#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	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_tumor_sample
KIAA0319L	79932	broad.mit.edu	37	1	35919962	35919962	+	Splice_Site	SNP	C	C	G			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr1:35919962C>G	ENST00000325722.3	-	11	2015		c.e11+1		KIAA0319L_ENST00000373266.4_Splice_Site|KIAA0319L_ENST00000485551.1_Splice_Site	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like							cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.?(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGGAGCTTACCAGGTTGCAC	0.498																																						uc001byx.2		NaN																	2	Unknown(2)		urinary_tract(2)	skin(2)	2						c.e11+1		dyslexia susceptibility 2-like							177.0	145.0	156.0					1																	35919962		2203	4300	6503	SO:0001630	splice_region_variant	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35919962C>G	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.1780+1G>C	1.37:g.35919962C>G						KIAA0319L_uc001byw.2_Splice_Site_p.E31_splice|KIAA0319L_uc010ohv.1_Splice_Site_p.E236_splice	p.E594_splice	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN			11	2038	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)						B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Splice_Site	SNP	ENST00000325722.3	37	c.1780_splice	CCDS390.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576376	0.86645	.	.	ENSG00000142687	ENST00000325722;ENST00000373266;ENST00000426982;ENST00000440579	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4101	0.94667	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA0319L	35692549	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	2.832000	0.97577	0.655000	0.94253	.		0.498	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2		NM_024874	Intron	16	96	0	0	0	0.043863	0	16	96		
GBP7	388646	broad.mit.edu	37	1	89637586	89637586	+	Silent	SNP	C	C	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr1:89637586C>A	ENST00000294671.2	-	2	171	c.33G>T	c.(31-33)gtG>gtT	p.V11V		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	11	GTPase domain (Globular). {ECO:0000250}.					membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.V11V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		CAGTGAGGCACACTGGGCCTG	0.483																																						uc001dna.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(31-33)GTG>GTT		guanylate binding protein 4-like							133.0	130.0	131.0					1																	89637586		2203	4300	6503	SO:0001819	synonymous_variant	388646					integral to membrane	GTP binding|GTPase activity	g.chr1:89637586C>A	AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.33G>T	1.37:g.89637586C>A							p.V11V	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN		all cancers(265;0.00835)|Epithelial(280;0.0322)	2	172	-		Lung NSC(277;0.0908)	11						Silent	SNP	ENST00000294671.2	37	c.33G>T	CCDS720.1																																																																																				0.483	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1		NM_207398		8	191	1	0	0.000274275	0.047766	0.000287547	8	191		
AMY2B	280	broad.mit.edu	37	1	104117881	104117881	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr1:104117881C>A	ENST00000361355.4	+	8	1531	c.915C>A	c.(913-915)gaC>gaA	p.D305E	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	305					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)	p.D305E(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TGCCTTCTGACAGAGCACTTG	0.413																																						uc001duq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(913-915)GAC>GAA		amylase, pancreatic, alpha-2B precursor							284.0	283.0	284.0					1																	104117881		2203	4298	6501	SO:0001583	missense	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104117881C>A	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.915C>A	1.37:g.104117881C>A	ENSP00000354610:p.Asp305Glu					AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.D305E|AMY2B_uc001dus.1_5'Flank	p.D305E	NM_020978	NP_066188	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	8	1531	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	305					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	c.915C>A	CCDS782.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688237	0.48097	.	.	ENSG00000240038	ENST00000361355	D	0.98234	-4.81	5.26	3.4	0.38934	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.158967	0.56097	D	0.000039	D	0.93703	0.7988	L	0.48642	1.525	0.51233	D	0.999911	B	0.18610	0.029	B	0.21546	0.035	D	0.89862	0.4017	10	0.33141	T	0.24	.	11.6556	0.51315	0.0:0.8551:0.0:0.1449	.	305	P19961	AMY2B_HUMAN	E	305	ENSP00000354610:D305E	ENSP00000354610:D305E	D	+	3	2	AMY2B	103919404	0.979000	0.34478	1.000000	0.80357	0.993000	0.82548	0.261000	0.18442	0.613000	0.30089	0.558000	0.71614	GAC		0.413	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1		NM_020978		116	233	1	0	3.79751e-50	0.048971	4.57108e-50	116	233		
LRIF1	55791	broad.mit.edu	37	1	111495013	111495013	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr1:111495013C>T	ENST00000369763.4	-	2	883	c.493G>A	c.(493-495)Gtt>Att	p.V165I	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	165					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)		p.V165I(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TGGGTATTAACTACAATAAAA	0.418																																						uc001eaa.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(493-495)GTT>ATT		receptor-interacting factor 1 isoform 1							62.0	64.0	63.0					1																	111495013		2203	4300	6503	SO:0001583	missense	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111495013C>T	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.493G>A	1.37:g.111495013C>T	ENSP00000358778:p.Val165Ile					C1orf103_uc001dzz.2_Intron|C1orf103_uc001eab.2_Intron|C1orf103_uc001eac.1_Intron	p.V165I	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)	2	749	-		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)	165					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	ENST00000369763.4	37	c.493G>A	CCDS30800.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.851641	0.32699	.	.	ENSG00000121931	ENST00000369763	T	0.25579	1.79	5.08	3.13	0.36017	.	0.360973	0.25792	N	0.028270	T	0.09113	0.0225	L	0.27053	0.805	0.80722	D	1	P	0.49961	0.93	B	0.41988	0.372	T	0.06162	-1.0842	10	0.39692	T	0.17	-0.0308	12.3123	0.54935	0.304:0.696:0.0:0.0	.	165	Q5T3J3	LRIF1_HUMAN	I	165	ENSP00000358778:V165I	ENSP00000358778:V165I	V	-	1	0	LRIF1	111296536	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	1.087000	0.30865	0.596000	0.29794	0.467000	0.42956	GTT		0.418	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2		NM_018372		10	66	0	0	0	0.069234	0	10	66		
RSBN1	54665	broad.mit.edu	37	1	114308928	114308928	+	Silent	SNP	A	A	G			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr1:114308928A>G	ENST00000261441.5	-	7	2146	c.2083T>C	c.(2083-2085)Tta>Cta	p.L695L	RSBN1_ENST00000369581.2_5'UTR	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	695						nucleus (GO:0005634)		p.L695L(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCCAGGCTAAGCTGCACACC	0.428																																						uc001edq.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(2083-2085)TTA>CTA		round spermatid basic protein 1							144.0	132.0	136.0					1																	114308928		2203	4300	6503	SO:0001819	synonymous_variant	54665					nucleus		g.chr1:114308928A>G	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.2083T>C	1.37:g.114308928A>G						RSBN1_uc001edr.2_RNA	p.L695L	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	7	2119	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	695					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Silent	SNP	ENST00000261441.5	37	c.2083T>C	CCDS862.1																																																																																				0.428	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2		NM_018364		15	131	0	0	0	0.020292	0	15	131		
HMCN1	83872	broad.mit.edu	37	1	186143685	186143685	+	Missense_Mutation	SNP	A	A	G	rs568752943		TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr1:186143685A>G	ENST00000271588.4	+	103	16083	c.15854A>G	c.(15853-15855)tAt>tGt	p.Y5285C	HMCN1_ENST00000367492.2_Missense_Mutation_p.Y5285C|GS1-174L6.4_ENST00000428391.1_RNA	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5285	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.Y5285C(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGTGCAGATATAACCAGATA	0.408													A|||	1	0.000199681	0.0	0.0	5008	,	,		21649	0.0		0.0	False		,,,				2504	0.001					uc001grq.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(22)|skin(1)	23						c.(15853-15855)TAT>TGT		hemicentin 1 precursor							159.0	136.0	143.0					1																	186143685		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186143685A>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.15854A>G	1.37:g.186143685A>G	ENSP00000271588:p.Tyr5285Cys					HMCN1_uc001grs.1_Missense_Mutation_p.Y854C	p.Y5285C	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			103	16083	+			5285			EGF-like 5; calcium-binding (Potential).		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.15854A>G	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.393350	0.83011	.	.	ENSG00000143341	ENST00000271588;ENST00000367492;ENST00000414277	D;D;D	0.91996	-2.95;-2.95;-2.24	5.7	5.7	0.88788	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.055394	0.85682	D	0.000000	D	0.92163	0.7515	N	0.17248	0.465	0.58432	D	0.999997	D	0.76494	0.999	D	0.81914	0.995	D	0.92488	0.5998	10	0.39692	T	0.17	.	15.9579	0.79902	1.0:0.0:0.0:0.0	.	5285	Q96RW7	HMCN1_HUMAN	C	5285;5285;77	ENSP00000271588:Y5285C;ENSP00000356462:Y5285C;ENSP00000406205:Y77C	ENSP00000271588:Y5285C	Y	+	2	0	HMCN1	184410308	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.361000	0.79497	2.178000	0.69098	0.533000	0.62120	TAT		0.408	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1		NM_031935		11	66	0	0	0	0.09319	0	11	66		
OBSCN	84033	broad.mit.edu	37	1	228444535	228444535	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr1:228444535G>A	ENST00000422127.1	+	15	4537	c.4493G>A	c.(4492-4494)aGg>aAg	p.R1498K	OBSCN_ENST00000570156.2_Missense_Mutation_p.R1590K|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R1498K|OBSCN_ENST00000359599.6_Missense_Mutation_p.R62K|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1498	Ig-like 15.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.R1498K(4)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCACACGGAGGCTGGTGGTG	0.672																																						uc009xez.1		NaN																	4	Substitution - Missense(4)		urinary_tract(4)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(4492-4494)AGG>AAG		obscurin, cytoskeletal calmodulin and							47.0	51.0	50.0					1																	228444535		2063	4187	6250	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228444535G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4493G>A	1.37:g.228444535G>A	ENSP00000409493:p.Arg1498Lys					OBSCN_uc001hsn.2_Missense_Mutation_p.R1498K	p.R1498K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			15	4537	+		Prostate(94;0.0405)	1498			Ig-like 15.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.4493G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	4.204	0.036525	0.08148	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.66460	-0.21;-0.21;-0.21	4.6	-0.195	0.13236	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.322422	0.26062	N	0.026570	T	0.46580	0.1400	L	0.37897	1.145	0.54753	D	0.999987	P;P	0.44690	0.483;0.841	B;B	0.40199	0.322;0.311	T	0.52653	-0.8547	10	0.05833	T	0.94	.	9.6963	0.40158	0.4594:0.0:0.5406:0.0	.	1498;1498	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	K	1498;1498;62	ENSP00000284548:R1498K;ENSP00000409493:R1498K;ENSP00000352613:R62K	ENSP00000284548:R1498K	R	+	2	0	OBSCN	226511158	0.096000	0.21769	0.650000	0.29550	0.422000	0.31414	0.484000	0.22308	0.062000	0.16340	0.491000	0.48974	AGG		0.672	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_052843		4	45	0	0	0	0.009096	0	4	45		
AKT3	10000	broad.mit.edu	37	1	243668581	243668581	+	Silent	SNP	T	T	C			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr1:243668581T>C	ENST00000366539.1	-	14	1610	c.1410A>G	c.(1408-1410)caA>caG	p.Q470Q	AKT3_ENST00000366540.1_Intron|AKT3_ENST00000336199.5_Intron|AKT3_ENST00000263826.5_Silent_p.Q470Q			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	470	AGC-kinase C-terminal.				mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Q470Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			AGTAGGAAAATTGAGGGAAAT	0.398																																						uc001iab.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	stomach(1)|lung(1)|breast(1)|central_nervous_system(1)	4						c.(1408-1410)CAA>CAG		AKT3 kinase isoform 1							111.0	107.0	109.0					1																	243668581		2203	4300	6503	SO:0001819	synonymous_variant	10000				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:243668581T>C	AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	393	protein-coding gene	gene with protein product	"""protein kinase B, gamma"""	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:c.1410A>G	1.37:g.243668581T>C						AKT3_uc001hzz.1_Intron|AKT3_uc001iaa.2_5'Flank	p.Q470Q	NM_005465	NP_005456	Q9Y243	AKT3_HUMAN	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)		13	1491	-	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	470			AGC-kinase C-terminal.		Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Silent	SNP	ENST00000366539.1	37	c.1410A>G	CCDS31077.1																																																																																				0.398	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096479.1		NM_181690		23	21	0	0	0	0.069288	0	23	21		
USP35	57558	broad.mit.edu	37	11	77924751	77924751	+	Silent	SNP	G	G	T	rs370959438		TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr11:77924751G>T	ENST00000529308.1	+	11	3210	c.2949G>T	c.(2947-2949)ccG>ccT	p.P983P	USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Silent_p.P714P|USP35_ENST00000441408.2_Silent_p.P569P|USP35_ENST00000530267.1_Silent_p.P551P	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	983					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.P983P(1)|p.P739P(1)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CCACATCTCCGCACTGGGGGA	0.577																																						uc009yva.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	lung(2)|ovary(1)	3						c.(2947-2949)CCG>CCT		ubiquitin specific protease 35							54.0	55.0	55.0					11																	77924751		1960	4133	6093	SO:0001819	synonymous_variant	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77924751G>T	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.2949G>T	11.37:g.77924751G>T						USP35_uc001ozc.2_Silent_p.P551P|USP35_uc010rsp.1_Silent_p.P415P|USP35_uc001ozd.2_Silent_p.P594P|USP35_uc001ozf.2_Silent_p.P714P	p.P983P	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		11	3195	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		983						Silent	SNP	ENST00000529308.1	37	c.2949G>T	CCDS41693.1																																																																																				0.577	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1		XM_290527		25	126	1	0	1.10923e-09	0.076483	1.2875e-09	25	126		
RASSF8	11228	broad.mit.edu	37	12	26217667	26217667	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr12:26217667C>A	ENST00000405154.2	+	3	539	c.340C>A	c.(340-342)Cct>Act	p.P114T	RASSF8_ENST00000542865.1_Missense_Mutation_p.P114T|RASSF8_ENST00000282884.9_Missense_Mutation_p.P114T|RASSF8_ENST00000381352.3_Missense_Mutation_p.P114T|RASSF8_ENST00000541490.1_Missense_Mutation_p.P114T	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	114					signal transduction (GO:0007165)			p.P114T(2)		cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					TAAACTGAGGCCTCAGATTGA	0.458																																						uc001rgx.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(340-342)CCT>ACT		Ras association (RalGDS/AF-6) domain family							76.0	81.0	79.0					12																	26217667		2203	4300	6503	SO:0001583	missense	11228				signal transduction			g.chr12:26217667C>A	U82396	CCDS8705.1, CCDS53765.1	12p12.3	2013-05-30	2008-02-22	2005-09-14	ENSG00000123094	ENSG00000123094			13232	protein-coding gene	gene with protein product		608231	"""chromosome 12 open reading frame 2"""	C12orf2			Standard	NM_007211		Approved	HoJ-1	uc001rgx.3	Q8NHQ8	OTTHUMG00000169087	ENST00000405154.2:c.340C>A	12.37:g.26217667C>A	ENSP00000384491:p.Pro114Thr					RASSF8_uc001rgy.2_Missense_Mutation_p.P114T|RASSF8_uc001rgz.2_Missense_Mutation_p.P114T|RASSF8_uc009zjd.1_Missense_Mutation_p.P114T|RASSF8_uc009zje.1_Missense_Mutation_p.P114T	p.P114T	NM_007211	NP_009142	Q8NHQ8	RASF8_HUMAN			3	561	+	Colorectal(261;0.0847)		114					A8K1Z0|O95647|Q5SCI2|Q76KB6	Missense_Mutation	SNP	ENST00000405154.2	37	c.340C>A	CCDS53765.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156475	0.57259	.	.	ENSG00000123094	ENST00000381352;ENST00000405154;ENST00000542865;ENST00000541490;ENST00000542004;ENST00000542315;ENST00000541218;ENST00000282884;ENST00000545413	T;T;T;T;T;T;T;T;T	0.44083	1.47;1.48;1.48;1.48;0.93;0.94;0.93;1.48;0.97	4.97	4.97	0.65823	.	0.051113	0.85682	D	0.000000	T	0.32194	0.0821	L	0.37630	1.12	0.80722	D	1	B;P	0.34522	0.007;0.455	B;B	0.29598	0.023;0.104	T	0.09015	-1.0694	10	0.16420	T	0.52	-19.8182	17.5999	0.88023	0.0:1.0:0.0:0.0	.	114;114	Q8NHQ8-2;Q8NHQ8	.;RASF8_HUMAN	T	114	ENSP00000370756:P114T;ENSP00000384491:P114T;ENSP00000439839:P114T;ENSP00000443096:P114T;ENSP00000442485:P114T;ENSP00000441294:P114T;ENSP00000445970:P114T;ENSP00000282884:P114T;ENSP00000443696:P114T	ENSP00000282884:P114T	P	+	1	0	RASSF8	26108934	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.410000	0.66381	2.492000	0.84095	0.591000	0.81541	CCT		0.458	RASSF8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402209.2		NM_007211		39	109	1	0	3.09479e-21	0.092188	3.65748e-21	39	109		
KRT73	319101	broad.mit.edu	37	12	53012081	53012081	+	Silent	SNP	G	G	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr12:53012081G>A	ENST00000305748.3	-	1	262	c.228C>T	c.(226-228)ggC>ggT	p.G76G	RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	76	Gly-rich.|Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.G76G(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CACTGGCCCGGCCCCGGCCAA	0.637																																						uc001sas.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(2)|ovary(2)|skin(2)	6						c.(226-228)GGC>GGT		keratin 73							85.0	100.0	95.0					12																	53012081		2203	4300	6503	SO:0001819	synonymous_variant	319101					keratin filament	structural molecule activity	g.chr12:53012081G>A	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.228C>T	12.37:g.53012081G>A							p.G76G	NM_175068	NP_778238	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	263	-			76			Head.|Gly-rich.		Q32MB2	Silent	SNP	ENST00000305748.3	37	c.228C>T	CCDS8834.1																																																																																				0.637	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1		NM_175068		73	140	0	0	0	0.048971	0	73	140		
FRS2	10818	broad.mit.edu	37	12	69968295	69968295	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr12:69968295A>C	ENST00000550389.1	+	7	1333	c.1087A>C	c.(1087-1089)Aag>Cag	p.K363Q	FRS2_ENST00000397997.2_Missense_Mutation_p.K363Q|FRS2_ENST00000549921.1_Missense_Mutation_p.K363Q|FRS2_ENST00000299293.2_Missense_Mutation_p.K363Q	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	363					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.K363Q(2)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GGAAGCCCGCAAGCTAAGTAG	0.388																																						uc001suy.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	prostate(1)|kidney(1)	2						c.(1087-1089)AAG>CAG		fibroblast growth factor receptor substrate 2							73.0	69.0	71.0					12																	69968295		1867	4112	5979	SO:0001583	missense	10818				activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr12:69968295A>C	AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.1087A>C	12.37:g.69968295A>C	ENSP00000447241:p.Lys363Gln					FRS2_uc001suz.2_Missense_Mutation_p.K363Q|FRS2_uc009zrj.2_Missense_Mutation_p.K363Q|FRS2_uc009zrk.2_Missense_Mutation_p.K363Q	p.K363Q	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		10	1597	+	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		363					B0LPF2|B2R684|O43558|Q7LDQ6	Missense_Mutation	SNP	ENST00000550389.1	37	c.1087A>C	CCDS41809.1	.	.	.	.	.	.	.	.	.	.	A	11.85	1.760853	0.31137	.	.	ENSG00000166225	ENST00000299293;ENST00000549921;ENST00000550389;ENST00000397997	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	6.14	6.14	0.99180	.	0.253179	0.44688	D	0.000422	T	0.20373	0.0490	L	0.39898	1.24	0.36737	D	0.88204	P	0.39480	0.675	B	0.29176	0.099	T	0.13764	-1.0497	9	.	.	.	-15.7926	16.806	0.85666	1.0:0.0:0.0:0.0	.	363	Q8WU20	FRS2_HUMAN	Q	363	ENSP00000299293:K363Q;ENSP00000450048:K363Q;ENSP00000447241:K363Q;ENSP00000381083:K363Q	.	K	+	1	0	FRS2	68254562	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.901000	0.75693	2.367000	0.80283	0.529000	0.55759	AAG		0.388	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403760.1		NM_006654		22	901	0	0	0	0.076483	0	22	901		
KNTC1	9735	broad.mit.edu	37	12	123041992	123041992	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr12:123041992C>T	ENST00000333479.7	+	17	1511	c.1334C>T	c.(1333-1335)gCc>gTc	p.A445V	KNTC1_ENST00000450485.2_Missense_Mutation_p.A408V	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	445					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.A445V(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TCTGTGGATGCCAGTGAACAG	0.378																																						uc001ucv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10						c.(1333-1335)GCC>GTC		Rough Deal homolog, centromere/kinetochore							122.0	114.0	117.0					12																	123041992		1885	4126	6011	SO:0001583	missense	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123041992C>T		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.1334C>T	12.37:g.123041992C>T	ENSP00000328236:p.Ala445Val					KNTC1_uc010taf.1_Missense_Mutation_p.A408V	p.A445V	NM_014708	NP_055523	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	17	1497	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		445					A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	c.1334C>T	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830268	0.32329	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.24350	1.86;2.42	5.65	3.75	0.43078	.	0.396696	0.27971	N	0.017118	T	0.10637	0.0260	N	0.08118	0	0.24308	N	0.995092	B;B	0.12013	0.005;0.005	B;B	0.06405	0.002;0.002	T	0.14504	-1.0470	10	0.30078	T	0.28	-0.56	4.2157	0.10533	0.1444:0.5127:0.259:0.084	.	408;445	E7ES84;P50748	.;KNTC1_HUMAN	V	408;445	ENSP00000397992:A408V;ENSP00000328236:A445V	ENSP00000328236:A445V	A	+	2	0	KNTC1	121607945	0.002000	0.14202	0.013000	0.15412	0.331000	0.28603	0.835000	0.27531	1.456000	0.47831	0.563000	0.77884	GCC		0.378	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2				3	56	0	0	0	0.004672	0	3	56		
AKAP6	9472	broad.mit.edu	37	14	32902841	32902841	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr14:32902841T>A	ENST00000280979.4	+	2	312	c.142T>A	c.(142-144)Tct>Act	p.S48T	AKAP6_ENST00000557272.1_Missense_Mutation_p.S48T|AKAP6_ENST00000554449.1_3'UTR|AKAP6_ENST00000557354.1_Missense_Mutation_p.S48T	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	48					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.S48T(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GGACATGGACTCTGACCAGCA	0.547																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(142-144)TCT>ACT		A-kinase anchor protein 6							174.0	136.0	149.0					14																	32902841		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:32902841T>A	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.142T>A	14.37:g.32902841T>A	ENSP00000280979:p.Ser48Thr					AKAP6_uc010aml.2_Missense_Mutation_p.S45T	p.S48T	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	2	312	+	Breast(36;0.0388)|Prostate(35;0.15)		48					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.142T>A	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.501927	0.44455	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557102;ENST00000557272	T;T;T	0.19250	3.42;2.16;2.16	6.16	-5.14	0.02875	.	0.645763	0.16486	N	0.212333	T	0.09992	0.0245	L	0.29908	0.895	0.22489	N	0.999056	B;B	0.32245	0.084;0.361	B;B	0.19148	0.024;0.024	T	0.07462	-1.0771	10	0.66056	D	0.02	0.3669	7.4985	0.27503	0.0:0.3579:0.2157:0.4264	.	48;48	A7E242;Q13023	.;AKAP6_HUMAN	T	48	ENSP00000280979:S48T;ENSP00000450531:S48T;ENSP00000451247:S48T	ENSP00000280979:S48T	S	+	1	0	AKAP6	31972592	0.345000	0.24835	0.309000	0.25155	0.987000	0.75469	0.067000	0.14510	-0.944000	0.03686	-0.297000	0.09499	TCT		0.547	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2		NM_004274		32	77	0	0	0	0.041601	0	32	77		
BRF1	2972	broad.mit.edu	37	14	105685542	105685542	+	Missense_Mutation	SNP	C	C	T	rs587665642		TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr14:105685542C>T	ENST00000546474.1	-	13	16364	c.1405G>A	c.(1405-1407)Gtg>Atg	p.V469M	BRF1_ENST00000551787.1_Intron|BRF1_ENST00000549044.1_5'UTR|BRF1_ENST00000327359.3_Missense_Mutation_p.V354M|BRF1_ENST00000379937.2_Missense_Mutation_p.V442M|BRF1_ENST00000392557.4_Missense_Mutation_p.V265M|BRF1_ENST00000446501.2_Missense_Mutation_p.V231M|BRF1_ENST00000440513.3_Missense_Mutation_p.V376M|BRF1_ENST00000547530.1_De_novo_Start_InFrame|BRF1_ENST00000379932.4_Intron	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	469					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)	p.V469L(1)|p.V469M(1)|p.V376L(1)|p.V376M(1)		NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		TCGGCCTTCACGCGGGCTTCC	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		16536	0.001		0.0	False		,,,				2504	0.0					uc001yqp.2		NaN																	4	Substitution - Missense(4)		urinary_tract(2)|lung(2)	large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(1405-1407)GTG>ATG		transcription initiation factor IIIB isoform 1							108.0	97.0	101.0					14																	105685542		2203	4300	6503	SO:0001583	missense	2972				positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding	g.chr14:105685542C>T	U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"""General transcription factors"""	11551	protein-coding gene	gene with protein product		604902	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2"", ""BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"""	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.1405G>A	14.37:g.105685542C>T	ENSP00000448323:p.Val469Met					BRF1_uc010tyo.1_Missense_Mutation_p.V354M|BRF1_uc010typ.1_Missense_Mutation_p.V376M|BRF1_uc001yqk.2_Translation_Start_Site|BRF1_uc001yql.2_Missense_Mutation_p.V265M|BRF1_uc001yqo.2_Missense_Mutation_p.V231M|BRF1_uc010axg.1_Missense_Mutation_p.V442M|BRF1_uc001yqn.2_Intron|BRF1_uc010axh.1_Intron|BRF1_uc010axi.1_Translation_Start_Site	p.V469M	NM_001519	NP_001510	Q92994	TF3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)	13	1768	-		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	469					B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Missense_Mutation	SNP	ENST00000546474.1	37	c.1405G>A	CCDS10001.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.366013	0.61513	.	.	ENSG00000185024	ENST00000392557;ENST00000379937;ENST00000546474;ENST00000446501;ENST00000327359;ENST00000440513;ENST00000547562	.	.	.	5.15	4.01	0.46588	Brf1-like TBP-binding (1);	0.261607	0.37304	N	0.002150	T	0.32793	0.0841	L	0.34521	1.04	0.80722	D	1	B;P;P	0.42039	0.383;0.588;0.769	B;B;B	0.40199	0.113;0.216;0.322	T	0.09271	-1.0682	9	0.46703	T	0.11	.	5.3328	0.15942	0.0:0.7547:0.0:0.2453	.	376;442;469	F5H5Z7;Q92994-5;Q92994	.;.;TF3B_HUMAN	M	265;442;469;231;354;376;189	.	ENSP00000329029:V354M	V	-	1	0	BRF1	104756587	0.945000	0.32115	0.989000	0.46669	0.955000	0.61496	1.955000	0.40372	2.569000	0.86673	0.561000	0.74099	GTG		0.642	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4		NM_001519		52	128	0	0	0	0.048971	0	52	128		
USP8	9101	broad.mit.edu	37	15	50782647	50782647	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr15:50782647C>A	ENST00000396444.3	+	14	2497	c.2159C>A	c.(2158-2160)cCa>cAa	p.P720Q	USP8_ENST00000425032.3_Missense_Mutation_p.P614Q|USP8_ENST00000307179.4_Missense_Mutation_p.P720Q|USP8_ENST00000433963.1_Missense_Mutation_p.P720Q	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	720					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.P720Q(2)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TACTCCTCCCCAGATATAACC	0.478																																						uc001zym.3		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	lung(1)|central_nervous_system(1)	2						c.(2158-2160)CCA>CAA		ubiquitin specific peptidase 8							114.0	114.0	114.0					15																	50782647		2196	4294	6490	SO:0001583	missense	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50782647C>A	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2159C>A	15.37:g.50782647C>A	ENSP00000379721:p.Pro720Gln					USP8_uc001zyl.3_Missense_Mutation_p.P720Q|USP8_uc001zyn.3_Missense_Mutation_p.P720Q|USP8_uc010ufh.1_Missense_Mutation_p.P614Q|USP8_uc001zyp.3_5'Flank	p.P720Q	NM_001128611	NP_001122083	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	15	2659	+			720					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	c.2159C>A	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	C	32	5.145451	0.94603	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.02323	4.34;4.34;4.34;4.34	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.10852	0.0265	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.984;0.994	T	0.03463	-1.1034	10	0.52906	T	0.07	-13.2942	19.9733	0.97292	0.0:1.0:0.0:0.0	.	614;720	B4DKA8;P40818	.;UBP8_HUMAN	Q	720;720;720;614	ENSP00000379721:P720Q;ENSP00000405537:P720Q;ENSP00000302239:P720Q;ENSP00000412682:P614Q	ENSP00000302239:P720Q	P	+	2	0	USP8	48569939	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.442000	0.80503	2.790000	0.95986	0.650000	0.86243	CCA		0.478	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1		NM_005154		8	170	1	0	0.000274275	0.047766	0.000287547	8	170		
THSD4	79875	broad.mit.edu	37	15	72030241	72030241	+	Nonsense_Mutation	SNP	C	C	T	rs373897660		TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr15:72030241C>T	ENST00000355327.3	+	11	1935	c.1801C>T	c.(1801-1803)Cga>Tga	p.R601*	THSD4_ENST00000261862.6_Nonsense_Mutation_p.R601*|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Nonsense_Mutation_p.R241*			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	601					elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)	p.R601*(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTCTCCCCATCGACCGGACAA	0.597																																						uc002atb.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(2)	2						c.(1801-1803)CGA>TGA		thrombospondin, type I, domain containing 4		C	stop/ARG	1,4149		0,1,2074	121.0	143.0	136.0		1801	3.9	0.0	15		136	0,8392		0,0,4196	no	stop-gained	THSD4	NM_024817.2		0,1,6270	TT,TC,CC		0.0,0.0241,0.0080		601/1019	72030241	1,12541	2075	4196	6271	SO:0001587	stop_gained	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:72030241C>T	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.1801C>T	15.37:g.72030241C>T	ENSP00000347484:p.Arg601*					THSD4_uc010ukg.1_Nonsense_Mutation_p.R241*|THSD4_uc002ate.2_Nonsense_Mutation_p.R241*	p.R601*	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN			10	1880	+			601					B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Nonsense_Mutation	SNP	ENST00000355327.3	37	c.1801C>T	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116446	0.77323	2.41E-4	0.0	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	.	.	.	4.82	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	11.1629	0.48526	0.0:0.9084:0.0:0.0916	.	.	.	.	X	601;601;241	.	ENSP00000261862:R601X	R	+	1	2	THSD4	69817295	0.061000	0.20836	0.001000	0.08648	0.006000	0.05464	3.586000	0.53950	1.152000	0.42452	0.650000	0.86243	CGA		0.597	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2		NM_024817		50	52	0	0	0	0.048971	0	50	52		
WDR90	197335	broad.mit.edu	37	16	703599	703599	+	Silent	SNP	G	G	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr16:703599G>A	ENST00000293879.4	+	12	1308	c.1308G>A	c.(1306-1308)cgG>cgA	p.R436R	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000549091.1_Silent_p.R436R			Q96KV7	WDR90_HUMAN	WD repeat domain 90	436								p.R436R(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GTGTGATGCGGCTCTGGGACT	0.657																																						uc002cii.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(1306-1308)CGG>CGA		WD repeat domain 90							60.0	67.0	65.0					16																	703599		2015	4174	6189	SO:0001819	synonymous_variant	197335							g.chr16:703599G>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1308G>A	16.37:g.703599G>A						WDR90_uc002cig.1_Silent_p.R436R|WDR90_uc002cih.1_Silent_p.R437R|WDR90_uc002cij.1_RNA|WDR90_uc002cik.1_5'Flank	p.R436R	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN			12	1362	+		Hepatocellular(780;0.0218)	436			WD 1.		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	ENST00000293879.4	37	c.1308G>A	CCDS42092.1																																																																																				0.657	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1		NM_145294		50	59	0	0	0	0.048971	0	50	59		
GRIN2A	2903	broad.mit.edu	37	16	9858022	9858022	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr16:9858022C>A	ENST00000396573.2	-	14	3688	c.3379G>T	c.(3379-3381)Ggt>Tgt	p.G1127C	GRIN2A_ENST00000396575.2_Missense_Mutation_p.G1127C|GRIN2A_ENST00000535259.1_Missense_Mutation_p.G970C|GRIN2A_ENST00000330684.3_Missense_Mutation_p.G1127C|GRIN2A_ENST00000404927.2_Missense_Mutation_p.G1127C|GRIN2A_ENST00000562109.1_Missense_Mutation_p.G1127C	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1127					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.G1127C(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AAGTGGAAACCAGGCTCCTTC	0.512																																						uc002czo.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(3379-3381)GGT>TGT		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						135.0	134.0	134.0					16																	9858022		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9858022C>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3379G>T	16.37:g.9858022C>A	ENSP00000379818:p.Gly1127Cys					GRIN2A_uc010uym.1_Missense_Mutation_p.G1127C|GRIN2A_uc010uyn.1_Missense_Mutation_p.G970C|GRIN2A_uc002czr.3_Missense_Mutation_p.G1127C	p.G1127C	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			13	3927	-			1127			Cytoplasmic (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3379G>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	8.571	0.880142	0.17467	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.11712	2.76;2.75;2.75;2.76;2.76	5.42	-0.869	0.10649	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.194699	0.64402	D	0.000006	T	0.09730	0.0239	N	0.22421	0.69	0.26426	N	0.976012	P;D;P	0.59767	0.877;0.986;0.58	P;P;B	0.53450	0.605;0.726;0.371	T	0.24621	-1.0155	9	.	.	.	.	6.7673	0.23575	0.0:0.3983:0.1311:0.4706	.	970;1127;1127	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	C	1127;1127;970;1127;1127	ENSP00000379818:G1127C;ENSP00000385872:G1127C;ENSP00000441572:G970C;ENSP00000332549:G1127C;ENSP00000379820:G1127C	.	G	-	1	0	GRIN2A	9765523	1.000000	0.71417	0.448000	0.26945	0.183000	0.23260	2.442000	0.44873	-0.471000	0.06891	-0.312000	0.09012	GGT		0.512	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3				10	260	1	0	0.00829132	0.069234	0.00842087	10	260		
ABCC6	368	broad.mit.edu	37	16	16297362	16297362	+	Silent	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr16:16297362C>T	ENST00000205557.7	-	8	932	c.903G>A	c.(901-903)aaG>aaA	p.K301K	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	301					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.K301K(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	GCCAGATGGCCTTCAGCAGTG	0.567																																						uc002den.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(2)|ovary(1)	3						c.(901-903)AAG>AAA		ATP-binding cassette, sub-family C, member 6							63.0	58.0	60.0					16																	16297362		2197	4298	6495	SO:0001819	synonymous_variant	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16297362C>T	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.903G>A	16.37:g.16297362C>T						ABCC6_uc010bvo.2_RNA|ABCC6_uc010uzz.1_Silent_p.K313K	p.K301K	NM_001171	NP_001162	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	8	940	-			301			Cytoplasmic (By similarity).		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Silent	SNP	ENST00000205557.7	37	c.903G>A	CCDS10568.1																																																																																				0.567	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2				23	53	0	0	0	0.037714	0	23	53		
CCDC144A	9720	broad.mit.edu	37	17	16593762	16593762	+	Silent	SNP	G	G	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr17:16593762G>A	ENST00000360524.8	+	1	124	c.48G>A	c.(46-48)ccG>ccA	p.P16P	CCDC144A_ENST00000340621.5_Silent_p.P16P|CCDC144A_ENST00000443444.2_Silent_p.P16P|CCDC144A_ENST00000456009.1_Silent_p.P16P|CCDC144A_ENST00000399273.1_Silent_p.P16P|CCDC144A_ENST00000436374.1_3'UTR|RP11-219A15.1_ENST00000448331.3_Silent_p.P16P|RNU6-405P_ENST00000516637.1_RNA	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	16								p.P16P(1)									AGGGGTCTCCGAAGCCGGCAG	0.672																																						uc002gqk.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(46-48)CCG>CCA		coiled-coil domain containing 144A							19.0	22.0	21.0					17																	16593762		2202	4300	6502	SO:0001819	synonymous_variant	9720							g.chr17:16593762G>A	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.48G>A	17.37:g.16593762G>A							p.P16P	NM_014695	NP_055510	A2RUR9	C144A_HUMAN			1	124	+			16					O60311|Q6ZU57	Silent	SNP	ENST00000360524.8	37	c.48G>A	CCDS45621.1																																																																																				0.672	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1				7	42	0	0	0	0.02938	0	7	42		
SDK2	54549	broad.mit.edu	37	17	71433929	71433929	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr17:71433929G>A	ENST00000392650.3	-	8	949	c.949C>T	c.(949-951)Cac>Tac	p.H317Y	SDK2_ENST00000388726.3_Missense_Mutation_p.H317Y	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	317	Ig-like C2-type 4.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.H317Y(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCAGTGATGTGTCTTTCTGGC	0.587																																						uc010dfm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(949-951)CAC>TAC		sidekick 2							140.0	110.0	120.0					17																	71433929		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71433929G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.949C>T	17.37:g.71433929G>A	ENSP00000376421:p.His317Tyr					SDK2_uc010dfn.2_5'UTR	p.H317Y	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN			8	949	-			317			Extracellular (Potential).|Ig-like C2-type 4.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.949C>T	CCDS45769.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.72|13.72	2.320374|2.320374	0.41096|0.41096	.|.	.|.	ENSG00000069188|ENSG00000069188	ENST00000392650;ENST00000388726;ENST00000316893|ENST00000416616	T;T|.	0.67171|.	-0.25;-0.25|.	5.02|5.02	5.02|5.02	0.67125|0.67125	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.64402|.	U|.	0.000001|.	T|T	0.56031|0.56031	0.1958|0.1958	N|N	0.26042|0.26042	0.785|0.785	0.58432|0.58432	D|D	0.999999|0.999999	B|.	0.15141|.	0.012|.	B|.	0.15870|.	0.014|.	T|T	0.51988|0.51988	-0.8635|-0.8635	9|5	.|.	.|.	.|.	.|.	18.3284|18.3284	0.90261|0.90261	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	317|.	Q58EX2|.	SDK2_HUMAN|.	Y|I	317|221	ENSP00000376421:H317Y;ENSP00000373378:H317Y|.	.|.	H|T	-|-	1|2	0|0	SDK2|SDK2	68945524|68945524	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.534000|0.534000	0.34807|0.34807	7.407000|7.407000	0.80029|0.80029	2.330000|2.330000	0.79161|0.79161	0.462000|0.462000	0.41574|0.41574	CAC|ACA		0.587	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2		NM_019064		53	92	0	0	0	0.048971	0	53	92		
MUC16	94025	broad.mit.edu	37	19	9045585	9045585	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr19:9045585C>T	ENST00000397910.4	-	5	36249	c.36046G>A	c.(36046-36048)Gag>Aag	p.E12016K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12018	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.E12016K(1)|p.E7649K(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCACACTCTCAGAGGCCAAG	0.398																																						uc002mkp.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(36046-36048)GAG>AAG		mucin 16							120.0	111.0	114.0					19																	9045585		1887	4121	6008	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9045585C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.36046G>A	19.37:g.9045585C>T	ENSP00000381008:p.Glu12016Lys						p.E12016K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	36250	-			12018			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.36046G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	C	4.202	0.036292	0.08148	.	.	ENSG00000181143	ENST00000397910	T	0.02216	4.39	3.6	1.44	0.22558	.	.	.	.	.	T	0.01421	0.0046	N	0.08118	0	.	.	.	B	0.06786	0.001	B	0.04013	0.001	T	0.34030	-0.9845	8	0.87932	D	0	.	5.2325	0.15430	0.0:0.654:0.2284:0.1176	.	12016	B5ME49	.	K	12016	ENSP00000381008:E12016K	ENSP00000381008:E12016K	E	-	1	0	MUC16	8906585	0.050000	0.20438	0.122000	0.21767	0.158000	0.22134	0.134000	0.15932	0.513000	0.28278	-0.347000	0.07816	GAG		0.398	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		18	15	0	0	0	0.038395	0	18	15		
C19orf44	84167	broad.mit.edu	37	19	16612266	16612266	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr19:16612266G>T	ENST00000221671.3	+	2	819	c.663G>T	c.(661-663)ttG>ttT	p.L221F	C19orf44_ENST00000594035.1_Missense_Mutation_p.L221F|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	221								p.L221F(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						TGAAAGTATTGCTAGGAAGCT	0.433																																						uc002neh.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(661-663)TTG>TTT		hypothetical protein LOC84167							73.0	78.0	76.0					19																	16612266		2203	4299	6502	SO:0001583	missense	84167							g.chr19:16612266G>T	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.663G>T	19.37:g.16612266G>T	ENSP00000221671:p.Leu221Phe					MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.L221F|C19orf44_uc002neg.2_Missense_Mutation_p.L221F|C19orf44_uc010eai.1_RNA	p.L221F	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN			2	736	+			221					Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.663G>T	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899642	0.52227	.	.	ENSG00000105072	ENST00000221671	.	.	.	5.16	4.0	0.46444	.	0.000000	0.53938	D	0.000056	T	0.70631	0.3246	M	0.74258	2.255	0.40766	D	0.983047	D;D	0.89917	0.995;1.0	P;D	0.87578	0.82;0.998	T	0.69709	-0.5072	9	0.39692	T	0.17	-9.4001	7.1183	0.25429	0.101:0.1668:0.7322:0.0	.	221;221	Q9H6X5;Q9H6X5-2	CS044_HUMAN;.	F	221	.	ENSP00000221671:L221F	L	+	3	2	C19orf44	16473266	0.985000	0.35326	0.852000	0.33557	0.555000	0.35460	1.488000	0.35551	1.004000	0.39156	0.655000	0.94253	TTG		0.433	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1		NM_032207		21	83	1	0	8.10497e-08	0.055883	9.08316e-08	21	83		
NLRP12	91662	broad.mit.edu	37	19	54327327	54327327	+	Silent	SNP	G	G	A	rs199600685		TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr19:54327327G>A	ENST00000324134.6	-	1	270	c.102C>T	c.(100-102)acC>acT	p.T34T	NLRP12_ENST00000391772.1_Silent_p.T34T|NLRP12_ENST00000351894.4_Silent_p.T34T|NLRP12_ENST00000345770.5_Silent_p.T34T|NLRP12_ENST00000391773.1_Silent_p.T34T|NLRP12_ENST00000391775.3_Silent_p.T34T|NLRP12_ENST00000354278.3_Silent_p.T34T|NLRP12_ENST00000535162.1_Silent_p.T34T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	34	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.T34T(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCTCTGTCGCGGTCCCCAGGT	0.602																																						uc002qch.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(100-102)ACC>ACT		NLR family, pyrin domain containing 12 isoform							58.0	55.0	56.0					19																	54327327		2203	4300	6503	SO:0001819	synonymous_variant	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54327327G>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.102C>T	19.37:g.54327327G>A						NLRP12_uc002qci.3_Silent_p.T34T|NLRP12_uc002qcj.3_Silent_p.T34T|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.T34T	p.T34T	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	1	322	-	Ovarian(34;0.19)		34			DAPIN.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	c.102C>T	CCDS12864.1																																																																																				0.602	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1		NM_144687		51	98	0	0	0	0.048971	0	51	98		
NRXN1	9378	broad.mit.edu	37	2	50850546	50850546	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr2:50850546C>T	ENST00000406316.2	-	6	2516	c.1040G>A	c.(1039-1041)gGa>gAa	p.G347E	NRXN1_ENST00000401669.2_Missense_Mutation_p.G347E|NRXN1_ENST00000406859.3_Missense_Mutation_p.G347E|NRXN1_ENST00000405472.3_Missense_Mutation_p.G347E|NRXN1_ENST00000402717.3_Missense_Mutation_p.G347E|NRXN1_ENST00000404971.1_Missense_Mutation_p.G380E|NRXN1_ENST00000331040.5_5'UTR	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	347	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.G381E(1)|p.G380E(1)|p.G347E(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GGCCCCTGATCCCAAATTAAT	0.458																																						uc010fbq.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	ovary(2)	2						c.(1138-1140)GGA>GAA		neurexin 1 isoform alpha2 precursor							118.0	112.0	114.0					2																	50850546		1896	4128	6024	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50850546C>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1040G>A	2.37:g.50850546C>T	ENSP00000384311:p.Gly347Glu					NRXN1_uc002rxb.3_Missense_Mutation_p.G27E|NRXN1_uc002rxe.3_Missense_Mutation_p.G347E|NRXN1_uc002rxc.1_RNA	p.G380E	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		6	2616	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	159			Extracellular (Potential).|Laminin G-like.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.1139G>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506691	0.85282	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	D;D;D;D;D;D	0.85088	-1.94;-1.94;-1.82;-1.94;-1.82;-1.94	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.93517	0.7931	M	0.84433	2.695	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.93658	0.6979	10	0.66056	D	0.02	.	19.9038	0.96999	0.0:1.0:0.0:0.0	.	380;347;347	Q9ULB1-3;F8WB18;A7E294	.;.;.	E	380;347;347;347;381;347;347	ENSP00000385142:G380E;ENSP00000384311:G347E;ENSP00000434015:G347E;ENSP00000385017:G347E;ENSP00000385434:G347E;ENSP00000385681:G347E	ENSP00000385017:G347E	G	-	2	0	NRXN1	50704050	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.708000	0.92522	0.557000	0.71058	GGA		0.458	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2				43	94	0	0	0	0.039052	0	43	94		
MTHFD2	10797	broad.mit.edu	37	2	74432845	74432845	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr2:74432845G>T	ENST00000394053.2	+	2	195	c.115G>T	c.(115-117)Gtc>Ttc	p.V39F	MTHFD2_ENST00000477455.1_3'UTR|MTHFD2_ENST00000409601.1_Missense_Mutation_p.V39F|MTHFD2_ENST00000264090.4_Intron|MTHFD2_ENST00000394050.3_Intron|MTHFD2_ENST00000409804.1_Missense_Mutation_p.V39F	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	39					folic acid-containing compound biosynthetic process (GO:0009396)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate metabolic process (GO:0046653)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	magnesium ion binding (GO:0000287)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|phosphate ion binding (GO:0042301)	p.V39F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					Tetrahydrofolic acid(DB00116)	TGAAGCTGTTGTCATTTCTGG	0.468																																						uc002skk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(115-117)GTC>TTC		methylenetetrahydrofolate dehydrogenase 2	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						47.0	48.0	48.0					2																	74432845		1887	4116	6003	SO:0001583	missense	10797				folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding	g.chr2:74432845G>T	X16396	CCDS1935.2	2p13.1	2008-05-02			ENSG00000065911	ENSG00000065911			7434	protein-coding gene	gene with protein product		604887				2587219, 8218174	Standard	NR_027405		Approved		uc002skk.3	P13995	OTTHUMG00000129814	ENST00000394053.2:c.115G>T	2.37:g.74432845G>T	ENSP00000377617:p.Val39Phe					MTHFD2_uc002skj.2_5'UTR|MTHFD2_uc010yro.1_Intron|MTHFD2_uc010ffb.2_Missense_Mutation_p.V39F|MTHFD2_uc010yrp.1_Intron	p.V39F	NM_006636	NP_006627	P13995	MTDC_HUMAN			2	194	+			39					Q53G90|Q53GV5|Q53S36|Q7Z650	Missense_Mutation	SNP	ENST00000394053.2	37	c.115G>T	CCDS1935.2	.	.	.	.	.	.	.	.	.	.	G	13.68	2.309738	0.40895	.	.	ENSG00000065911	ENST00000394053;ENST00000409804;ENST00000409601	T;T;T	0.52057	1.66;0.68;1.65	4.73	1.95	0.26073	Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain (1);	0.133347	0.52532	D	0.000080	T	0.59252	0.2180	M	0.80508	2.5	0.80722	D	1	P;P	0.50528	0.936;0.872	P;P	0.54590	0.756;0.691	T	0.59963	-0.7355	10	0.87932	D	0	.	8.4764	0.33016	0.2622:0.0:0.7378:0.0	.	39;39	B8ZZU9;P13995	.;MTDC_HUMAN	F	39	ENSP00000377617:V39F;ENSP00000386536:V39F;ENSP00000386542:V39F	ENSP00000377617:V39F	V	+	1	0	MTHFD2	74286353	0.993000	0.37304	0.872000	0.34217	0.300000	0.27592	2.135000	0.42112	0.182000	0.20032	-0.136000	0.14681	GTC		0.468	MTHFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252045.2				8	51	1	0	0.00307968	0.038147	0.00317745	8	51		
SCN2A	6326	broad.mit.edu	37	2	166245543	166245543	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr2:166245543A>G	ENST00000375437.2	+	27	5517	c.5227A>G	c.(5227-5229)Aaa>Gaa	p.K1743E	SCN2A_ENST00000357398.3_Missense_Mutation_p.K1743E|SCN2A_ENST00000375427.2_Missense_Mutation_p.K1743E|SCN2A_ENST00000283256.6_Missense_Mutation_p.K1743E	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1743					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.K1743E(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGCTCAGTTAAAGGAGACTG	0.458																																						uc002udc.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(6)|breast(1)|pancreas(1)	8						c.(5227-5229)AAA>GAA		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						192.0	189.0	190.0					2																	166245543		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166245543A>G	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.5227A>G	2.37:g.166245543A>G	ENSP00000364586:p.Lys1743Glu					SCN2A_uc002udd.2_Missense_Mutation_p.K1743E|SCN2A_uc002ude.2_Missense_Mutation_p.K1743E	p.K1743E	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			27	5517	+			1743			IV.		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.5227A>G	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	A	11.84	1.758825	0.31137	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.95949	-3.86;-3.86;-3.86;-3.86	5.72	5.72	0.89469	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.95421	0.8513	L	0.42487	1.325	0.44104	D	0.996872	B;P	0.38597	0.116;0.639	B;P	0.49922	0.059;0.626	D	0.95043	0.8180	10	0.45353	T	0.12	.	16.3507	0.83204	1.0:0.0:0.0:0.0	.	1743;1743	Q99250-2;Q99250	.;SCN2A_HUMAN	E	1743	ENSP00000364586:K1743E;ENSP00000349973:K1743E;ENSP00000283256:K1743E;ENSP00000364576:K1743E	ENSP00000283256:K1743E	K	+	1	0	SCN2A	165953789	1.000000	0.71417	0.997000	0.53966	0.922000	0.55478	7.073000	0.76784	2.319000	0.78375	0.524000	0.50904	AAA		0.458	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2		NM_021007		70	231	0	0	0	0.048971	0	70	231		
TTN	7273	broad.mit.edu	37	2	179475790	179475790	+	Silent	SNP	G	G	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr2:179475790G>A	ENST00000591111.1	-	220	46367	c.46143C>T	c.(46141-46143)gcC>gcT	p.A15381A	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.A17022A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.A8149A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Silent_p.A7957A|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.A8082A|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Silent_p.A14454A|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15381	Ig-like 97.				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.A14454A(2)|p.A7957A(1)|p.A8082A(1)|p.A8149A(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)			TATAAATTCCGGCATCTGCAC	0.393																																						uc010zfg.1		NaN																	5	Substitution - coding silent(5)		urinary_tract(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.(43360-43362)GCC>GCT		titin isoform N2-A							173.0	166.0	168.0					2																	179475790		1898	4118	6016	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179475790G>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.46143C>T	2.37:g.179475790G>A						uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A8149A|TTN_uc010zfi.1_Silent_p.A8082A|TTN_uc010zfj.1_Silent_p.A7957A	p.A14454A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		219	43586	-			15381					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.43362C>T																																																																																					0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		6	185	0	0	0	0.021553	0	6	185		
PTPRT	11122	broad.mit.edu	37	20	40735463	40735463	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr20:40735463T>G	ENST00000373187.1	-	24	3352	c.3353A>C	c.(3352-3354)gAg>gCg	p.E1118A	PTPRT_ENST00000356100.2_Missense_Mutation_p.E1127A|PTPRT_ENST00000373198.4_Missense_Mutation_p.E1137A|PTPRT_ENST00000373201.1_Missense_Mutation_p.E1108A|PTPRT_ENST00000373190.1_Missense_Mutation_p.E1117A|PTPRT_ENST00000373184.1_Missense_Mutation_p.E1128A|PTPRT_ENST00000373193.3_Missense_Mutation_p.E1121A			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1118	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.E1140A(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGCCCGGAGCTCACGCACGCA	0.577																																						uc002xkg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(8)|ovary(7)|lung(5)	20						c.(3352-3354)GAG>GCG		protein tyrosine phosphatase, receptor type, T							100.0	111.0	107.0					20																	40735463		2119	4234	6353	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40735463T>G	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3353A>C	20.37:g.40735463T>G	ENSP00000362283:p.Glu1118Ala					PTPRT_uc010ggj.2_Missense_Mutation_p.E1137A|PTPRT_uc010ggi.2_Missense_Mutation_p.E321A	p.E1118A	NM_007050	NP_008981	O14522	PTPRT_HUMAN			24	3537	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1118			Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.3353A>C	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	T	13.27	2.186763	0.38609	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	D;D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	5.41	5.41	0.78517	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.78685	0.4322	N	0.10664	0.02	0.80722	D	1	P;P	0.43973	0.788;0.823	P;P	0.55713	0.675;0.782	T	0.76948	-0.2770	10	0.19147	T	0.46	.	15.7427	0.77914	0.0:0.0:0.0:1.0	.	1140;1118	O14522-1;O14522	.;PTPRT_HUMAN	A	1117;1118;1121;1127;1140;1128;1108	ENSP00000362286:E1117A;ENSP00000362283:E1118A;ENSP00000362289:E1121A;ENSP00000348408:E1127A;ENSP00000362294:E1140A;ENSP00000362280:E1128A;ENSP00000362297:E1108A	ENSP00000348408:E1127A	E	-	2	0	PTPRT	40168877	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.203000	0.58453	2.178000	0.69098	0.482000	0.46254	GAG		0.577	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1				76	191	0	0	0	0.048971	0	76	191		
LSMEM2	132228	broad.mit.edu	37	3	50324241	50324241	+	Silent	SNP	G	G	A	rs148270141	byFrequency	TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr3:50324241G>A	ENST00000316436.3	+	3	396	c.309G>A	c.(307-309)gcG>gcA	p.A103A		NM_153215.1	NP_694947.1	Q8N112	LSME2_HUMAN	leucine-rich single-pass membrane protein 2	103						integral component of membrane (GO:0016021)		p.A103A(1)									TGCTGCTCGCGCTGCTGGTGC	0.622																																						uc003cyz.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(307-309)GCG>GCA		hypothetical protein LOC132228		G		0,4406		0,0,2203	84.0	79.0	81.0		309	-10.5	0.0	3	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C3orf45	NM_153215.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		103/165	50324241	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	132228					integral to membrane		g.chr3:50324241G>A	AK095927	CCDS2814.1	3p21.31	2013-03-08	2013-03-08	2013-03-08	ENSG00000179564	ENSG00000179564			26781	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 45"""	C3orf45			Standard	NM_153215		Approved	FLJ38608	uc003cyz.3	Q8N112	OTTHUMG00000156938	ENST00000316436.3:c.309G>A	3.37:g.50324241G>A							p.A103A	NM_153215	NP_694947	Q8N112	CC045_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	3	336	+			103			Helical; (Potential).			Silent	SNP	ENST00000316436.3	37	c.309G>A	CCDS2814.1																																																																																				0.622	LSMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346671.1		NM_153215		11	75	0	0	0	0.080935	0	11	75		
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																						uc011bto.1		NaN																	10	Substitution - Missense(10)		kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)		0						c.(12229-12231)CAC>CAG		mucin 4 isoform a							15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505836G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln					MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	p.H4077Q	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	3	12691	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12231C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406		4	5	0	0	0	0.009096	0	4	5		
FGFR3	2261	broad.mit.edu	37	4	1803564	1803564	+	Missense_Mutation	SNP	C	C	T	rs121913482		TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNASeq			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr4:1803564C>T	ENST00000260795.2	+	6	844	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.R248C|FGFR3_ENST00000352904.1_Missense_Mutation_p.R248C|FGFR3_ENST00000340107.4_Missense_Mutation_p.R248C|FGFR3_ENST00000440486.2_Missense_Mutation_p.R248C|FGFR3_ENST00000412135.2_Missense_Mutation_p.R248C			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	248			R -> C (in KERSEB, bladder cancer, keratinocytic non-epidermolytic nevus and TD1; severe and lethal; also found as somatic mutation in one patient with multiple myeloma; constitutive dimerization and kinase activation). {ECO:0000269|PubMed:10360402, ECO:0000269|PubMed:10471491, ECO:0000269|PubMed:11529856, ECO:0000269|PubMed:15772091, ECO:0000269|PubMed:16841094, ECO:0000269|PubMed:7773297, ECO:0000269|PubMed:8845844}.		alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.R248C(241)|p.R248_S249del(1)|p.R248_S249insC(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	CCCCACAGAGCGCTCCCCGCA	0.741		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													uc003gdr.3		1		Dom	yes		4	4p16.3	2261	Mis|T	fibroblast growth factor receptor 3	yes	Hypochondroplasia|Thanatophoric dysplasia	"""L, E"""	IGH@|ETV6		bladder|MM|T-cell lymphoma		243	Substitution - Missense(241)|Insertion - In frame(1)|Deletion - In frame(1)	p.R248C(291)|p.R248_S249insC(2)|p.R248_S249del(1)	urinary_tract(168)|skin(70)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|upper_aerodigestive_tract(1)	urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600	GRCh37	CM950469	FGFR3	M	rs121913482	c.(742-744)CGC>TGC		fibroblast growth factor receptor 3 isoform 1	Palifermin(DB00039)						13.0	15.0	14.0					4																	1803564		2180	4268	6448	SO:0001583	missense	2261	Muenke_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1803564C>T	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.742C>T	4.37:g.1803564C>T	ENSP00000260795:p.Arg248Cys					FGFR3_uc003gdu.2_Missense_Mutation_p.R248C|FGFR3_uc003gds.3_Missense_Mutation_p.R248C|FGFR3_uc003gdq.3_Missense_Mutation_p.R248C|FGFR3_uc010icb.1_Missense_Mutation_p.R90C|FGFR3_uc003gdt.1_Missense_Mutation_p.R90C	p.R248C	NM_000142	NP_000133	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		7	998	+		Breast(71;0.212)|all_epithelial(65;0.241)	248		R -> C (in KERSEB, bladder cancer, keratinocytic non-epidermolytic nevus and TD1; severe and lethal; also found as somatic mutation in one patient with multiple myeloma).	Extracellular (Potential).		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.742C>T	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	c	16.88	3.244004	0.58995	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904;ENST00000507588	D;T;T;T;T;T;T	0.83075	-1.68;-1.44;-1.44;-1.39;-1.44;-1.39;-1.37	3.93	3.0	0.34707	.	0.126462	0.53938	N	0.000041	D	0.93719	0.7993	H	0.97465	4.01	0.46499	A	0.999078	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.91635	0.891;0.982;0.997;0.995;0.959;0.999	D	0.96515	0.9381	9	0.87932	D	0	.	13.5812	0.61905	0.236:0.764:0.0:0.0	.	211;248;248;248;248;248	Q8NI15;P22607-2;P22607-4;P22607-3;P22607;F8W9L4	.;.;.;.;FGFR3_HUMAN;.	C	248;248;248;248;248;248;68	ENSP00000420533:R248C;ENSP00000339824:R248C;ENSP00000414914:R248C;ENSP00000412903:R248C;ENSP00000260795:R248C;ENSP00000231803:R248C;ENSP00000427289:R68C	ENSP00000260795:R248C	R	+	1	0	FGFR3	1773362	1.000000	0.71417	1.000000	0.80357	0.453000	0.32348	2.239000	0.43079	1.898000	0.54952	0.430000	0.28490	CGC		0.741	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2		NM_000142		7	14	0	0	0	0.080935	0	7	14		
CWH43	80157	broad.mit.edu	37	4	49040081	49040081	+	Missense_Mutation	SNP	A	A	T	rs534414846		TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr4:49040081A>T	ENST00000226432.4	+	13	1870	c.1687A>T	c.(1687-1689)Att>Ttt	p.I563F	CWH43_ENST00000513409.1_Missense_Mutation_p.I536F	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	563					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)		p.I563F(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						ACTGCAGGCTATTGCTGTTTC	0.358																																						uc003gyv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|ovary(1)	3						c.(1687-1689)ATT>TTT		cell wall biogenesis 43 C-terminal homolog							133.0	139.0	137.0					4																	49040081		2203	4300	6503	SO:0001583	missense	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:49040081A>T		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.1687A>T	4.37:g.49040081A>T	ENSP00000226432:p.Ile563Phe					CWH43_uc011bzl.1_Missense_Mutation_p.I536F	p.I563F	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN			13	1869	+			563					B2RPD7	Missense_Mutation	SNP	ENST00000226432.4	37	c.1687A>T	CCDS3486.1	.	.	.	.	.	.	.	.	.	.	A	14.38	2.518961	0.44866	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.29655	1.56;1.56	3.72	3.72	0.42706	Endonuclease/exonuclease/phosphatase (1);	0.000000	0.56097	D	0.000022	T	0.27278	0.0669	L	0.29908	0.895	0.41128	D	0.985868	D	0.54964	0.969	P	0.51016	0.656	T	0.01819	-1.1267	9	.	.	.	.	7.274	0.26273	0.8957:0.0:0.1043:0.0	.	563	Q9H720	PG2IP_HUMAN	F	563;536	ENSP00000226432:I563F;ENSP00000422802:I536F	.	I	+	1	0	CWH43	48734838	0.992000	0.36948	0.998000	0.56505	0.960000	0.62799	2.191000	0.42640	1.926000	0.55796	0.454000	0.30748	ATT		0.358	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2		NM_025087		58	226	0	0	0	0.048971	0	58	226		
MMRN1	22915	broad.mit.edu	37	4	90857417	90857417	+	Silent	SNP	G	G	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr4:90857417G>A	ENST00000394980.1	+	7	2905	c.2586G>A	c.(2584-2586)ttG>ttA	p.L862L	MMRN1_ENST00000264790.2_Silent_p.L862L|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Silent_p.L604L			Q13201	MMRN1_HUMAN	multimerin 1	862					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)		p.L862L(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AGACTCGGTTGCAAGACATTG	0.358																																						uc003hst.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)	4						c.(2584-2586)TTG>TTA		multimerin 1							36.0	38.0	37.0					4																	90857417		2195	4296	6491	SO:0001819	synonymous_variant	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90857417G>A	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2586G>A	4.37:g.90857417G>A						MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Silent_p.L604L	p.L862L	NM_007351	NP_031377	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	6	2657	+		Hepatocellular(203;0.114)	862			Potential.		Q4W5L1|Q6P3T8|Q6ZUL9	Silent	SNP	ENST00000394980.1	37	c.2586G>A	CCDS3635.1																																																																																				0.358	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2		NM_007351		6	26	0	0	0	0.021553	0	6	26		
INPP4B	8821	broad.mit.edu	37	4	143159109	143159110	+	Missense_Mutation	DNP	CC	CC	TG			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr4:143159109_143159110CC>TG	ENST00000513000.1	-	13	1176_1177	c.743_744GG>CA	c.(742-744)tGG>tCA	p.W248S	INPP4B_ENST00000262992.4_Missense_Mutation_p.W248S|INPP4B_ENST00000308502.4_Missense_Mutation_p.W248S|INPP4B_ENST00000508116.1_Missense_Mutation_p.W248S|INPP4B_ENST00000509777.1_Missense_Mutation_p.W248S	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	248					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.W248S(2)|p.W248*(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GAATTCGCATCCACTTATTGTC	0.327																																						uc003iix.3		NaN																	3	Substitution - Missense(2)|Substitution - Nonsense(1)		urinary_tract(3)	ovary(1)|lung(1)	2						c.(742-744)TGG>TCA		inositol polyphosphate-4-phosphatase, type II,																																				SO:0001583	missense	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143159109_143159110CC>TG	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.743_744delinsTG	4.37:g.143159109_143159110delinsTG	ENSP00000425487:p.Trp248Ser					INPP4B_uc003iiw.3_Missense_Mutation_p.W248S|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.W63S|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Missense_Mutation_p.W119S	p.W248S	NM_003866	NP_003857	O15327	INP4B_HUMAN			13	1338_1339	-	all_hematologic(180;0.158)		248					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	DNP	ENST00000513000.1	37	c.743_744GG>CA	CCDS3757.1																																																																																				0.327	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1		NM_003866		18	32	0	0	0	0.004672	0	18	32		
FGG	2266	broad.mit.edu	37	4	155530879	155530879	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr4:155530879C>T	ENST00000336098.3	-	6	607	c.569G>A	c.(568-570)aGc>aAc	p.S190N	FGG_ENST00000404648.3_Missense_Mutation_p.S190N|FGG_ENST00000405164.1_Missense_Mutation_p.S198N|FGG_ENST00000407946.1_Missense_Mutation_p.S198N	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	190	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)	p.S190N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GTAAAGCCCGCTCTGTTTAGC	0.418																																						uc003ioj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(568-570)AGC>AAC		fibrinogen, gamma chain isoform gamma-B	Sucralfate(DB00364)						107.0	103.0	104.0					4																	155530879		2203	4300	6503	SO:0001583	missense	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155530879C>T		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.569G>A	4.37:g.155530879C>T	ENSP00000336829:p.Ser190Asn					FGG_uc003iog.2_Missense_Mutation_p.S190N|FGG_uc003ioh.2_Missense_Mutation_p.S198N|FGG_uc010ipx.2_Missense_Mutation_p.S18N|FGG_uc010ipy.2_5'UTR|FGG_uc003ioi.2_5'UTR|FGG_uc003iok.2_Missense_Mutation_p.S198N	p.S190N	NM_021870	NP_068656	P02679	FIBG_HUMAN			6	710	-	all_hematologic(180;0.215)	Renal(120;0.0458)	190			Fibrinogen C-terminal.		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	ENST00000336098.3	37	c.569G>A	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810057	0.90707	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946;ENST00000443553;ENST00000393846	D;D;D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88;-1.88;-1.88	5.46	5.46	0.80206	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.91153	0.7214	M	0.65320	2	0.80722	D	1	D;P;D;D;D	0.76494	0.963;0.834;0.999;0.994;0.993	P;P;D;P;P	0.66196	0.661;0.647;0.942;0.904;0.845	D	0.91613	0.5304	10	0.87932	D	0	.	19.2711	0.94010	0.0:1.0:0.0:0.0	.	87;198;190;198;190	D3DP16;C9JC84;P02679;C9JEU5;P02679-2	.;.;FIBG_HUMAN;.;.	N	190;198;190;198;87;87	ENSP00000384860:S190N;ENSP00000384101:S198N;ENSP00000336829:S190N;ENSP00000384552:S198N;ENSP00000407562:S87N;ENSP00000377429:S87N	ENSP00000336829:S190N	S	-	2	0	FGG	155750329	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	7.559000	0.82265	2.715000	0.92844	0.561000	0.74099	AGC		0.418	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1		NM_021870		26	98	0	0	0	0.099896	0	26	98		
PARP8	79668	broad.mit.edu	37	5	50137809	50137809	+	Silent	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr5:50137809C>T	ENST00000281631.5	+	26	2630	c.2472C>T	c.(2470-2472)gaC>gaT	p.D824D	PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503750.2_Silent_p.D782D|PARP8_ENST00000505554.1_Silent_p.D803D|PARP8_ENST00000514067.2_Silent_p.D782D|PARP8_ENST00000505697.2_Silent_p.D824D	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	824	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.D824D(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GCTATGAAGACGGCCAAGTGG	0.333																																						uc003jon.3		NaN																	2	Substitution - coding silent(2)		urinary_tract(1)|endometrium(1)	lung(3)|large_intestine(1)|ovary(1)	5						c.(2470-2472)GAC>GAT		poly (ADP-ribose) polymerase family, member 8							77.0	74.0	75.0					5																	50137809		2203	4300	6503	SO:0001819	synonymous_variant	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50137809C>T	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.2472C>T	5.37:g.50137809C>T						PARP8_uc011cpz.1_Silent_p.D716D|PARP8_uc003joo.2_Silent_p.D824D|PARP8_uc003jop.2_Silent_p.D782D	p.D824D	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN			27	2654	+		Lung NSC(810;0.0305)|Breast(144;0.222)	824			PARP catalytic.		Q3KRB7|Q6DHZ1|Q9H754	Silent	SNP	ENST00000281631.5	37	c.2472C>T	CCDS3954.1																																																																																				0.333	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3		NM_024615		4	28	0	0	0	0.009096	0	4	28		
MRPS36	92259	broad.mit.edu	37	5	68524147	68524147	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr5:68524147T>C	ENST00000256441.4	+	3	297	c.227T>C	c.(226-228)aTa>aCa	p.I76T	MRPS36_ENST00000512880.1_Missense_Mutation_p.I11T|MRPS36_ENST00000507022.1_3'UTR|MRPS36_ENST00000602380.1_Missense_Mutation_p.I11T	NM_033281.5	NP_150597.1	P82909	RT36_HUMAN	mitochondrial ribosomal protein S36	76					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)	p.I76T(1)		NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1)	7		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)		ACTGCAGAAATAATAAAAACA	0.388																																						uc003jvq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(226-228)ATA>ACA		mitochondrial ribosomal protein S36							116.0	125.0	122.0					5																	68524147		2203	4300	6503	SO:0001583	missense	92259				translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr5:68524147T>C		CCDS34174.1	5q13.2	2013-09-20			ENSG00000134056	ENSG00000134056		"""Mitochondrial ribosomal proteins / small subunits"""	16631	protein-coding gene	gene with protein product		611996				11279123	Standard	NM_033281		Approved	DC47, MRP-S36	uc003jvq.3	P82909	OTTHUMG00000162443	ENST00000256441.4:c.227T>C	5.37:g.68524147T>C	ENSP00000256441:p.Ile76Thr					MRPS36_uc003jvr.2_RNA	p.I76T	NM_033281	NP_150597	P82909	RT36_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)	3	311	+		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	76					Q9H2H4	Missense_Mutation	SNP	ENST00000256441.4	37	c.227T>C	CCDS34174.1	.	.	.	.	.	.	.	.	.	.	T	12.52	1.962260	0.34659	.	.	ENSG00000134056	ENST00000256441;ENST00000512880	.	.	.	5.76	5.76	0.90799	.	0.346611	0.31685	N	0.007238	T	0.40145	0.1105	N	0.14661	0.345	0.34111	D	0.662957	B	0.23185	0.081	B	0.31290	0.127	T	0.50996	-0.8761	9	0.30078	T	0.28	-12.3437	15.0617	0.71961	0.0:0.0:0.0:1.0	.	76	P82909	RT36_HUMAN	T	76;11	.	ENSP00000256441:I76T	I	+	2	0	MRPS36	68559903	1.000000	0.71417	0.934000	0.37439	0.992000	0.81027	5.053000	0.64269	2.200000	0.70718	0.377000	0.23210	ATA		0.388	MRPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368940.1		NM_033281		78	81	0	0	0	0.048971	0	78	81		
PCDHAC2	56134	broad.mit.edu	37	5	140346900	140346900	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr5:140346900G>T	ENST00000289269.5	+	1	1081	c.549G>T	c.(547-549)caG>caT	p.Q183H	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	183	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.Q183H(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCAGTACAGACCTACGAGC	0.607																																					Melanoma(190;638 2083 3390 11909 52360)	uc003lii.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(2)	4						c.(547-549)CAG>CAT		protocadherin alpha subfamily C, 2 isoform 1							27.0	26.0	26.0					5																	140346900		2203	4300	6503	SO:0001583	missense	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140346900G>T	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.549G>T	5.37:g.140346900G>T	ENSP00000289269:p.Gln183His					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.Q183H	p.Q183H	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	789	+			183			Cadherin 2.|Extracellular (Potential).		Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	c.549G>T	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.152919	0.38021	.	.	ENSG00000243232	ENST00000289269	T	0.51325	0.71	5.44	5.44	0.79542	Cadherin (4);Cadherin-like (1);	0.000000	0.39909	N	0.001232	T	0.65533	0.2700	M	0.82193	2.58	0.38673	D	0.952351	B;D	0.63880	0.048;0.993	B;D	0.64321	0.064;0.924	T	0.69884	-0.5024	10	0.44086	T	0.13	.	9.1772	0.37118	0.0763:0.1476:0.7761:0.0	.	183;183	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	H	183	ENSP00000289269:Q183H	ENSP00000289269:Q183H	Q	+	3	2	PCDHAC2	140327084	0.000000	0.05858	1.000000	0.80357	0.961000	0.63080	0.294000	0.19047	2.559000	0.86315	0.561000	0.74099	CAG		0.607	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2		NM_018899		15	14	1	0	3.27435e-08	0.020292	3.73391e-08	15	14		
GABRB2	2561	broad.mit.edu	37	5	160721255	160721255	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr5:160721255G>A	ENST00000393959.1	-	10	1371	c.1372C>T	c.(1372-1374)Cga>Tga	p.R458*	GABRB2_ENST00000274547.2_Nonsense_Mutation_p.R458*|GABRB2_ENST00000353437.6_Nonsense_Mutation_p.R420*|GABRB2_ENST00000517547.1_Nonsense_Mutation_p.R260*|GABRB2_ENST00000520240.1_Nonsense_Mutation_p.R420*|GABRB2_ENST00000517901.1_Nonsense_Mutation_p.R357*			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	458					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)	p.R420*(1)|p.R458*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCCACATGTCGTTCCAGAGCA	0.527																																						uc003lys.1		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)		0						c.(1372-1374)CGA>TGA		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						111.0	99.0	103.0					5																	160721255		2203	4300	6503	SO:0001587	stop_gained	2561				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160721255G>A		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.1372C>T	5.37:g.160721255G>A	ENSP00000377531:p.Arg458*					GABRB2_uc011deh.1_Nonsense_Mutation_p.R259*|GABRB2_uc003lyr.1_Nonsense_Mutation_p.R420*|GABRB2_uc003lyt.1_Nonsense_Mutation_p.R420*|GABRB2_uc010jiu.1_Nonsense_Mutation_p.R357*	p.R458*	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	1590	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	458			Cytoplasmic (Probable).		A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Nonsense_Mutation	SNP	ENST00000393959.1	37	c.1372C>T	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	G	37	6.519484	0.97633	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	.	.	.	5.74	5.74	0.90152	.	0.818520	0.11337	N	0.574403	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.2361	0.82375	0.0:0.0:0.8668:0.1332	.	.	.	.	X	458;458;420;420;357;260	.	ENSP00000274547:R458X	R	-	1	2	GABRB2	160653833	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.516000	0.67055	2.715000	0.92844	0.650000	0.86243	CGA		0.527	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1				41	61	0	0	0	0.104719	0	41	61		
VWA7	80737	broad.mit.edu	37	6	31734406	31734406	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr6:31734406T>C	ENST00000375688.4	-	14	2218	c.2018A>G	c.(2017-2019)gAg>gGg	p.E673G	VWA7_ENST00000375686.3_Missense_Mutation_p.E673G|SAPCD1-AS1_ENST00000419679.1_RNA|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Silent_p.G666G			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	673						extracellular region (GO:0005576)		p.E673G(1)									TCCCACGGGCTCCAAGGGCAC	0.652																																						uc011dog.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(2017-2019)GAG>GGG		G7c protein precursor							48.0	51.0	50.0					6																	31734406		1507	2708	4215	SO:0001583	missense	80737					extracellular region		g.chr6:31734406T>C		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.2018A>G	6.37:g.31734406T>C	ENSP00000364840:p.Glu673Gly					C6orf27_uc003nxd.2_Missense_Mutation_p.E348G	p.E673G	NM_025258	NP_079534	Q9Y334	G7C_HUMAN			14	2256	-			673					A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	37	c.2018A>G	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	T	12.05	1.821550	0.32237	.	.	ENSG00000204396	ENST00000375688;ENST00000375686	T;T	0.15372	2.65;2.43	5.74	3.34	0.38264	.	0.323134	0.29218	N	0.012785	T	0.04227	0.0117	L	0.32530	0.975	0.80722	D	1	B	0.33171	0.4	B	0.30855	0.121	T	0.29941	-0.9995	10	0.33940	T	0.23	-16.2883	5.2089	0.15307	0.0:0.09:0.1828:0.7272	.	673	Q9Y334	G7C_HUMAN	G	673	ENSP00000364840:E673G;ENSP00000364838:E673G	ENSP00000364838:E673G	E	-	2	0	C6orf27	31842385	1.000000	0.71417	0.993000	0.49108	0.104000	0.19210	1.244000	0.32778	0.971000	0.38288	0.460000	0.39030	GAG		0.652	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2		NM_025258		29	56	0	0	0	0.030593	0	29	56		
C2	717	broad.mit.edu	37	6	31901504	31901504	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr6:31901504C>T	ENST00000299367.5	+	4	836	c.560C>T	c.(559-561)tCg>tTg	p.S187L	C2_ENST00000418949.2_Missense_Mutation_p.S187L|CFB_ENST00000456570.1_Missense_Mutation_p.S125L|C2_ENST00000442278.2_Missense_Mutation_p.S55L|CFB_ENST00000556679.1_Missense_Mutation_p.S125L|CFB_ENST00000477310.1_Intron|C2_ENST00000469372.1_Missense_Mutation_p.R19W|C2_ENST00000452323.2_Missense_Mutation_p.S64L	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	187	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.S187L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		ACGGGGTCTTCGGAGCGGGAG	0.647																																						uc011dor.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(373-375)TCG>TTG		complement factor B preproprotein							70.0	62.0	65.0					6																	31901504		1511	2709	4220	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31901504C>T		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.560C>T	6.37:g.31901504C>T	ENSP00000299367:p.Ser187Leu					C2_uc003nyc.2_Missense_Mutation_p.R19W|C2_uc011doo.1_Missense_Mutation_p.R19W|C2_uc011dop.1_Missense_Mutation_p.S64L|C2_uc003nye.3_Missense_Mutation_p.S187L|C2_uc003nyf.2_Missense_Mutation_p.S187L|C2_uc010jtk.2_Missense_Mutation_p.S55L|C2_uc011doq.1_Missense_Mutation_p.S158L|C2_uc003nyg.2_Missense_Mutation_p.S55L	p.S125L	NM_001710	NP_001701	P00751	CFAB_HUMAN			3	638	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	c.374C>T	CCDS4728.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.971|6.971	0.549215|0.549215	0.13374|0.13374	.|.	.|.	ENSG00000166278|ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255	ENST00000469372;ENST00000497706;ENST00000432397;ENST00000383177|ENST00000452323;ENST00000452202;ENST00000299367;ENST00000442278;ENST00000447952;ENST00000418949;ENST00000494905;ENST00000556679;ENST00000456570	D;D|T;T;T;T;T;T;T;T;T	0.91237|0.65364	-2.59;-2.81|-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.49|5.49	-1.64|-1.64	0.08318|0.08318	.|Complement control module (2);Sushi/SCR/CCP (3);	.|1.252050	.|0.06026	.|N	.|0.652240	T|T	0.34629|0.34629	0.0904|0.0904	M|M	0.80982|0.80982	2.52|2.52	0.09310|0.09310	N|N	1|1	B;B|B;B;B;B;B;B;B	0.02656|0.31548	0.0;0.0|0.001;0.033;0.004;0.094;0.057;0.01;0.328	B;B|B;B;B;B;B;B;B	0.01281|0.21360	0.0;0.0|0.002;0.011;0.004;0.018;0.018;0.006;0.034	T|T	0.16600|0.16600	-1.0397|-1.0397	8|10	.|0.27082	.|T	.|0.32	-0.6342|-0.6342	4.9065|4.9065	0.13800|0.13800	0.3643:0.4086:0.0:0.2271|0.3643:0.4086:0.0:0.2271	.|.	19;19|125;158;64;55;55;187;187	B4DQI1;E9PDZ0|B4E1Z4;B4DV48;B4DPF3;E9PFN7;B4DV20;P06681;Q8N6L6	.;.|.;.;.;.;.;CO2_HUMAN;.	W|L	19;19;19;52|64;64;187;55;125;187;46;125;125	ENSP00000418923:R19W;ENSP00000417482:R19W|ENSP00000392322:S64L;ENSP00000406121:S64L;ENSP00000299367:S187L;ENSP00000395683:S55L;ENSP00000391354:S125L;ENSP00000406190:S187L;ENSP00000419048:S46L;ENSP00000451848:S125L;ENSP00000410815:S125L	.|ENSP00000299367:S187L	R|S	+|+	1|2	2|0	C2|CFB;C2;XXbac-BPG116M5.17	32009483|32009483	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.118000|0.118000	0.20060|0.20060	-0.243000|-0.243000	0.08915|0.08915	-0.174000|-0.174000	0.10743|0.10743	-0.231000|-0.231000	0.12243|0.12243	CGG|TCG		0.647	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9				63	74	0	0	0	0.048971	0	63	74		
DLX6	1750	broad.mit.edu	37	7	96636997	96636997	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr7:96636997G>A	ENST00000518156.2	+	2	914	c.484G>A	c.(484-486)Gga>Aga	p.G162R	DLX6_ENST00000555308.1_Missense_Mutation_p.G34R|DLX6_ENST00000007660.5_Missense_Mutation_p.G134R|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS2_ENST00000606174.1_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000437331.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	44					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G134R(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CAGGTTCAATGGAAAAGGGAA	0.478																																						uc003uom.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(400-402)GGA>AGA		distal-less homeobox 6							40.0	41.0	41.0					7																	96636997		1866	4088	5954	SO:0001583	missense	1750				nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:96636997G>A		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"""Homeoboxes / ANTP class : NKL subclass"""	2919	protein-coding gene	gene with protein product		600030	"""distal-less homeo box 6"""			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.484G>A	7.37:g.96636997G>A	ENSP00000428480:p.Gly162Arg					DLX6AS_uc003uol.2_Intron|DLX6AS_uc010lfo.1_Intron	p.G134R	NM_005222	NP_005213	P56179	DLX6_HUMAN			3	400	+	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		44					A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	Missense_Mutation	SNP	ENST00000518156.2	37	c.400G>A	CCDS47647.2	.	.	.	.	.	.	.	.	.	.	G	31	5.071392	0.93950	.	.	ENSG00000006377	ENST00000518156;ENST00000007660;ENST00000555308	D;D;D	0.93426	-3.22;-3.13;-3.05	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.96790	0.8952	M	0.80616	2.505	0.80722	D	1	D	0.60160	0.987	D	0.69142	0.962	D	0.96834	0.9613	10	0.66056	D	0.02	-5.9357	19.6519	0.95819	0.0:0.0:1.0:0.0	.	134	P56179-2	.	R	162;134;34	ENSP00000428480:G162R;ENSP00000007660:G134R;ENSP00000451635:G34R	ENSP00000007660:G134R	G	+	1	0	DLX6	96474933	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.802000	0.99131	2.639000	0.89480	0.561000	0.74099	GGA		0.478	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4		NM_005222		6	21	0	0	0	0.02938	0	6	21		
CSMD1	64478	broad.mit.edu	37	8	3076926	3076926	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr8:3076926T>C	ENST00000520002.1	-	30	5081	c.4526A>G	c.(4525-4527)tAt>tGt	p.Y1509C	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.Y1508C|CSMD1_ENST00000602723.1_Missense_Mutation_p.Y1509C|CSMD1_ENST00000400186.3_Missense_Mutation_p.Y1509C|CSMD1_ENST00000542608.1_Missense_Mutation_p.Y1508C|CSMD1_ENST00000539096.1_Missense_Mutation_p.Y1508C|CSMD1_ENST00000602557.1_Missense_Mutation_p.Y1509C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1509	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.Y1237C(1)|p.Y1508C(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTCCCCTTCATAGATGTGTAG	0.443																																						uc011kwk.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	breast(20)|large_intestine(5)	25						c.(4525-4527)TAT>TGT		CUB and Sushi multiple domains 1 precursor							38.0	40.0	39.0					8																	3076926		1827	4084	5911	SO:0001583	missense	64478					integral to membrane		g.chr8:3076926T>C			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.4526A>G	8.37:g.3076926T>C	ENSP00000430733:p.Tyr1509Cys					CSMD1_uc011kwj.1_Missense_Mutation_p.Y901C|CSMD1_uc003wqe.2_Missense_Mutation_p.Y665C	p.Y1509C	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	29	4916	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1509			Extracellular (Potential).|CUB 9.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.4526A>G		.	.	.	.	.	.	.	.	.	.	T	20.5	3.994681	0.74703	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31	5.48	5.48	0.80851	CUB (5);	0.000000	0.64402	D	0.000001	T	0.72260	0.3438	H	0.96489	3.83	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.987	T	0.81621	-0.0850	10	0.59425	D	0.04	.	15.8642	0.79052	0.0:0.0:0.0:1.0	.	1509;1509;1509	E5RIG2;Q96PZ7;Q96PZ7-4	.;CSMD1_HUMAN;.	C	1509;1509;1371;1508;1508;1508	ENSP00000383047:Y1509C;ENSP00000430733:Y1509C;ENSP00000441462:Y1508C;ENSP00000446243:Y1508C;ENSP00000441675:Y1508C	ENSP00000320445:Y1371C	Y	-	2	0	CSMD1	3064333	1.000000	0.71417	0.866000	0.34008	0.777000	0.43975	7.779000	0.85648	2.199000	0.70637	0.454000	0.30748	TAT		0.443	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2		NM_033225		4	8	0	0	0	0.009096	0	4	8		
CSMD3	114788	broad.mit.edu	37	8	113668395	113668395	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr8:113668395T>A	ENST00000297405.5	-	18	3236	c.2992A>T	c.(2992-2994)Att>Ttt	p.I998F	CSMD3_ENST00000455883.2_Missense_Mutation_p.I894F|CSMD3_ENST00000352409.3_Missense_Mutation_p.I998F|CSMD3_ENST00000343508.3_Missense_Mutation_p.I958F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	998	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I998F(1)|p.I958F(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						TCATAATGAATCTTGAAACCA	0.308										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NaN																	2	Substitution - Missense(2)		urinary_tract(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.(2992-2994)ATT>TTT		CUB and Sushi multiple domains 3 isoform 1							56.0	62.0	60.0					8																	113668395		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113668395T>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.2992A>T	8.37:g.113668395T>A	ENSP00000297405:p.Ile998Phe	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.I270F|CSMD3_uc003ynt.2_Missense_Mutation_p.I958F|CSMD3_uc011lhx.1_Missense_Mutation_p.I894F	p.I998F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			18	3151	-			998			Extracellular (Potential).|CUB 5.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.2992A>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	16.48	3.136124	0.56936	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11	5.28	4.09	0.47781	CUB (5);	0.000000	0.64402	D	0.000001	T	0.63022	0.2476	L	0.45285	1.41	0.37676	D	0.923295	D;D;D	0.69078	0.991;0.993;0.997	P;D;D	0.73708	0.878;0.925;0.981	T	0.60989	-0.7153	10	0.09590	T	0.72	.	11.6645	0.51366	0.133:0.0:0.0:0.867	.	894;998;958	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	F	958;998;338;894;998	ENSP00000345799:I958F;ENSP00000297405:I998F;ENSP00000341558:I338F;ENSP00000412263:I894F;ENSP00000343124:I998F	ENSP00000297405:I998F	I	-	1	0	CSMD3	113737571	1.000000	0.71417	1.000000	0.80357	0.399000	0.30720	6.161000	0.71868	0.904000	0.36572	0.455000	0.32223	ATT		0.308	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		NM_052900		14	68	0	0	0	0.020292	0	14	68		
CSMD3	114788	broad.mit.edu	37	8	113678640	113678640	+	Silent	SNP	T	T	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr8:113678640T>A	ENST00000297405.5	-	17	2926	c.2682A>T	c.(2680-2682)ccA>ccT	p.P894P	CSMD3_ENST00000455883.2_Silent_p.P790P|CSMD3_ENST00000352409.3_Silent_p.P894P|CSMD3_ENST00000343508.3_Silent_p.P854P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	894						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P894P(1)|p.P854P(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						GGCCACCACATGGGGCTGAAA	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(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.(2680-2682)CCA>CCT		CUB and Sushi multiple domains 3 isoform 1							44.0	42.0	43.0					8																	113678640		2203	4299	6502	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113678640T>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.2682A>T	8.37:g.113678640T>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.P166P|CSMD3_uc003ynt.2_Silent_p.P854P|CSMD3_uc011lhx.1_Silent_p.P790P	p.P894P	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			17	2841	-			894			Extracellular (Potential).		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.2682A>T	CCDS6315.1																																																																																				0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		NM_052900		10	20	0	0	0	0.080935	0	10	20		
HSF1	3297	broad.mit.edu	37	8	145533230	145533230	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr8:145533230C>T	ENST00000528838.1	+	3	476	c.316C>T	c.(316-318)Cgt>Tgt	p.R106C	HSF1_ENST00000400780.4_Missense_Mutation_p.R41C	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	106					cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R106C(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			ATGCTTCCTGCGTGGCCAGGA	0.612																																						uc003zbt.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(316-318)CGT>TGT		heat shock transcription factor 1							121.0	120.0	120.0					8																	145533230		2203	4296	6499	SO:0001583	missense	3297					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:145533230C>T	M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.316C>T	8.37:g.145533230C>T	ENSP00000431512:p.Arg106Cys					HSF1_uc003zbu.3_RNA	p.R106C	NM_005526	NP_005517	Q00613	HSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)		3	486	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		106			By similarity.		A8K4L0|A8MW26|Q53XT4	Missense_Mutation	SNP	ENST00000528838.1	37	c.316C>T	CCDS6419.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561092	0.86335	.	.	ENSG00000185122	ENST00000528838;ENST00000533240;ENST00000400780	D;D;D	0.92149	-2.98;-2.98;-2.98	5.47	4.6	0.57074	Winged helix-turn-helix transcription repressor DNA-binding (1);Heat shock factor (HSF)-type, DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.96756	0.8941	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97146	0.9828	10	0.87932	D	0	-23.8675	12.0236	0.53358	0.0:0.9162:0.0:0.0837	.	106	Q00613	HSF1_HUMAN	C	106;41;41	ENSP00000431512:R106C;ENSP00000436616:R41C;ENSP00000383590:R41C	ENSP00000383590:R41C	R	+	1	0	HSF1	145504038	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	4.972000	0.63756	1.324000	0.45282	0.645000	0.84053	CGT		0.612	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1		NM_005526		62	109	0	0	0	0.048971	0	62	109		
OR2T35	403244	broad.mit.edu	37	1	248801602	248801603	+	Frame_Shift_Ins	INS	-	-	CA	rs370874670|rs375058001		TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr1:248801602_248801603insCA	ENST00000317450.3	-	1	956_957	c.957_958insTG	c.(955-960)gtgatcfs	p.I320fs		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	320						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I320fs*1(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCTTCCTGATCACAGTCGCCA	0.545																																						uc001ies.1		NaN																	1	Insertion - Frameshift(1)		prostate(1)		0						c.(955-960)GTGATCfs		olfactory receptor, family 2, subfamily T,																																				SO:0001589	frameshift_variant	403244				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248801602_248801603insCA	BK004475	CCDS31123.1	1q44	2012-08-09			ENSG00000177151	ENSG00000177151		"""GPCR / Class A : Olfactory receptors"""	31257	protein-coding gene	gene with protein product							Standard	NM_001001827		Approved		uc001ies.1	Q8NGX2	OTTHUMG00000040380	ENST00000317450.3:c.956_957dupTG	1.37:g.248801605_248801606dupCA	ENSP00000324369:p.Ile320fs						p.V319fs	NM_001001827	NP_001001827	Q8NGX2	O2T35_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	957_958	-	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	319_320			Cytoplasmic (Potential).		Q6IEY7	Frame_Shift_Ins	INS	ENST00000317450.3	37	c.957_958insTG	CCDS31123.1																																																																																				0.545	OR2T35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097130.1		NM_001001827		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
DHRS11	79154	broad.mit.edu	37	17	34958251	34958281	+	IGR	DEL	CTCGACCGTCCGGGGCGCGACCTGGGGTCGC	CTCGACCGTCCGGGGCGCGACCTGGGGTCGC	-	rs372363506|rs200927938|rs141604685		TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr17:34958251_34958281delCTCGACCGTCCGGGGCGCGACCTGGGGTCGC	ENST00000251312.5	+	0	1598				MRM1_ENST00000585770.1_5'Flank|MRM1_ENST00000250156.7_Frame_Shift_Del_p.LSTVRGATWGR4fs	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11							extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(4)	5						TGGCATTGCTCTCGACCGTCCGGGGCGCGACCTGGGGTCGCCTCGTCACCC	0.697																																						uc002hne.2		NaN																	0					0						c.(10-42)CTCTCGACCGTCCGGGGCGCGACCTGGGGTCGCfs		mitochondrial rRNA methyltransferase 1 homolog																																				SO:0001628	intergenic_variant	79922				RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity	g.chr17:34958251_34958281delCTCGACCGTCCGGGGCGCGACCTGGGGTCGC		CCDS11315.2	17q12	2014-05-06			ENSG00000108272	ENSG00000278535		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	28639	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 24C, member 1"""					12975309, 19027726	Standard	NM_024308		Approved	MGC4172, SDR24C1	uc002hnd.3	Q6UWP2	OTTHUMG00000188442		17.37:g.34958251_34958281delCTCGACCGTCCGGGGCGCGACCTGGGGTCGC						MRM1_uc002hnf.2_5'Flank	p.L4fs	NM_024864	NP_079140	Q6IN84	MRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	1	227_257	+		Breast(25;0.00957)|Ovarian(249;0.17)	4_14					B2RDZ3|Q9BUC7|Q9H674	Frame_Shift_Del	DEL	ENST00000251312.5	37	c.12_42delCTCGACCGTCCGGGGCGCGACCTGGGGTCGC	CCDS11315.2																																																																																				0.697	DHRS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256681.2		NM_024308		14	97	NaN	NaN	NaN	NaN	NaN	14	97	---	---
SCN2A	6326	broad.mit.edu	37	2	166237618	166237619	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr2:166237618_166237619insT	ENST00000375437.2	+	25	4752_4753	c.4462_4463insT	c.(4462-4464)attfs	p.I1488fs	SCN2A_ENST00000357398.3_Frame_Shift_Ins_p.I1488fs|SCN2A_ENST00000375427.2_Frame_Shift_Ins_p.I1488fs|SCN2A_ENST00000283256.6_Frame_Shift_Ins_p.I1488fs	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1488					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGGTCAAGACATTTTTATGACA	0.347																																						uc002udc.2		NaN																	0				ovary(6)|breast(1)|pancreas(1)	8						c.(4462-4464)ATTfs		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)																																			SO:0001589	frameshift_variant	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166237618_166237619insT	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4467dupT	2.37:g.166237623_166237623dupT	ENSP00000364586:p.Ile1488fs					SCN2A_uc002udd.2_Frame_Shift_Ins_p.I1488fs|SCN2A_uc002ude.2_Frame_Shift_Ins_p.I1488fs	p.I1488fs	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			25	4752_4753	+			1488			III.		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Frame_Shift_Ins	INS	ENST00000375437.2	37	c.4462_4463insT	CCDS33314.1																																																																																				0.347	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2		NM_021007		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
DOPEY1	23033	broad.mit.edu	37	6	83818634	83818650	+	Frame_Shift_Del	DEL	GATTATTTCCTCTTCTT	GATTATTTCCTCTTCTT	-			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr6:83818634_83818650delGATTATTTCCTCTTCTT	ENST00000349129.2	+	5	586_602	c.326_342delGATTATTTCCTCTTCTT	c.(325-342)ggattatttcctcttcttfs	p.GLFPLL109fs	DOPEY1_ENST00000369739.3_Frame_Shift_Del_p.GLFPLL109fs|DOPEY1_ENST00000536812.1_Frame_Shift_Del_p.GLFPLL109fs|DOPEY1_ENST00000237163.5_Frame_Shift_Del_p.GLFPLL109fs	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	109					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AATAGTTCTGGATTATTTCCTCTTCTTGCAAATGCTG	0.318																																						uc003pjs.1		NaN																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(325-342)GGATTATTTCCTCTTCTTfs		dopey family member 1																																				SO:0001589	frameshift_variant	23033				protein transport			g.chr6:83818634_83818650delGATTATTTCCTCTTCTT	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.326_342delGATTATTTCCTCTTCTT	6.37:g.83818634_83818650delGATTATTTCCTCTTCTT	ENSP00000195654:p.Gly109fs					DOPEY1_uc011dyy.1_Frame_Shift_Del_p.G109fs|DOPEY1_uc010kbl.1_Frame_Shift_Del_p.G109fs	p.G109fs	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	5	586_602	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	109_114					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Frame_Shift_Del	DEL	ENST00000349129.2	37	c.326_342delGATTATTTCCTCTTCTT	CCDS4996.1																																																																																				0.318	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2		NM_015018		14	110	NaN	NaN	NaN	NaN	NaN	14	110	---	---
TCP10L2	401285	broad.mit.edu	37	6	167590551	167590552	+	Frame_Shift_Ins	INS	-	-	C	rs201760687	byFrequency	TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr6:167590551_167590552insC	ENST00000366832.2	+	4	558_559	c.427_428insC	c.(427-429)gctfs	p.A143fs		NM_001145121.1	NP_001138593.1	B9ZVM9	TCP2L_HUMAN	t-complex 10-like 2	143										endometrium(1)|kidney(2)|lung(3)	6						GCCCAAATACGCTGGCCGCAAG	0.465																																						uc010kkp.2		NaN																	0					0						c.(427-429)GCTfs		t-complex 10-like 2																																				SO:0001589	frameshift_variant	401285							g.chr6:167590551_167590552insC		CCDS47514.1	6q27	2012-09-20	2012-09-20		ENSG00000166984	ENSG00000166984			21254	protein-coding gene	gene with protein product			"""t-complex 10-like 2 (mouse)"""				Standard	NM_001145121		Approved	bA517H2.3	uc010kkp.3	B9ZVM9	OTTHUMG00000016014	ENST00000366832.2:c.428dupC	6.37:g.167590552_167590552dupC	ENSP00000355797:p.Ala143fs						p.A143fs	NM_001145121	NP_001138593	B9ZVM9	B9ZVM9_HUMAN			4	558_559	+			143						Frame_Shift_Ins	INS	ENST00000366832.2	37	c.427_428insC	CCDS47514.1																																																																																				0.465	TCP10L2-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043112.5		XR_040749		21	197	NaN	NaN	NaN	NaN	NaN	21	197	---	---
TCP10	6953	broad.mit.edu	37	6	167791512	167791513	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr6:167791512_167791513insG	ENST00000397829.4	-	4	514_515	c.347_348insC	c.(346-348)gctfs	p.A116fs	TCP10_ENST00000366827.2_Frame_Shift_Ins_p.A116fs	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	143						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		TCTTGCGGCCAGCGTATTTGGG	0.46																																						uc003qvv.1		NaN																	0				breast(1)	1						c.(346-348)GCTfs		t-complex 10																																				SO:0001589	frameshift_variant	6953					cytosol		g.chr6:167791512_167791513insG	U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"""t-complex 10 (a murine tcp homolog)"", ""t-complex 10 (mouse)"", ""t-complex 10 homolog (mouse)"""			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.348dupC	6.37:g.167791513_167791513dupG	ENSP00000380929:p.Ala116fs					TCP10_uc003qvu.2_Frame_Shift_Ins_p.A116fs|TCP10_uc003qvw.2_Frame_Shift_Ins_p.A92fs	p.A116fs	NM_004610	NP_004601	Q12799	TCP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)	4	559_560	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	143					Q5JR60|Q6P4F4	Frame_Shift_Ins	INS	ENST00000397829.4	37	c.347_348insC	CCDS43527.1																																																																																				0.460	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365570.1		NM_004610		7	122	NaN	NaN	NaN	NaN	NaN	7	122	---	---
CCDC136	64753	broad.mit.edu	37	7	128434455	128434457	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr7:128434455_128434457delGAA	ENST00000297788.4	+	2	437_439	c.70_72delGAA	c.(70-72)gaadel	p.E26del	CCDC136_ENST00000464832.1_In_Frame_Del_p.E76del|CCDC136_ENST00000487361.1_In_Frame_Del_p.E26del|CCDC136_ENST00000378685.4_In_Frame_Del_p.E76del	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	26	Glu-rich.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						ggaagaggaggaagaagaggtgg	0.532																																						uc003vnv.1		NaN																	0				ovary(2)	2						c.(70-72)GAAdel		coiled-coil domain containing 136			,	36,4142		2,32,2055					,	-6.0	0.0			22	8,8070		4,0,4035	no	coding,coding	CCDC136	NM_022742.4,NM_001201372.1	,	6,32,6090	A1A1,A1R,RR		0.099,0.8617,0.359	,	,		44,12212				SO:0001651	inframe_deletion	64753					integral to membrane	protein binding	g.chr7:128434455_128434457delGAA		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.70_72delGAA	7.37:g.128434458_128434460delGAA	ENSP00000297788:p.Glu26del					CCDC136_uc003vnu.1_In_Frame_Del_p.E76del|CCDC136_uc003vnw.1_In_Frame_Del_p.E26del	p.E26del	NM_022742	NP_073579	Q96JN2	CC136_HUMAN			2	437_439	+			26			Glu-rich.		A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	In_Frame_Del	DEL	ENST00000297788.4	37	c.70_72delGAA	CCDS47704.1																																																																																				0.532	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1		NM_022742		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
KDM6A	7403	broad.mit.edu	37	X	44896934	44896934	+	Splice_Site	DEL	G	G	-			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chrX:44896934delG	ENST00000377967.4	+	8	695	c.654delG	c.(652-654)cag>ca	p.Q218fs	KDM6A_ENST00000536777.1_Splice_Site_p.Q218fs|KDM6A_ENST00000382899.4_Splice_Site_p.Q218fs|KDM6A_ENST00000543216.1_Splice_Site_p.Q218fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	218	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0(12)|p.0?(6)|p.?(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ATGAAACCCAGGTAAGTATTT	0.303			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NaN		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		19	No detectable mRNA/protein(12)|Whole gene deletion(6)|Unknown(1)	p.0(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(11)|oesophagus(4)|breast(2)|pancreas(2)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(652-654)CAGfs		ubiquitously transcribed tetratricopeptide							101.0	96.0	98.0					X																	44896934		2202	4297	6499	SO:0001630	splice_region_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44896934delG	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.654+1G>-	X.37:g.44896934delG						KDM6A_uc010nhk.2_Frame_Shift_Del_p.Q218fs|KDM6A_uc011mkz.1_Frame_Shift_Del_p.Q218fs|KDM6A_uc011mla.1_Frame_Shift_Del_p.Q218fs|KDM6A_uc011mlb.1_Frame_Shift_Del_p.Q218fs|KDM6A_uc011mlc.1_5'UTR	p.Q218fs	NM_021140	NP_066963	O15550	KDM6A_HUMAN			8	1029	+			218			TPR 4.		Q52LL9|Q5JVQ7	Frame_Shift_Del	DEL	ENST00000377967.4	37	c.654delG	CCDS14265.1																																																																																				0.303	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1		NM_021140	Frame_Shift_Del	23	24	NaN	NaN	NaN	NaN	NaN	23	24	---	---
