#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ACVR2A	92	broad.mit.edu	37	2	148683679	148683679	+	Silent	SNP	T	T	A			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr2:148683679T>A	ENST00000241416.7	+	10	1932	c.1296T>A	c.(1294-1296)gtT>gtA	p.V432V	ACVR2A_ENST00000495775.1_3'UTR|ACVR2A_ENST00000404590.1_Silent_p.V432V|ACVR2A_ENST00000535787.1_Silent_p.V324V	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	432	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		AGGAAGTTGTTGTGCATAAAA	0.353																																						ENST00000241416.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45						c.(1294-1296)gtT>gtA		activin A receptor, type IIA							170.0	140.0	150.0					2																	148683679		2203	4299	6502	SO:0001819	synonymous_variant	92				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr2:148683679T>A		CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.1296T>A	2.37:g.148683679T>A						ACVR2A_ENST00000404590.1_Silent_p.V432V|ACVR2A_ENST00000495775.1_3'UTR|ACVR2A_ENST00000535787.1_Silent_p.V324V	p.V432V	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0969)	10	1932	+			432			Protein kinase.		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Silent	SNP	ENST00000241416.7	37	c.1296T>A	CCDS33301.1																																																																																				0.353	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		12	184	0	0	0	1	0	12	184				
VMP1	81671	broad.mit.edu	37	17	57842439	57842439	+	Silent	SNP	T	T	G			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr17:57842439T>G	ENST00000262291.4	+	6	832	c.522T>G	c.(520-522)acT>acG	p.T174T	VMP1_ENST00000536180.1_Silent_p.T77T|VMP1_ENST00000539763.1_5'UTR|VMP1_ENST00000537567.1_Silent_p.T40T|VMP1_ENST00000545362.1_Intron	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	174					autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						AAGAGGGCACTGAAGGAACCA	0.373																																						ENST00000262291.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						c.(520-522)acT>acG		vacuole membrane protein 1							152.0	142.0	145.0					17																	57842439		2203	4300	6503	SO:0001819	synonymous_variant	81671				autophagy|cell adhesion	endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane		g.chr17:57842439T>G		CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716			29559	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 3 homolog (C. elegans)"", ""transport and golgi organization 5 homolog (Drosophila)"""	611753	"""transmembrane protein 49"""	TMEM49		11230166, 11785947	Standard	NM_030938		Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	ENST00000262291.4:c.522T>G	17.37:g.57842439T>G						VMP1_ENST00000539763.1_5'UTR|VMP1_ENST00000545362.1_Intron|VMP1_ENST00000537567.1_Silent_p.T40T|VMP1_ENST00000536180.1_Silent_p.T77T	p.T174T	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN			6	832	+			174					B4DVV9|Q9H0P4|Q9P089	Silent	SNP	ENST00000262291.4	37	c.522T>G	CCDS11619.1																																																																																				0.373	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448793.1	NM_030938		8	86	0	0	0	1	0	8	86				
EFCAB3	146779	broad.mit.edu	37	17	60483903	60483903	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr17:60483903G>T	ENST00000305286.3	+	7	629	c.551G>T	c.(550-552)gGc>gTc	p.G184V	EFCAB3_ENST00000450662.2_Missense_Mutation_p.G236V	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	184							calcium ion binding (GO:0005509)			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			TACACTATGGGCTATGGAAAA	0.408																																						ENST00000450662.2																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17						c.(706-708)gGc>gTc		EF-hand calcium binding domain 3							63.0	57.0	59.0					17																	60483903		2203	4300	6503	SO:0001583	missense	146779						calcium ion binding	g.chr17:60483903G>T	AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"""EF-hand domain containing"""	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.551G>T	17.37:g.60483903G>T	ENSP00000302649:p.Gly184Val					EFCAB3_ENST00000305286.3_Missense_Mutation_p.G184V	p.G236V	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	BRCA - Breast invasive adenocarcinoma(2;2.27e-11)		9	778	+			184					J3KQM8	Missense_Mutation	SNP	ENST00000305286.3	37	c.707G>T	CCDS11632.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.545142	0.27652	.	.	ENSG00000172421	ENST00000450662;ENST00000305286	T;T	0.58940	0.3;0.32	4.95	-1.46	0.08800	.	0.896444	0.09584	N	0.782378	T	0.45418	0.1341	M	0.65498	2.005	0.27162	N	0.961145	P	0.44877	0.845	B	0.33750	0.169	T	0.40739	-0.9547	10	0.59425	D	0.04	.	4.6346	0.12518	0.4775:0.1641:0.3584:0.0	.	184	Q8N7B9	EFCB3_HUMAN	V	236;184	ENSP00000403932:G236V;ENSP00000302649:G184V	ENSP00000302649:G184V	G	+	2	0	EFCAB3	57837635	0.422000	0.25473	0.119000	0.21687	0.026000	0.11368	-0.090000	0.11163	-0.404000	0.07610	0.591000	0.81541	GGC		0.408	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379114.1	NM_173503		21	31	1	0	1.01871e-10	1	1.09707e-10	21	31				
YTHDF1	54915	broad.mit.edu	37	20	61834477	61834477	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr20:61834477C>T	ENST00000370339.3	-	4	1156	c.815G>A	c.(814-816)gGc>gAc	p.G272D	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Missense_Mutation_p.G222D	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	272	Gln/Pro-rich.						N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)	p.G90D(1)|p.G272D(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						ATCCCAGGTGCCAATGTCCAT	0.612																																						ENST00000370339.3																			2	Substitution - Missense(2)	p.G90D(1)|p.G272D(1)	endometrium(2)	NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						c.(814-816)gGc>gAc		YTH domain family, member 1							72.0	82.0	78.0					20																	61834477		2202	4299	6501	SO:0001583	missense	54915							g.chr20:61834477C>T	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.815G>A	20.37:g.61834477C>T	ENSP00000359364:p.Gly272Asp					YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Missense_Mutation_p.G222D	p.G272D	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN			4	1156	-			272			Gln/Pro-rich.		Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Missense_Mutation	SNP	ENST00000370339.3	37	c.815G>A	CCDS13511.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515115	0.44763	.	.	ENSG00000149658	ENST00000370339;ENST00000370333;ENST00000342761	T;T	0.47869	0.83;0.83	5.15	4.21	0.49690	.	0.045465	0.85682	D	0.000000	T	0.39306	0.1073	L	0.41415	1.275	0.80722	D	1	P	0.35959	0.53	B	0.33339	0.162	T	0.36962	-0.9726	10	0.62326	D	0.03	-26.6943	13.8159	0.63292	0.0:0.9257:0.0:0.0743	.	272	Q9BYJ9	YTHD1_HUMAN	D	272;222;88	ENSP00000359364:G272D;ENSP00000359358:G222D	ENSP00000339489:G88D	G	-	2	0	YTHDF1	61304922	1.000000	0.71417	0.995000	0.50966	0.889000	0.51656	5.958000	0.70330	1.168000	0.42723	0.491000	0.48974	GGC		0.612	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		55	97	0	0	0	1	0	55	97				
FAM172A	83989	broad.mit.edu	37	5	92956791	92956791	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr5:92956791T>G	ENST00000395965.3	-	11	1295	c.1153A>C	c.(1153-1155)Att>Ctt	p.I385L	FAM172A_ENST00000509163.1_Missense_Mutation_p.I339L|FAM172A_ENST00000505869.1_Missense_Mutation_p.I275L|MIR2277_ENST00000515916.1_RNA|FAM172A_ENST00000509739.1_Missense_Mutation_p.I238L	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	385						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						AATTTGAAAATAGACGGAAAG	0.577																																						ENST00000395965.3																			0				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(1153-1155)Att>Ctt		family with sequence similarity 172, member A							60.0	62.0	62.0					5																	92956791		2203	4300	6503	SO:0001583	missense	83989					endoplasmic reticulum|extracellular region		g.chr5:92956791T>G		CCDS4069.1, CCDS54879.1, CCDS54880.1	5q15	2008-06-16	2008-06-16	2008-06-16	ENSG00000113391	ENSG00000113391			25365	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 21"""	C5orf21		11230166	Standard	NM_032042		Approved	DKFZP564D172	uc010jbd.3	Q8WUF8	OTTHUMG00000131329	ENST00000395965.3:c.1153A>C	5.37:g.92956791T>G	ENSP00000379294:p.Ile385Leu					FAM172A_ENST00000505869.1_Missense_Mutation_p.I275L|FAM172A_ENST00000509739.1_Missense_Mutation_p.I238L|FAM172A_ENST00000509163.1_Missense_Mutation_p.I339L	p.I385L	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN			11	1295	-			385					B2R7C6|B4DJ14|B4DLG5|Q9H0U8	Missense_Mutation	SNP	ENST00000395965.3	37	c.1153A>C	CCDS4069.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.860687	0.51482	.	.	ENSG00000113391	ENST00000395965;ENST00000505869;ENST00000509739;ENST00000509163	T;T	0.57752	0.38;0.4	3.3	3.3	0.37823	.	0.241923	0.33161	N	0.005208	T	0.40067	0.1102	L	0.42529	1.33	0.50632	D	0.999881	B;B;B	0.30584	0.194;0.194;0.286	B;B;B	0.28553	0.038;0.091;0.071	T	0.30621	-0.9972	10	0.38643	T	0.18	-13.3264	7.9391	0.29948	0.0:0.1068:0.0:0.8932	.	238;275;385	B4DMI0;B4DJ14;Q8WUF8	.;.;F172A_HUMAN	L	385;275;238;339	ENSP00000379294:I385L;ENSP00000423841:I339L	ENSP00000379294:I385L	I	-	1	0	FAM172A	92982547	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	3.916000	0.56416	1.488000	0.48433	0.397000	0.26171	ATT		0.577	FAM172A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254100.3	NM_032042		22	34	0	0	0	1	0	22	34				
USP12	219333	broad.mit.edu	37	13	27664046	27664046	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr13:27664046A>C	ENST00000282344.6	-	6	964	c.708T>G	c.(706-708)tgT>tgG	p.C236W		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	236	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		GTTTGCTGCGACACTCTTCAC	0.348																																					Ovarian(37;808 911 7590 44442 44991)	ENST00000282344.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(706-708)tgT>tgG		ubiquitin specific peptidase 12							67.0	65.0	66.0					13																	27664046		2203	4300	6503	SO:0001583	missense	219333				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr13:27664046A>C	AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"""Ubiquitin-specific peptidases"""	20485	protein-coding gene	gene with protein product			"""ubiquitin specific protease 12 like 1"", ""ubiquitin specific protease 12"""	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.708T>G	13.37:g.27664046A>C	ENSP00000282344:p.Cys236Trp						p.C236W	NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)	6	964	-		Lung SC(185;0.0161)	236					A8K0X0|Q5VZV3|Q8TC49	Missense_Mutation	SNP	ENST00000282344.6	37	c.708T>G	CCDS31952.1	.	.	.	.	.	.	.	.	.	.	A	17.50	3.404946	0.62288	.	.	ENSG00000152484	ENST00000282344	T	0.10763	2.84	5.22	1.42	0.22433	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.47746	0.1462	H	0.99535	4.615	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.57283	-0.7838	10	0.87932	D	0	-14.696	8.8769	0.35352	0.7787:0.0:0.2213:0.0	.	236	O75317	UBP12_HUMAN	W	236	ENSP00000282344:C236W	ENSP00000282344:C236W	C	-	3	2	USP12	26562046	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.933000	0.28897	0.085000	0.17107	0.482000	0.46254	TGT		0.348	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044264.1	NM_182488		15	34	0	0	0	1	0	15	34				
ACVR2A	92	broad.mit.edu	37	2	148683678	148683678	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr2:148683678T>G	ENST00000241416.7	+	10	1931	c.1295T>G	c.(1294-1296)gTt>gGt	p.V432G	ACVR2A_ENST00000495775.1_3'UTR|ACVR2A_ENST00000404590.1_Missense_Mutation_p.V432G|ACVR2A_ENST00000535787.1_Missense_Mutation_p.V324G	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	432	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		CAGGAAGTTGTTGTGCATAAA	0.353																																						ENST00000241416.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45						c.(1294-1296)gTt>gGt		activin A receptor, type IIA							172.0	142.0	152.0					2																	148683678		2203	4299	6502	SO:0001583	missense	92				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr2:148683678T>G		CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.1295T>G	2.37:g.148683678T>G	ENSP00000241416:p.Val432Gly					ACVR2A_ENST00000404590.1_Missense_Mutation_p.V432G|ACVR2A_ENST00000495775.1_3'UTR|ACVR2A_ENST00000535787.1_Missense_Mutation_p.V324G	p.V432G	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0969)	10	1931	+			432			Protein kinase.		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	ENST00000241416.7	37	c.1295T>G	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.572678	0.86542	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	T;T;T	0.68181	-0.31;-0.31;-0.31	5.16	5.16	0.70880	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84692	0.5528	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88155	0.2853	10	0.87932	D	0	.	15.1659	0.72825	0.0:0.0:0.0:1.0	.	432	P27037	AVR2A_HUMAN	G	432;324;432	ENSP00000241416:V432G;ENSP00000439988:V324G;ENSP00000384338:V432G	ENSP00000241416:V432G	V	+	2	0	ACVR2A	148400148	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.868000	0.87116	2.166000	0.68216	0.477000	0.44152	GTT		0.353	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		13	183	0	0	0	1	0	13	183				
CROCCP2	84809	broad.mit.edu	37	1	16959603	16959603	+	lincRNA	SNP	G	G	A			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr1:16959603G>A	ENST00000412962.1	-	0	74							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CTGCAGTGACGCCTGCCTCAT	0.602																																						ENST00000412962.1																			0																																																			0							g.chr1:16959603G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16959603G>A														0	74	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.602	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	30	0	0	0	1	0	4	30				
IGSF5	150084	broad.mit.edu	37	21	41143130	41143130	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr21:41143130C>T	ENST00000380588.4	+	4	809	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	236					single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.R236W(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				CACTGTGATTCGGTGTCCCCA	0.468																																						ENST00000380588.4																			1	Substitution - Missense(1)	p.R236W(1)	large_intestine(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23						c.(706-708)Cgg>Tgg		immunoglobulin superfamily, member 5							70.0	71.0	71.0					21																	41143130		2203	4300	6503	SO:0001583	missense	150084					integral to membrane|tight junction		g.chr21:41143130C>T		CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5952	protein-coding gene	gene with protein product	"""junctional adhesion molecule 4"""	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.706C>T	21.37:g.41143130C>T	ENSP00000369962:p.Arg236Trp					IGSF5_ENST00000479378.1_3'UTR	p.R236W	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN			4	809	+		Prostate(19;5.35e-06)	236						Missense_Mutation	SNP	ENST00000380588.4	37	c.706C>T	CCDS33562.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.724611	0.30593	.	.	ENSG00000183067	ENST00000380588	T	0.09538	2.97	5.0	3.0	0.34707	.	1.117700	0.06543	N	0.743558	T	0.11922	0.0290	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	P	0.58577	0.841	T	0.38023	-0.9680	10	0.37606	T	0.19	-0.7271	6.9174	0.24367	0.243:0.5837:0.1734:0.0	.	236	Q9NSI5	IGSF5_HUMAN	W	236	ENSP00000369962:R236W	ENSP00000369962:R236W	R	+	1	2	IGSF5	40065000	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.406000	0.21032	1.406000	0.46857	0.655000	0.94253	CGG		0.468	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1			5	85	0	0	0	1	0	5	85				
CALCRL	10203	broad.mit.edu	37	2	188216844	188216844	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr2:188216844G>T	ENST00000409998.1	-	14	1906	c.1125C>A	c.(1123-1125)ttC>ttA	p.F375L	CALCRL_ENST00000392370.3_Missense_Mutation_p.F375L|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.F375L			Q16602	CALRL_HUMAN	calcitonin receptor-like	375					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)			endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			GCCATACCTGGAAGTGCATAA	0.398																																						ENST00000409998.1																			0				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32						c.(1123-1125)ttC>ttA		calcitonin receptor-like							88.0	79.0	82.0					2																	188216844		2203	4299	6502	SO:0001583	missense	10203					integral to plasma membrane		g.chr2:188216844G>T	U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"""GPCR / Class B : Calcitonin receptors"""	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.1125C>A	2.37:g.188216844G>T	ENSP00000386972:p.Phe375Leu					AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.F375L|CALCRL_ENST00000410068.1_Missense_Mutation_p.F375L|AC007319.1_ENST00000453517.1_RNA	p.F375L			Q16602	CALRL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)		14	1906	-			375					A8K6G5|A8KAD3|Q53S02|Q53TS5	Missense_Mutation	SNP	ENST00000409998.1	37	c.1125C>A	CCDS2293.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.539377	0.45176	.	.	ENSG00000064989	ENST00000392370;ENST00000409998;ENST00000410068	T;T;T	0.41400	1.0;1.0;1.0	4.62	-6.88	0.01665	GPCR, family 2-like (1);	0.443892	0.20823	N	0.085038	T	0.35098	0.0920	L	0.56124	1.755	0.40399	D	0.979629	B	0.10296	0.003	B	0.18871	0.023	T	0.03945	-1.0990	10	0.66056	D	0.02	.	16.645	0.85174	0.2601:0.0:0.7399:0.0	.	375	Q16602	CALRL_HUMAN	L	375	ENSP00000376177:F375L;ENSP00000386972:F375L;ENSP00000387190:F375L	ENSP00000376177:F375L	F	-	3	2	CALCRL	187925089	0.728000	0.28080	0.101000	0.21167	0.854000	0.48673	-0.043000	0.12043	-1.484000	0.01856	-0.355000	0.07637	TTC		0.398	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334648.1	NM_005795		37	32	1	0	1.22674e-20	1	1.34701e-20	37	32				
RP11-93K22.13	0	broad.mit.edu	37	3	129811972	129811972	+	lincRNA	SNP	G	G	C			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr3:129811972G>C	ENST00000514010.1	-	0	157				ALG1L2_ENST00000507643.1_RNA																							TTGACGGACAGAACCTTCCTT	0.408																																						ENST00000514010.1																			0																				81.0	64.0	69.0					3																	129811972		692	1591	2283			0							g.chr3:129811972G>C																													3.37:g.129811972G>C						ALG1L2_ENST00000507643.1_RNA								0	157	-									RNA	SNP	ENST00000514010.1	37																																																																																						0.408	RP11-93K22.13-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000358040.1			3	85	0	0	0	1	0	3	85				
MPI	4351	broad.mit.edu	37	15	75183769	75183769	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr15:75183769G>A	ENST00000352410.4	+	3	261	c.194G>A	c.(193-195)cGc>cAc	p.R65H	MPI_ENST00000563422.1_Missense_Mutation_p.R65H|MPI_ENST00000566377.1_Missense_Mutation_p.R65H|MPI_ENST00000323744.6_Missense_Mutation_p.R65H|MPI_ENST00000562606.1_Missense_Mutation_p.R45H|MPI_ENST00000563786.1_Missense_Mutation_p.R45H|MPI_ENST00000564003.1_Missense_Mutation_p.R15H|MPI_ENST00000565576.1_Missense_Mutation_p.R65H|MPI_ENST00000535694.1_Missense_Mutation_p.R15H			P34949	MPI_HUMAN	mannose phosphate isomerase	65					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	mannose-6-phosphate isomerase activity (GO:0004476)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CTTGACAACCGCATCTCACAG	0.552																																						ENST00000352410.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(193-195)cGc>cAc		mannose phosphate isomerase							175.0	153.0	160.0					15																	75183769		2197	4295	6492	SO:0001583	missense	4351				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding	g.chr15:75183769G>A		CCDS10272.1, CCDS73756.1, CCDS73757.1, CCDS73758.1	15q24.1	2013-09-19			ENSG00000178802	ENSG00000178802	5.3.1.8		7216	protein-coding gene	gene with protein product	"""mannose-6-phosphate isomerase"""	154550					Standard	NM_002435		Approved		uc002azc.1	P34949	OTTHUMG00000142826	ENST00000352410.4:c.194G>A	15.37:g.75183769G>A	ENSP00000318318:p.Arg65His					MPI_ENST00000564003.1_Missense_Mutation_p.R15H|MPI_ENST00000563786.1_Missense_Mutation_p.R45H|MPI_ENST00000323744.6_Missense_Mutation_p.R65H|MPI_ENST00000562606.1_Missense_Mutation_p.R45H|MPI_ENST00000563422.1_Missense_Mutation_p.R65H|MPI_ENST00000535694.1_Missense_Mutation_p.R15H|MPI_ENST00000565576.1_Missense_Mutation_p.R65H|MPI_ENST00000566377.1_Missense_Mutation_p.R65H	p.R65H			P34949	MPI_HUMAN			3	261	+			65					A8K8K9|Q96AB0	Missense_Mutation	SNP	ENST00000352410.4	37	c.194G>A	CCDS10272.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980537	0.34942	.	.	ENSG00000178802	ENST00000352410;ENST00000535694;ENST00000379693;ENST00000323744	D;D;D	0.95690	-3.78;-3.78;-3.78	5.07	1.93	0.25924	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);	0.247105	0.39475	N	0.001360	D	0.90631	0.7062	L	0.41356	1.27	0.36302	D	0.857123	B;B;B;B;B	0.15930	0.015;0.013;0.003;0.0;0.004	B;B;B;B;B	0.20955	0.032;0.002;0.002;0.009;0.009	D	0.87316	0.2315	10	0.46703	T	0.11	.	6.3624	0.21435	0.2312:0.1374:0.6314:0.0	.	15;65;65;45;65	B4DYB8;B4DFC4;P34949-2;Q8NHZ6;P34949	.;.;.;.;MPI_HUMAN	H	65;15;45;65	ENSP00000318318:R65H;ENSP00000440447:R15H;ENSP00000318192:R65H	ENSP00000318192:R65H	R	+	2	0	MPI	72970822	0.001000	0.12720	0.143000	0.22291	0.620000	0.37586	1.040000	0.30278	1.122000	0.41944	0.462000	0.41574	CGC		0.552	MPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286418.4			4	152	0	0	0	1	0	4	152				
CAND1	55832	broad.mit.edu	37	12	67700007	67700007	+	Silent	SNP	A	A	T			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr12:67700007A>T	ENST00000545606.1	+	10	2996	c.2559A>T	c.(2557-2559)ggA>ggT	p.G853G		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	853					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		ACTTAAGTGGACAGTTGGAAC	0.398																																						ENST00000545606.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.(2557-2559)ggA>ggT		cullin-associated and neddylation-dissociated 1							117.0	116.0	117.0					12																	67700007		2203	4300	6503	SO:0001819	synonymous_variant	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67700007A>T		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.2559A>T	12.37:g.67700007A>T							p.G853G	NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	10	2996	+			853					B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Silent	SNP	ENST00000545606.1	37	c.2559A>T	CCDS8977.1																																																																																				0.398	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		24	89	0	0	0	1	0	24	89				
PEAK1	79834	broad.mit.edu	37	15	77473215	77473215	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr15:77473215A>T	ENST00000560626.2	-	4	1529	c.1054T>A	c.(1054-1056)Tca>Aca	p.S352T	PEAK1_ENST00000312493.4_Missense_Mutation_p.S352T|PEAK1_ENST00000558305.1_Missense_Mutation_p.S352T			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	352	Ser-rich.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TCAGAACGTGATTCTTCTGTT	0.428																																						ENST00000560626.2																			0											c.(1054-1056)Tca>Aca		pseudopodium-enriched atypical kinase 1							53.0	48.0	50.0					15																	77473215		1876	4098	5974	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77473215A>T		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.1054T>A	15.37:g.77473215A>T	ENSP00000452796:p.Ser352Thr					PEAK1_ENST00000312493.4_Missense_Mutation_p.S352T|PEAK1_ENST00000558305.1_Missense_Mutation_p.S352T	p.S352T			Q9H792	PEAK1_HUMAN			4	1529	-			352			Ser-rich.		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.1054T>A	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	A	14.72	2.620733	0.46736	.	.	ENSG00000173517	ENST00000312493	T	0.71461	-0.57	5.3	5.3	0.74995	.	0.215535	0.19367	U	0.115998	T	0.62527	0.2435	N	0.24115	0.695	0.30453	N	0.775014	D	0.57257	0.979	P	0.46718	0.525	T	0.63954	-0.6520	10	0.38643	T	0.18	-5.6092	13.8183	0.63306	1.0:0.0:0.0:0.0	.	352	Q9H792	PEAK1_HUMAN	T	352	ENSP00000309230:S352T	ENSP00000309230:S352T	S	-	1	0	AC087465.1	75260270	1.000000	0.71417	0.944000	0.38274	0.944000	0.59088	8.567000	0.90737	1.999000	0.58509	0.455000	0.32223	TCA		0.428	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			39	37	0	0	0	1	0	39	37				
TG	7038	broad.mit.edu	37	8	133980108	133980108	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr8:133980108G>A	ENST00000220616.4	+	31	5796	c.5756G>A	c.(5755-5757)tGc>tAc	p.C1919Y	TG_ENST00000542445.1_Missense_Mutation_p.C289Y|TG_ENST00000519543.1_Missense_Mutation_p.C73Y|TG_ENST00000377869.1_Missense_Mutation_p.C1862Y	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1919					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TACTTCACCTGCACCCTCTAC	0.527																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(5755-5757)tGc>tAc		thyroglobulin							90.0	71.0	77.0					8																	133980108		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133980108G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.5756G>A	8.37:g.133980108G>A	ENSP00000220616:p.Cys1919Tyr					TG_ENST00000519543.1_Missense_Mutation_p.C73Y|TG_ENST00000377869.1_Missense_Mutation_p.C1862Y|TG_ENST00000542445.1_Missense_Mutation_p.C289Y	p.C1919Y	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	31	5796	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1919					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.5756G>A	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.00|19.00	3.742229|3.742229	0.69418|0.69418	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000518058|ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	.|T;T;T;T	.|0.80480	.|-1.07;-1.19;-1.27;-1.38	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|1.681680	.|0.02692	.|N	.|0.110752	D|D	0.91825|0.91825	0.7413|0.7413	M|M	0.79475|0.79475	2.455|2.455	0.49130|0.49130	D|D	0.999759|0.999759	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.999	T|T	0.79200|0.79200	-0.1901|-0.1901	5|10	.|0.87932	.|D	.|0	.|.	16.0731|16.0731	0.80948|0.80948	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|73;289;1919	.|E7EVM0;F5GWW5;P01266	.|.;.;THYG_HUMAN	T|Y	51|1862;725;1919;289;73	.|ENSP00000367100:C1862Y;ENSP00000220616:C1919Y;ENSP00000441693:C289Y;ENSP00000430430:C73Y	.|ENSP00000220616:C1919Y	A|C	+|+	1|2	0|0	TG|TG	134049290|134049290	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.542000|0.542000	0.35054|0.35054	6.355000|6.355000	0.73041|0.73041	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCA|TGC		0.527	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		4	27	0	0	0	1	0	4	27				
FBN3	84467	broad.mit.edu	37	19	8174609	8174609	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr19:8174609G>T	ENST00000600128.1	-	35	4776	c.4362C>A	c.(4360-4362)aaC>aaA	p.N1454K	FBN3_ENST00000601739.1_Missense_Mutation_p.N1454K|FBN3_ENST00000270509.2_Missense_Mutation_p.N1454K			Q75N90	FBN3_HUMAN	fibrillin 3	1454	EGF-like 23; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CGTTGATGCAGTTTACTGGGT	0.622																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(4360-4362)aaC>aaA		fibrillin 3							134.0	126.0	129.0					19																	8174609		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8174609G>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4362C>A	19.37:g.8174609G>T	ENSP00000470498:p.Asn1454Lys					FBN3_ENST00000601739.1_Missense_Mutation_p.N1454K|FBN3_ENST00000270509.2_Missense_Mutation_p.N1454K	p.N1454K			Q75N90	FBN3_HUMAN			35	4776	-			1454			EGF-like 23; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.4362C>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881918	0.33255	.	.	ENSG00000142449	ENST00000270509	D	0.94232	-3.38	3.79	1.47	0.22746	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.89750	0.6805	L	0.28054	0.825	0.47511	D	0.999443	D	0.61697	0.99	P	0.54759	0.76	D	0.84681	0.0717	10	0.17369	T	0.5	.	9.1477	0.36944	0.0878:0.1487:0.7635:0.0	.	1454	Q75N90	FBN3_HUMAN	K	1454	ENSP00000270509:N1454K	ENSP00000270509:N1454K	N	-	3	2	FBN3	8080609	1.000000	0.71417	0.922000	0.36590	0.025000	0.11179	4.272000	0.58908	0.667000	0.31107	0.484000	0.47621	AAC		0.622	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		82	114	1	0	4.69036e-40	1	5.2532e-40	82	114				
PNLIP	5406	broad.mit.edu	37	10	118320020	118320020	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr10:118320020C>T	ENST00000369221.2	+	11	1181	c.1153C>T	c.(1153-1155)Cag>Tag	p.Q385*		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	385	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	AAACTCTAAGCAGTATGAAAT	0.383																																						ENST00000369221.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43						c.(1153-1155)Cag>Tag		pancreatic lipase	Bentiromide(DB00522)|Orlistat(DB01083)						75.0	76.0	76.0					10																	118320020		2203	4300	6503	SO:0001587	stop_gained	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118320020C>T	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.1153C>T	10.37:g.118320020C>T	ENSP00000358223:p.Gln385*						p.Q385*	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN		all cancers(201;0.0131)	11	1181	+			385			PLAT.		Q5VSQ2	Nonsense_Mutation	SNP	ENST00000369221.2	37	c.1153C>T	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	C	37	6.228268	0.97394	.	.	ENSG00000175535	ENST00000369221	.	.	.	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	17.1989	0.86901	0.0:1.0:0.0:0.0	.	.	.	.	X	385	.	ENSP00000358223:Q385X	Q	+	1	0	PNLIP	118310010	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	3.448000	0.52943	2.806000	0.96561	0.655000	0.94253	CAG		0.383	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		24	31	0	0	0	1	0	24	31				
CNOT1	23019	broad.mit.edu	37	16	58559097	58559097	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr16:58559097T>A	ENST00000317147.5	-	46	7102	c.6770A>T	c.(6769-6771)gAc>gTc	p.D2257V	CNOT1_ENST00000245138.4_Missense_Mutation_p.D1108V|CNOT1_ENST00000569240.1_Missense_Mutation_p.D2252V	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2257					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AGTGTCCAAGTCCACAGCCAA	0.463																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(6769-6771)gAc>gTc		CCR4-NOT transcription complex, subunit 1							175.0	138.0	150.0					16																	58559097		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58559097T>A	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.6770A>T	16.37:g.58559097T>A	ENSP00000320949:p.Asp2257Val					CNOT1_ENST00000569240.1_Missense_Mutation_p.D2252V|CNOT1_ENST00000245138.4_Missense_Mutation_p.D1108V	p.D2257V	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	46	7102	-			2257					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.6770A>T	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.691588	0.88735	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000546037;ENST00000245138	T	0.48522	0.81	6.08	6.08	0.98989	CCR4-Not complex component, Not1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67277	0.2876	M	0.69823	2.125	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.70227	0.953;0.968;0.935	T	0.66952	-0.5793	10	0.42905	T	0.14	-9.2824	15.8323	0.78764	0.0:0.0:0.0:1.0	.	1108;2257;2252	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	V	2257;951;262;1108	ENSP00000320949:D2257V	ENSP00000245138:D1108V	D	-	2	0	CNOT1	57116598	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.798000	0.85924	2.333000	0.79357	0.482000	0.46254	GAC		0.463	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		35	52	0	0	0	1	0	35	52				
MROH7	374977	broad.mit.edu	37	1	55130850	55130850	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr1:55130850T>G	ENST00000421030.2	+	4	1527	c.1242T>G	c.(1240-1242)gaT>gaG	p.D414E	MROH7_ENST00000339553.5_Missense_Mutation_p.D414E|MROH7_ENST00000395690.2_Missense_Mutation_p.D414E|MROH7_ENST00000545244.1_De_novo_Start_OutOfFrame|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.D414E|MROH7_ENST00000409996.1_De_novo_Start_OutOfFrame|MROH7_ENST00000454855.2_De_novo_Start_InFrame	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	414						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GAGCCTTTGATGAAGTGACCT	0.542																																						ENST00000409996.1																			0													maestro heat-like repeat family member 7							99.0	104.0	102.0					1																	55130850		2103	4225	6328	SO:0001583	missense	374977							g.chr1:55130850T>G	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.1242T>G	1.37:g.55130850T>G	ENSP00000396622:p.Asp414Glu					MROH7_ENST00000395690.2_Missense_Mutation_p.D414E|MROH7_ENST00000339553.5_Missense_Mutation_p.D414E|MROH7_ENST00000545244.1_De_novo_Start_OutOfFrame|MROH7_ENST00000414150.2_Missense_Mutation_p.D414E|MROH7_ENST00000421030.2_Missense_Mutation_p.D414E|MROH7_ENST00000454855.2_De_novo_Start_InFrame								0	172	+								A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Translation_Start_Site	SNP	ENST00000421030.2	37		CCDS41342.2	.	.	.	.	.	.	.	.	.	.	T	1.340	-0.594354	0.03771	.	.	ENSG00000184313	ENST00000421030;ENST00000414867;ENST00000339553;ENST00000395690	T;T;T	0.04119	3.7;3.7;3.7	3.47	-2.12	0.07165	.	.	.	.	.	T	0.01627	0.0052	N	0.04508	-0.205	0.09310	N	0.999995	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.003	T	0.46005	-0.9222	9	0.05436	T	0.98	.	3.8129	0.08804	0.5391:0.1097:0.0:0.3512	.	414;414	F8W8P2;Q68CQ1	.;HEAT8_HUMAN	E	414;439;414;414	ENSP00000396622:D414E;ENSP00000343211:D414E;ENSP00000379044:D414E	ENSP00000343211:D414E	D	+	3	2	HEATR8	54903438	0.002000	0.14202	0.000000	0.03702	0.093000	0.18481	-0.942000	0.03921	-0.408000	0.07565	-0.473000	0.04963	GAT		0.542	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		10	27	0	0	0	1	0	10	27				
SCN5A	6331	broad.mit.edu	37	3	38592256	38592256	+	Silent	SNP	G	G	A	rs560476223		TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr3:38592256G>A	ENST00000333535.4	-	28	5756	c.5607C>T	c.(5605-5607)gaC>gaT	p.D1869D	SCN5A_ENST00000450102.2_Silent_p.D1815D|SCN5A_ENST00000449557.2_Silent_p.D1815D|SCN5A_ENST00000451551.2_Silent_p.D1815D|SCN5A_ENST00000423572.2_Silent_p.D1868D|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000455624.2_Silent_p.D1836D|SCN5A_ENST00000443581.1_Silent_p.D1868D|SCN5A_ENST00000413689.1_Silent_p.D1869D|SCN5A_ENST00000414099.2_Silent_p.D1851D|SCN5A_ENST00000425664.1_Silent_p.D1851D			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1869	Interaction with FGF13.				AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TCTTCAGGGCGTCCATCTCCC	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		17464	0.0		0.0	False		,,,				2504	0.001					ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(5605-5607)gaC>gaT		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						157.0	171.0	167.0					3																	38592256		2094	4207	6301	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38592256G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5607C>T	3.37:g.38592256G>A						SCN5A_ENST00000423572.2_Silent_p.D1868D|SCN5A_ENST00000451551.2_Silent_p.D1815D|SCN5A_ENST00000333535.4_Silent_p.D1869D|SCN5A_ENST00000450102.2_Silent_p.D1815D|SCN5A_ENST00000449557.2_Silent_p.D1815D|SCN5A_ENST00000443581.1_Silent_p.D1868D|SCN5A_ENST00000425664.1_Silent_p.D1851D|SCN5A_ENST00000414099.2_Silent_p.D1851D|SCN5A_ENST00000455624.2_Silent_p.D1836D	p.D1869D	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	28	5800	-	Medulloblastoma(35;0.163)		1869					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.5607C>T	CCDS46796.1																																																																																				0.572	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		4	86	0	0	0	1	0	4	86				
ZNF639	51193	broad.mit.edu	37	3	179051242	179051242	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr3:179051242C>A	ENST00000326361.3	+	7	935	c.490C>A	c.(490-492)Caa>Aaa	p.Q164K	ZNF639_ENST00000496856.1_Missense_Mutation_p.Q164K|ZNF639_ENST00000484866.1_Missense_Mutation_p.Q164K|ZNF639_ENST00000466663.1_3'UTR	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	164					negative regulation by host of viral transcription (GO:0043922)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|transcription, DNA-templated (GO:0006351)|viral entry into host cell (GO:0046718)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein self-association (GO:0043621)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TGAGAGTCTCCAAGACCAAAC	0.418																																						ENST00000326361.3																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16						c.(490-492)Caa>Aaa		zinc finger protein 639							66.0	68.0	68.0					3																	179051242		2203	4300	6503	SO:0001583	missense	51193				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:179051242C>A	BC020500	CCDS3227.1	3q27.1	2010-03-26			ENSG00000121864	ENSG00000121864		"""Zinc fingers, C2H2-type"""	30950	protein-coding gene	gene with protein product	"""zinc finger amplified in esophageal squamous cell carcinomas 1"""					14522885	Standard	NM_016331		Approved	ANC-2H01, ZASC1	uc003fjr.1	Q9UID6	OTTHUMG00000157439	ENST00000326361.3:c.490C>A	3.37:g.179051242C>A	ENSP00000325634:p.Gln164Lys					ZNF639_ENST00000466663.1_3'UTR|ZNF639_ENST00000496856.1_Missense_Mutation_p.Q164K|ZNF639_ENST00000484866.1_Missense_Mutation_p.Q164K	p.Q164K	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		7	935	+	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		164					A9X3Z9|D3DNR3	Missense_Mutation	SNP	ENST00000326361.3	37	c.490C>A	CCDS3227.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.677528	0.29783	.	.	ENSG00000121864	ENST00000496856;ENST00000491818;ENST00000326361;ENST00000466264;ENST00000484866	T;T;T;T	0.03496	3.91;3.91;4.5;3.91	5.87	5.87	0.94306	.	0.252367	0.33792	N	0.004549	T	0.03695	0.0105	N	0.24115	0.695	0.27300	N	0.957602	B	0.09022	0.002	B	0.11329	0.006	T	0.38887	-0.9640	10	0.32370	T	0.25	.	14.336	0.66589	0.0:0.8109:0.1891:0.0	.	164	Q9UID6	ZN639_HUMAN	K	164	ENSP00000417740:Q164K;ENSP00000325634:Q164K;ENSP00000419650:Q164K;ENSP00000418766:Q164K	ENSP00000325634:Q164K	Q	+	1	0	ZNF639	180533936	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.392000	0.52537	2.941000	0.99782	0.655000	0.94253	CAA		0.418	ZNF639-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348855.1	NM_016331		3	54	1	0	0.115264	1	0.115264	3	54				
CD180	4064	broad.mit.edu	37	5	66480267	66480267	+	Missense_Mutation	SNP	G	G	A	rs372829866		TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr5:66480267G>A	ENST00000256447.4	-	3	561	c.404C>T	c.(403-405)aCg>aTg	p.T135M		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	135					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GGATATTCCCGTTTGGATTAA	0.403																																						ENST00000256447.4																			0				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34						c.(403-405)aCg>aTg		CD180 molecule							168.0	166.0	166.0					5																	66480267		2203	4300	6503	SO:0001583	missense	4064				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity	g.chr5:66480267G>A	D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"""CD molecules"""	6726	protein-coding gene	gene with protein product		602226	"""lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen"""	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.404C>T	5.37:g.66480267G>A	ENSP00000256447:p.Thr135Met						p.T135M	NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN		Lung(70;0.0046)	3	561	-		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)	135					B2R7Z7|Q32MM5	Missense_Mutation	SNP	ENST00000256447.4	37	c.404C>T	CCDS3992.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.840170	0.71488	.	.	ENSG00000134061	ENST00000256447	T	0.59083	0.29	5.92	5.92	0.95590	.	0.077805	0.53938	D	0.000049	T	0.73536	0.3599	M	0.65975	2.015	0.44762	D	0.997764	D	0.89917	1.0	D	0.97110	1.0	T	0.74904	-0.3505	10	0.72032	D	0.01	.	13.5147	0.61533	0.071:0.0:0.929:0.0	.	135	Q99467	CD180_HUMAN	M	135	ENSP00000256447:T135M	ENSP00000256447:T135M	T	-	2	0	CD180	66516023	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.656000	0.46716	2.818000	0.97014	0.655000	0.94253	ACG		0.403	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582		95	139	0	0	0	1	0	95	139				
SDHAP1	255812	broad.mit.edu	37	3	195698264	195698264	+	RNA	SNP	T	T	C	rs12485654	byFrequency	TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr3:195698264T>C	ENST00000427841.1	-	0	1608					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		TTTGTCAACATTCGTGACAGA	0.413																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195698264T>C	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195698264T>C								NR_003264.2						0	1608	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.413	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			3	51	0	0	0	1	0	3	51				
EEF2	1938	broad.mit.edu	37	19	3984159	3984159	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr19:3984159C>A	ENST00000309311.6	-	2	281	c.193G>T	c.(193-195)Gag>Tag	p.E65*	EEF2_ENST00000600720.1_5'UTR|SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	65	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGCAACGCTCCTGCTCGTCC	0.657																																					Colon(165;1804 1908 4071 6587 18799)	ENST00000309311.6																			0				endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(193-195)Gag>Tag		eukaryotic translation elongation factor 2							106.0	95.0	99.0					19																	3984159		2203	4300	6503	SO:0001587	stop_gained	1938					cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr19:3984159C>A	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.193G>T	19.37:g.3984159C>A	ENSP00000307940:p.Glu65*					EEF2_ENST00000600720.1_5'UTR	p.E65*	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)	2	281	-		Hepatocellular(1079;0.137)	65					B2RMP5|D6W618|Q58J86	Nonsense_Mutation	SNP	ENST00000309311.6	37	c.193G>T	CCDS12117.1	.	.	.	.	.	.	.	.	.	.	C	39	7.408255	0.98265	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-63.1855	18.0214	0.89255	0.0:1.0:0.0:0.0	.	.	.	.	X	65	.	ENSP00000307940:E65X	E	-	1	0	EEF2	3935159	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.599000	0.82757	2.489000	0.83994	0.655000	0.94253	GAG		0.657	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	NM_001961		23	42	1	0	1.85244e-09	1	1.9573e-09	23	42				
KIF22	3835	broad.mit.edu	37	16	29816582	29816582	+	Splice_Site	SNP	A	A	T			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr16:29816582A>T	ENST00000160827.4	+	14	1990		c.e14-1		MAZ_ENST00000219782.6_5'Flank|MAZ_ENST00000568544.1_5'Flank|MAZ_ENST00000566906.2_5'Flank|KIF22_ENST00000561482.1_Splice_Site|KIF22_ENST00000569382.2_Splice_Site|MAZ_ENST00000322945.6_5'Flank|MAZ_ENST00000545521.1_5'Flank|MAZ_ENST00000569978.1_5'Flank|MAZ_ENST00000568282.1_5'Flank|MAZ_ENST00000563402.1_5'Flank|MAZ_ENST00000562337.1_5'Flank|KIF22_ENST00000400751.5_Splice_Site|AC009133.15_ENST00000566537.1_RNA	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						CCTGTGTTGCAGGCAAACATC	0.622																																						ENST00000561482.1																			0				endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						c.e14-1		kinesin family member 22							130.0	141.0	137.0					16																	29816582		2197	4296	6493	SO:0001630	splice_region_variant	3835				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chr16:29816582A>T	D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"""Kinesins"""	6391	protein-coding gene	gene with protein product		603213	"""kinesin-like 4"""	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.1951-1A>T	16.37:g.29816582A>T						KIF22_ENST00000160827.4_Splice_Site|KIF22_ENST00000400751.5_Splice_Site|KIF22_ENST00000569382.2_Splice_Site		NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN			14	2383	+								B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Splice_Site	SNP	ENST00000160827.4	37		CCDS10653.1	.	.	.	.	.	.	.	.	.	.	A	14.41	2.526654	0.44969	.	.	ENSG00000079616	ENST00000160827;ENST00000400751	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1163	0.53868	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIF22	29724083	1.000000	0.71417	1.000000	0.80357	0.282000	0.26991	2.736000	0.47385	2.023000	0.59567	0.454000	0.30748	.		0.622	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215012.2		Intron	7	220	0	0	0	1	0	7	220				
MUC17	140453	broad.mit.edu	37	7	100682921	100682921	+	Nonsense_Mutation	SNP	C	C	T	rs148241944	byFrequency	TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr7:100682921C>T	ENST00000306151.4	+	3	8288	c.8224C>T	c.(8224-8226)Cga>Tga	p.R2742*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2742	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCGAATCTCAAC	0.502																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(8224-8226)Cga>Tga		mucin 17, cell surface associated		C	stop/ARG	0,4406		0,0,2203	257.0	253.0	254.0		8224	-1.0	0.0	7	dbSNP_134	254	1,8599		0,1,4299	no	stop-gained	MUC17	NM_001040105.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		2742/4494	100682921	1,13005	2203	4300	6503	SO:0001587	stop_gained	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100682921C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8224C>T	7.37:g.100682921C>T	ENSP00000302716:p.Arg2742*						p.R2742*	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	8288	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2742			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Nonsense_Mutation	SNP	ENST00000306151.4	37	c.8224C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	46	12.608856	0.99682	0.0	1.16E-4	ENSG00000169876	ENST00000306151	.	.	.	0.671	-0.96	0.10340	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	2.4218	0.04450	0.0:0.383:0.3077:0.3093	.	.	.	.	X	2742	.	ENSP00000302716:R2742X	R	+	1	2	MUC17	100469641	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.959000	0.03853	-0.358000	0.08162	0.134000	0.15878	CGA		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	448	0	0	0	1	0	6	448				
PASD1	139135	broad.mit.edu	37	X	150770053	150770053	+	Splice_Site	SNP	G	G	A			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chrX:150770053G>A	ENST00000370357.4	+	2	273	c.28G>A	c.(28-30)Gac>Aac	p.D10N		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	10						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGAGAAGAGGTATGCATTC	0.428																																						ENST00000370357.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.e2+1		PAS domain containing 1							154.0	116.0	129.0					X																	150770053		2203	4300	6503	SO:0001630	splice_region_variant	139135					nucleus	signal transducer activity	g.chrX:150770053G>A	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.28+1G>A	X.37:g.150770053G>A							p.D10_splice	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			2	273	+	Acute lymphoblastic leukemia(192;6.56e-05)		10					Q3MNE0|Q69HD7|Q8N7X9	Splice_Site	SNP	ENST00000370357.4	37	c.28_splice	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443940	0.25987	.	.	ENSG00000166049	ENST00000370357	T	0.68765	-0.35	4.96	4.08	0.47627	.	.	.	.	.	T	0.51736	0.1692	L	0.36672	1.1	0.80722	D	1	P	0.52316	0.952	B	0.44315	0.446	T	0.55798	-0.8084	9	0.02654	T	1	.	9.8824	0.41242	0.0:0.0:0.7956:0.2044	.	10	Q8IV76	PASD1_HUMAN	N	10	ENSP00000359382:D10N	ENSP00000359382:D10N	D	+	1	0	PASD1	150520709	1.000000	0.71417	0.547000	0.28179	0.040000	0.13550	2.528000	0.45624	0.965000	0.38133	0.544000	0.68410	GAC		0.428	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493	Missense_Mutation	3	52	0	0	0	1	0	3	52				
C2CD3	26005	broad.mit.edu	37	11	73834139	73834139	+	Missense_Mutation	SNP	G	G	C	rs147709320		TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr11:73834139G>C	ENST00000334126.7	-	8	1485	c.1259C>G	c.(1258-1260)tCt>tGt	p.S420C	C2CD3_ENST00000313663.7_Missense_Mutation_p.S420C			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	420					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ATCTGGAGGAGAGCCTAGCCC	0.418																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(1258-1260)tCt>tGt		C2 calcium-dependent domain containing 3							69.0	69.0	69.0					11																	73834139		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73834139G>C	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.1259C>G	11.37:g.73834139G>C	ENSP00000334379:p.Ser420Cys					C2CD3_ENST00000313663.7_Missense_Mutation_p.S420C	p.S420C			Q4AC94	C2CD3_HUMAN			8	1485	-	Breast(11;4.16e-06)		420					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.1259C>G		.	.	.	.	.	.	.	.	.	.	G	24.5	4.534172	0.85812	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.14022	2.54;2.56	5.52	5.52	0.82312	.	0.128836	0.53938	D	0.000049	T	0.38904	0.1058	M	0.68952	2.095	0.45108	D	0.998127	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.09509	-1.0671	10	0.72032	D	0.01	-14.8447	19.0354	0.92974	0.0:0.0:1.0:0.0	.	420;420	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	C	420	ENSP00000334379:S420C;ENSP00000323339:S420C	ENSP00000323339:S420C	S	-	2	0	C2CD3	73511787	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.144000	0.89623	2.586000	0.87340	0.561000	0.74099	TCT		0.418	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		17	31	0	0	0	1	0	17	31				
SPTA1	6708	broad.mit.edu	37	1	158627401	158627401	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr1:158627401G>A	ENST00000368147.4	-	19	2851	c.2671C>T	c.(2671-2673)Cga>Tga	p.R891*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	891					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R891*(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCATTTTGTCGCCTAGCAGCT	0.463																																						ENST00000368148.3																			1	Substitution - Nonsense(1)	p.R891*(1)	endometrium(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(2671-2673)Cga>Tga		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							175.0	172.0	173.0					1																	158627401		2011	4191	6202	SO:0001587	stop_gained	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158627401G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2671C>T	1.37:g.158627401G>A	ENSP00000357129:p.Arg891*					SPTA1_ENST00000368147.3_Nonsense_Mutation_p.R891*	p.R891*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			19	2851	-	all_hematologic(112;0.0378)		891					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation	SNP	ENST00000368147.4	37	c.2671C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	37	6.627707	0.97718	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	4.67	2.72	0.32119	.	0.000000	0.29609	N	0.011661	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3699	0.55250	0.0:0.0:0.6925:0.3075	.	.	.	.	X	891	.	ENSP00000357129:R891X	R	-	1	2	SPTA1	156894025	1.000000	0.71417	0.017000	0.16124	0.037000	0.13140	2.194000	0.42668	0.634000	0.30469	0.655000	0.94253	CGA		0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		56	77	0	0	0	1	0	56	77				
OR4N2	390429	broad.mit.edu	37	14	20296415	20296415	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr14:20296415G>C	ENST00000315947.1	+	1	808	c.808G>C	c.(808-810)Gtg>Ctg	p.V270L	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGCTGACAAGGTGGTTTCTCT	0.443																																						ENST00000315947.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52						c.(808-810)Gtg>Ctg		olfactory receptor, family 4, subfamily N, member 2							96.0	100.0	98.0					14																	20296415		2203	4300	6503	SO:0001583	missense	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20296415G>C		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.808G>C	14.37:g.20296415G>C	ENSP00000319601:p.Val270Leu					OR4N2_ENST00000568211.1_3'UTR	p.V270L	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	808	+	all_cancers(95;0.00108)		270					Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	c.808G>C	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	10.66	1.412392	0.25465	.	.	ENSG00000176294	ENST00000315947	T	0.00249	8.44	4.57	3.6	0.41247	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42964	D	0.000628	T	0.00109	0.0003	L	0.28014	0.82	0.09310	N	1	B	0.15473	0.013	B	0.24269	0.052	T	0.34775	-0.9815	10	0.11794	T	0.64	-13.2756	5.2335	0.15434	0.1044:0.0:0.6928:0.2028	.	270	Q8NGD1	OR4N2_HUMAN	L	270	ENSP00000319601:V270L	ENSP00000319601:V270L	V	+	1	0	OR4N2	19366255	0.000000	0.05858	0.999000	0.59377	0.959000	0.62525	-0.071000	0.11505	2.521000	0.84997	0.591000	0.81541	GTG		0.443	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			4	254	0	0	0	1	0	4	254				
SLC12A8	84561	broad.mit.edu	37	3	124802839	124802839	+	Silent	SNP	G	G	A			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr3:124802839G>A	ENST00000393469.4	-	13	2089	c.2040C>T	c.(2038-2040)gaC>gaT	p.D680D	SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000314584.7_Silent_p.D341D|SLC12A8_ENST00000423114.2_Silent_p.D709D|SLC12A8_ENST00000430155.2_Silent_p.D481D|SLC12A8_ENST00000469902.1_Silent_p.D680D	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	680					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						TCATCTCCATGTCAACCTTAG	0.582																																						ENST00000423114.2																			0				endometrium(2)|kidney(2)|lung(12)	16						c.(2125-2127)gaC>gaT		solute carrier family 12, member 8							54.0	59.0	58.0					3																	124802839		2098	4227	6325	SO:0001819	synonymous_variant	84561				potassium ion transport	integral to membrane	symporter activity	g.chr3:124802839G>A		CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"""Solute carriers"""	15595	protein-coding gene	gene with protein product	"""solute carrier family 12 (sodium/potassium/chloride transporters), member 8"", ""cation-chloride cotransporter 9"""	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.2040C>T	3.37:g.124802839G>A						SLC12A8_ENST00000314584.7_Silent_p.D341D|SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000430155.2_Silent_p.D481D|SLC12A8_ENST00000393469.4_Silent_p.D680D|SLC12A8_ENST00000469902.1_Silent_p.D680D	p.D709D			A0AV02	S12A8_HUMAN			14	2126	-			680					C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Silent	SNP	ENST00000393469.4	37	c.2127C>T	CCDS43143.1																																																																																				0.582	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	NM_024628		7	9	0	0	0	1	0	7	9				
HOPX	84525	broad.mit.edu	37	4	57522053	57522053	+	Silent	SNP	G	G	C			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr4:57522053G>C	ENST00000337881.7	-	2	770	c.114C>G	c.(112-114)gcC>gcG	p.A38A	HOPX_ENST00000381260.3_Silent_p.A38A|HOPX_ENST00000508121.1_Silent_p.A56A|HOPX_ENST00000420433.1_Silent_p.A56A|HOPX_ENST00000556614.2_Silent_p.A38A|HOPX_ENST00000555760.2_Silent_p.A38A|HOPX_ENST00000554144.1_Silent_p.A56A|HOPX_ENST00000556376.2_Silent_p.A38A|HOPX_ENST00000503639.3_Silent_p.A38A|HOPX_ENST00000553379.2_Silent_p.A38A|HOPX_ENST00000381255.3_Silent_p.A38A|HOPX_ENST00000317745.7_Silent_p.A38A	NM_139212.3	NP_631958.1	Q9BPY8	HOP_HUMAN	HOP homeobox	38					heart development (GO:0007507)|histone deacetylation (GO:0016575)|lung alveolus development (GO:0048286)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of heart contraction (GO:0008016)|regulation of protein binding (GO:0043393)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|lung(5)|skin(1)	8	Glioma(25;0.08)|all_neural(26;0.101)					GGCCTGCCTCGGCCGCGATGA	0.687																																						ENST00000554144.1																			0				large_intestine(2)|lung(5)|skin(1)	8						c.(166-168)gcC>gcG		HOP homeobox							75.0	68.0	70.0					4																	57522053		2203	4300	6503	SO:0001819	synonymous_variant	84525				negative regulation of cell differentiation|trophectodermal cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:57522053G>C		CCDS3507.1, CCDS47062.1, CCDS54767.1	4q12	2011-06-20			ENSG00000171476	ENSG00000171476		"""Homeoboxes / PRD class"""	24961	protein-coding gene	gene with protein product	"""homeobox only domain"""	607275				12297045	Standard	NM_032495		Approved	LAGY, HOP, OB1, NECC1, SMAP31	uc003hbz.2	Q9BPY8	OTTHUMG00000128768	ENST00000337881.7:c.114C>G	4.37:g.57522053G>C						HOPX_ENST00000556376.2_Silent_p.A38A|HOPX_ENST00000553379.2_Silent_p.A38A|HOPX_ENST00000317745.7_Silent_p.A38A|HOPX_ENST00000337881.7_Silent_p.A38A|HOPX_ENST00000381255.3_Silent_p.A38A|HOPX_ENST00000381260.3_Silent_p.A38A|HOPX_ENST00000508121.1_Silent_p.A56A|HOPX_ENST00000420433.1_Silent_p.A56A|HOPX_ENST00000503639.3_Silent_p.A38A|HOPX_ENST00000555760.2_Silent_p.A38A|HOPX_ENST00000556614.2_Silent_p.A38A	p.A56A	NM_001145460.1	NP_001138932.1	Q9BPY8	HOP_HUMAN			3	702	-	Glioma(25;0.08)|all_neural(26;0.101)		38					A8K0Z2|E9PB55|G3V294|Q8N0V6|Q96CI1	Silent	SNP	ENST00000337881.7	37	c.168C>G	CCDS3507.1																																																																																				0.687	HOPX-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250689.4			5	14	0	0	0	1	0	5	14				
SDHAP1	255812	broad.mit.edu	37	3	195698262	195698262	+	RNA	SNP	C	C	G	rs28503679	byFrequency	TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr3:195698262C>G	ENST00000427841.1	-	0	1610					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AATTTGTCAACATTCGTGACA	0.418																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195698262C>G	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195698262C>G								NR_003264.2						0	1610	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.418	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			3	52	0	0	0	1	0	3	52				
ANXA10	11199	broad.mit.edu	37	4	169060678	169060678	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr4:169060678T>G	ENST00000359299.3	+	3	328	c.142T>G	c.(142-144)Tgc>Ggc	p.C48G		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	48						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		GACTCAGCGCTGCAATGCACA	0.413																																						ENST00000359299.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16						c.(142-144)Tgc>Ggc		annexin A10							108.0	102.0	104.0					4																	169060678		2203	4300	6503	SO:0001583	missense	11199						calcium ion binding|calcium-dependent phospholipid binding	g.chr4:169060678T>G	AJ238979	CCDS34096.1	4q32.3	2008-02-05			ENSG00000109511	ENSG00000109511		"""Annexins"""	534	protein-coding gene	gene with protein product		608008				10458909	Standard	NM_007193		Approved	ANX14	uc003irm.3	Q9UJ72	OTTHUMG00000161275	ENST00000359299.3:c.142T>G	4.37:g.169060678T>G	ENSP00000352248:p.Cys48Gly						p.C48G	NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN		GBM - Glioblastoma multiforme(119;0.0325)	3	328	+		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	48					Q96IQ5|Q9UJV4	Missense_Mutation	SNP	ENST00000359299.3	37	c.142T>G	CCDS34096.1	.	.	.	.	.	.	.	.	.	.	T	6.834	0.523061	0.13066	.	.	ENSG00000109511	ENST00000359299;ENST00000393751	T	0.03212	4.01	5.82	3.22	0.36961	.	0.276731	0.35838	N	0.002954	T	0.03095	0.0091	N	0.17379	0.485	0.31060	N	0.714283	B	0.27910	0.193	B	0.31442	0.13	T	0.17806	-1.0357	10	0.48119	T	0.1	.	9.9819	0.41819	0.4986:0.0:0.0:0.5014	.	48	Q9UJ72	ANX10_HUMAN	G	48	ENSP00000352248:C48G	ENSP00000352248:C48G	C	+	1	0	ANXA10	169297253	0.997000	0.39634	0.650000	0.29550	0.017000	0.09413	0.965000	0.29319	0.374000	0.24650	0.533000	0.62120	TGC		0.413	ANXA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364348.2	NM_007193		23	20	0	0	0	1	0	23	20				
TRPM3	80036	broad.mit.edu	37	9	73477945	73477945	+	Missense_Mutation	SNP	C	C	T	rs201455474		TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr9:73477945C>T	ENST00000377111.2	-	3	584	c.341G>A	c.(340-342)cGc>cAc	p.R114H	TRPM3_ENST00000377097.3_5'UTR|TRPM3_ENST00000358082.3_5'Flank|TRPM3_ENST00000361823.5_5'UTR|TRPM3_ENST00000357533.2_Missense_Mutation_p.R116H|TRPM3_ENST00000396285.1_5'Flank|TRPM3_ENST00000423814.3_Missense_Mutation_p.R116H|TRPM3_ENST00000396283.1_5'UTR|TRPM3_ENST00000360823.2_5'UTR|TRPM3_ENST00000408909.2_5'Flank|TRPM3_ENST00000437699.3_5'UTR|TRPM3_ENST00000396292.4_5'Flank|TRPM3_ENST00000377106.1_5'UTR|TRPM3_ENST00000377105.1_5'UTR|TRPM3_ENST00000396280.5_5'Flank|TRPM3_ENST00000377110.3_Missense_Mutation_p.R114H|TRPM3_ENST00000377101.1_5'UTR	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	114					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TCGGGAGAGGCGACTTTCATT	0.498																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(340-342)cGc>cAc		transient receptor potential cation channel, subfamily M, member 3							142.0	151.0	148.0					9																	73477945		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73477945C>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.341G>A	9.37:g.73477945C>T	ENSP00000366315:p.Arg114His					TRPM3_ENST00000377106.1_5'UTR|TRPM3_ENST00000357533.2_Missense_Mutation_p.R116H|TRPM3_ENST00000377101.1_5'UTR|TRPM3_ENST00000377111.2_Missense_Mutation_p.R114H|TRPM3_ENST00000396283.1_5'UTR|TRPM3_ENST00000361823.5_5'UTR|TRPM3_ENST00000437699.3_5'UTR|TRPM3_ENST00000360823.2_5'UTR|TRPM3_ENST00000377097.3_5'UTR|TRPM3_ENST00000423814.3_Missense_Mutation_p.R116H|TRPM3_ENST00000377105.1_5'UTR	p.R114H	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			3	584	-			114					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.341G>A		1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	23.2|23.2	4.382638|4.382638	0.82792|0.82792	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377097|ENST00000377111;ENST00000377110;ENST00000357533;ENST00000423814	.|T;T;T;T	.|0.56444	.|0.46;0.46;0.46;0.46	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65312|0.65312	0.2679|0.2679	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|B;D;B;B	.|0.76494	.|0.041;0.999;0.121;0.001	.|B;D;B;B	.|0.77004	.|0.019;0.989;0.04;0.001	T|T	0.62134|0.62134	-0.6918|-0.6918	5|10	.|0.44086	.|T	.|0.13	-1.3978|-1.3978	20.3854|20.3854	0.98941|0.98941	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|114;116;114;114	.|Q9HCF6;Q4VXD2;Q9HCF6-2;Q9HCF6-10	.|TRPM3_HUMAN;.;.;.	T|H	4|114;114;116;116	.|ENSP00000366315:R114H;ENSP00000366314:R114H;ENSP00000350140:R116H;ENSP00000389542:R116H	.|ENSP00000350140:R116H	A|R	-|-	1|2	0|0	TRPM3|TRPM3	72667765|72667765	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.055000|5.055000	0.64282|0.64282	2.825000|2.825000	0.97269|0.97269	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.498	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		39	55	0	0	0	1	0	39	55				
OCRL	4952	broad.mit.edu	37	X	128724236	128724236	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chrX:128724236G>A	ENST00000371113.4	+	24	2860	c.2695G>A	c.(2695-2697)Gaa>Aaa	p.E899K	OCRL_ENST00000357121.5_Missense_Mutation_p.E891K	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	899	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GCTTGGGAGCGAAGAAGACTA	0.478																																						ENST00000371113.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						c.(2695-2697)Gaa>Aaa		oculocerebrorenal syndrome of Lowe							181.0	178.0	179.0					X																	128724236		2203	4300	6503	SO:0001583	missense	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128724236G>A	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.2695G>A	X.37:g.128724236G>A	ENSP00000360154:p.Glu899Lys					OCRL_ENST00000357121.5_Missense_Mutation_p.E891K	p.E899K	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN			24	2860	+			899			Rho-GAP.		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	c.2695G>A	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841743	0.71488	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.94537	-3.44;-3.45	5.5	5.5	0.81552	Rho GTPase-activating protein domain (1);	0.176566	0.49916	D	0.000122	D	0.87557	0.6207	N	0.24115	0.695	0.52099	D	0.999943	P;B	0.39696	0.683;0.149	B;B	0.21546	0.035;0.022	D	0.87299	0.2304	10	0.25751	T	0.34	.	17.3313	0.87265	0.0:0.0:1.0:0.0	.	891;899	Q01968-2;Q01968	.;OCRL_HUMAN	K	899;891	ENSP00000360154:E899K;ENSP00000349635:E891K	ENSP00000349635:E891K	E	+	1	0	OCRL	128551917	1.000000	0.71417	0.451000	0.26982	0.951000	0.60555	7.088000	0.76901	2.305000	0.77605	0.600000	0.82982	GAA		0.478	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		13	138	0	0	0	1	0	13	138				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		5	44	0	0	0	1	0	5	44				
PLCG2	5336	broad.mit.edu	37	16	81971363	81971363	+	Splice_Site	SNP	A	A	G			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr16:81971363A>G	ENST00000359376.3	+	28	3267	c.3053A>G	c.(3052-3054)gAt>gGt	p.D1018G		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1018	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TCCTTCCCAGATAAGTACATG	0.517																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.e28-1		phospholipase C, gamma 2 (phosphatidylinositol-specific)							97.0	91.0	93.0					16																	81971363		2021	4179	6200	SO:0001630	splice_region_variant	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81971363A>G		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.3053-1A>G	16.37:g.81971363A>G							p.D1018_splice	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			28	3267	+			1018			PI-PLC Y-box.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Splice_Site	SNP	ENST00000359376.3	37	c.3052_splice	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	A	17.85	3.491121	0.64074	.	.	ENSG00000197943	ENST00000359376	T	0.55930	0.49	5.42	5.42	0.78866	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	T	0.48874	0.1524	L	0.53561	1.675	0.80722	D	1	B	0.14438	0.01	B	0.11329	0.006	T	0.41378	-0.9512	9	.	.	.	.	15.4811	0.75528	1.0:0.0:0.0:0.0	.	1018	P16885	PLCG2_HUMAN	G	1018	ENSP00000352336:D1018G	.	D	+	2	0	PLCG2	80528864	1.000000	0.71417	0.995000	0.50966	0.975000	0.68041	8.832000	0.92079	2.064000	0.61679	0.459000	0.35465	GAT		0.517	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1		Missense_Mutation	21	48	0	0	0	1	0	21	48				
DSP	1832	broad.mit.edu	37	6	7578701	7578701	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr6:7578701C>T	ENST00000379802.3	+	22	3331	c.2990C>T	c.(2989-2991)gCa>gTa	p.A997V	DSP_ENST00000418664.2_Missense_Mutation_p.A997V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	997	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCCAAGGCTGCAGATGTTCAT	0.333																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(2989-2991)gCa>gTa		desmoplakin							118.0	120.0	120.0					6																	7578701		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7578701C>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.2990C>T	6.37:g.7578701C>T	ENSP00000369129:p.Ala997Val					DSP_ENST00000418664.2_Missense_Mutation_p.A997V	p.A997V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	22	3331	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	997			Globular 1.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.2990C>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	7.150	0.583490	0.13749	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	D;D	0.94793	-3.52;-3.52	5.07	4.17	0.49024	.	0.370332	0.23053	N	0.052471	T	0.79287	0.4420	N	0.19112	0.55	0.30917	N	0.72849	B;B	0.33694	0.421;0.281	B;B	0.26969	0.075;0.075	T	0.70773	-0.4781	10	0.27785	T	0.31	.	10.9688	0.47428	0.1338:0.6073:0.2589:0.0	.	1044;997	Q4LE79;P15924	.;DESP_HUMAN	V	997;997;802	ENSP00000369129:A997V;ENSP00000396591:A997V	ENSP00000369129:A997V	A	+	2	0	DSP	7523700	0.989000	0.36119	1.000000	0.80357	0.932000	0.56968	1.570000	0.36439	1.089000	0.41292	0.655000	0.94253	GCA		0.333	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		10	103	0	0	0	1	0	10	103				
SLC9A3	6550	broad.mit.edu	37	5	482774	482774	+	Silent	SNP	G	G	A	rs143761751		TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr5:482774G>A	ENST00000264938.3	-	7	1254	c.1245C>T	c.(1243-1245)cgC>cgT	p.R415R	SLC9A3_ENST00000514375.1_Silent_p.R415R|CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	415					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)	p.R415R(2)		NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CCACGGCCCCGCGCAGGCCCC	0.612																																						ENST00000264938.3																			2	Substitution - coding silent(2)	p.R415R(2)	lung(2)	NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1243-1245)cgC>cgT		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3		G		2,4402	4.2+/-10.8	0,2,2200	45.0	45.0	45.0		1245	-8.3	0.4	5	dbSNP_134	45	0,8600		0,0,4300	no	coding-synonymous	SLC9A3	NM_004174.2		0,2,6500	AA,AG,GG		0.0,0.0454,0.0154		415/835	482774	2,13002	2202	4300	6502	SO:0001819	synonymous_variant	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:482774G>A		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1245C>T	5.37:g.482774G>A						SLC9A3_ENST00000514375.1_Silent_p.R415R	p.R415R	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		7	1254	-			415					B7ZKR2|E9PF67|Q3MIW3	Silent	SNP	ENST00000264938.3	37	c.1245C>T	CCDS3855.1																																																																																				0.612	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		9	16	0	0	0	1	0	9	16				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		3	77	0	0	0	1	0	3	77				
AMBRA1	55626	broad.mit.edu	37	11	46515257	46515257	+	Splice_Site	SNP	G	G	A			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr11:46515257G>A	ENST00000458649.2	-	11	2840	c.2422C>T	c.(2422-2424)Cgt>Tgt	p.R808C	AMBRA1_ENST00000529963.1_5'UTR|AMBRA1_ENST00000314845.3_Splice_Site_p.R718C|AMBRA1_ENST00000528950.1_Splice_Site_p.R779C|AMBRA1_ENST00000426438.1_Splice_Site_p.R779C|AMBRA1_ENST00000533727.1_Splice_Site_p.R689C|AMBRA1_ENST00000534300.1_Splice_Site_p.R748C|AMBRA1_ENST00000298834.3_Splice_Site_p.R748C			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	808					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AGCAAGAAACGCCTACAAGAA	0.468																																						ENST00000458649.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39						c.e11-1		autophagy/beclin-1 regulator 1							80.0	68.0	72.0					11																	46515257		2201	4299	6500	SO:0001630	splice_region_variant	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46515257G>A	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.2421-1C>T	11.37:g.46515257G>A						AMBRA1_ENST00000426438.1_Splice_Site_p.R779_splice|AMBRA1_ENST00000528950.1_Splice_Site_p.R779_splice|AMBRA1_ENST00000534300.1_Splice_Site_p.R748_splice|AMBRA1_ENST00000533727.1_Splice_Site_p.R689_splice|AMBRA1_ENST00000298834.3_Splice_Site_p.R748_splice|AMBRA1_ENST00000314845.3_Splice_Site_p.R718_splice|AMBRA1_ENST00000529963.1_5'UTR	p.R808_splice			Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	11	2840	-			808					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Splice_Site	SNP	ENST00000458649.2	37	c.2420_splice		.	.	.	.	.	.	.	.	.	.	G	21.2	4.106688	0.77096	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000458649;ENST00000528950	D;D;D;D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16;-3.16;-3.16;-3.16	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.93963	0.8067	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.85130	0.996;0.996;0.996;0.996;0.997;0.996	D	0.94483	0.7695	10	0.87932	D	0	.	13.5871	0.61937	0.0:0.0:0.8446:0.1554	.	808;779;748;689;811;718	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	C	718;689;748;779;748;808;779	ENSP00000318313:R718C;ENSP00000433372:R689C;ENSP00000431926:R748C;ENSP00000410899:R779C;ENSP00000298834:R748C;ENSP00000415327:R808C;ENSP00000433945:R779C	ENSP00000298834:R748C	R	-	1	0	AMBRA1	46471833	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.945000	0.70226	2.474000	0.83562	0.655000	0.94253	CGT		0.468	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749	Missense_Mutation	9	8	0	0	0	1	0	9	8				
HIST1H4D	8360	broad.mit.edu	37	6	26189197	26189197	+	Silent	SNP	G	G	A			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr6:26189197G>A	ENST00000340756.2	-	1	107	c.108C>T	c.(106-108)cgC>cgT	p.R36R		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	36					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				GAGCCAGGCGGCGGATAGCGG	0.567																																						ENST00000340756.2																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8						c.(106-108)cgC>cgT		histone cluster 1, H4d							38.0	43.0	41.0					6																	26189197		2203	4300	6503	SO:0001819	synonymous_variant	8360				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26189197G>A	X60482	CCDS4589.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000188987	ENSG00000277157		"""Histones / Replication-dependent"""	4782	protein-coding gene	gene with protein product		602823	"""H4 histone family, member B"", ""histone 1, H4d"""	H4FB		9119399, 12408966	Standard	NM_003539		Approved	H4/b	uc003ngu.3	P62805	OTTHUMG00000014423	ENST00000340756.2:c.108C>T	6.37:g.26189197G>A							p.R36R	NM_003539.3	NP_003530.1	P62805	H4_HUMAN			1	107	-		all_hematologic(11;0.196)	36					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000340756.2	37	c.108C>T	CCDS4589.1																																																																																				0.567	HIST1H4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040085.1	NM_003539		40	45	0	0	0	1	0	40	45				
GRIA4	2893	broad.mit.edu	37	11	105845043	105845043	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr11:105845043A>G	ENST00000530497.1	+	15	2416	c.2416A>G	c.(2416-2418)Acg>Gcg	p.T806A	GRIA4_ENST00000525187.1_Missense_Mutation_p.T806A|GRIA4_ENST00000393127.2_Missense_Mutation_p.T806A|GRIA4_ENST00000533094.1_3'UTR|RNU6-277P_ENST00000516272.1_RNA|GRIA4_ENST00000282499.5_Missense_Mutation_p.T806A			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	806					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		CTAGGACAAGACGAGTGCCTT	0.443																																						ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(2416-2418)Acg>Gcg		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						166.0	157.0	160.0					11																	105845043		2201	4299	6500	SO:0001583	missense	0				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105845043A>G	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.2416A>G	11.37:g.105845043A>G	ENSP00000435775:p.Thr806Ala					GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000525187.1_Missense_Mutation_p.T806A|GRIA4_ENST00000530497.1_Missense_Mutation_p.T806A|GRIA4_ENST00000282499.5_Missense_Mutation_p.T806A	p.T806A	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	16	2862	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	806					Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.2416A>G	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	A	14.26	2.483192	0.44147	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.82	5.82	0.92795	Ionotropic glutamate receptor (1);	0.000000	0.64402	D	0.000001	T	0.35566	0.0936	N	0.20610	0.595	0.44899	D	0.997915	B;B	0.31459	0.012;0.324	B;B	0.38428	0.023;0.273	T	0.14504	-1.0470	10	0.05525	T	0.97	.	16.1806	0.81895	1.0:0.0:0.0:0.0	.	806;806	P48058;G3V164	GRIA4_HUMAN;.	A	806	ENSP00000282499:T806A;ENSP00000376835:T806A;ENSP00000435775:T806A;ENSP00000432180:T806A	ENSP00000282499:T806A	T	+	1	0	GRIA4	105350253	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.238000	0.51352	2.221000	0.72209	0.528000	0.53228	ACG		0.443	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			4	160	0	0	0	1	0	4	160				
CEP170B	283638	broad.mit.edu	37	14	105344279	105344279	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr14:105344279G>A	ENST00000414716.3	+	4	481	c.253G>A	c.(253-255)Gat>Aat	p.D85N	CEP170B_ENST00000453495.1_Missense_Mutation_p.D85N|CEP170B_ENST00000556508.1_Missense_Mutation_p.D15N|CEP170B_ENST00000418279.1_Missense_Mutation_p.D15N	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	85						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GAAGCTCAACGATGTCATCCG	0.612																																						ENST00000453495.1																			0											c.(253-255)Gat>Aat		centrosomal protein 170B							53.0	60.0	57.0					14																	105344279		2097	4220	6317	SO:0001583	missense	283638							g.chr14:105344279G>A	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.253G>A	14.37:g.105344279G>A	ENSP00000404151:p.Asp85Asn					CEP170B_ENST00000414716.3_Missense_Mutation_p.D85N|CEP170B_ENST00000418279.1_Missense_Mutation_p.D15N|CEP170B_ENST00000556508.1_Missense_Mutation_p.D15N	p.D85N							4	481	+								Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	c.253G>A	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138778	0.77775	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;D;D;T	0.91464	1.43;-2.85;-2.85;1.43	3.51	3.51	0.40186	.	0.000000	0.64402	D	0.000001	D	0.95884	0.8660	M	0.91561	3.22	0.46586	D	0.999114	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.96675	0.9499	10	0.72032	D	0.01	-27.7166	13.9715	0.64242	0.0:0.0:1.0:0.0	.	85;15	Q9Y4F5-2;E9PFC1	.;.	N	15;85;85;15	ENSP00000451249:D15N;ENSP00000404151:D85N;ENSP00000407238:D85N;ENSP00000415006:D15N	ENSP00000404151:D85N	D	+	1	0	KIAA0284	104415324	1.000000	0.71417	0.226000	0.23910	0.409000	0.31022	5.011000	0.64011	1.798000	0.52647	0.313000	0.20887	GAT		0.612	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		8	7	0	0	0	1	0	8	7				
PRAMEF11	440560	broad.mit.edu	37	1	12885289	12885289	+	Silent	SNP	G	G	T	rs200907281	byFrequency	TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr1:12885289G>T	ENST00000535591.1	-	4	1017	c.822C>A	c.(820-822)ctC>ctA	p.L274L	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	274					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.L274L(3)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGCACTGGGAGAGATGCTTCA	0.458													.|||	1958	0.390974	0.1899	0.3501	5008	,	,		13255	0.6895		0.4553	False		,,,				2504	0.318					ENST00000535591.1																			3	Substitution - coding silent(3)	p.L274L(3)	kidney(2)|endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(820-822)ctC>ctA		PRAME family member 11							67.0	40.0	49.0					1																	12885289		582	1168	1750	SO:0001819	synonymous_variant	440560							g.chr1:12885289G>T	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.822C>A	1.37:g.12885289G>T							p.L274L	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			4	1017	-			274						Silent	SNP	ENST00000535591.1	37	c.822C>A	CCDS53268.1																																																																																				0.458	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		4	215	1	0	0.00909568	1	0.00926106	4	215				
SIGLEC10	89790	broad.mit.edu	37	19	51920435	51920435	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr19:51920435C>T	ENST00000339313.5	-	2	438	c.322G>A	c.(322-324)Gcg>Acg	p.A108T	SIGLEC10_ENST00000353836.5_Missense_Mutation_p.A108T|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.A108T|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.A108T|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.A108T|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.A108T|CTD-2616J11.2_ENST00000526996.1_RNA|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.A108T|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.A108T|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.A108T			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	108	Ig-like V-type.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TGCATCTGCGCGTCTCTGATC	0.517																																						ENST00000353836.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(322-324)Gcg>Acg		sialic acid binding Ig-like lectin 10							69.0	69.0	69.0					19																	51920435		2203	4300	6503	SO:0001583	missense	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51920435C>T	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.322G>A	19.37:g.51920435C>T	ENSP00000345243:p.Ala108Thr					SIGLEC10_ENST00000356298.5_Missense_Mutation_p.A108T|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.A108T|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.A108T|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.A108T|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.A108T|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.A108T|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.A108T|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.A108T	p.A108T	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	2	543	-		all_neural(266;0.0199)	108			Ig-like V-type.		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	c.322G>A	CCDS12832.1	.	.	.	.	.	.	.	.	.	.	.	19.60	3.857497	0.71834	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313;ENST00000530476	T;T;T;T;T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	4.92	4.92	0.64577	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.610455	0.15571	N	0.255453	T	0.78046	0.4222	M	0.80422	2.495	0.09310	N	1	D;D;D;P;D;D;D	0.89917	0.99;0.999;0.999;0.873;1.0;0.998;0.995	P;D;P;B;D;P;D	0.69142	0.831;0.962;0.872;0.319;0.928;0.823;0.961	T	0.68938	-0.5277	10	0.32370	T	0.25	.	13.6027	0.62029	0.0:1.0:0.0:0.0	.	108;108;108;108;108;108;108	C9JM10;E9PL79;C9JJ33;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;SIG10_HUMAN	T	108;108;108;108;108;108;108;108;108;75	ENSP00000342389:A108T;ENSP00000396742:A108T;ENSP00000395475:A108T;ENSP00000348646:A108T;ENSP00000408387:A108T;ENSP00000431444:A108T;ENSP00000389132:A108T;ENSP00000414324:A108T;ENSP00000345243:A108T;ENSP00000433838:A75T	ENSP00000345243:A108T	A	-	1	0	SIGLEC10	56612247	0.005000	0.15991	0.008000	0.14137	0.012000	0.07955	2.222000	0.42926	2.272000	0.75746	0.313000	0.20887	GCG		0.517	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		25	47	0	0	0	1	0	25	47				
SCARB2	950	broad.mit.edu	37	4	77084530	77084530	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr4:77084530G>C	ENST00000264896.2	-	11	1595	c.1246C>G	c.(1246-1248)Cac>Gac	p.H416D	SCARB2_ENST00000452464.2_Missense_Mutation_p.H273D	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	416					cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			TTATCAATGTGAACACTCTGG	0.383																																						ENST00000264896.2																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22						c.(1246-1248)Cac>Gac		scavenger receptor class B, member 2							167.0	149.0	155.0					4																	77084530		2203	4300	6503	SO:0001583	missense	950				cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity	g.chr4:77084530G>C	D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"""	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.1246C>G	4.37:g.77084530G>C	ENSP00000264896:p.His416Asp					SCARB2_ENST00000452464.2_Missense_Mutation_p.H273D	p.H416D	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	Lung(101;0.196)		11	1595	-			416					B4DKD8|E7EM68|Q53Y63	Missense_Mutation	SNP	ENST00000264896.2	37	c.1246C>G	CCDS3577.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358318	0.41801	.	.	ENSG00000138760	ENST00000264896;ENST00000452464	T;T	0.71222	-0.55;-0.55	5.87	2.02	0.26589	.	0.350897	0.28760	N	0.014223	T	0.46870	0.1415	N	0.04880	-0.145	0.20638	N	0.99987	B;B	0.11235	0.004;0.004	B;B	0.11329	0.006;0.004	T	0.34079	-0.9843	10	0.33940	T	0.23	.	10.9251	0.47187	0.0736:0.5103:0.4161:0.0	.	273;416	E7EM68;Q14108	.;SCRB2_HUMAN	D	416;273	ENSP00000264896:H416D;ENSP00000399154:H273D	ENSP00000264896:H416D	H	-	1	0	SCARB2	77303554	0.993000	0.37304	1.000000	0.80357	0.962000	0.63368	0.410000	0.21098	0.330000	0.23485	0.655000	0.94253	CAC		0.383	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252403.1	NM_005506		24	50	0	0	0	1	0	24	50				
ZFP36L2	678	broad.mit.edu	37	2	43452511	43452512	+	Frame_Shift_Ins	INS	-	-	CC	rs546559004	byFrequency	TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr2:43452511_43452512insCC	ENST00000282388.3	-	2	724_725	c.431_432insGG	c.(430-432)ggcfs	p.G144fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	144	Poly-Gly.				cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GGGAGCCGCCGCCCCCCTTCTG	0.639																																						ENST00000282388.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15						c.(430-432)gggfs		ZFP36 ring finger protein-like 2																																				SO:0001589	frameshift_variant	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43452511_43452512insCC	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.430_431dupGG	2.37:g.43452516_43452517dupCC	ENSP00000282388:p.Gly144fs					THADA_ENST00000330266.7_Intron	p.G144fs	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN			2	724_725	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	144			Poly-Gly.		Q53TB4|Q9BSJ3	Frame_Shift_Ins	INS	ENST00000282388.3	37	c.431_432insGG	CCDS1811.1																																																																																				0.639	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		11	7						11	7	---	---	---	---
PPP2CA	5515	broad.mit.edu	37	5	133536761	133536761	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr5:133536761delA	ENST00000481195.1	-	4	771	c.491delT	c.(490-492)ttcfs	p.F164fs	PPP2CA_ENST00000231504.5_5'Flank|CTD-2410N18.5_ENST00000519718.1_Intron	NM_002715.2	NP_002706.1	P67775	PP2AA_HUMAN	protein phosphatase 2, catalytic subunit, alpha isozyme	164					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|meiotic nuclear division (GO:0007126)|mesoderm development (GO:0007498)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein dephosphorylation (GO:0006470)|protein heterotrimerization (GO:0070208)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of protein autophosphorylation (GO:0031952)|regulation of protein catabolic process (GO:0042176)|regulation of receptor activity (GO:0010469)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase type 2A complex (GO:0000159)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Vitamin E(DB00163)	ATGTAGACAGAAGATCTGAAA	0.423																																						ENST00000481195.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12						c.(490-492)tcfs		protein phosphatase 2, catalytic subunit, alpha isozyme							97.0	95.0	96.0					5																	133536761		2203	4300	6503	SO:0001589	frameshift_variant	5515							g.chr5:133536761delA		CCDS4173.1	5q31.1	2013-01-24	2010-03-05		ENSG00000113575	ENSG00000113575	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9299	protein-coding gene	gene with protein product	"""protein phosphatase 2A catalytic subunit, alpha isoform"""	176915	"""protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform"""			8383590	Standard	NM_002715		Approved	PP2Calpha		P67775	OTTHUMG00000129119	ENST00000481195.1:c.491delT	5.37:g.133536761delA	ENSP00000418447:p.Phe164fs						p.F164fs	NM_002715.2	NP_002706.1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	771	-								P05323|P13197	Frame_Shift_Del	DEL	ENST00000481195.1	37	c.491delT	CCDS4173.1																																																																																				0.423	PPP2CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251165.1	NM_002715		50	73						50	73	---	---	---	---
DST	667	broad.mit.edu	37	6	56600056	56600056	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr6:56600056delA	ENST00000361203.3	-	2	130	c.123delT	c.(121-123)tttfs	p.F41fs	DST_ENST00000370769.4_Frame_Shift_Del_p.F41fs|DST_ENST00000370754.5_Frame_Shift_Del_p.F219fs|DST_ENST00000370788.2_Frame_Shift_Del_p.F41fs|DST_ENST00000421834.2_Frame_Shift_Del_p.F41fs|DST_ENST00000312431.6_Frame_Shift_Del_p.F41fs			Q03001	DYST_HUMAN	dystonin	41	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCCATTTTGTAAATGTTTTCT	0.299																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(655-657)ttfs		dystonin							78.0	73.0	75.0					6																	56600056		1784	4045	5829	SO:0001589	frameshift_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56600056delA	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.123delT	6.37:g.56600056delA	ENSP00000354508:p.Phe41fs					DST_ENST00000421834.2_Frame_Shift_Del_p.F41fs|DST_ENST00000370788.2_Frame_Shift_Del_p.F41fs|DST_ENST00000361203.3_Frame_Shift_Del_p.F41fs|DST_ENST00000312431.6_Frame_Shift_Del_p.F41fs|DST_ENST00000370769.4_Frame_Shift_Del_p.F41fs	p.F219fs			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		5	656	-	Lung NSC(77;0.103)		41			Actin-binding.|CH 2.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Frame_Shift_Del	DEL	ENST00000361203.3	37	c.657delT																																																																																					0.299	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		2	4						2	4	---	---	---	---
AMBRA1	55626	broad.mit.edu	37	11	46564154	46564155	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr11:46564154_46564155insC	ENST00000458649.2	-	7	1830_1831	c.1412_1413insG	c.(1411-1413)ggtfs	p.G471fs	AMBRA1_ENST00000314845.3_Frame_Shift_Ins_p.G381fs|AMBRA1_ENST00000528950.1_Frame_Shift_Ins_p.G471fs|AMBRA1_ENST00000426438.1_Frame_Shift_Ins_p.G471fs|AMBRA1_ENST00000533727.1_Frame_Shift_Ins_p.G381fs|AMBRA1_ENST00000534300.1_Frame_Shift_Ins_p.G471fs|AMBRA1_ENST00000298834.3_Frame_Shift_Ins_p.G471fs			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	471					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		ATGCCGGAAAACCCCTCCCTTC	0.559																																						ENST00000458649.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39						c.(1411-1413)gttfs		autophagy/beclin-1 regulator 1																																				SO:0001589	frameshift_variant	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46564154_46564155insC	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.1413dupG	11.37:g.46564158_46564158dupC	ENSP00000415327:p.Gly471fs					AMBRA1_ENST00000528950.1_Frame_Shift_Ins_p.V471fs|AMBRA1_ENST00000314845.3_Frame_Shift_Ins_p.V381fs|AMBRA1_ENST00000426438.1_Frame_Shift_Ins_p.V471fs|AMBRA1_ENST00000534300.1_Frame_Shift_Ins_p.V471fs|AMBRA1_ENST00000533727.1_Frame_Shift_Ins_p.V381fs|AMBRA1_ENST00000298834.3_Frame_Shift_Ins_p.V471fs	p.V471fs			Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	7	1830_1831	-			471					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Frame_Shift_Ins	INS	ENST00000458649.2	37	c.1412_1413insG																																																																																					0.559	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		49	71						49	71	---	---	---	---
TMEM199	147007	broad.mit.edu	37	17	26684394	26684395	+	5'Flank	INS	-	-	G	rs202089331|rs17856014	byFrequency	TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr17:26684394_26684395insG	ENST00000292114.3	+	0	0				TMEM199_ENST00000509083.1_5'Flank|POLDIP2_ENST00000003607.4_5'UTR|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000395404.3_5'Flank|POLDIP2_ENST00000540200.1_Splice_Site	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AGAGCGGCTTTGCCACCGGGCC	0.762																																						ENST00000540200.1																			0											c.e1+1		polymerase (DNA-directed), delta interacting protein 2				2770,50		1380,10,20						0.4	0.1		dbSNP_130	4	6440,112		3203,34,39	no	frameshift	POLDIP2	NM_015584.3		4583,44,59	A1A1,A1R,RR		1.7094,1.773,1.7286				9210,162				SO:0001631	upstream_gene_variant	26073					mitochondrial nucleoid|nucleus		g.chr17:26684394_26684395insG	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26684395_26684395dupG	Exception_encountered					POLDIP2_ENST00000003607.4_5'UTR		NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	1	78	-	all_lung(13;0.000354)|Lung NSC(42;0.00115)								Splice_Site	INS	ENST00000292114.3	37		CCDS11228.1																																																																																				0.762	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		3	4						3	4	---	---	---	---
