37:g.153696766G>A	ENSP00000358696:p.Gly1362Ser						p.G1362S	NM_017514	NP_059984	P51805	PLXA3_HUMAN			23	4257	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1362			Cytoplasmic (Potential).		Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.4084G>A	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209675	0.58343	.	.	ENSG00000130827	ENST00000369682	T	0.10573	2.86	5.03	5.03	0.67393	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.28896	0.0717	M	0.64567	1.98	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.03103	-1.1072	10	0.18276	T	0.48	.	16.4784	0.84144	0.0:0.0:1.0:0.0	.	1362	P51805	PLXA3_HUMAN	S	1362	ENSP00000358696:G1362S	ENSP00000358696:G1362S	G	+	1	0	PLXNA3	153349960	1.000000	0.71417	0.913000	0.36048	0.695000	0.40330	9.679000	0.98649	2.234000	0.73211	0.526000	0.51066	GGC		0.667	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		6	34	0	0	0	0.001168	0	6	34				
RIT1	6016	broad.mit.edu	37	1	155874531	155874532	+	In_Frame_Ins	INS	-	-	GTATCCAAA			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr1:155874531_155874532insGTATCCAAA	ENST00000368323.3	-	4	431_432	c.227_228insTTTGGATAC	c.(226-228)aca>acTTTGGATACa	p.76_76T>TLDT	RIT1_ENST00000368322.3_In_Frame_Ins_p.93_93T>TLDT|RIT1_ENST00000539040.1_In_Frame_Ins_p.40_40T>TLDT	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	76					GTP catabolic process (GO:0006184)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			CCTGTCCAGCTGTATCCAAAAT	0.401																																							uc001fmh.1		NA																	0				breast(1)	1						c.(226-228)ACA>ACTTTGGATACA		Ras-like without CAAX 1																																				SO:0001652	inframe_insertion	6016				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr1:155874531_155874532insGTATCCAAA	AF084462	CCDS1123.1, CCDS58037.1, CCDS58036.1	1q21.2	2014-05-09	2002-09-11	2002-09-13	ENSG00000143622	ENSG00000143622			10023	protein-coding gene	gene with protein product	"""Ric-like, expressed in many tissues"", ""GTP-binding protein Roc1"""	609591	"""Ric (Drosophila)-like, expressed in many tissues"""	RIT		8824319, 8918462	Standard	NM_006912		Approved	RIBB, ROC1, MGC125864, MGC125865	uc031pqc.1	Q92963	OTTHUMG00000014104	ENST00000368323.3:c.219_227dupTTTGGATAC	1.37:g.155874532_155874540dupGTATCCAAA	ENSP00000357306:p.LeuAspThr76dup					RIT1_uc010pgr.1_In_Frame_Ins_p.40_40T>TLDT	p.76_76T>TLDT	NM_006912	NP_008843	Q92963	RIT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)		4	414_415	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		76			GTP (By similarity).		B4DQE8|O00646|O00720|Q5VY89|Q5VY90	In_Frame_Ins	INS	ENST00000368323.3	37	c.227_228insTTTGGATAC	CCDS1123.1																																																																																				0.401	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039593.1	NM_006912		14	76	NA	NA	NA	NA	NA	14	76	---	---	---	---
RUFY2	55680	broad.mit.edu	37	10	70156583	70156583	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr10:70156583delT	ENST00000602465.1	-	4	452	c.352delA	c.(352-354)atgfs	p.M118fs	RUFY2_ENST00000454950.2_Frame_Shift_Del_p.M60fs|RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000342616.4_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000388768.2_Frame_Shift_Del_p.M153fs			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	167	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TAATCGGCCATTTTTTTTTGC	0.398																																							uc001job.2		NA																	0				ovary(1)	1						c.(457-459)ATGfs		RUN and FYVE domain-containing 2 isoform a							81.0	80.0	81.0					10																	70156583		1832	4087	5919	SO:0001589	frameshift_variant	55680					nucleus	metal ion binding	g.chr10:70156583delT	AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.352delA	10.37:g.70156583delT	ENSP00000473462:p.Met118fs					RUFY2_uc001jnz.1_RNA|RUFY2_uc001joc.2_Intron|RUFY2_uc010qiw.1_Frame_Shift_Del_p.M60fs|RUFY2_uc001jod.1_Frame_Shift_Del_p.M118fs|RUFY2_uc009xpv.1_Frame_Shift_Del_p.M1fs|RUFY2_uc001joe.1_Frame_Shift_Del_p.M118fs	p.M153fs	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN			4	784	-			167			RUN.		B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Frame_Shift_Del	DEL	ENST00000602465.1	37	c.457delA																																																																																					0.398	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1	NM_017987		8	86	NA	NA	NA	NA	NA	8	86	---	---	---	---
Unknown	0	broad.mit.edu	37	10	135491036	135491036	+	IGR	DEL	G	G	-			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr10:135491036delG								AL845259.1 (17857 upstream) : None (None downstream)																							CAGGGTGGCAGGGCGCCCGCG	0.736																																							uc010qvi.1		NA																	0					0						c.(646-648)AGGfs		double homeobox, 4-like							26.0	33.0	31.0					10																	135491036		1092	2189	3281	SO:0001628	intergenic_variant	653544					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:135491036delG																													10.37:g.135491036delG							p.R216fs	NM_001127389	NP_001120861	F5GZ66	F5GZ66_HUMAN			1	758	+			216						Frame_Shift_Del	DEL		37	c.647delG																																																																																				0	0.736									7	269	NA	NA	NA	NA	NA	7	269	---	---	---	---
ZDHHC13	54503	broad.mit.edu	37	11	19184974	19184974	+	Splice_Site	DEL	G	G	-			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr11:19184974delG	ENST00000446113.2	+	11	1354	c.1233delG	c.(1231-1233)gtg>gt	p.V411fs	ZDHHC13_ENST00000399351.3_Splice_Site_p.V281fs	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	411					metabolic process (GO:0008152)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						AAAAGAAAGTGGTGAGATTTC	0.358																																							uc001mpi.2		NA																	0					0						c.(1231-1233)GTGfs		zinc finger, DHHC domain containing 13 isoform							44.0	41.0	42.0					11																	19184974		1796	4069	5865	SO:0001630	splice_region_variant	54503				positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding	g.chr11:19184974delG	AB024495	CCDS44550.1, CCDS44551.1	11p15.1	2013-01-10			ENSG00000177054	ENSG00000177054		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18413	protein-coding gene	gene with protein product		612815				18794299	Standard	NM_001001483		Approved	FLJ10852, FLJ10941, HIP14L	uc001mpi.3	Q8IUH4	OTTHUMG00000166099	ENST00000446113.2:c.1233+1G>-	11.37:g.19184974delG						ZDHHC13_uc001mpj.2_Frame_Shift_Del_p.V281fs	p.V411fs	NM_019028	NP_061901	Q8IUH4	ZDH13_HUMAN			11	1338	+			411					Q7Z2D3|Q86VK2|Q9NV30|Q9NV99	Frame_Shift_Del	DEL	ENST00000446113.2	37	c.1233delG	CCDS44550.1																																																																																				0.358	ZDHHC13-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387821.1	NM_019028	Frame_Shift_Del	15	31	NA	NA	NA	NA	NA	15	31	---	---	---	---
CHEK1	1111	broad.mit.edu	37	11	125505377	125505378	+	Frame_Shift_Ins	INS	-	-	A	rs35817404		TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr11:125505377_125505378insA	ENST00000534070.1	+	7	922_923	c.667_668insA	c.(667-669)gaafs	p.E223fs	CHEK1_ENST00000427383.2_Frame_Shift_Ins_p.E239fs|CHEK1_ENST00000544373.1_Frame_Shift_Ins_p.E223fs|CHEK1_ENST00000438015.1_Frame_Shift_Ins_p.E223fs|CHEK1_ENST00000428830.2_Frame_Shift_Ins_p.E223fs|CHEK1_ENST00000524737.1_Frame_Shift_Ins_p.E223fs|CHEK1_ENST00000278916.3_Frame_Shift_Ins_p.E223fs|CHEK1_ENST00000532449.1_3'UTR	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	223	Interaction with CLSPN. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		E -> V (in dbSNP:rs35817404). {ECO:0000269|PubMed:17344846}.		cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TGACTGGAAAGAAAAAAAAACA	0.361								Other conserved DNA damage response genes																															uc009zbo.2		NA																	0				central_nervous_system(3)|lung(2)|skin(1)	6						c.(667-669)GAAfs	Other_conserved_DNA_damage_response_genes	checkpoint kinase 1																																				SO:0001589	frameshift_variant	1111				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr11:125505377_125505378insA	AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"""CHK1 (checkpoint, S.pombe) homolog"", ""CHK1 checkpoint homolog (S. pombe)"""			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.676dupA	11.37:g.125505386_125505386dupA	ENSP00000435371:p.Glu223fs					CHEK1_uc010sbh.1_Frame_Shift_Ins_p.E239fs|CHEK1_uc010sbi.1_Frame_Shift_Ins_p.E223fs|CHEK1_uc001qcf.3_Frame_Shift_Ins_p.E223fs|CHEK1_uc009zbp.2_Frame_Shift_Ins_p.E223fs|CHEK1_uc001qcg.3_Frame_Shift_Ins_p.E223fs|CHEK1_uc009zbq.2_Frame_Shift_Ins_p.E223fs|CHEK1_uc001qci.1_RNA	p.E223fs	NM_001114122	NP_001107594	O14757	CHK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)	7	1559_1560	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	223			Protein kinase.		A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	Frame_Shift_Ins	INS	ENST00000534070.1	37	c.667_668insA	CCDS8459.1																																																																																				0.361	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386714.1	NM_001274		7	134	NA	NA	NA	NA	NA	7	134	---	---	---	---
OVOS2	144203	broad.mit.edu	37	12	31270080	31270081	+	RNA	INS	-	-	AAA	rs397963443|rs59046327	byFrequency	TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr12:31270080_31270081insAAA	ENST00000542490.1	-	0	52																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CGTTAAACTGGATCTCACTGGA	0.505														2879	0.57488	0.6324	0.5231	5008	,	,		14258	0.8194		0.3777	False		,,,				2504	0.4847						uc010sjy.1		NA																	0					NA						c.(3787-3789)ATC>ATTTTC		RecName: Full=Ovostatin homolog 1; Flags: Precursor;				1674,1746		681,312,717						1.6	0.3		dbSNP_129	59	2013,5685		627,759,2463	no	coding	OVOS2	XM_002343151.2		1308,1071,3180	A1A1,A1R,RR		26.1496,48.9474,33.1624				3687,7431						0							g.chr12:31270080_31270081insAAA																													12.37:g.31270080_31270081insAAA						uc001rjy.2_Intron|uc001rjz.2_Intron	p.1263_1264insF							28	3788_3789	-									In_Frame_Ins	INS	ENST00000542490.1	37	c.3788_3789insTTT																																																																																					0.505	RP11-551L14.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400342.1			8	20	NA	NA	NA	NA	NA	8	20	---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88328297	88328297	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr13:88328297delG	ENST00000325089.6	+	2	873	c.654delG	c.(652-654)gtgfs	p.V218fs	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	218					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TGCCCTACGTGGGGCTCTTGC	0.483																																							uc001vln.2		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(652-654)GTGfs		SLIT and NTRK-like family, member 5 precursor							68.0	72.0	71.0					13																	88328297		2203	4300	6503	SO:0001589	frameshift_variant	26050					integral to membrane		g.chr13:88328297delG	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.654delG	13.37:g.88328297delG	ENSP00000366283:p.Val218fs					SLITRK5_uc010tic.1_Intron	p.V218fs	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	873	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		218			Extracellular (Potential).|LRR 6.		B3KNB8|B4DSH5|Q5VT81	Frame_Shift_Del	DEL	ENST00000325089.6	37	c.654delG	CCDS9465.1																																																																																				0.483	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			36	58	NA	NA	NA	NA	NA	36	58	---	---	---	---
JPH4	84502	broad.mit.edu	37	14	24040435	24040436	+	Frame_Shift_Ins	INS	-	-	C	rs144738828		TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr14:24040435_24040436insC	ENST00000397118.3	-	6	2406_2407	c.1504_1505insG	c.(1504-1506)gcafs	p.A502fs	JPH4_ENST00000356300.4_Frame_Shift_Ins_p.A502fs|JPH4_ENST00000544177.1_Frame_Shift_Ins_p.A167fs	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	502					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)		p.A502fs*12(2)|p.A502fs*8(1)		endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CTGTGCGCCTGCCCCCCCCCAC	0.688																																							uc001wkq.2		NA																	3	Insertion - Frameshift(2)|Deletion - Frameshift(1)	p.A502fs*12(1)	ovary(1)|lung(1)|pancreas(1)	ovary(1)|pancreas(1)	2						c.(1504-1506)GCAfs		junctophilin 4																																				SO:0001589	frameshift_variant	84502				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		g.chr14:24040435_24040436insC	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1505dupG	14.37:g.24040444_24040444dupC	ENSP00000380307:p.Ala502fs					JPH4_uc010tnr.1_Frame_Shift_Ins_p.A167fs|JPH4_uc001wkr.2_Frame_Shift_Ins_p.A502fs	p.A502fs	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	6	2422_2423	-	all_cancers(95;0.000251)		502			Cytoplasmic (Potential).		D3DS53|Q8ND44|Q96DQ0	Frame_Shift_Ins	INS	ENST00000397118.3	37	c.1504_1505insG	CCDS9603.1																																																																																				0.688	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452		8	179	NA	NA	NA	NA	NA	8	179	---	---	---	---
KLHL41	10324	broad.mit.edu	37	2	170366496	170366496	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr2:170366496delA	ENST00000284669.1	+	1	285	c.208delA	c.(208-210)aaafs	p.K72fs	RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	72	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											TGATGAGGCGAAAAAAAAGGA	0.388																																							uc002ueu.1		NA																	0					0						c.(208-210)AAAfs		kelch repeat and BTB (POZ) domain containing 10							145.0	144.0	145.0					2																	170366496		2203	4300	6503	SO:0001589	frameshift_variant	10324				striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle		g.chr2:170366496delA	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.208delA	2.37:g.170366496delA	ENSP00000284669:p.Lys72fs					KBTBD10_uc010zdh.1_Intron	p.K70fs	NM_006063	NP_006054	O60662	KBTBA_HUMAN			1	285	+			70			BTB.		Q53R42	Frame_Shift_Del	DEL	ENST00000284669.1	37	c.208delA	CCDS2234.1																																																																																				0.388	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063		8	135	NA	NA	NA	NA	NA	8	135	---	---	---	---
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs376362448|rs2622736	byFrequency	TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394																																							uc003erv.2		NA																	0					0						c.(1621-1626)GATGAT>GAT		debranching enzyme homolog 1																																				SO:0001651	inframe_deletion	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137880741_137880743delTCG	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1623_1625delCGA	3.37:g.137880741_137880743delTCG	ENSP00000260803:p.Asp542del					DBR1_uc003eru.2_In_Frame_Del_p.490_491DD>D|DBR1_uc003ert.2_In_Frame_Del_p.309_310DD>D	p.541_542DD>D	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN			8	1759_1761	-			541_542					Q96GH0|Q9NXQ6	In_Frame_Del	DEL	ENST00000260803.4	37	c.1623_1625delCGA	CCDS33863.1																																																																																				0.394	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			7	105	NA	NA	NA	NA	NA	7	105	---	---	---	---
ATR	545	broad.mit.edu	37	3	142274739	142274740	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr3:142274739_142274740insT	ENST00000350721.4	-	10	2441_2442	c.2320_2321insA	c.(2320-2322)atafs	p.I774fs	ATR_ENST00000383101.3_Frame_Shift_Ins_p.I710fs	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	774					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.I774fs*5(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGGACTAGGTATTTTTTTTTTC	0.332								Other conserved DNA damage response genes																															uc003eux.3		NA																	1	Deletion - Frameshift(1)		breast(1)	lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(2320-2322)ATAfs	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein																																				SO:0001589	frameshift_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142274739_142274740insT	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.2321dupA	3.37:g.142274749_142274749dupT	ENSP00000343741:p.Ile774fs						p.I774fs	NM_001184	NP_001175	Q13535	ATR_HUMAN			10	2442_2443	-			774					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Frame_Shift_Ins	INS	ENST00000350721.4	37	c.2320_2321insA	CCDS3124.1																																																																																				0.332	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		10	128	NA	NA	NA	NA	NA	10	128	---	---	---	---
UGDH	7358	broad.mit.edu	37	4	39515752	39515753	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr4:39515752_39515753insA	ENST00000316423.6	-	3	556_557	c.214_215insT	c.(214-216)tctfs	p.S72fs	UGDH_ENST00000501493.2_Frame_Shift_Ins_p.S72fs|UGDH_ENST00000515398.1_5'UTR|UGDH_ENST00000506179.1_Frame_Shift_Ins_p.S72fs|UGDH_ENST00000507089.1_5'UTR	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	72					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)	p.S72fs*18(1)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						AATATTGGTAGAAAAAAAAAGA	0.297																																							uc003guk.1		NA																	1	Deletion - Frameshift(1)		large_intestine(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(214-216)TCTfs		UDP-glucose dehydrogenase	NADH(DB00157)																																			SO:0001589	frameshift_variant	7358				glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	g.chr4:39515752_39515753insA	AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"""UDP-glucose dehydrogenase"""			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.215dupT	4.37:g.39515761_39515761dupA	ENSP00000319501:p.Ser72fs					UGDH_uc011byp.1_5'UTR|UGDH_uc003gul.1_Frame_Shift_Ins_p.S72fs	p.S72fs	NM_003359	NP_003350	O60701	UGDH_HUMAN			3	530_531	-			72					B3KUU2|B4DN25|O60589	Frame_Shift_Ins	INS	ENST00000316423.6	37	c.214_215insT	CCDS3455.1																																																																																				0.297	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3	NM_003359		8	196	NA	NA	NA	NA	NA	8	196	---	---	---	---
HLA-F	3134	broad.mit.edu	37	6	29694802	29694803	+	IGR	INS	-	-	T	rs17875385		TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr6:29694802_29694803insT	ENST00000376861.1	+	0	1544				HLA-F_ENST00000440587.2_Intron|HLA-F_ENST00000259951.7_Frame_Shift_Ins_p.F394fs|HLA-F_ENST00000475996.1_Intron			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TGTGGATCTTGTTTTTTTTGTG	0.535																																							uc003nno.3		NA																	0					0						c.(1177-1182)TTGTTTfs		major histocompatibility complex, class I, F				16,3332		2,12,1660						-0.3	0.3		dbSNP_124	229	17,6555		4,9,3273	no	frameshift	HLA-F	NM_001098479.1		6,21,4933	A1A1,A1R,RR		0.2587,0.4779,0.3327				33,9887				SO:0001628	intergenic_variant	3134				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29694802_29694803insT	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156		6.37:g.29694810_29694810dupT						HLA-F_uc011dlx.1_Intron|HLA-F_uc011dly.1_Intron|LOC285830_uc003nnp.2_RNA|LOC285830_uc011dlz.1_RNA	p.L393fs	NM_001098479	NP_001091949	P30511	HLAF_HUMAN			7	1303_1304	+			Error:Variant_position_missing_in_P30511_after_alignment					Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Frame_Shift_Ins	INS	ENST00000376861.1	37	c.1179_1180insT	CCDS43438.1																																																																																				0.535	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950		10	346	NA	NA	NA	NA	NA	10	346	---	---	---	---
ABCF1	23	broad.mit.edu	37	6	30545854	30545854	+	Splice_Site	DEL	A	A	-	rs555740367		TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr6:30545854delA	ENST00000326195.8	+	4	330	c.218delA	c.(217-219)caa>ca	p.Q73fs	ABCF1_ENST00000376545.3_Splice_Site_p.Q73fs|ABCF1_ENST00000396515.4_Splice_Site_p.Q73fs	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	73					inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TCTCAGCAGCAAAAAAAAAAG	0.493																																							uc003nql.2		NA																	0				ovary(2)	2						c.(217-219)CAAfs		ATP-binding cassette, sub-family F, member 1			,	66,405,3793		0,0,66,1,403,1662	64.0	70.0	68.0		,	5.5	1.0	6		71	105,634,7515		0,1,104,0,633,3389	no	codingComplex-near-splice,codingComplex-near-splice	ABCF1	NM_001090.2,NM_001025091.1	,	0,1,170,1,1036,5051	A1A1,A1A2,A1R,A2A2,A2R,RR		8.9532,11.046,9.6661	,	,	30545854	171,1039,11308	2203	4300	6503	SO:0001630	splice_region_variant	23				inflammatory response|translational initiation	nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome	ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	g.chr6:30545854delA	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.217-1A>-	6.37:g.30545854delA						ABCF1_uc003nqk.2_Frame_Shift_Del_p.Q74fs|ABCF1_uc003nqm.2_Frame_Shift_Del_p.Q73fs|ABCF1_uc010jsb.2_Frame_Shift_Del_p.Q73fs	p.Q73fs	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN			4	313	+			73					A2BF75|O14897|Q69YP6	Frame_Shift_Del	DEL	ENST00000326195.8	37	c.218delA	CCDS34380.1																																																																																				0.493	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3		Frame_Shift_Del	10	82	NA	NA	NA	NA	NA	10	82	---	---	---	---
KCND2	3751	broad.mit.edu	37	7	120385968	120385969	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chr7:120385968_120385969insA	ENST00000331113.4	+	5	2567_2568	c.1602_1603insA	c.(1603-1605)aaafs	p.K535fs	RP4-797C5.2_ENST00000450480.1_RNA	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	535					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CACGACGACACAAAAAAACTTT	0.45																																							uc003vjj.1		NA																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1600-1605)CACAAAfs		potassium voltage-gated channel, Shal-related																																				SO:0001589	frameshift_variant	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:120385968_120385969insA	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1609dupA	7.37:g.120385975_120385975dupA	ENSP00000333496:p.Lys535fs						p.H534fs	NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN			5	2567_2568	+	all_neural(327;0.117)		534_535			Cytoplasmic (Potential).		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Frame_Shift_Ins	INS	ENST00000331113.4	37	c.1602_1603insA	CCDS5776.1																																																																																				0.450	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		11	119	NA	NA	NA	NA	NA	11	119	---	---	---	---
ARMCX3	51566	broad.mit.edu	37	X	100880216	100880216	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6779-01A-11D-1855-08	TCGA-44-6779-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6990a90-6a99-490b-a476-5298f0c4e4f2	84e9ba6c-a60a-48df-8176-1a06bda173f0	g.chrX:100880216delG	ENST00000341189.4	+	5	1113	c.247delG	c.(247-249)gggfs	p.G83fs	ARMCX3-AS1_ENST00000454228.1_RNA|RP4-545K15.5_ENST00000564612.1_RNA|ARMCX3_ENST00000537169.1_Frame_Shift_Del_p.G83fs|ARMCX3_ENST00000471229.2_Frame_Shift_Del_p.G83fs	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	83					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						GGCTCGGATTGGGACTGAAGC	0.562																																							uc004ehz.1		NA																	0				ovary(1)|lung(1)	2						c.(247-249)GGGfs		armadillo repeat containing, X-linked 3							83.0	81.0	82.0					X																	100880216		2203	4300	6503	SO:0001589	frameshift_variant	51566					integral to membrane	binding	g.chrX:100880216delG	AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"""Armadillo repeat containing"""	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.247delG	X.37:g.100880216delG	ENSP00000340672:p.Gly83fs					ARMCX3_uc004eia.1_Frame_Shift_Del_p.G83fs|ARMCX3_uc004eib.1_Frame_Shift_Del_p.G83fs|ARMCX3_uc004eic.1_Frame_Shift_Del_p.G83fs	p.G83fs	NM_016607	NP_057691	Q9UH62	ARMX3_HUMAN			5	780	+			83					Q53HC6|Q7LCF5|Q9NPE4	Frame_Shift_Del	DEL	ENST00000341189.4	37	c.247delG	CCDS14489.1																																																																																				0.562	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057568.2	NM_016607		25	157	NA	NA	NA	NA	NA	25	157	---	---	---	---
